Τετάρτη, 17 Ιανουαρίου 2018

Issue Information



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Increased lactate load of older red blood cell preparations increases blood lactate concentrations in infants during cardiac surgery



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In this issue: February 2018



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Safety of dipyrone (metamizole) in children—What's the risk of agranulocytosis?



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Comment on Chiem J, Ivanova I, Jimenez N. Anaphylactic reaction to tranexamic acid in an adolescent undergoing posterior spinal fusion



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Distribution and dynamic expression of serotonin and dopamine in the nervous system and ovary of Holothuria scabra during ovarian maturation

Abstract

In the present study, the distribution and dynamic expression of serotonin and dopamine in the nervous system and ovary of the sea cucumber, Holothuria scabra, during different ovarian stages were investigated. We found that serotonin-immunoreactivity was more intense in the neurons and neuropils of the outer ectoneural part, the inner hyponeural part, and the wall of hyponeural canal of radial nerve cord during the mature stages of ovarian cycle, whereas dopamine-immunoreactivity was detected at a higher intensity in these tissues during the early stages. Both neurotransmitters were detected in the ectoneural part of the nerve ring. In the ovary, serotonin intensity was more intense in the cytoplasm of late oocytes, while dopamine-immunoreactivity was more intense in the early stages. The changes in the levels serotonin in the radial nerve cord and oocytes are incremental towards the late stages of ovarian maturation. In contrast, dopamine levels in the nervous tissues and oocytes were more intense in early stages and became decremental towards the late stages. These findings suggest that serotonin and dopamine may have opposing effects on ovarian development in this sea cucumber species.



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Uncovering Genomic Regions Associated with Trypanosoma Infections in Wild Populations of the Tsetse Fly Glossina fuscipes

Vector-borne diseases are responsible for more than one million deaths every year but genomic resources for most species responsible for their transmission are limited. This is true for neglected diseases such as sleeping sickness (Human African Trypanosomiasis), a disease caused by Trypanosoma parasites vectored by several species of tseste flies within the genus Glossina.  We describe an integrative approach that identifies statistical associations between trypanosome infection status of Glossina fuscipes fuscipes (Gff) flies from Uganda, for which functional studies are complicated because the species cannot be easily maintained in laboratory colonies, and ~73,000 polymorphic sites distributed across the genome. Then, we identify candidate genes involved in Gff trypanosome susceptibility by taking advantage of genomic resources from a closely related species, Glossina morsitans (Gmm). We compiled a comprehensive transcript library from 72 published and unpublished RNAseq experiments of trypanosome infected and uninfected Gmm flies and improved the current Gmm transcriptome assembly. This new assembly was then used to enhance the functional annotations on the  Gff genome. As a consequence, we identified 56 candidate genes in the vicinity of the 18 regions associated with Trypanosoma infection status in Gff. Twenty-nine  of these genes were differentially expressed among parasite-infected and uninfected Gmm, suggesting that their orthologs in Gff may correlate with disease transmission. These genes were involved in DNA regulation, neurophysiological functions, and immune responses. We highlight the power of integrating population and functional genomics from related species to enhance our understanding of the genetic basis of physiological traits, particularly in non-model organisms.



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NDUFAF3 Variants that Disrupt Mitochondrial Complex I Assembly may associate with Cavitating Leukoencephalopathy

Abstract

Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a one-year-old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra, medial thalamic nuclei, and basal nuclei, as well as cavities in the cerebral white matter and corpus callosum. Lactate levels in the spinal fluid were high, while magnetic resonance spectroscopy of the cerebral white matter and basal nuclei showed high peak lactate levels, suggesting mitochondrial dysfunction. The respiratory enzyme activity of complex I was reduced to 17–21% in skeletal muscle. Whole exome sequencing identified compound heterozygous variations in NDUFAF3, involved in the assembly of mitochondrial complex I (c.342_343insGTG:p.117Valdup, c.505C>A:p.Pro169Thr). Two-dimensional blue native polyacrylamide gel electrophoresis (PAGE) and sodium dodecyl sulfate-PAGE revealed reductions in Q-module (NDUFS2, NDUFS3, and NDUFA9) and P-module (NDUFB10 and NDUFB11) subunits, indicating disruption of mitochondrial complex I assembly. Our report expands the spectrum of clinical phenotypes associated with pathogenic variants of NDUFAF3.

Thumbnail image of graphical abstract

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Predictive neuromechanical simulations indicate why walking performance declines with aging

Abstract

Healthy elderly people walk slower and energetically less efficiently than young adults. This decline in walking performance lowers the quality of life for a growing aging population, and understanding its physiological origin is critical for devising interventions that can delay or revert it. However, the origin of the decline in walking performance remains unknown, as aging produces a range of physiological changes whose individual effects on gait are difficult to separate in experiments with human subjects. Here we use a predictive neuromechanical model to separately address the effects of common age-related changes to the skeletal, muscular, and nervous systems. We find in computer simulations of this model that the combined changes produce gait consistent with elderly walking and that mainly the loss of muscle strength and mass reduces energy efficiency. In addition, we find that the slower preferred walking speed of elderly people emerges in the simulations when adapting to muscle fatigue, again mainly caused by muscle-related changes. The results suggest that a focus on recovering these muscular changes may be the only effective way to improve performance in elderly walking.

This article is protected by copyright. All rights reserved



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Hospitalization Rates for Acute Myocardial Infarction Among Asian-American Subgroups: Have We Been Underestimating the Problem?

Abstract

Concerns about the quality of race/ethnicity data collected by hospitals have limited our understanding of healthcare disparities affecting ethnic minorities in the United States. Using data from the New Jersey State Inpatient Databases and the American Community Survey, we calculated age-adjusted AMI hospitalization rates for Asian-American subgroups before (2005–2006) and after (2008–2009) New Jersey hospitals implemented standardized practices to collect more accurate granular race/ethnicity data from patients. Rates were reported per 100,000 persons for Asian Indian, Chinese, Filipino, Japanese, Korean, and Vietnamese subgroups. AMI hospitalization rates increased for all subgroups except Vietnamese following implementation of the New Jersey program; increases were statistically significant for Asian Indian, Chinese, and Korean subgroups. Rates of hospitalization for AMI increased significantly for multiple Asian-American subgroups following implementation of the New Jersey program. National population health metrics for Asian-American subgroups may be prone to significant underestimation without widespread utilization of similar practices.



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Longitudinal Trajectories of Food Insecurity Among Children of Immigrants

Abstract

Although research consistently points to higher rates of food insecurity (FI) among children of immigrants (COI), this is the first study to examine longitudinal trajectories of FI for this group. We used growth curve modeling and data from the 1998 Early Childhood Longitudinal Study—Kindergarten Cohort to compare trajectories of FI for COI and children of U.S.-born parents. After controlling for socioeconomic status and participation in nutrition programs, first- and second-generation COI had significantly higher initial and ongoing rates of FI compared to children of U.S.-born parents. Additional analyses found that all differences between COI and children of U.S.-born parents occurred for families in poverty. We find that COI from poor families have higher rates of FI, with some differences among COI by immigrant generation. Policymakers may need to focus on avenues other than public assistance to reduce FI among COI living in poverty.



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Measuring Factors Associated with Colorectal Cancer Screening among Young Adult African American Men: A Psychometric Study

Abstract

The Male Role Norms, Knowledge, Attitudes, and Perceptions associated with Colorectal Cancer Screening (MKAP-CRCS) survey was developed to assess the attitudes, knowledge, male role norms, perceived barriers, and perceived subjective norms associated with screening for colorectal cancer (CRC) among young adult African American men. There is a critical need for exploring the complex factors that may shape attitudes towards CRC screening among men who are younger (i.e., ages 19–45) than those traditionally assessed by clinicians and health promotion researchers (age 50 and older). Psychometrically sound measures are crucial for eliciting valid and reliable data on these factors. The current study, therefore, assessed the psychometric properties of the MKAP-CRCS instrument using an online sample of young adult African American men (N = 157) across the United States. Exploratory principal component factor analyses revealed that the MKAP-CRCS measure yielded construct valid and reliable scores, suggesting that the scale holds promise as an appropriate tool for assessing factors associated with CRC screening among younger African American men. Strengths and limitations of this study, along with directions for future research are discussed, including the need for more research examining the relationship between masculinity and CRC screening among African American men.



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Bedouin Women’s Gender Preferences When Choosing Obstetricians and Gynecologists

Abstract

Patients' preferences in choosing obstetricians/gynecologists are widely investigated, but studies among traditional populations are lacking. Bedouins comprise a traditional Arab Muslim society in the Arabian Peninsula (Saudi Arabia), The Levant (Syria, Jordan and Israel) and North Africa (Egypt). Most of the Bedouins in Israel populate several villages, mostly in the southern part of the country. This cross-sectional study compared 200 Bedouin and 200 Jewish women who responded to an anonymous questionnaire. Queried on gender alone, more Bedouin responders preferred female obstetricians/gynecologists (59.5 vs. 33% Jewish responders, p value <0.0001). Bedouin women preferred a female obstetrician/gynecologist for intimate procedures [feeling more comfortable (66.3%) and believing that females were more gentle (50%)]. However, they and the Jewish participants ranked ability, experience and knowledge as the top 3 qualities of an obstetrician/gynecologist, putting reputation in 4th place and gender in 5th place. Bedouin women strongly preferred female obstetricians/gynecologists, although professional skills were an important factor in their choice of caregiver. The ideal obstetrician/gynecologist for Bedouin women would be a skilled, knowledgeable, and experienced female.



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Examining Mammography Use by Breast Cancer Risk, Race, Nativity, and Socioeconomic Status

Abstract

Minority and foreign-born women report lower rates of mammograms compared to non-Hispanic white, U.S.-born women, even though they have increased risk for developing breast cancer. We examine disparities in mammography across breast cancer risk groups and determine whether disparities are explained by socioeconomic factors. Propensity score methodology was used to classify individuals from the 2000, 2005, and 2010 National Health Interview Survey according to their risk for developing breast cancer. Logistic regression models were used to predict the likelihood of mammography. Compared to non-Hispanic white women, Mexicans, Asians and "other" racial/ethnic origins were less likely to have undergone a mammogram. After controlling for breast cancer risk, socioeconomic status and health care resources, Mexican, Cuban, Dominican, Central American, Black, and foreign-born women had an increased likelihood of receiving a mammogram. Using propensity scores makes an important contribution to the literature on sub-population differences in the use of mammography by addressing the confounding risk of breast cancer. While other factors related to ethnicity or culture may account for lower breast cancer screening rates in Asian and Mexican women, these findings highlight the need to consider risk, in addition to socioeconomic factors, that may pose barriers to screening in determining mammography disparities.



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A Preliminary Community-Based Occupational Health Survey of Black Hair Salon Workers in South Los Angeles

Abstract

Black hair-salon workers face serious health hazards from the product they use on clients and other health hazards at their work. Currently there is a significant research gap in understanding the prevalence of workplace related exposures and health outcomes. The primary objective of this study was to gather preliminary data on workplace exposures and health outcomes of hair care workers in South Los Angeles. We conducted 22 surveys of salon workers at 16 salons. The results suggest the need for proper health and safety training within the salon worker community, specifically around chemical hair services. The results also suggest ergonomic workstation assessments and recommendations would be beneficial to reduce musculoskeletal disorders. Willingness of stylists to learn more about workplace hazards and how to mitigate their risks was high. Our findings indicate the need for a larger community based participatory research study on the workplace exposures of Black salon workers.



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Stage Validity of the Health Action Process Approach in African American Breast Cancer Survivors

Abstract

The Health Action Process Approach (HAPA) has been applied in a number of populations because it proposes to overcome limitations from previous health behavior theories. However, it has yet to be applied to cancer survivors or racial/ethnic minorities. In this study, we examined the construct validity of the HAPA phase and stage algorithms in a sample of African American breast cancer survivors. A total of 259 African American breast cancer survivors (mean age = 54 years) participated in a Web-based survey that assessed sociodemographic and medical characteristics, physical activity, and HAPA constructs. Analysis of covariance was used to compare mean differences between HAPA phase/stage. Statistical significance was determined at p < 0.017 due to multiple comparisons. Phase and stage inconsistencies were observed for most constructs. However, adequate distinctions were made for motivational self-efficacy and intentions (i.e., P = I < A) by phase, and both action and coping planning (i.e., P < I < A) by stage. Our data indicate partial support of the HAPA algorithm to classify African American breast cancer survivors according to stage or phase. Modifying the staging algorithm or constructs are needed if stage- or phase-based interventions can be designed for this population.



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The Influence of Parental Education on Dietary Intake in Latino Youth

Abstract

Acculturation to the US culture is associated with suboptimal dietary choices in Latino youth. The role of parental education in shaping children's nutrition is less clear. The purpose of this study was to examine the relationships between parental education, acculturation and dietary intake in 96 Latino youth ages 8–18 years. Parental education was assessed using a seven-category variable. Acculturation was assessed using the Acculturation, Habits, and Interests Multicultural Scale for Adolescents questionnaire. Dietary intake was assessed via 24-h dietary recalls using the multiple pass technique. Parental education was associated with lower fat intake (β = −0.115, p = 0.02) and lower fiber intake (β = 0.144, p = 0.03); these associations remained significant after controlling for age, sex, BMI and acculturation. There were no significant associations between acculturation and dietary variables (all p's >0.05). This data suggests parental education may play an important role in shaping dietary intake in Latino youth.



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The safety and efficacy of elbasvir and grazoprevir in participants with hepatitis C virus genotype 1b infection

Abstract

Background

Genotype 1b (GT1b) is the most common subtype of the hepatitis C virus (HCV). We present an integrated analysis of 1070 participants with HCV GT1b infection from 30 countries who received elbasvir/grazoprevir for 12 weeks.

Methods

This is a retrospective analysis of data from participants with chronic HCV GT1b infection enrolled in 11 phase II/III clinical trials. All participants received elbasvir 50 mg plus grazoprevir 100 mg once daily for 12 weeks. The primary end point of all studies was sustained virologic response 12 weeks after completion of therapy (SVR12, HCV RNA < 15 IU/ml).

Results

SVR12 was 97.2% (1040/1070). Of the 30 participants who failed to attain SVR12, 15 relapsed and 15 had nonvirologic failure. Among participant subgroups, SVR12 was high in those with compensated cirrhosis (188/189, 99.5%), HIV co-infection (51/54, 94.4%), and baseline viral load > 800,000 IU/ml (705/728, 96.8%). Resistance-associated substitutions (RASs) at NS5A positions 28, 30, 31, or 93 were present in 21.6% of participants at baseline. SVR12 was 99.6% (820/823) in participants without baseline NS5A RASs and 94.7% (215/227) in those with baseline NS5A RASs. Serious adverse events occurred in 3.2% (34/1070) of participants, nine of which occurred after study medication was completed.

Conclusions

Elbasvir/grazoprevir for 12 weeks represents an effective treatment option for participants with HCV GT1b infection. SVR12 was high in all participant subgroups, including those with compensated cirrhosis, HIV co-infection, and high baseline viral load.

ClinicalTrials.gov identifiers

The trials discussed in this paper were registered with Clinicaltrial.gov as the following: NCT02092350 (C-SURFER), NCT02105662 (C-EDGE Co-Infection), NCT02105467 (C-EDGE treatment-naive), NCT02105701 (C-EDGE treatment-experienced), NCT01717326 (C-WORTHy), NCT02251990 (C-CORAL), NCT02105688 (C-EDGE COSTAR), NCT02252016 (C-EDGE IBLD), NCT02115321 (C-SALT), NCT02203149 (Japan phase 2/3 study), NCT02358044 (C-EDGE Head-2-Head).



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Usefulness of the S–O clip for gastric endoscopic submucosal dissection (with video)

Abstract

Background

Endoscopic submucosal dissection (ESD) is technically one of the most complicated endoscopic procedures. Traction methods have been reported to be effective for ESD. A recent study revealed that the S–O clip allowed faster and safer colonic ESD. We assessed the efficacy and safety of gastric ESD with the S–O clip for gastric epithelial neoplasm.

Methods

We performed a retrospective cohort study of patients treated for gastric ESD using the S–O clip between September and November 2016 (SO group, n = 48). The subjects were matched with patients treated with conventional gastric ESD from September 2015 to August 2016 (control group, n = 258) at Sendai Kousei Hospital, a tertiary endoscopic center. The primary outcome was procedure time. Multivariate logistic regression and propensity score matching analyses were performed to reduce the effects of selection bias for potential confounding factors differences like age, sex, lesion location, lesion position, presence of ulcer scarring, resected specimen size, and operator experiences.

Results

Forty-eight pairs were created after propensity score matching. The mean procedure time (including the S–O clip attachment time) was significantly shorter in the SO group (47.2 ± 24.6 vs. 69.2 ± 67.1 min, p = 0.035). The mean clip attachment time was 4.4 (range 2–15) min. There were no significant differences in other treatment outcomes (en-bloc resection rate: 100 vs. 100%, p = 1.000; perforation rate: 0 vs. 2.1%, p = 0.315; delayed bleeding rate: 2.1 vs. 4.3%, p = 0.558).

Conclusions

The S–O clip improved the speed of gastric ESD by approximately 25%, without increasing adverse events.



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Robotic gastric bypass may lead to fewer complications compared with laparoscopy

Abstract

Background

Robotic technology leads to improved visualization and precision over laparoscopy but also higher cost of care. The benefits of this technology to patient outcomes are controversial. Our objective was to assess whether the application of robotic surgery to Roux-en-Y gastric bypass (RYGB) would lead to improved patient outcomes.

Methods

A prospectively collected database at a bariatric center of excellence was reviewed for all RYGB procedures performed by one surgeon between 2007 and 2015. Procedures performed laparoscopically (transoral circular stapling technique) versus robotically (hand-sewn anastomosis) were compared; the transition in technique occurred in 2011. Patient demographics, baseline weight, BMI, operation duration, estimated blood loss (EBL), length of hospital stay (LOS), morbidity and mortality, and percent excess weight loss (%EWL) at 1-year follow-up were compared between groups. Morbidity up to 1-year postop was assessed using the Clavien–Dindo classification.

Results

Of 246 patients, 125 underwent robotic and 121 laparoscopic RYGB. Patients in the robotic group were older and heavier but achieved similar  %EWL to the laparoscopic group. The operative duration was longer but the mean patient LOS was shorter with the robotic approach. There were no leaks and no mortality. Based on the Clavien–Dindo classification, fewer overall and fewer severe complications occurred in the robotic compared with the laparoscopic approach.

Conclusion

In our experience, the use of robotic technology for the creation of gastric bypass led to longer operative times, similar %EWL but decreased LOS and number and severity of complications compared with the laparoscopic approach. Since our findings may have been influenced by the type of anastomotic technique used with each approach they need confirmation by a controlled trial.



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Sleeve gastrectomy telementoring: a SAGES multi-institutional quality improvement initiative

Abstract

Background

Sleeve gastrectomy is a relatively new procedure that developed as a result of rapid innovation in the field of bariatric surgery. As with any newly developed operation, there is a learning curve that potentially can be associated with higher morbidity. Real-time surgical mentoring reduces the learning curve effect but can be time intensive for the mentor. The aim of this initiative was to evaluate the feasibility, effectiveness, and satisfaction of surgical telementoring for laparoscopic sleeve gastrectomy. This is the first national specialty society effort to determine if the "remote presence" of an expert surgeon (mentor) can help practicing surgeons improve skills.

Methods

The experience of 15 surgical trainees (mentees) who performed laparoscopic sleeve gastrectomy under real-time telementoring by 7 mentors was reviewed. Telementoring was implemented using the Visitor1® remote presence system with two-way live audio and video communication. The receiving platform utilized a conventional laptop, iPad, or iPhone. The mentee followed a structured telementoring program including didactic learning, live case teleobservation, and telementoring of 2–3 cases. A survey on the quality of the telecommunication and effectiveness of the mentoring was performed by the mentor and mentee on a scale of "exceeded," "met," "almost met," or "failed to meet" expectations. The overall telementoring experience was rated on a scale of 1 for "poor" to 5 for "excellent."

Results

Based on the mentees' survey, the overall telementoring experience was rated as 4.8. Despite the mentees having experience with laparoscopic sleeve gastrectomy, most commented that the telementoring experience was an excellent educational tool and they learned some new techniques they plan to apply it in their practice. Based on the mentors' survey, the overall telementoring experience was rated as 4.7. All mentors stated that they were satisfied with the telementoring sessions and there were no unexpected intraoperative occurrences. There were some logistical limitations including difficulties in scheduling of cases or the delay of cases.

Conclusions

Surgical instruction by telementoring was shown to be feasible, practical, and successful, and was highly rated in this study by both the mentors and mentees. The currently utilized telementoring platform is thus an effective educational tool that can facilitate acquisition of surgical skills and assist with the conventional on-site surgical mentoring model.



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Outcome of dilatation and predictors of failed dilatation in patients with acid-induced corrosive esophageal strictures

Abstract

Outcome of endoscopic dilatation in acid-induced corrosive esophageal stricture is less known. This study aims to determine the outcome of dilatation and predictors of failed dilatation in patients with acid-induced corrosive esophageal stricture. Patients diagnosed of corrosive esophageal strictures were included. Endoscopic dilatation with graded Savary-Gilliard dilator was performed as the first line treatment. Outcome of dilatation was considered favorable when patients were able to swallow solid without intervention at least six months after successful dilatation. Failure of dilatation was defined as one of the following; complete luminal stenosis, inability to perform safe dilatation, perforation, and inability to maintain adequate luminal patency. Surgery or repeated dilatation was indicated in failed dilatations. There were 55 patients with corrosive esophageal strictures. Of 55 patients, 41 (75%) had failed dilatation (38 having esophageal replacement procedure, two continue repeated dilatation and one unfit for surgery). Of 323 sessions of dilatations, eight out of 55 patients (14.5%) had perforations. There was no dilatation-related mortality. Patients with concomitant pharyngeal stricture (p = 0.0001), long (≥ 10 cm) stricture length (p < 0.0001), number of dilatation >6 sessions per year (p = 0.01) and refractory stricture (inability to pass a larger than 11 mm dilator within three sessions) (p = 0.01) were more likely to have failed dilatation. Thirty-two of 38 patients with surgery had good swallow outcome with one operative mortality (2.6%). At the median follow-up of 61 months, overall favorable outcome was 84% after surgery and 25% for dilatation (p < 0.0001). Majority of patients with acid-induced corrosive esophageal stricture were refractory to dilatation. Esophageal dilatations were ultimately failed in three-fourth of the patients. Concomitant cricopharyngeal stricture, long stricture length, requiring frequent dilatation, and refractory to >11 mm dilatation were factors associated with failed dilatation.



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Long- and short-term outcomes of laparoscopic gastrectomy versus open gastrectomy in patients with clinically and pathological locally advanced gastric cancer: a propensity-score matching analysis

Abstract

Background

Laparoscopic (laparoscopy-assisted) gastrectomy (LG) has several short-term benefits as compared with open distal gastrectomy (OG) in patients with advanced gastric cancer (AGC). Survival rates did not differ significantly between LG and OG in retrospective studies of AGC, although some studies included unmatched groups of patients or patients with AGC who had a preoperative diagnosis of early gastric cancer. The aim of present study was to compare the short- and long-term outcomes of patients with AGC who underwent LG with those of patients with AGC who underwent OG using a propensity-score matching analysis.

Methods

The study group comprised patients with a preoperative and pathologically confirmed diagnosis of AGC who underwent LG or OG with lymphadenectomy between January 2001 and December 2012 in our hospital. To minimize bias between the LG and OG groups, propensity scores were calculated using a logistic regression model and the following variables: sex, age, body-mass index, American Society of Anesthesiologists physical status class, type of gastrectomy, and clinical and pathological tumor stage. After propensity-score matching, 104 patients (52 who underwent LG and 52 who underwent OG) were studied.

Results

LG was associated with significantly earlier initiation of food intake (p <0.01) and a significantly shorter period of postoperative hospitalization (p <0.01). The incidence of all-grade overall, surgical, and medical complications did not differ significantly between the LG group and OG group (p = 0.24, p = 0.12, and p >0.99). Overall and relapse-free survival also did not differ between the LG group and OG group (p = 0.96, p = 0.91). In each tumor stage, overall and relapse-free survival did not differ significantly between the LG group and OG group.

Conclusion

LG can be a feasible treatment that is beneficial in terms of earlier recovery after operation and can be expected to result in similar survival as OG in patients with AGC.



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Increasing bile duct injury and decreasing utilization of intraoperative cholangiogram and common bile duct exploration over 14 years: an analysis of outcomes in New York State

Abstract

Introduction

During laparoscopic cholecystectomy (LC), common bile duct (CBD) visualization either directly or with cholangiography (IOC) is less routine. Cholangiography can be used to identify and possibly prevent bile duct injury (BDI), which is a dreaded complication of cholecystectomy. The purpose of our study was to evaluate the trend of IOC/CBD exploration and BDI during LC for benign disease.

Methods

A state-wide database (SPARCS) was used to identify all LC for benign biliary non-obstructive and obstructive disease between 2000 and 2014 in the state of New York. ICD-9 and CPT codes were used to identify IOC/CBD exploration and BDI. Multivariable logistic regression models were used in examining the linear trend in the risk of complication, 30-day readmission, 30-day ED visits, and BDI among all cholangiogram patients after controlling for possible confounding factors.

Results

During 2000–2014, 391,945 patients underwent laparoscopic cholecystectomy. The trend of IOC/CBD exploration performed significantly decreased for LC overall (12.37–10.44%, relative risk = 0.98, p <.0001) and particularly, in the outpatient setting (10.77–7.52%, relative risk = 0.96, p value <.0001). Among patients with IOC, overall complication rate, 30-day readmission rate, and 30-day ED visit rates increased. When looking at overall complication rate, there was an increase by about 4% per year (relative risk = 1.04, p value <.0001). After controlling for confounding factors, the complication risk and 30-day ED visit risk increased through years, while the 30-day readmission risk did not have significant change. Risk of BDI also increased significantly (p = 0.03).

Conclusion

In an era of laparoscopy, the rate of IOC/CBD exploration during LC has significantly decreased, while BDI significantly increased.



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Comparison of pure laparoscopic versus open left hemihepatectomy by multivariate analysis: a retrospective cohort study

Abstract

Introduction

To compare the outcomes of pure laparoscopic left hemihepatectomy (LLH) versus open left hemihepatectomy (OLH) for benign and malignant conditions using multivariate analysis.

Materials and methods

All consecutive cases of LLH and OLH between October 2007 and December 2013 in a tertiary referral hospital were enrolled in this retrospective cohort study. All surgical procedures were performed by one surgeon. The LLH and OLH groups were compared in terms of patient demographics, preoperative data, clinical perioperative outcomes, and tumor characteristics in patients with malignancy. Multivariate analysis of the prognostic factors associated with severe complications was then performed.

Results

The LLH group (n = 62) had a significantly shorter postoperative hospital stay than the OLH group (n = 118) (9.53 ± 3.30 vs 14.88 ± 11.36 days, p < 0.001). Multivariate analysis revealed that the OLH group had >4 times the risk of the LLH group in terms of developing severe complications (Clavien–Dindo grade ≥III) (odds ratio 4.294, 95% confidence intervals 1.165–15.832, p = 0.029).

Discussion

LLH was a safe and feasible procedure for selected patients. LLH required shorter hospital stay and resulted in less operative blood loss. Multivariate analysis revealed that LLH was associated with a lower risk of severe complications compared to OLH. The authors suggest that LLH could be a reasonable treatment option for selected patients.



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Comparative analysis of open and robotic transversus abdominis release for ventral hernia repair

Abstract

Background

Transversus abdominis release (TAR) is a safe, effective strategy to repair complex ventral incisional hernia (VIH); however, open TAR (o-TAR) often necessitates prolonged hospitalization. Robot-assisted TAR (r-TAR) may benefit short-term outcomes and shorten convalescence. This study compares 90-day outcomes of o-TAR and r-TAR for VIH repair.

Methods

A single-center, retrospective review of patients who underwent o-TAR or r-TAR for VIH from 2015 to 2016 was conducted. Patient and hernia characteristics, operative data, and 90-day outcomes were compared. The primary outcome was hospital length of stay, and secondary metrics were morbidity, surgical site events, and readmission.

Results

Overall, 102 patients were identified (76 o-TAR and 26 r-TAR). Patients were comparable regarding age, gender, body mass index, and the presence of co-morbidities. Diabetes was more common in the open group (22.3 vs. 0%, P = 0.01). Most VIH defects were midline (89.5 vs. 83%, P = 0.47) and recurrent (52.6 vs. 58.3%, P = 0.65). Hernia characteristics were similar regarding mean defect size (260 ± 209 vs. 235 ± 107 cm2, P = 0.55), mesh removal, and type/size mesh implanted. Average operative time was longer in the r-TAR cohort (287 ± 121 vs. 365 ± 78 min, P < 0.01) despite most receiving mesh fixation with fibrin sealant alone (18.4 vs. 91.7%, P < 0.01). r-TAR trended toward lower morbidity (39.2 vs. 19.2%, P = 0.09), less severe complications, and similar rates of surgical site events and readmission (6.6 vs. 7.7%, P = 1.00). In addition, r-TAR resulted in a significantly shorter median hospital length of stay compared to o-TAR (6 days, 95% CI 5.9–8.3 vs. 3 days, 95% CI 3.2–4.3).

Conclusions

In select patients, the robotic surgical platform facilitates a safe, minimally invasive approach to complex abdominal wall reconstruction, specifically TAR. Robot-assisted TAR for VIH offers the short-term benefits of low morbidity and decreased hospital length of stay compared to open TAR.



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Laparoscopic left hepatectomy for mucinous cystic neoplasm of the liver

Abstract

Background

Among liver cystic lesions, mucinous cystic neoplasm of the liver (MCN-L) constitutes a challenging issue in terms of management: preoperative diagnosis is often unachievable and this may mislead to inappropriate treatment [13]. We present the case of an otherwise healthy 29-year-old female who underwent laparotomic cyst unroofing in segment 4 and cholecystectomy in another institution. Post-operative course was complicated by biliary leakage that was endoscopically treated. Short term follow-up showed early recurrence with a volumetric enlargement of the cyst occupying most of the left hepatic lobe and new satellite cyst in Sg5. The doubt of MCN-L arose, and the patient was scheduled for laparoscopic removal at our Centre, despite the previous laparotomic procedure.

Methods

An optic port was placed into right upper abdominal quadrant and 3 further ports were placed. A long and difficult adhesiolysis was performed and Pringle's manoeuver was settled. Intraoperative US confirmed the anatomic limits of the cysts in Sg5 and in the left hepatic lobe. The cyst on Sg5 was resected first and frozen section was suspicious for MCN-L. In order to prevent recurrence, left laparoscopic hepatectomy was performed. The specimen was extracted through the previous midline laparotomy.

Results

Post-operative course was uneventful and the patient was discharged on POD 5. Pathology and immunochemistry confirmed the diagnosis of MCN-L.

Conclusion

Hepatic cystic lesions may be insidious and preoperative biopsy is not always possible due to lack of solid tissue. In unclear settings, an intraoperative frozen section is mandatory to guide intraoperative decisions. In the suspicion of malignancy, resection with oncologic criteria must be chosen as the most appropriate treatment, as well as the retrieving of MCN-L requires hepatic resection to avoid early recurrence [4, 5]. Despite of previous laparotomy, we consider a laparoscopic approach could be attempted in selected cases, in institution with particular expertise in laparoscopic liver surgery.



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Transoral robotic thyroidectomy: lessons learned from an initial consecutive series of 24 patients

Abstract

Background

Transoral thyroid surgery is an ideal method for minimally invasive thyroidectomy, as there is less flap dissection during the procedure and no postoperative scars. Nonetheless, technical obstacles have precluded the wide dissemination of this procedure. We present the surgical procedures and outcomes of transoral robotic thyroidectomy (TORT).

Methods

From September 2012 to June 2016, we performed TORT at Korea University Hospital. We used three intraoral ports and a single axillary port for the system's four robotic arms. The surgical outcomes were retrospectively reviewed.

Results

Twenty-four female patients (mean age 39.6 ± 11.6 years; mean tumor size 1.0 ± 1.3 cm) underwent unilateral thyroid lobectomies with or without ipsilateral central neck dissection. Twenty patients had papillary thyroid carcinomas (PTC), three had benign nodules, and one had a follicular thyroid carcinoma. The mean surgical time was 232 ± 41 min; the mean hospital stay was 3.3 ± 0.8 days. The number of retrieved central lymph nodes in the PTC patients was 4.7 ± 3.2. There were no reports of transient or permanent vocal cord palsy, recurrence, or mortality during the median follow-up period of 16.8 months. Paresthesia of the lower lip and the chin due to mental nerve injury was observed in nine of the first 12 patients (six transient, three permanent), but no further reports of paresthesia were recorded after patient 12, when the locations of the intraoral incisions were modified.

Conclusions

TORT is feasible and safe for selected patients after technical refinements, and can be a potential alternative approach for scarless thyroid surgery.



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Comparative analysis of perioperative outcomes of robotic versus open transversus abdominis release

Abstract

Background

Transversus abdominis release (TAR) has evolved as an effective approach to complex abdominal wall reconstructions. Although the role of robotics in hernia surgery is rapidly expanding, the benefits of a robotic approach for abdominal wall reconstruction have not been established well. We aimed to compare the impact of the application of robotics to the TAR procedure on the perioperative outcomes when compared to the open TAR repairs.

Methods

Case-matched comparison of patients undergoing robotic TAR (R-TAR) at two specialized hernia centers to a matched historic cohort of open TAR (O-TAR) patients was performed. Outcome measures included patient demographics, operative details, postoperative complications, and length of hospitalization.

Results

38 consecutive patients undergoing R-TAR were compared to 76 matched O-TAR. Patient demographics were similar between the groups, but ASA III status was more prevalent in the O-TAR group. The average operative time was significantly longer in the R-TAR group (299 ± 95 vs.. 211 ± 63 min, p < 0.001) and blood loss was significantly lower for the R-TAR group (49 ± 60 vs. 139 ± 149 mL, p < 0.001). Wound morbidity was minimal in the R-TAR, but the rate of surgical site events and surgical site infection was not different between groups. Systemic complications were significantly less frequent in the R-TAR group (0 vs. 17.1%, p = 0.026). The length of hospitalization was significantly reduced in the R-TAR group (1.3 ± 1.3 vs. 6.0 ± 3.4 days, p < 0.001).

Conclusions

In our early experience, robotic TAR was associated with longer operative times. However, we found that the use of robotics was associated with decreased intraoperative blood loss, fewer systemic complications, shorter hospitalizations, and eliminated readmissions. While long-term outcomes and patient selection criteria for robotic TAR repair are under investigations, we advocate selective use of robotics for TAR reconstructions in patients undergoing AWR.



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Self-expandable metal stents for the extraction of common bile duct stones in patients receiving dual antiplatelet agents: a pilot study

Abstract

Background

Endoscopic sphincterotomy or endoscopic papillary balloon dilatation during endoscopic retrograde cholangiopancreatography (ERCP) are associated with a high risk of bleeding in patients receiving dual antiplatelet agents (APAs). However, the discontinuation of antiplatelet agents increases the risk of thromboembolic events in these patients. To date, the placement of self-expandable metal stents (SEMSs) in patients receiving dual APAs has not been well investigated. The aim of this study was to evaluate the feasibility and safety of SEMS placement for the removal of common bile duct (CBD) stones in patients in whom APAs were not discontinued.

Methods

Ten consecutive patients who were suspected of having CBD stones and who were receiving dual APAs were prospectively enrolled and underwent temporary SEMS placement, followed by stone extraction and SEMS removal. The patients continued taking dual APAs at the time of undergoing the procedure.

Results

SEMS placement was successful in all ten patients. Complete duct clearance with the SEMSs was achieved in a single session in all patients with CBD stones (9/9, 100%). One patient had cholangitis, but ERCP did not reveal biliary stones. There were no cases of bleeding during or after the procedure, even though all patients continued to take dual APAs. There were no new thromboembolic events.

Conclusions

SEMSs can be used for the extraction of CBD stones in patients on dual APAs, and does not lead to hemorrhagic or thromboembolic events.



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Associations Between Early Intervention Home Visits, Family Relationships and Competence for Mothers of Children with Developmental Disabilities

Abstract

Objectives To examine the association between intensity of home visits in early intervention (EI), perceived helpfulness of home visits in EI, and positive family relationships as predictors of maternal competence at age 3, as well as moderating effects of predictors, controlling for child characteristics, family demographics, and negative life events. Methods Data were drawn from the Early Intervention Collaborative Study (EICS), a 24-year longitudinal investigation of approximately 190 families of children with developmental disabilities who participated in EI programs in Massachusetts and New Hampshire. The primary analytic strategy was multivariable regression modeling. Each independent predictor was tested individually and then all together to build the final model. Interactions between independent predictors were also examined. Results After controlling for child and family characteristics and negative life events, the intensity of home visits was not significantly associated with maternal competence at age 3. However, the helpfulness of home visits (β = 2.94, S.E. = 1.12, p < .01) and positive family relationships (β = 5.11, S.E. = 1.08, p < .001) were associated with higher maternal competence when the child was 3 years old. Conclusions for Practice Recommendations for programs and policy include collecting life course data on families, particularly on their family relationships and experiences in EI and home visiting, assessing family relationships at the beginning of EI using a strengths-based perspective, and closely monitoring the quality of services.



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Physical Activity and Consumption Patterns of Reproductive-Aged Women by BMI Category

Abstract

Objectives Obesity before and during pregnancy is associated with adverse effects for mother and child, but little is known about physical activity and consumption patterns among reproductive-aged women. The goal of this study is to identify behaviors of nonpregnant reproductive-aged women associated with normal weight, overweight, and obesity. Methods Data from the nationally representative National Eating Trends survey (2003–2011) were analyzed, comparing number of days of exercise in a 1-week period and consumption of fruits/vegetables, sugar sweetened beverages (SSB), and concentrated sweets by BMI. Behaviors were compared using analysis of variance and Chi square test across groups. Ordinal logistic regression was used to compare behaviors across groups controlling for demographic factors. Multivariable Poisson regression was used to identify demographic factors associated with behaviors among obese women. Results Among 5941 18-45-year-old women, exercise and fruit/vegetable consumption were associated with healthy weight controlling for demographic factors. Reporting any exercise or fruit/vegetable consumption was associated with decreased odds of overweight or obesity (aOR 0.73, 95% CI 0.64–0.83 and aOR 0.74, 95% CI 0.58–0.95, respectively). Consuming SSBs was associated with increasing BMI category while consuming concentrated sweets was unexpectedly associated with normal weight. Among obese women, being on any diet was associated with increased exercise frequency and fruit/vegetable consumption and decreased SSB consumption. Conclusions for Practice Physical activity and consumption behaviors are associated with weight among reproductive-aged women in ways similar to those in the general population. Promoting exercise and fruit/vegetable consumption has the potential to reduce obesity.



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A novel fully covered double-bump stent for staple line leaks after bariatric surgery: a retrospective analysis

Abstract

Background

Staple line leakage after bariatric surgery can be treated by endoscopic placement of a self-expandable stent. The success rate of stent placement is generally high, but migration is a frequent adverse event that hampers successful treatment. The Niti-S Beta stent is a fully covered double-bump stent that was specifically designed to prevent migration. This study aimed to evaluate the effectiveness and adverse event rate of the Niti-S Beta stent.

Methods

A retrospective study was performed in three high-volume bariatric centers. All consecutive patients between 2009 and 2016 who underwent placement of a Beta stent for staple line leakage were included. Primary outcome was resolution of the leakage; secondary outcome was the adverse event rate including migration.

Results

Thirty-eight patients were included. Twenty-five (66%) had resolution of the leakage. Success rate was higher in patients who were treated with implantation of a Beta stent as initial treatment (100%) than in patients who were treated with a stent after revisional surgery had failed (55%, p = 0.013). Migration occurred in 12 patients (32%). There were two severe adverse events requiring surgical intervention, including a bleeding from an aorto-esophageal fistula.

Conclusions

The success rate and the migration rate of the Beta stent seem comparable to other stents in this retrospective study. Despite the novel double-bump structure of the stent, the migration rate does not seem to be decreased.



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Endoscopic treatment of walled-off pancreatic necrosis complicated with pancreaticocolonic fistula

Abstract

Background

Pancreaticocolonic fistulas (PCFs) are serious complication of acute pancreatitis related with high mortality. The aim of this study was to evaluate the efficiency and safety of endoscopic treatment in patients with walled-off pancreatic necrosis (WOPN) complicated with PCF.

Methods

This is a retrospective analysis of results and complications in the group of 226 patients, who underwent endoscopic treatment of symptomatic WOPN between years 2001 and 2016 in the Department of Gastroenterology and Hepatology of Medical University of Gdańsk.

Results

PCF was recognized in 21/226 (9.29%) patients. Transmural drainage was performed in 20/21 (95.24%) patients. Transpapillary drainage was used in 2/21 (9.52) patients. The mean time since the start of endotherapy to the diagnosis of a fistulas was 9 (3–21) days. Fluoroscopic nasocystic tube-check imaging of an existing drain was the initial imaging diagnosis of a PCF in 19/21 (90.48%) patients. The mean duration of endoscopic drainage of WOPN was 39.29 (15–87) days. Procedure-related adverse events occurred in 10/21 (47.62%) patients and most of them were treated conservatively. Three patients required surgical treatment. One patient died during endotherapy. The closure of PCF was confirmed via imaging in 17/21 (80.95%) patients. The average time since the recognition till the closure of PCF was 21 (14–48) days. Complete therapeutic success of WOPN complicated with PCF was reached in 16/21 (76.19%) patients. Long-term success of endoscopic treatment was achieved in 15/21 (71.43%) patients.

Conclusions

Endoscopic treatment of patients with WOPN complicated with PCF is an effective method with an acceptable number of complications. The complete regression of the WOPN may lead to spontaneous closure of pancreaticocolonic fistulas.



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AI technology helping dispatchers detect cardiac arrest

Corti, an AI assistant, uses speech recognition software to analyze the conversation and alert dispatchers if the caller is experiencing sudden cardiac arrest

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Intracorporeal versus extracorporeal anastomosis after laparoscopic left colectomy for splenic flexure cancer: results from a multi-institutional audit on 181 consecutive patients

Abstract

Although intracorporeal anastomosis has been demonstrated to be safe and effective after right colectomy, limited data are available about its efficacy after left colectomy for colon cancer located in splenic flexure. A multi-institutional audit was designed, including 92 patients who underwent laparoscopic left colectomy with intracorporeal anastomosis (IA) compared with 89 matched patients who underwent a laparoscopic left colectomy with extracorporeal anastomosis (EA). There was no significant difference in terms of age, sex, BMI, and ASA score between the two groups. Post-surgical history and stage of disease according to AJCC/UICC TNM were also similar. IA and EA groups demonstrated similar oncologic radicality in terms of the number of lymph nodes harvested (18.5 ± 9 vs. 17.5 ± 8.4; p = 0.48). Recovery after surgery was also better in patients who underwent IA, as confirmed by the shorter time to flatus in the IA group (2.6 ± 1.1 days vs. 3.4 ± 1.2 days; p < 0.001) and higher post-operative pain expressed in the mean VAS Scale in the EA group (1.7 ± 2.1 vs. 3.5 ± 1.6; p < 0.001). Laparoscopic left colectomy with intracorporeal anastomosis was associated with a lower rate of post-operative complications (OR 6.7, 95% CI 2.2–20; p = 0.001). However, when stratifying according to Clavien classification, the difference was consistently confirmed for less severe (class I and II) complications (OR 7.6, 95% CI 2.5–23, p = 0.001) but not for class III, IV, and V complications (OR 1.8, 95% CI 0.1–16.9; p = 0.59). Our results were consistent to hypothesize that a complete laparoscopic approach could be considered a safe method to perform laparoscopic left colectomy with the advantage of a guaranteed faster recovery after surgery. Further randomized clinical trials are needed to obtain a more definitive conclusion.



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SAGES’s advanced GI/MIS fellowship curriculum pilot project

Abstract

Background

The American health care system faces deficits in quality and quantity of surgeons. SAGES is a major stakeholder in surgical fellowship training and is responsible for defining the curriculum for the Advanced GI/MIS fellowship. SAGES leadership is actively adapting this curriculum.

Methods

The process of reform began in 2014 through a series of iterative meetings and discussions. A working group within the Resident and Fellow Training Committee reviewed case log data from 2012 to 2015. These data were used to propose new criteria designed to provide adequate exposure to core content. The working group also proposed using video assessment of an MIS case to provide objective assessment of competency.

Results

Case log data were available for 326 fellows with a total of 85,154 cases logged (median 227 per fellow). The working group proposed new criteria starting with minimum case volumes for five defined categories including foregut (20), bariatrics (25), inguinal hernia (10), ventral hernia (10), and solid organ/colon/thoracic (10). Fellows are expected to perform an additional 75 complex MIS cases of any category for a total of 150 required cases overall. The proposal also included a minimum volume of flexible endoscopy (50) and submission of an MIS foregut case for video assessment. The new criteria more clearly defined which surgeon roles count for major credit within individual categories. Fourteen fellowships volunteered to pilot these new criteria for the 2017–2018 academic year.

Conclusions

The new SAGES Advanced GI/MIS fellowship has been crafted to better define the core content that should be contained in these fellowships, while still allowing sufficient heterogeneity so that individual learners can tailor their training to specific areas of interest. The criteria also introduce innovative, evidence-based methods for assessing competency. Pending the results of the pilot program, SAGES will consider broad implementation of the new fellowship criteria.



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Prospective analysis of delayed colorectal post-polypectomy bleeding

Abstract

Backgrounds/aims

Although post-polypectomy bleeding is the most frequent complication after colonoscopic polypectomy, only few studies have investigated the incidence of bleeding prospectively. The aim of this study was to investigate the incidence of delayed post-polypectomy bleeding and its associated risk factors prospectively.

Methods

Patients who underwent colonoscopic polypectomy at Kangbuk Samsung Hospital from January 2013 to December 2014 were prospectively enrolled in this study. Trained nurses contacted patients via telephone 7 and 30 days after polypectomy and completed a standardized questionnaire regarding the development of bleeding. Delayed post-polypectomy bleeding was categorized as minor or major and early or late bleeding. Major delayed bleeding was defined as a > 2-g/dL drop in the hemoglobin level, requiring hospitalization for control of bleeding or blood transfusion; late delayed bleeding was defined as bleeding occurring later than 24 h after polypectomy.

Results

A total of 8175 colonoscopic polypectomies were performed in 3887 patients. Overall, 133 (3.4%) patients developed delayed post-polypectomy bleeding. Among them, 90 (2.3%) and 43 (1.1%) patients developed minor and major delayed bleeding, respectively, and 39 (1.0%) patients developed late delayed bleeding. In the polyp-based multivariate analysis, young age (< 50 years; odds ratio [OR] 2.10; 95% confidence interval [CI] 1.18–3.68), aspirin use (OR 2.78; 95% CI 1.23–6.31), and polyp size of > 10 mm (OR 2.45; 95% CI 1.38–4.36) were significant risk factors for major delayed bleeding, while young age (< 50 years; OR 2.6; 95% CI 1.35–5.12) and immediate bleeding (OR 3.3; 95% CI 1.49–7.30) were significant risk factors for late delayed bleeding.

Conclusions

Young age, aspirin use, polyp size, and immediate bleeding were found to be independent risk factors for delayed post-polypectomy bleeding.



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Laparoscopic intracorporeal rectus aponeuroplasty (LIRA technique): a step forward in minimally invasive abdominal wall reconstruction for ventral hernia repair (LVHR)

Abstract

Background

Closing the defect (CD) during laparoscopic ventral hernia repair began to be performed in order to decrease seroma, to improve the functionality of the abdominal wall, and to decrease the bulging effect. However, tension at the incision after CD in large defects is related to an increased rate of pain and recurrence. We present the preliminary results of a new technique for medium midline hernias as an alternative to conventional CD.

Methods

A prospective controlled study was conducted from January 2015 to January 2017 to evaluate an elective new procedure (LIRA) performed on patients with midline ventral hernias (4–10 cm width). The posterior rectus aponeurosis was opened lengthwise around the hernia defect using a laparoscopic approach to create two flaps and was then sutured. The size of the flaps was estimated using a mathematical formula. An on-lay mesh was placed intraperitoneal overlapping the fascia defect. The data analyzed included patient demographics, operative parameters, and complications. A computerized tomography was performed preoperatively and postoperatively (1 month and 1 year) to evaluate recurrence, distance between rectus and seroma.

Results

Twelve patients were included. Mean width of the defect was 5.5 cm. Average VAS (24 h) was 3.9, 1.1 (1 month), and 0 (1 year). Mean preoperative distance between rectus was 5.5 cm; postoperative was 2.2 cm (1 year). Radiological seroma at first month was detected in 50%. Mean follow-up was 15 months.

Conclusion

The LIRA technique could be considered as an alternative to conventional CD or endoscopic component separation for medium defects under 10 cm in width. This technique obtained a "no tension" effect that could be related to a lower rate of postoperative pain with no recurrence or bulging, being a safe, feasible, and reproducible technique.



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Colonoscopy-induced acute diverticulitis: myth or reality?

Abstract

Background

Colonoscopy in patients with diverticulosis can be technically challenging and limited data exist relating to the risk of post-colonoscopy diverticulitis. Our aim was to evaluate the incidence, management, and outcomes of acute diverticulitis following colonoscopy.

Methods

Study design is retrospective cohort study. Data were gathered by conducting an automated search of the electronic patient database using current procedural terminology and ICD-9 codes. Patients who underwent a colonoscopy from 2003 to 2012 were reviewed to find patients who developed acute diverticulitis within 30 days after colonoscopy. Patient demographics and colonoscopy-related outcomes were documented, which include interval between colonoscopy and diverticulitis, colonoscopy indication, simultaneous colonoscopic interventions, and follow-up after colonoscopy.

Results

From 236,377 colonoscopies performed during the study period, 68 patients (mean age 56 years) developed post-colonoscopy diverticulitis (0.029%; 2.9 per 10,000 colonoscopies). Incomplete colonoscopies were more frequent among patients with a history of previous diverticulitis [n = 10 (29%) vs. n = 3 (9%), p = 0.03]. Mean time to develop diverticulitis after colonoscopy was 12 ± 8 days, and 30 (44%) patients required hospitalization. 34 (50%) patients had a history of diverticulitis prior to colonoscopy. Among those patients, 14 underwent colonoscopy with an indication of surveillance for previous disease. When colonoscopy was performed within 6 weeks of a diverticulitis attack, surgical intervention was required more often when compared with colonoscopies performed after 6 weeks of an acute attack [n = 6 (100%) vs. n = 10 (36%), p = 0.006]. 6 (9%) out of 68 patients received emergency surgical treatment. 15 (24%) out of 62 patients who had non-surgical treatment initially underwent an elective sigmoidectomy at a later date. Recurrent diverticulitis developed in 16 (23%) patients after post-colonoscopy diverticulitis.

Conclusions

Post-colonoscopy diverticulitis is a rare, but potentially serious complication. Although a rare entity, possibility of this complication should be kept in mind in patients presenting with symptoms after colonoscopy.



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Laparoscopic conversion in colorectal cancer surgery; is there any improvement over time at a population level?

Abstract

Conversion of laparoscopic colorectal cancer resection has been associated with worse outcome, but this might have been related to a learning curve effect. This study aimed to evaluate incidence, predictive factors and outcomes of laparoscopic conversion after the implementation phase of laparoscopic surgery at a population level. Patients undergoing elective resection of non-locally advanced, non-metastatic colorectal cancer between 2011 and 2015 were included. Data were extracted from the Dutch Surgical Colorectal Audit. Patients were grouped as laparoscopic completed (LR), laparoscopic converted (CONV) with further specification of timing (within or after 30 min) as registered in the DSCA, and open resection (OR). Uni- and multi-variate analyses were used to determine predictors of conversion and outcome (complicated course and mortality), with evaluation of trends over time. A total of 23,044 patients with colon cancer and 11,324 with rectal cancer were included. Between 2011 and 2015, use of laparoscopy increased from 55 to 84% in colon cancer, and from 49 to 89% in rectal cancer. Conversion rates decreased from 11.8 to 8.6% and from 13 to 8.0%, respectively. Laparoscopic hospital volume was independently associated with conversion rate. Only for colon cancer, the rate of complicated course was significantly higher after CONV compared to OR (adjusted odds ratio 1.486; 95% CI 1.298–1.702), and significantly higher after late (> 30 min) compared to early conversion (adjusted odds ratio 1.341; 1.046–1.719). There was no impact of CONV on mortality in both colon and rectal cancer. The use of laparoscopic colorectal cancer surgery increased to more than 80% at a national level, accompanied by a decrease in conversion which is significantly related to the laparoscopic hospital volume. Conversion was only associated with complicated course in colon cancer, especially when the reason for conversion consisted of an intra-operative complication, without affecting mortality.



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The feasibility and efficacy of pure laparoscopic repeat hepatectomy

Abstract

Background

Repeat hepatectomy is often required for hepatocellular carcinoma and metastatic tumors. However, this procedure is technically challenging, so laparoscopic repeat hepatectomy (LRH) has not been widely adopted. The aim of this study was to evaluate the feasibility and efficacy of LRH compared with open repeat hepatectomy (ORH) and laparoscopic primary hepatectomy (LPH).

Methods

We introduced laparoscopic hepatectomy at our institution in April 2014. We performed 127 LPH (LPH group) and 33 LRH procedures (LRH group) from April 2014 to April 2017; 37 patients underwent ORH from January 2010 to April 2017 (ORH group). This study retrospectively compared the patient characteristics and short-term outcomes of the LRH and ORH groups as well as the LRH and LPH groups.

Results

There were no conversions to open surgery in the LRH group. In comparing the LRH and ORH groups, there were no significant differences in patient characteristics except for the type of approach to the previous hepatectomy (p = 0.004) and indocyanine green retention rate at 15 min (median 12.5 vs. 8.75%, p = 0.026). The LRH group had less blood loss (median 30 mL vs. 652 mL; p < 0.001), less intraoperative transfusion (6.1 vs. 32.4%; p = 0.006), and shorter postoperative hospital stays (median 6.5 days vs. 9.0 days; p < 0.001). There were no differences with regard to operation time, severe postoperative complications, and mortality. In comparing the LRH and LPH groups, there was a significant difference only in past history of abdominal surgery (100 vs. 61.4%; p < 0.001). In the short-term outcomes, the postoperative hospital stay was significantly shorter in the LRH group (median 6.5 days vs. 7 days; p = 0.033), and the other results were comparable between the two groups.

Conclusions

LRH is feasible and useful for repeat hepatectomy, achieving good short-term outcomes.



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Agreement of Musculoskeletal Ultrasound and Clinical Assessment of Shoulder Impairment in Manual Wheelchair Users with Various Duration of Spinal Cord Injury

Publication date: Available online 12 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Margaret Finley, David Ebaugh, Thomas Trojian
ObjectiveTo determine agreement of musculoskeletal ultrasound (MSK-US) findings of shoulder pathology and related shoulder special test results in individuals with varied duration of manual wheelchair (MWC) use following spinal cord injury (SCI) and determine if shoulder musculoskeletal impairments, per MSK-US and clinical examination, differed in individuals with SCI and varying duration of MWC use.DesignCross-sectional cohort studySettingLaboratory settingParticipantsTwenty-three adult volunteers with SCI who used a MWC for community mobility. Individuals were stratified into three groups based on duration of MWC use (years): < 5, 5-15, >15.InterventionsNot applicableMain Outcome Measure(s)Special tests for shoulder impingement and bicipital tendonitis, were performed. Bilateral shoulder MSK-US was performed with the Ultrasound Shoulder Pathology Rating Scale (USPRS) quantifying biceps tendon, supraspinatus tendon, and greater tuberosity cortical surface impairments.ResultsNo agreement was found between MSK-US and related special tests. Special tests failed to identify impairment in 33.3%-100% of those identified on MSK-US. Total USPRS score was highest in those with >15 years MWC use. Higher proportion of dynamic impingement (supraspinatus and biceps) was found in those >15 years with other MSK-US items having moderate effect sizes among duration use groups.ConclusionsMSK-US identified shoulder impairments more frequently than commonly utilized special tests. A significant increase in the presence of MSK-US shoulder impairments was identified in the longest duration group. This was not the case for special tests or pain. MSK-US is an easily administered, low cost, non-invasive method for determining shoulder impairments and should be used in routine screening of individuals who use a MWC following SCI.



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The effects of functional training, bicycle exercise and exergaming on walking capacity of elderly with Parkinson's disease: a pilot randomized controlled single-blinded trial

Publication date: Available online 11 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Daniel Dominguez Ferraz, Karen Valadares Trippo, Gabriel Pereira Duarte, Mansueto Gomes Neto, Kionna Oliveira Bernardes Santos, Jamary Oliveira Filho
ObjectivesTo compare the effects of functional training, bicycle exercise and exergaming on walking capacity of elderly with Parkinson disease (PD).DesignA pilot randomized controlled single-blinded trial.SettingA State Reference Health Care Centre for Elderly, a public reference outpatient clinic for the elderly.ParticipantsSixty-two elderly individuals (≥60 years-old) with idiopathic PD (stage 2 to 3 of modified Hoehn and Yahr) according to the London Brain Bank.InterventionThe participants were randomized into three groups. Group 1 (G1) was submitted to functional training (n=22), Group 2 (G2) performed bicycle exercise (n=20) and Group 3 (G3) trained with Kinect Adventures exergames (n=20).Main Outcome MeasuresThe primary outcome measure was the 6-minute walk test (6MWT); secondary outcome measures were the 10-meters walk test (10MWT), sitting-rising test (SRT), body mass index, Parkinson Disease Questionnaire-39, World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) and 15-item Geriatric Depression Scale.ResultsAll groups showed significant improvements in 6MWT (G1 p=0.008; G2 p=0.001; G3 p=0.005), SRT (G1 p<0.001; G2 p=0.001; G3 p=0.003) and WHODAS 2.0 (G1 p=0.018; G2 p=0.019; G3 p=0.041). Only G3 improved gait speed in 10MWT (p=0.011). G1 (p=0.014) and G3 (p=0.004) improved quality of life. No difference was found between groups.Conclusion8-weeks of exergaming are able to improve walking capacity of elderly PD patients. Exergame training had similar outcomes compared with functional training and bicycle exercise. The three physical exercise modalities presented significant improvements on walking capacity, ability to stand up and sit and functionality of the participants.



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Moderators Of Treatment Outcomes Following Telehealth Self-Management And Education In Adults With Multiple Sclerosis: A Secondary Analysis Of A Randomized Controlled Trial

Publication date: Available online 11 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Dawn M. Ehde, Anne Arewasikporn, Kevin N. Alschuler, Abbey J. Hughes, Aaron P. Turner
ObjectiveTo examine moderators of treatment effects in a randomized controlled trial comparing a telehealth self-management intervention to a telehealth MS education intervention for fatigue, pain, and mood in adults with multiple sclerosis (MS).DesignSecondary analysis of a single-blind randomized controlled trial.Setting: community.ParticipantsAdults with MS and chronic fatigue, chronic pain, and/or moderate depressive symptoms (N=163) recruited from across the United States.InterventionsTwo 8-week, telephone-delivered symptom interventions delivered 1:1: a self-management intervention (n=75) and an MS education intervention (n=88).Main Outcome MeasuresOutcome measures were fatigue impact, pain interference, and depressive symptom severity assessed at baseline and post-treatment. Potential moderators of treatment effects assessed at baseline were: demographics (age, sex, and education), clinical characteristics (disease duration and disability severity), symptoms (perceived cognitive impairment, pain intensity), baseline levels of the treatment outcomes (pain interference, fatigue impact, and depressive symptom severity), and cognitive-behavioral factors (pain catastrophizing, fatigue catastrophizing, self-efficacy, and patient activation).ResultsModeration analyses found significant moderation for fatigue impact but not for pain intensity or depressive symptom severity. Baseline patient activation interacted with treatment group to predict fatigue impact at post-treatment (p = .049). Among participants with high baseline patient activation, the self-management group reported significantly less fatigue at post-treatment compared to the education group. No other variables moderated the study outcomes.ConclusionsAt the group level, participants responded to both interventions, regardless of disease characteristics, demographics, symptom levels, and cognitive-behavioral factors. Self-management and education are both potentially beneficial symptom treatments that may be recommended to individuals with MS and chronic pain, fatigue, and/or depressive symptoms.



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Changing physical activity behavior in people with Multiple Sclerosis: A Systematic Review and Meta-Analysis

Publication date: Available online 11 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Blathin Casey, Susan Coote, Sara Hayes, Stephen Gallagher
ObjectiveTo systematically review the literature on behavioural interventions for people with Multiple Sclerosis (pwMS) that aim to change physical activity (PA) behaviour. To explore if these interventions are clinically-effective in improving PA, theory-based and employ established behaviour change techniques (BCTs).Data SourcesA systematic electronic search was conducted on databases EBSCO (including AMED, Biomedical Reference Collection: Expanded, CINHAL, MEDLINE, PsycArticles, PsycInfo), PubMed, EMBASE, and Web of Science from April 2017 to May 2017.Study SelectionStudies were included if 1) the interventions aimed to change PA behaviour among people with MS , 2) PA was recognised as a primary outcome measure and 3) were of randomised control design (RCT).Data ExtractionThe resulting behavioural interventions were coded using 'The Theory Coding Scheme' and the 'CALO-RE Taxonomy' to assess theory-base and BCTs. A meta-analysis was conducted to assess effectiveness.Data SynthesisFourteen randomised controlled trials (RCTs) were included. Combined, there was a significant (p =0.0003, d=1.00, CI's= 0.46, 1.53) short-term change in self-report PA behaviour for studies with non-active control groups. There was no change in objective or long-term PA. Studies failed to discuss results in relation to theory and did not attempt to refine theory. 50% of BCTs within the CALO-RE were employed with BCTs of 'goal-setting' and 'action-planning' being the most frequently employed.ConclusionCurrent evidence supports the efficacy of PA intervention on subjective but not objective outcomes. However, conclusions from this review should be interpreted with caution due to the low of number of studies included and low sample size. Further, whilst using theory in intervention design, these interventions have not reported the refining of theory. Exploration of the use of additional BCTs to change PA behaviour is also required within future interventions.



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Reaction Time and Joint Kinematics during Functional Movement in Recently Concussed Individuals

Publication date: Available online 11 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Robert C. Lynall, J. Troy Blackburn, Kevin M. Guskiewicz, Stephen W. Marshall, Prudence Plummer, Jason P. Mihalik
ObjectiveTo compare movement reaction time and joint kinematics between recently concussed and matched control recreational athletes during 3 functional tasks.DesignCross-sectional.SettingLaboratory.ParticipantsThirty college-aged recreational athletes comprising two groups (15 participants each): 1) Recent concussion group (median time since concussion 126 days, range 28-432 days), and 2) Age- and sex-matched control group with no recent concussions.InterventionsWe investigated movement reaction time and joint kinematics during 3 tasks: 1) Jump-landing, 2) Anticipated-cut, and 3) Unanticipated-cut.Main Outcome MeasuresReaction time and reaction time cost (reaction timejump landing–reaction timecut/reaction timejump landingx100%), along with trunk, hip, and knee joint angles in the sagittal and frontal planes at initial ground contact.ResultsThere were no reaction time between-group differences, but the control group displayed improved reaction time cost (10.7%) during anticipated cutting as compared to the concussed group (0.8%; p=0.030). The control group displayed less trunk flexion than the concussed group during the non-dominant anticipated cut (5.1° difference; p=0.022). There were no other kinematic between-group differences (p≥0.079).ConclusionsWe observed subtle reaction time and kinematic differences between recently concussed and non-concussed individuals more than a month after return-to-activity following concussion. The clinical interpretation of these findings remains unclear, but may have future implications for post-concussion management and rehabilitation.



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Objective Sleep Measures in Subacute Stroke Inpatients Associated with Levels and Improvements in Activities of Daily Living

Publication date: Available online 12 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Ren-Jing Huang, Ching-Hsiang Lai, Shin-Da Lee, Fang-Yu Pai, Shen-Wen Chang, Ai-Hui Chung, Yi-Fang Chang, Hua Ting
ObjectiveTo investigate whether objective polysomnographic measures of prevalent sleep problems such as sleep-disordered-breathing (SDB) and insomnia are associated with activities of daily living levels in inpatients at rehabilitation unitsDesignRetrospective and observational studySettingSingle rehabilitation centerParticipantsOne hundred twenty-three enrolled subacute stroke inpatients (61.6 ± 13.1 years; 23.8 ± 3.4 kg/m2; 33% female; 90.5 ± 36.7 days post-stroke) underwent a one-night polysomnography study and one-month-long inpatient rehabilitation program.Main outcome measuresAdmission and discharge Barthel Index (BI) scores and its change scoresResultsOne hundred three (92%) patients had moderate-to-severe SDB (46.7 ± 25.1 events/h in the apnea-hypopnea index), and 24 (19.5%) patients had acceptable continuous positive airway pressure adherence. Diverse values were found for total sleep time (259 ± 71 min), sleep efficiency (69.5 ± 19.3%), sleep latency (24.3 ± 30.9 min), and wakefulness after sleep onset (93.1 ± 74.2 min). Admission BI scores and BI change scores were 33.8 ± 23.2 and 10.1 ± 9.2, respectively. The National Institutes of Health Stroke Score (NIHSS, 10.2 ± 5.6), available in 57 (46%) patients, was negatively associated with admission levels and gains in BI change scores (p <0.001, =0.002, respectively) in a univariate analysis. In regression models with backward selection, excluding NIHSS, both age (p = 0.025) and wakefulness after sleep onset (p <0.001) were negatively associated (adjusted R2 = 0.260) with admission BI scores. Comorbidity of hypertension, sleep latency, percentage of stage 1, non-rapid-eye-movement sleep and desaturation events ≥4% (p <0.001, 0.001, 0.021, and 0.043, respectively; adjusted R2 = 0.252) were negatively associated with BI score gains.ConclusionsBased on objective sleep measures, insomnia rather than SDB in subacute stroke inpatients was associated negatively with admission levels of activity of daily living and its improvement after a one-month rehabilitation course.



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Prevalence and Predictors of Symptom Resolution and Functional Restoration in the Index Knee Following Knee Arthroplasty: A Longitudinal Study

Publication date: Available online 9 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Daniel L. Riddle
ObjectivesTo determine the prevalence of a one- to two-year postsurgical pain-free state and pain plus symptom-free state as well as function restoration following knee arthroplasty (KA). A second purpose was to identify predictors of these outcomes.DesignAn inception cohort from the Osteoarthritis Initiative (OAI) dataset, a nine-year NIH funded cohort study of persons with or at high risk for knee osteoarthritis was studied.SettingSubjects were recruited from the communities of four sites in the Midwest, Eastern and Southeastern United States.ParticipantsConsecutive persons from the OAI who underwent KA over the first 8 years of study were included. The average age of the sample was 67.95 (sd = 8.5) years and 61.4% were female. Postoperative data were collected, on average, 558 days (SD = 114) following surgery.Main Outcome MeasuresA composite pain score included the Western Ontario McMaster Universities' Osteoarthritis Index (WOMAC) Pain scale and two generic pain rating scales. Composite pain plus other symptoms scores included the three pain scales, a stiffness scale and, in addition, the Knee injury and Osteoarthritis Outcome Score (KOOS) Symptoms scale. The WOMAC Function scale was used to quantify functional status. Prevalence estimates and predictors of a pain-free state, symptom-free state and a fully functioning state were determined.ResultsA sample of 383 persons with KA was studied and of these, 34.1% (95%CI = 29.3%, 39.2%) had a composite score of 0 for pain. A total of 14.1% (95%CI = 10.8%, 18.1%) had a composite score of 0 indicating a symptom-free state, while 29.0% (95% CI = 24.4%, 34.0%) achieved a score of 0 for WOMAC Function.ConclusionThe prevalence of complete pain relief was 34%, complete pain and symptom relief was 14%, and complete functional restoration was 29% following KA. Persons who are older and persons with lower (better) WOMAC pain scores were more likely to be pain-free following surgery. These data collected from a community-based sample have the potential to inform clinicians screening patients for KA consultation in a shared decision-making discussion to better align expectations with likely outcome.



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Motor Skill Interventions in Children with Developmental Coordination Disorder: A Systematic Review and Meta-Analysis

Publication date: Available online 9 January 2018
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Jane J. Yu, Cindy H.P. Sit, Angus F. Burnett
ObjectivesTo determine the characteristics and effectiveness of motor skill interventions in children with developmental coordination disorder (DCD) and to identify potential moderators of training effects using meta-analysis.Data SourcesA search was conducted in six databases (CINAHL Plus, Cochrane Library, Embase, Eric, PsycInfo, and PubMed) for papers published between 1995 and August 2017 using search items which were grouped in three components (motor skill interventions, DCD, and age group of interest).Study SelectionStudies were included if they have recruited children with DCD aged 3-17 years, reported performance of motor-related skills as outcomes, published in peer-reviewed journals, and written in English. Qualitative synthesis was conducted for all included studies. Quantitative synthesis (meta-analysis) was only conducted for studies using a (quasi) randomized controlled trial design.Data ExtractionMethodology, participant characteristics, intervention components, outcomes, and the statistically significant training effects of each included study were extracted.Data SynthesisSixty-six studies met the inclusion criteria with 18 of the studies eligible for meta-analysis. Motor performance as well as cognitive, emotional, and other psychological factors were the most common outcomes. Other three outcome categories included perceptions and/or satisfaction regarding the children's improvement from significant others, physical fitness, and physical activity and participation. Immediate and moderate training effects were found for motor performance (Hedges' g=0.63, 95% CI [0.31, 0.94], p<0.001) and for cognitive, emotional, and other psychological factors (Hedges' g=0.65, 95%CI [0.25, 1.04], p=0.001). Additionally, dose (minutes in total) and frequency of the intervention were significant moderators of training effect on motor performance.ConclusionsMotor skill interventions are effective in improving motor competence as well as performance on cognitive, emotional, and other psychological aspects in children with DCD in the short term. These effects are more robust in interventions utilizing a large training dose and a practicing schedule of high frequency.



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Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA

Abstract

Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in muscles and nerves and may be caused by mutations in mitochondrial (mtDNA) or nuclear (nDNA) genomes. Most of the proteins involved in respiratory chain function are nuclear encoded, although 13 subunits of respiratory chain complexes (together with 2 rRNAs and 22 tRNAs necessary for their translation) encoded by mtDNA are essential for cell function. nDNA encodes not only respiratory chain subunits but also all the proteins responsible for mtDNA maintenance, especially those involved in replication, as well as other proteins necessary for the transcription and copy number control of this multicopy genome. Mutations in these genes can cause secondary instability of the mitochondrial genome in the form of depletion (decreased number of mtDNA molecules in the cell), vast multiple deletions or accumulation of point mutations which in turn leads to mitochondrial diseases inherited in a Mendelian fashion. The list of genes involved in mitochondrial DNA maintenance is long, and still incomplete.



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ZOLL 2018 PULSE Awards open for nominations

CHELMSFORD, Mass. — ZOLL® Medical Corporation, an Asahi Kasei Group Company that manufactures medical devices and related software solutions, today announced that the 2018 ZOLL PULSE Awards is now open for nominations. Nominations can be submitted online between now and March 16. The winners will be announced at SUMMIT, ZOLL's annual user conference held May 8-10 in Denver. The intent ...

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Quick take: Quality and safety gain prominence at NAEMSP

SAN DIEGO — The National Association of EMS Physicians started its 2018 Annual Meeting with a day-long session aimed at introducing EMS medical directors to some fundamental quality and safety concepts. The course was designed to be an interactive application of these concepts to a crowd that is not traditionally well-versed on the topics. The instructors used the System of Profound Knowledge ...

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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz–Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly.



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Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome

Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified. She was subsequently discharged without surgical intervention and is now 2 years old with mild neurodevelopmental delays. Images of cerebral hyperechogenicity by fetal ultrasonography in a non-lethal case were described herein for the first time. This patient represents a rare occurrence of a child with Raine syndrome born to Japanese parents and confirms that this syndrome is not always lethal. Even if Raine syndrome is suspected in a fetus due to cerebral hyperechogenicity and a hypoplastic nose, cerebral hyperechogenicity without pulmonary hypoplasia does not always predict lethality or severe neurodevelopmental delays. The information provided herein will be useful for prenatal counseling.



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Somatic mosaic deletions involving SCN1A cause Dravet syndrome

Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. The allele frequency of the mosaic deletions estimated by multiplex ligation-dependent probe amplification and array comparative genomic hybridization was 25–40%, which was comparable to the mosaic ratio in lymphocytes and buccal mucosa cells observed by fluorescence in situ hybridization analysis. The minimal prevalence of SCN1A mosaic deletion is estimated to be 0.9% (95% confidence level: 0.11–3.11%) of DS with negative for SCN1A and PCDH19 mutations. This study reinforces the importance of somatic mosaicism caused by copy number variations in disease-causing genes, and provides an alternative spectrum of SCN1A mutations causative of DS. Somatic deletions in SCN1A should be considered in cases with DS when standard screenings for SCN1A mutations are apparently negative for mutations.



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Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described. The relationship of the immunodeficiency to the deletion breakpoints has been understudied due to the infrequent analysis of people carrying smaller deletions. This manuscript will review the immune deficiency in 22q11.2 deletion syndrome and describe differences in the T cell counts related to the deletion breakpoints. Distal, non-TBX1 inclusive deletions, were found to be associated with better T cell counts. Another new finding is the relative preservation of T cell counts in those patients with a 22q11.2 duplication.



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A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5-bp duplication in the open-reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype.



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Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus

Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing. Our two newly described children, as well as the previously published ones, all shared several features including severe infantile-onset hydrocephalus, mild to severe intellectual delay, varying degrees of motor delay, and infantile onset seizures. All identified homozygous mutations in CCDC88C abolish the PDZ binding site necessary for proper CCDC88C protein function in the Wnt signaling pathway. Our report further establishes CCDC88C as one of the few known recessive causes of severe prenatal-onset hydrocephalus. Recognition of this syndrome has important diagnostic and genetic implications for families identified in the future.



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Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype

Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1. In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low-copy repeats (LCRs) designated "K" and "L" were reported with intellectual disability and epilepsy. Duplication of a second more distal region has been described as the cause of the Int22h-1/Int22h-2 Mediated Xq28 Duplication Syndrome, characterized by intellectual disability, psychiatric problems, and recurrent infections. We report two additional families possessing the K/L-mediated Xq28 duplication with affected males having intellectual disability and epilepsy similar to the previously reported phenotype. To our knowledge, this is the second cohort of individuals to be reported with this duplication and therefore supports K/L-mediated Xq28 duplications as a distinct syndrome.



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