Auditory Dysfunction in Patients with Huntington’s Disease

Huntington's disease (HD) is an autosomal, dominant neurodegenerative disease, caused by the multiplication of a cytosine-adenine-guanine (CAG) trinucleotide (triplet). The main clinical features of HD are motor impairment, progressive cognitive deterioration and behavioral disorders (for detailed information see Bates et al., 2014).

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Physical Function after Total Knee Replacement: An observational study describing outcomes in a small group of women from China and the United States

Publication date: Available online 29 July 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Daniel K. White, Zhichang Li, Yuqing Zhang, Adam R. Marmon, Hiral Master, Joseph Zeni, Jingbo Niu, Long Jiang, Shu Zhang, Jianhao Lin
ObjectiveTo describe physical function before and six months after Total Knee Replacement (TKR) in a small sample of women from China and the United States (US).Participants60 women after TKR from China and the USDesign, Setting, Outcomes: Data was from an observational study of TKR outcomes in Newark, Delaware (US group) and a control group after TKR in Beijing (China group). Both groups followed the same Osteoarthritis Research Society International (OARSI) protocols for the six-minute walk and 30-second chair stand. We compared physical function prior to TKR and six months after using linear regression adjusted for covariates.ResultsAge and BMI were similar in the China group (n=30, 66 years and 27.0 kg/m²) as the US group (n=30, 65 years and 29.6 kg/m²). Before surgery, the China group walked 263 (95%CI [-309,-219]) less meters and had 10.2 (95%CI [-11.8, -8.5]) fewer chairs stands than the US group. At six months when compared to the US group, the China group walked 38 more meters, but this difference did not reach statistical significance (95%CI [-1.6, 77.4]), and had 3.1 (95%CI [-4.4, -1.7]) fewer chair stands. The China group had greater improvement in the six-minute walk compared with the US group, p< 0.001.ConclusionDespite having worse physical function prior to TKR, the China group had greater gains in walking endurance and similar gains in repeated chair stands compared with the US group after surgery.



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Work productivity loss after mild traumatic brain injury

Publication date: Available online 29 July 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Noah D. Silverberg, William J. Panenka, Grant L. Iverson
ObjectiveTo examine the completeness of return to work (RTW) and the degree of productivity loss in individuals who do achieve a complete RTW after mild traumatic brain injury (MTBI).DesignMulti-site prospective cohort.SettingOutpatient concussion clinics.ParticipantsSeventy-nine patients (M=41.5 years old, 55.7% female) who sustained an MTBI and were employed at the time of the injury. Participants were enrolled at their first clinic visit and assessed by telephone 6-8 months post-injury.InterventionNone.MeasuresStructured interview of RTW status, British Columbia Postconcussion Symptom Inventory (BC-PSI), Lam Employment Absence and Productivity Scale (LEAPS), MINI Neuropsychiatric Interview, brief pain questionnaire. Participants who endorsed symptoms from three or more categories with at least moderate severity on the BC-PSI were considered to meet International Classification of Diseases-10 criteria for postconcussional syndrome. RTW status was classified as complete if participants returned to their pre-injury job with the same hours and responsibilities or to a new job that was at least as demanding.ResultsOf the 46 (58.2%) patients who achieved a RTW, 33 (71.7%) had a complete RTW. Participants with complete RTW had high rates of postconcussional syndrome (44.5%) and comorbid depression (18.2%), anxiety disorder (24.2%), and bodily pain (30.3%). They also reported productivity loss on the LEAPS, such as "getting less work done" (60.6%) and "making more mistakes" (42.4%). In a regression model, productivity loss was predicted by the presence of postconcussional syndrome and a comorbid psychiatric condition, but not bodily pain.ConclusionEven in patients who RTW after MTBI, detailed assessment revealed underemployment and productivity loss associated with residual symptoms and psychiatric complications.



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Kinesiophobia and its Association with Health Related Quality of Life Across Injury Locations

Publication date: Available online 29 July 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Penny Goldberg, Giorgio Zeppieri, Joel Bialosky, Charlotte Bocchino, Jon van den Boogaard, Susan Tillman, Terese L. Chmielewski
ObjectiveTo compare baseline kinesiophobia levels and their association with health-related quality of life across injury locations.DesignRetrospective cross-sectional study.SettingSingle, large outpatient physical therapy clinic within an academic medical center.Participants1233 patients who underwent an initial evaluation for a diagnosis related to musculoskeletal pain and completed the TSK-11 and SF-8™ questionnaires within 7 days of their first visit were eligible for inclusion. 380 patients were excluded for missing data or because they were under 18 years of age.InterventionsNot applicable.Main Outcome MeasuresComparison of baseline kinesiophobia levels and their association with health-related quality of life across injury locations in an outpatient physical therapy setting.ResultsA total of 853 patients (range: 18-94 years, mean age = 43.55 years) were included. Separate ANOVA models compared TSK-11 scores based on involved body region and Pearson correlation coefficients were used to examine the association between TSK-11 scores the SF-8™ sub-scales at each body region. TSK-11 scores did not differ by body region (range = 23.9 to 26.1). Weak to moderate negative correlations existed between kinesiophobia and the SF-8™ subscales.ConclusionKinesiophobia levels appear elevated and negatively associated with health-related quality of life at initial physical therapy evaluation regardless of injury location. These findings suggest physical therapists in outpatient orthopaedic settings should implement routine kinesiophobia assessment and provide stratified care based on kinesiophobia levels across musculoskeletal conditions.



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Transcriptomic analysis reveals the molecular mechanism of apoptosis induced by Muscovy duck reovirus

Abstract

This study was to investigate the molecular mechanism underlying the apoptosis induced by Muscovy duck reovirus (MDRV) through a transcriptomic analysis. Muscovy ducklings were infected with MDRV strain YB and the apoptotic cells in their livers were examined with terminal-deoxynucleotidyl-transferase-mediated nick end labeling and flow cytometry. Genes differentially expressed in the livers of the MDRV-infected ducklings were screened by comparing them with those of uninfected ducklings and were analyzed with a transcriptomic method to illuminate the mechanism of MDRV infection. The results showed that MDRV infection strongly induced apoptotic cells in liver. Significant pathway enrichment determined by a Kyoto Encyclopedia of Genes and Genomes analysis showed that MDRV activated the death receptor family signaling pathway (Fas, TNFR1), the interleukin receptor signaling pathway (IL1, IL3), the phosphatidylinositol 3-kinase signaling pathway, NF-ҝB signaling pathway and calcium ions signaling pathway to induce apoptosis. This was verified by SYBR-Green-based fluorescence quantitative PCR. In conclusion, MDRV induce apoptosis by activation multi signaling pathways.

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Network meta-analysis

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Auditory Dysfunction in Patients with Huntington’s Disease

Publication date: Available online 29 July 2017
Source:Clinical Neurophysiology
Author(s): Oliver Profant, Jan Roth, Zbyněk Bureš, Zuzana Balogová, Irena Lišková, Jan Betka, Josef Syka
ObjectiveHuntingtońs disease (HD) is an autosomal, dominantly inherited, neurodegenerative disease. The main clinical features are motor impairment, progressive cognitive deterioration and behavioral changes. The aim of our study was to find out whether patients with HD suffer from disorders of the auditory system.MethodsA group of 17 genetically verified patients (11 males, 6 females) with various stages of HD (examined by UHDRS – motor part and total functional capacity, MMSE for cognitive functions) underwent an audiological examination (high frequency pure tone audiometry, otoacoustic emissions, speech audiometry, speech audiometry in babble noise, auditory brainstem responses). Additionally, 5 patients underwent a more extensive audiological examination, focused on central auditory processing. The results were compared with a group of age-matched healthy volunteers.ResultsOur results show that HD patients have physiologic hearing thresholds, otoacoustic emissions and auditory brainstem responses; however, they display a significant decrease in speech understanding, especially under demanding conditions (speech in noise) compared to age-matched controls. Additional auditory tests also show deficits in sound source localization, based on temporal and intensity cues. We also observed a statistically significant correlation between the perception of speech in noise, and motoric and cognitive functions. However, a correlation between genetic predisposition (number of triplets) and function of inner ear was not found.ConclusionsWe conclude that HD negatively influences the function of the central part of the auditory system at cortical and subcortical levels, altering predominantly speech processing and sound source lateralization.SignificanceWe have thoroughly characterized auditory pathology in patients with HD that suggests involvement of central auditory and cognitive areas.



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Comparative transcriptome analysis of tube feet of different colors in the sea urchin Strongylocentrotus intermedius

Abstract

The Strongylocentrotus intermedius is an important commercially cultivated marine animal in China. In recent years, some individuals with diaphanous tube feet, rather than the normal red tube feet, have been observed among animals under cultivation; the basis of this phenotypic change is uncertain. In order to better understand the differences between two color tube feet of S. intermedius at the molecular level, we constructed four cDNA libraries from tube feet and coelomocytes of S. intermedius individuals with red or diaphanous tube feet. A total of 216,729,214 clean reads were assembled into 87,510 transcripts with an average size of 1677 bp. A BlastX search showed that 72,690 transcripts had significant matches in at least one target database. Expression profile analysis was performed on the four libraries and many differentially expressed genes were identified. Using gene enrichment analysis, several biological processes related to immune responses as well as immune-related candidate genes were identified. A total of 1694 genes were immune-related, and the genes expression of red tube feet were higher than that of diaphanous tube feet. In addition, 50,427 simple sequence repeats were obtained from the S. intermedius transcriptomes, while 32,650 and 42,264 single nucleotide polymorphisms were found in S. intermedius with diaphanous tube feet and red tube feet, respectively. These results provide valuable information for the future studies involving marker-assisted breeding and the studies of population genetics and genomics on S. intermedius.

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Fitness, Fatness, Physical Activity, and Autonomic Function in Midlife.

Purpose: Although low cardiorespiratory fitness (CRF), physical inactivity and obesity are associated with impaired autonomic function, they are also extensively interrelated. The present study aimed to assess the extent to which they contribute to autonomic function independently of each other. Methods: At age of 46 yrs, 1383 men and 1761 women without cardiorespiratory diseases and diabetes underwent assessments of vagally mediated heart rate (HR) variability (root mean square of successive differences in R-R interval, rMMSD), peak HR during a submaximal step test (CRF) and 60-s HR recovery (HRR). Moderate-to-vigorous physical activity (MVPA, >=3.5 METs, 2 weeks) was measured by wrist-worn accelerometer and body fat percentage (Fat%) by bioimpedance. Results: In men, CRF and Fat% were significantly associated with higher rMSSD (standardized [beta]=0.31 and -0.16) and HRR ([beta]=0.19 and -0.18), whereas higher MVPA was linked with higher HRR ([beta]=0.13) when including CRF, MVPA and Fat% in the initial regression. After adjustments for other lifestyle and cardiometabolic factors, CRF remained significantly associated with rMMSD ([beta]=0.24) and HRR ([beta]=0.14), as did MVPA with HRR ([beta]=0.11). In women, CRF was associated with rMSSD ([beta]=0.23) and HRR ([beta]=0.15), and MVPA ([beta]=0.17) and Fat% ([beta]=-0.07) with HRR, when CRF, MVPA and Fat% were adjusted for each other. After further adjustments, CRF remained a significant determinant of rMSSD ([beta]=0.20) and HRR ([beta]=0.13), as did MVPA with HRR ([beta]=0.15). The final models explained 23% and 21% of variation in rMSSD and HRR in men, and 10% and 12% in women, respectively. Conclusion: Cardiorespiratory fitness was a more important determinant of cardiac autonomic function than MVPA and body fat. Furthermore, MVPA, but not body fat was independently associated with cardiac autonomic function in both men and women. (C) 2017 American College of Sports Medicine

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Comparison of Polar M600 Optical Heart Rate and ECG Heart Rate during Exercise.

Purpose: The purpose of this study was to evaluate the accuracy of the Polar M600 optical heart rate (OHR) sensor compared to ECG heart rate (HR) measurement during various physical activities. Methods: Thirty-six subjects participated in a continuous 76 min testing session, which included rest, cycling warm up, cycling intervals, circuit weight training, treadmill intervals, and recovery. HR was measured using a 3-lead ECG configuration and a Polar M600 Sport Watch on the left wrist. Statistical analyses included OHR % accuracy, mean difference, mean absolute error, Bland-Altman plots, and a repeated measures Generalized Estimating Equation design. OHR % accuracy was calculated as the percentage of occurrences where OHR measurement was within and including +/- 5 bpm from the ECG HR value. Results: Of the four exercise phases performed, the highest OHR % accuracy was found during cycle intervals (91.8%), and the lowest OHR % accuracy occurred during circuit weight training (34.5%). OHR % accuracy improved steadily within exercise transitions during cycle intervals to a maximum of 98.5%, and during treadmill intervals to a maximum of 89.0%. Lags in HR calculated by the Polar M600 OHR sensor existed in comparison to ECG HR, when exercise intensity changed until steady state occurred. There was tendency for OHR underestimation during intensity increases and overestimation during intensity decreases. No statistically significant interaction effect with device was found in this sample based on sex, BMI, V[spacing dot above]O2max, skin type, or wrist size. Conclusions: The Polar M600 was accurate during periods of steady state cycling, walking, jogging, and running, but less accurate during some exercise intensity changes, which may be attributed to factors related to total peripheral resistance changes and pulse pressure. (C) 2017 American College of Sports Medicine

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Beyond the Bottom of the Foot: Topographic Organization of the Foot Dorsum in Walking.

Introduction: Sensory feedback from the foot dorsum during walking has only been studied globally by whole nerve stimulation. Stimulating the main nerve innervating the dorsal surface produces a functional stumble corrective response that is phase-dependently modulated. We speculated that effects evoked by activation of discrete skin regions on the foot dorsum would be topographically organized, as with the foot sole. Methods: Non-noxious electrical stimulation was delivered to five discrete locations on the dorsal surface of the foot during treadmill walking. Muscle activity from muscles acting at the ankle, knee, hip and shoulder were recorded along with ankle, knee and hip kinematics and kinetic information from forces under the foot. All data were sorted based on stimulus occurrence in twelve step-cycle phases, before being averaged together within a phase for subsequent analysis. Results: Results reveal dynamic changes in reflex amplitudes and kinematics that are site-specific and phase-dependent. Most responses from discrete sites on the foot dorsum were seen in the swing phase suggesting function to conform foot trajectory to maintain stability of the moving limb. In general, responses from lateral stimulation differed from medial stimulation and effects were largest from stimulation at the distal end of the foot at the metatarsals. That is, in anatomical locations where actual impact with an object in the environment is most likely during swing. Responses to stimulation extend to include muscles at the hip and shoulder. Conclusions: We reveal afferent feedback from specific cutaneous locations on the foot dorsum influences stance and swing phase corrective responses. This emphasizes the critical importance of feedback from the entire foot surface in locomotor control and has application for rehabilitation following neurological injury and in footwear development. (C) 2017 American College of Sports Medicine

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Impact of Exercise on Cardiometabolic Component Risks in Spinal Cord-injured Humans.

Purpose: Spinal cord injury (SCI) creates a complex pathology, characterised by low levels of habitual physical activity and an increased risk of cardiometabolic disease. This study aimed to assess the impact of a moderate-intensity upper-body exercise training intervention on, biomarkers of cardiometabolic component risks, adipose tissue metabolism and cardiorespiratory fitness in persons with SCI. Methods: Twenty-one inactive men and women with chronic (>1 year) SCI (all paraplegic injuries), aged 47 +/- 8 years (mean +/- S.D), were randomly allocated to either a 6-week prescribed home-based exercise intervention (INT; n = 13) or control group (CON; n = 8). Participants assigned to the exercise group completed 4 x 45-min moderate-intensity (60-65% peak oxygen uptake [V[Combining Dot Above]O2 peak]) arm-crank exercise sessions per week. At baseline and follow-up, fasted and post-load blood samples (collected during oral glucose tolerance tests) were obtained to measure metabolic regulation and biomarkers of cardiovascular disease. Abdominal subcutaneous adipose tissue biopsies were also obtained and cardiorespiratory fitness assessed. Results: Compared to CON, INT significantly decreased (P = 0.04) serum fasting insulin ([DELTA], CON 3.1 +/- 10.7 pmol[middle dot]l-1; INT, -12.7 +/- 18.7) and homeostasis model assessment of insulin resistance (HOMA2-IR [DELTA], CON 0.06 +/- 0.20; INT, -0.23 +/- 0.36). The exercise group also increased V[Combining Dot Above]O2 peak ([DELTA], 3.4 ml[middle dot]kg-1[middle dot]min-1, P

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Patient Satisfaction and Quality of Life in People with Schizophrenia-Spectrum Disorders in a Rural Area

Abstract

People suffering from schizophrenia-spectrum disorders often endorse a reduced quality of life (QoL) as compared to the general population. There appears to be a lack of studies for rural catchment areas for this patient population. We conducted a cross-sectional study with 94 people with schizophrenia-spectrum disorders in a mainly rural alpine area. We used multilevel models controlled for covariates to analyze the data. Total service satisfaction was associated with psychological aspects of subjective QoL and physical well-being in our model. Variables characterizing autonomy and empowerment of the person seem crucial concerning the QoL in this population.

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Distal esophageal spasm with multiple esophageal diverticula successfully treated by peroral endoscopic myotomy

Abstract

Distal esophageal spasm (DES) is a primary esophageal motility disorder. We encountered a rare case of DES accompanied by multiple esophageal diverticula. A 72-year-old woman complained of prolonged dysphagia and chest pain. A barium esophagogram showed multiple esophageal diverticula and significant contraction of the lower esophagus just above the cardia. Esophagogastroduodenoscopy revealed a corkscrew-like appearance, with spiral contractions and diverticula. High-resolution manometry revealed that the integrated relaxation pressure was normal; premature contractions were observed in ≥20% of the swallowing wave; the distal contractile integral was normal. She was diagnosed with DES according to the Chicago classification v 3.0. As smooth muscle relaxants were not effective, we decided to perform peroral endoscopic myotomy (POEM) to eliminate persistent esophageal contraction. After POEM treatment, her symptoms were markedly improved, and the Eckardt score significantly decreased from 11 points to 1. An esophagogram after POEM showed that barium flowed promptly into the stomach. The multiple esophageal diverticula were considered to be the result of false pulsion diverticulosis caused by excessive internal esophageal pressure, and this represented the most severe form of DES. POEM could be a new curative strategy for the most severe DES cases with multiple diverticula.

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Cystic Fibrosis Related Liver Disease: Research Challenges and Future Perspectives.

Objectives: Hepatobiliary complications are a leading cause of morbidity and mortality in cystic fibrosis (CF) patients. However, knowledge of the underlying pathological aspects and optimal clinical management is sorely lacking. Methods: We provide a summary of the lectures given by international speakers at the ESPGHAN monothematic conference on CF-related liver disease (CFLD) held in Paris in January 2016, to discuss the status of our current knowledge of liver disease in CF patients, to define the critical areas that need to be addressed and to resolve actions to elucidate relevant mechanisms of disease to optimise future therapeutic options. Conclusions: The need for a universal consensus on the definition of CFLD to clarify disease stage and to identify relevant biomarkers to assess disease severity was highlighted. A deeper understanding of the pathophysiology and prognostic factors for the long-term evolution of CFLD is fundamental to move forward, and has a strong bearing on identifying potential treatments. Novel experimental models and new treatment options under investigation are discussed and offer hope for the near future of CFLD. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Assessing the Transition Intervention Needs of Young Adults With Inflammatory Bowel Diseases.

Objectives: The transition of inflammatory bowel disease (IBD) patients from pediatric to adult care can be challenging. Developing an effective transition intervention requires assessing the current transition experience for potential improvements, determining preferred content and format, and assessing patients' transition skills. Methods: This mixed-methods study of 20 transitioned IBD patients (ages 17-20 years) utilized semi-structured interviews and validated assessments of self-management/self-advocacy and IBD knowledge. Interviews were analyzed thematically. Assessment scores were compared to published reference data by estimating proportion or mean differences and 95% confidence intervals. Results: The concept of a transition intervention was well-received by participants. Preferred content centered on medications, disease and what to expect. Preferred ways to acquire knowledge were one-on-one instruction, handouts and websites. Identified themes were: "individualized and multi-faceted," "teach about transition" and "support the shift in responsibility." Among participants, 95% did not achieve 90% mastery of transition skills (0.6% higher [95% CI: -10.7%, 9.5%] than the reference estimate) and the mean knowledge score was 15.15 (3.86 [95% CI: 2.27, 5.45] points higher than the reference estimate). Conclusions: We have identified preferred intervention formats and content as well as skill areas to target for improvement. As a result of this work, we will design a website intervention pertaining to identified themes. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Caesarean Section on The Risk of Celiac Disease in the Offspring: The Teddy Study.

Objective: Caesarean section (C-section) is associated with various immune-mediated diseases in the offspring. We investigated the relationship between mode of delivery and celiac disease (CD) and CD autoimmunity (CDA) in a multinational birth cohort. Methods: From 2004 to 2010 infants from the general population who tested positive for HLA DR3-DQ2 or DR4-DQ8 were enrolled in The Environmental Determinants for Diabetes in the Young (TEDDY) study. Children were annually screened for transglutaminase autoantibodies, if positive re-tested after 3-6 months and those persistently positive defined as CDA. Associations of C-section with maternal (age, education level, parity, pre-pregnancy weight, diabetes, smoking, weight gain during pregnancy) and child characteristics (gestational age, birth weight) were examined by Fisher's exact test or Wilcoxon rank-sum test. Hazard ratios (HRs) for CDA or CD were calculated by Cox proportional hazard regression models. Results: Of 6,087 analyzed singletons 1600 (26%) were born by C-section (Germany 38%, US 37%, Finland 18%, Sweden 16%), the remaining vaginally without instrumental support; 979 (16%) had developed CDA and 343 (6%) CD. C-section was associated with lower risk for CDA (HR = 0.85, [95% CI 0.73, 0.99], p = 0.032) and CD (HR = 0.75, [95% CI 0.58, 0.98], p = 0.034). After adjusting for country, sex, HLA-genotype, CD in family, maternal education and breastfeeding duration, significance was lost for CDA (HR = 0.91, [95% CI 0.78, 1.06], p = 0.20) and CD (HR = 0.85, [95% CI 0.65, 1.11], p = 0.24). Pre-surgical ruptured membranes had no influence on CDA or CD development. Conclusion: C-section is not associated with increased risk for CDA or CD in the offspring. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Intervention for Feeding Difficulties in Children With a Complex Medical History: A Randomized Clinical Trial.

Objective: This study aimed to compare outcomes of different multidisciplinary feeding therapy approaches in children with feeding difficulties. Methods: Children 2-6 years with feeding difficulties and a medically complex history (MC) were recruited. Children with feeding difficulties and a non-medically complex history (NMC) were included as a comparison group. Participants attended a clinical assessment, and eligible participants were randomized to receive targeted feeding intervention incorporating either operant conditioning or systematic desensitization. Parents could elect to receive intervention in an intensive (10 sessions in a week) or weekly (10 sessions over 10 weeks) format. Both groups received immersive parent training. A review was completed three months post-intervention. Results: In total, 98 participants were eligible to participate (MC n = 43; NMC n = 55). Data from 20 children from the MC group (47%) and 41 children from the NMC group (75%) were included in the final analysis. Clinically significant improvements were observed following both arms of therapy, consistent with previous research. Parents of children in the MC arm were significantly more likely to elect for intensive intervention than weekly (MC = 12/20, 60%; 12/41, 29%; p = 0.02). Conclusions: : Both therapy protocols were considered clinically effective. The difference in attrition rates between the etiological groups suggests primary differences in how service delivery should be managed. Progress for the medically complex child may be slower while medical issues are stabilized, or while the focus for parents shifts to other developmental areas. In planning services for a medically complex group, therefore, it is essential that consideration be given to medical and family needs. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Mass Screening for Celiac Disease Among School-aged Children: Toward Exploring Celiac Iceberg in Saudi Arabia.

Objectives: We conducted this mass screening study to determine the prevalence of celiac disease (CD) and characterize the celiac iceberg among Saudi pediatric population in Riyadh, the capital city of Saudi Arabia. Methods: Over the study period (January 2014 to June 2016), we have conducted a cross-sectional, mass screening, IgA-tissue transglutaminase (TTG-IgA)-based study on 7930 Saudi students from primary and intermediate schools in Riyadh. Students with positive TTG-IgA (> 20 U/L) were called in the hospital to undergo a repeat of TTG-IgA; in those with borderline positive TTG-IgA (20-60 U/L) IgA-endomyseal antibody (EMA-IgA) test was performed. Children with TTG-IgA > 60 U/L and children with borderline positive TTG-IgA and positive EMA-IgA were advised to undergo upper endoscopy and intestinal biopsies. Results: We identified 221 students with positive TTG-IgA (2.8%). Celiac disease was diagnosed in 119 cases (1.5%, 1:67 Saudi children) [Mean age 11.5 +/- 2.62 years; females 81 (68%)]. Another 51 children had persistently borderline positive TTG-IgA but negative EMA (0.64%) and the remaining 51 had transiently positive TTG-IgA. We have identified three clinical patterns in the screening-identified celiac cases: 1) a silent form (37%), 2) a mild symptomatic form characterized by gastrointestinal symptoms in presence of normal growth or overweight/obesity (48%), and 3) gastrointestinal symptoms associated with impaired growth in 15%. Conclusion: Our study provided evidence of a high prevalence of CD among Saudi children (1.5%); a rate that is at least twice the average prevalence rate in Europe and North America. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Real-Life Anti-Tumour Necrosis Factor Experience in > 500 Paediatric United Kingdom Inflammatory Bowel Disease Patients.

Objectives: To measure the effectiveness, safety and use of anti-Tumour necrosis Factor (TNF) therapy in paediatric inflammatory bowel disease (PIBD) in the United Kingdom (UK). Methods: Prospective UK audit of patients newly starting anti-TNF therapy. Disease severity was assessed using Physician Global Assessment (PGA) +/or the Paediatric Crohn's Disease Activity Index (PCDAI). Results: 37 centres participated (23 of 25 specialist PIBD sites). 524 patients were included; 429 Crohn's disease (CD), 76 ulcerative colitis (UC), 19 IBD unclassified (IBDU). 87% (488/562) anti-TNF was infliximab; commonest indication was active luminal CD 77% (330/429) or chronic refractory UC/IBDU 56% (53/95); 79% (445/562) had concomitant co-immunosuppression. In CD (267/429 male), median time from diagnosis to treatment was 1.42 years (IQR 0.63-2.97). Disease (at initiation) was moderate or severe in 91% (156/171) by PGA compared to 41% (88/217) by PCDAI; Kappa ([KAPPA]) 0.28 = only 'fair agreement' (p

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Early Onset of Wilson Disease - Diagnostic Challenges.

Objectives: To analyze the clinical presentations, diagnosis and treatment of patients aged 100 [mu]g/day. Liver copper quantification was >250 [mu]g/g dry weight in 16 patients. The most common mutation was p.H1069Q, with compound heterozygosity in five patients and homozygosity in nine. Sixteen patients were treated with zinc salts and five with D-penicillamine. Both treatments were effective, with no serious side effects observed after 3-24 months. Conclusions: WD can present as early as 2 years of age. Because biochemical tests may be less sensitive in very young children, diagnoses may require a combination of tests. If molecular tests are inconclusive, liver copper content should be measured. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Serum n-6 and n-9 Fatty Acids Correlate with Serum IGF-1 and Growth Up to Four Months of Age in Healthy Infants.

Objectives: To study the relationship between insulin-like growth factor 1 (IGF-1), serum phospholipid fatty acids and growth in healthy full-term newborns during infancy. Methods: Prospective observational study of a population-based Swedish cohort comprising 126 healthy, term infants investigating cord blood and serum at two days and four months of age for IGF-1 and phospholipid fatty acid profile and breast milk for fatty acids at two days and four months, compared to anthropometric measurements (SDS). Results: At all time-points arachidonic acid (AA) was negatively associated with IGF-1. IGF-1 had positive associations with Linoleic acid (LA) at two days and four months and Mead acid (MA) showed positive associations in cord blood. Multiple regression analyses adjusted for maternal factors (BMI, weight gain, smoking, education), gender, birth weight and feeding modality confirmed a negative association for the ratio AA/LA to IGF-1. MA in cord blood correlated to birth size. Changes in the ratios of n-6/n-3 and AA/docosahexaenoic acid from day two to four months together with infants' weight and feeding modality determined 55% of the variability of delta-IGF-1. Breastfed infants at four months had lower IGF-1 correlating with lower LA and higher AA concentrations, which in girls correlated with lower weight gain from birth to four months of age. Conclusions: Our data showed interaction of n-6 fatty acids with IGF-1 during the first four months of life, and an association between MA and birth size when adjusted for confounding factors. Further follow-up might indicate if these correlations are associated with later body composition. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Radiation Exposure and Attributable Cancer Risk in Patients with Esophageal Atresia.

Objectives: Cases of esophageal carcinoma have been documented in survivors of esophageal atresia (EA). Children with EA undergo considerable amounts of diagnostic imaging and consequent radiation exposure potentially increasing their lifetime cancer mortality risk. This study evaluates the radiological procedures performed on patients with EA and estimates their cumulative radiation exposure and attributable lifetime cancer mortality risk. Methods: Medical records of patients with EA managed at a tertiary care center were reviewed for demographics, EA subtype and number and type of radiological investigations. Existing normative data was used to estimate the cumulative radiation exposure and lifetime cancer risk per patient. Results: This study included 53 patients with a mean follow-up of 5.7 years. The overall median and maximum estimated effective radiation dose in the neonatal period was 5,521.4 [mu]Sv/patient and 66,638.6 [mu]Sv/patient, respectively. This correlates to a median and maximum estimated cumulative lifetime cancer mortality risk of 1: 1,530 and 1: 130, respectively. Hence, radiation exposure in the neonatal period increased the cumulative cancer mortality risk a median of 130-fold and a maximum of 1,575-fold in EA survivors. Conclusion: Children with EA are exposed to significant amounts of radiation and an increased estimated cumulative cancer mortality risk. Efforts should be made to eliminate superfluous imaging. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Pediatric Gastroesophageal Reflux Disease: Systematic Review on Prognosis and Prognostic Factors.

In this systematic review, we summarize the evidence on prognosis and prognostic factors of pediatric GERD. A structured search of Embase and MEDLINE/PubMed (inception to April 2016) yielded 5365 references; four publications met our inclusion criteria (risk of bias moderate-high). Definitions and outcome measures varied widely between studies. The percentage of children with a diagnosis of GERD with esophagitis that had persisting symptoms and/or were on anti-reflux medication at follow-up (12 months to >5 years) ranged from 23% (weekly symptoms) to 68% (anti-reflux medication), depending on definition used. In children with a diagnosis of GERD without esophagitis, 1.4% developed esophagitis at follow-up (>5 years); none developed Barrett's esophagus. In conclusion, prognostic studies on pediatric GERD are of limited quality and show large methodological heterogeneity. Based on these studies, we are unable to identify those children at risk for unfavorable outcome with regards to GERD symptoms or endoscopic complications. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Bioactive Whey Protein Concentrate and Lactose Stimulate Gut Function in Formula-Fed Preterm Pigs.

Objective: Formula feeding is associated with compromised intestinal health in preterm neonates compared with maternal milk, but the mechanisms behind this are unclear. We hypothesized that the use of maltodextrin and whey protein concentrates (WPCs) with reduced bioactivity due to thermal-processing are important factors. Method: Ninety-two caesarean-delivered preterm pigs were fed increasing doses of formulas for 5 days (24-120 mL/kg/d). In Experiment 1, four groups of pigs (n = 15-16) were fed lactose- or maltodextrin-dominant formulas (lactose/maltodextrin ratios 3:1 or 1:3, respectively), containing WPC with either high or low levels of IgG (WPC1 or WPC2, respectively). In Experiment 2, two groups of pigs (n = 15-16) were fed lactose-dominant formulas with either a bioactive WPC (BioWPC, produced by reduced thermal-processing) or a conventional WPC (ConWPC). Results: In Experiment 1, pigs fed formula with WPC1 had higher villi, hexose absorption, and lactase activity in small intestine, relative to WPC2, but predominantly with the lactose-dominant formula (all P

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SLC5A1 Mutations in Saudi Arabian Patients with Congenital Glucose-Galactose Malabsorption.

Congenital glucose-galactose malabsorption (cGGM) is a rare autosomal recessive disorder, caused by mutations in the SLC5A1 gene, encoding the sodium/glucose co-transporter 1 (SGLT1) which may result in severe life-threatening osmotic diarrhea due to the accumulation of unabsorbed sugars in the intestinal lumen. If treated early with elimination of glucose and galactose from the diet, patients usually recover and develop normally. We present clinical and molecular data from 16 unrelated cGGM diagnosed Saudi patients from consanguineous families with majority of them having previous positive family history of cGGM. Sanger sequencing for the full coding regions of SLC5A1 for all patients resulted in the identification of 4 allelic variants in a homozygous state. Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and two have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q). This is the first report delineating the clinical and molecular basis of cGGM in patients from this region. (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Poor Agreement Between Imaging and Histologic and Colonoscopy Findings In Pediatric Patients.

Background: Computed tomography scan (CTs), more recently magnetic resonance imaging (MRI), are often used to assess the gastrointestinal tract in patients complaining of abdominal pain. We aim to determine the strength of agreement among abdominal imaging, endoscopic and histologic findings. Methods: Retrospective chart review of pediatric patients who underwent colonoscopy between January 1, 2012 and December 31, 2014 at Women and Children's Hospital of Buffalo. Patients who had abdominal and pelvic CTs or MRI within 30 days before or after a colonoscopy were included. Results: 102 patients were included; mean age 12.7 +/- 3.8 years, 66% females. A total of 109 imaging studies were performed. Overall 61% of imaging studies were abnormal. The most frequent intestinal radiological findings were colonic wall thickening (CWT) (55%) and colonic wall enhancement (CWH) (24%). Free fluid (20%) and fat stranding (18%) were the most common extra-intestinal findings. Imaging studies agreed with histology in 81% and with colonoscopy in 75% with a moderate strength of agreement (k: 0.59 and 0.466 respectively). CWT agreed with histology in 74% with a moderate strength of agreement ((k: 0.47). Past history of weight loss (OR: 5.35, p = 0.041), chronic diarrhea (OR: 4.22, p = 0.014), a positive lactoferrin (OR: 7.00, p = 0.011) and presence of CWT on imaging study (OR: 5.20, p = 0.001) were predictive of having abnormal histology. Conclusions: The strength of agreement among imaging, endoscopic and histologic findings was suboptimal. Colonoscopy and imaging are both likely to be necessary in patients with suspected IBD. While colonoscopy may be superior in diagnosis of colitis, imaging may provide more information regarding small bowel disease (C) 2017 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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The Relationship Between Child Mortality Rates and Prevalence of Celiac Disease.

Objectives: Some evidence suggests that prevalence of celiac disease in the general population is increasing over time. Since the prognosis of celiac disease was a dismal one before discovering the role of gluten, our aim was to investigate a possible relationship between children under five-mortality rates and prevalence rates of celiac disease. Methods: Thanks to a literature review, we found 27 studies performed in 17 different countries describing the prevalence of celiac disease in schoolchildren; between 1995 and 2011, 4 studies were performed in Italy. A meta-analysis of prevalence rates was performed. Prevalence was compared between specific-country under-five mortality groups, publication year and age. Results: In the last decades, under-five mortality rates have been decreasing all over the world. This reduction is paralleled by an increase of the prevalence of celiac disease. The Spearman correlation coefficient was -63%, 95%CI -82% to -33% (p

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Commentary to Article entitled "Vitamin D deficiency is not associated with growth or the incidence of common morbidities among Tanzanian infants".

No abstract available

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New Celiac Icebergs Are Spotted, Other Are Slowly Emerging.

No abstract available

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Informed Consent and Nitrous Oxide for Obstetric Analgesia.

No abstract available

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In Response.

No abstract available

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Absolute Postoperative B-Type Natriuretic Peptide Concentrations, but Not Their General Trend, Are Associated With 12-Month, All-Cause Mortality After On-Pump Cardiac Surgery.

BACKGROUND: B-type natriuretic peptide (BNP) is a predictor of mortality after on-pump cardiac surgery. However, previous limited and heterogeneous studies have focused on peak concentrations at 3 to 5 days after surgery and may not offer clinicians much help in early decision-making. After confirming the predictive value of first-postoperative-day BNP in a preliminary analysis, we explored the association between isolated second-postoperative-day BNP concentrations, second-day BNP concentrations in conjunction with first-day BNP concentrations, and the change in BNP (ie, [DELTA]BNP) from the first to the second postoperative day and 12-month, all-cause mortality. METHODS: We included consecutive patients undergoing on-pump cardiac surgery in this observational, secondary analysis of prospectively collected data. We analyzed biomarkers on the first and second postoperative day. [DELTA]BNP was defined as BNP on the second postoperative day minus BNP on the first postoperative day. The primary end point was 12-month, all-cause mortality. The secondary end point was a composite of major adverse cardiac events (MACEs) at 12 months and/or all-cause mortality at 12 months. MACE was defined as nonfatal cardiac arrest, myocardial infarction, and congestive heart failure. The association between BNP and outcomes was examined by receiver operating characteristic curves, as well as univariate and multivariable logistic regression, adjusting for the EuroSCORE II, cross-clamp time, and first-postoperative-day troponin T. RESULTS: We included 1199 patients in the preliminary analysis focused on BNP on postoperative day 1. In the analyses examining BNP variables requiring second-postoperative-day BNP measurement (n = 708), we observed 66 (9.3%) deaths, 48 (6.8%) MACE, and 104 (14.7%) deaths and/or MACE. Both first- and second-postoperative-day BNP were significant independent predictors of all-cause, 12-month mortality per 100 ng/L increase (adjusted odds ratio [aOR], 1.040 [95% confidence interval (CI), 1.019-1.065] and 1.064 [95% CI, 1.031-1.105], respectively). When used in conjunction with one another, first-day BNP was not significant (aOR, 1.021 [95% CI, 0.995-1.048]), while second-day BNP remained significant (aOR, 1.046 [95% CI, 1.008-1.091]). The [DELTA]BNP per 100 ng/L increase was not associated with 12-month, all-cause mortality in the univariable (OR, 0.977 [95% CI, 0.951-1.007]) or multivariable analysis (aOR, 0.989 [95% CI, 0.962-1.021]). CONCLUSIONS: Both absolute concentrations of first- and second-postoperative-day BNP are independent predictors of 12-month, all-cause mortality. When modeled together, second-postoperative-day BNP is more predictive of 12-month, all-cause mortality. Although intuitively appealing, the change in BNP from the first to the second postoperative day is a complex variable and should not routinely be used for prognostication. (C) 2017 International Anesthesia Research Society

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Antibiotics and the Anesthesiologist: Is There a "Consensus?".

No abstract available

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Informed Consent and Nitrous Oxide for Labor Analgesia.

No abstract available

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Antifragile Systems and Physician Wellness.

No abstract available

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The WFSA Global Anesthesia Workforce Survey.

BACKGROUND: Safe anesthesia and surgical care are not available when needed for 5 billion of the world's 7 billion people. There are major deficiencies in the specialist surgical workforce in many parts of the world, and specific data on the anesthesia workforce are lacking. METHODS: The World Federation of Societies of Anaesthesiologists conducted a workforce survey during 2015 and 2016. The aim of the survey was to collect detailed information on physician anesthesia provider (PAP) and non-physician anesthesia provider (NPAP) numbers, distribution, and training. Data were categorized according to World Health Organization regional groups and World Bank income groups. RESULTS: We obtained information for 153 of 197 countries, representing 97.5% of the world's population. There were marked differences in the density of PAPs between World Health Organization regions and between World Bank income groups, ranging from 0 to over 20 PAP per 100,000 population. Seventy-seven countries reported a PAP density of

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Comparison Between the Cobra Perilaryngeal Airway and Laryngeal Mask Airways Under General Anesthesia: A Systematic Review and Meta-analysis.

The complication rate and efficacy of the Cobra Perilaryngeal Airway (CobraPLA) and laryngeal mask airways (LMAs(R)) have been evaluated in the published literature, but the conclusions have been inconsistent. The aim of this systematic review and meta-analysis was thus to assess the performance of the CobraPLA and LMAs under general anesthesia. We searched PubMed, Embase, and the Cochrane Library for randomized controlled trials comparing the CobraPLA with LMAs under general anesthesia. The LMAs used for comparison were the classic LMA (CLMA) and the unique LMA (ULMA). The random effect model was used if heterogeneity was observed, otherwise the fixed effect model was used. Seventeen randomized controlled trials were included; number of studies analyzed for each result are different and were up to 10. The current result suggests that no significant difference between the devices in the insertion success rate at the first attempt. The success rate of first insertion of the CobraPLA was not different from the rates for the CLMA and the ULMA (relative risk: 0.95, 95% confidence interval [CI], 0.91-1.00). CobraPLA insertion was not different from CLMA and ULMA insertion. The CobraPLA provided an oropharyngeal leak pressure higher than that provided by the CLMA (weight mean difference: 3.90, 95% CI, [1.59-6.21] cmH2O) and ULMA (weight mean difference: 6.57, 95% CI, [4.30-8.84] cmH2O). We also found a higher likelihood of blood staining in the airway with the CobraPLA than with the CLMA. In our research, the principal finding of our meta-analysis is that the success rate of first insertion of the CobraPLA was not different from the rate for each of the CLMA and the ULMA, which featured a short learning curve implying its ease of insertion. There was also no significant difference in the incidence of the best view (with a score of 4) obtained with the CobraPLA compared with the other 2 devices. The CobraPLA does seem to be superior to the CLMA and ULMA in providing a higher oropharyngeal leak pressure. The data were insufficient to establish differences in airway adverse events between the groups except for blood staining in the devices, although mucosal trauma occurred more frequently with the Cobra PLA device than with the CLMA and the ULMA. (C) 2017 International Anesthesia Research Society

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Assessment of dynamic variables of fluid responsiveness to predict desufflation-induced hypotension during paediatric laparoscopic surgery

Abstract

Background: During laparoscopic surgery in paediatric patients, sudden hypotension may occur following peritoneal desufflation due to hypovolaemia or an acute increase in gastrointestinal venous capacitance by the release of intra-abdominal pressure. This study examined whether dynamic variables of fluid responsiveness during pneumoperitoneum can predict the occurrence of hypotension following desufflation.Methods: A total of 120 paediatric subjects were prospectively enrolled. A predictor was derived from the initial 83 subjects and validated thereafter in 37 high-risk subjects. The pleth variability index, respiratory variation in the pulse oximetry plethysmographic waveform (ΔPOP), systolic pressure variation and pulse pressure variation during pneumoperitoneum were obtained 1 min before desufflation. Predictors of desufflation-induced hypotension were investigated using the multivariable logistic regression analysis. Predictability was assessed using the area under the receiver-operating characteristic curve (AUC).Results: In the derivation cohort, 27% (n=23) of subjects developed hypotension. Only ΔPOP was found to be a predictor, and showed high predictability of desufflation-induced hypotension [AUC 0.87, P<0.0001, 95% confidence interval (CI): 0.78–0.93]. A ΔPOP cut-off point of 38% predicted hypotension with a sensitivity of 83% and a specificity of 90%. In the validation cohort, 43% (n=16) of subjects developed hypotension, and ΔPOP was verified to be highly predictive of the occurrence of hypotension (AUC 0.90, P<0.0001, 95% CI: 0.76–0.98). The sensitivity and specificity of a ΔPOP cut-off point of 38% to predict hypotension was 88% and 90%, respectively.Conclusions: The ΔPOP during pneumoperitoneum is useful in predicting desufflation-induced hypotension during paediatric laparoscopic surgery.Clinical trial registration: NCT02536521.

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