Παρασκευή, 21 Σεπτεμβρίου 2018

Pancreas With Multiple Cysts

imageNo abstract available

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Characteristics of Hepatitis B Virus–associated Hepatocellular Carcinoma in Children: A Multi-center Study

imageIntroduction: Pediatricians and liver specialists in the United States and Canada continue to encounter hepatitis B virus (HBV) infection in high-risk populations, including unvaccinated children, adopted children, and immigrants. Although hepatocellular carcinoma (HCC) is a known complication of HBV, there exists a paucity of data regarding the clinical presentation of HBV-associated HCC in children in these countries. Methods: Investigators at 4 medical centers with large numbers of HBV-positive children queried their pathology and/or oncology databases to identify all cases of HBV-infected children

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Association Between Infliximab Drug and Antibody Levels and Therapy Outcome in Pediatric Inflammatory Bowel Diseases

imageObjectives: While infliximab pharmacokinetics are associated with therapy outcome in adult inflammatory bowel disease (IBD) population, limited data are available in pediatric patients. We aimed to define the relationship between infliximab trough and antibodies' levels (IFX-TL, ATI) and clinical, biomarker remission. Methods: IFX-TL and ATI were routinely obtained between 2011 and 2017. Associations with clinical and inflammatory (C-reactive protein, CRP) end-points were studied throughout the first year of infliximab therapy. Results: A total of 63 patients (50 Crohn disease, 13 ulcerative colitis, median follow-up 16 months, median 8 samples/patient) were included, and 773 sera-samples were analyzed. Sera of patients in clinical remission had higher median IFX-TLs than sera of those with active disease (4 vs 2.25 μg/mL, P  9.2 μg/mL at week 2 predicted clinical remission by week 14 (sensitivity 71.4%, specificity 81.2%, area under curve (AUC) = 0.73, P = 0.02) and IFX-TL > 2.2 μg/mL at week 6 predicted infliximab retention beyond 1 year of treatment (sensitivity 88.9%, specificity 100.0%, AUC = 0.974, P 

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Liver Biopsy Can Be Safely Performed in Pediatric Acute Liver Failure to Aid in Diagnosis and Management

imageObjectives: Liver biopsy can be a valuable tool to help determine the etiology of pediatric acute liver failure (PALF), but is often not performed due to safety concerns. The primary aim was to describe the incidence of major complications after liver biopsy performed in the setting of PALF. Methods: Medical records from 2006 to 2016 were reviewed. Patients age 0 to 17 years, who met criteria for PALF, and had a liver biopsy performed while their international normalized ratio (INR) was ≥1.5 were included. Results: A total of 26 cases of liver biopsy in the setting of PALF were identified. The majority (n = 22, 85%) of patients had primary liver disease. Most biopsies (n = 17, 65%) were performed by the transjugular route, with 5 (19%) performed percutaneously under ultrasound guidance and 4 (15%) during a surgical procedure. Median INR before biopsy was 2.1 (IQR = 1.73–2.9). Blood products were given before or during the procedure in 23 (88%) cases. One patient (3.8%) had a major complication of biopsy-associated bleeding requiring a blood transfusion. An additional 3 patients had a hemoglobin decrease of 2.1 to 2.9 g/dL post-biopsy that was attributed to the procedure but no interventions were necessary. Biopsy results contributed to establishing a diagnosis in 62% (n = 16) of cases, and influenced treatment decisions in 9 of those cases. Conclusions: Liver biopsy is safe in the majority of patients with PALF and associated with infrequent major complications. Clinicians should consider performing liver biopsy in this setting, especially when the transjugular approach is feasible, since findings may guide diagnosis and therapy.

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Absorption and Safety With Sustained Use of RELiZORB Evaluation (ASSURE) Study in Patients With Cystic Fibrosis Receiving Enteral Feeding

imageObjectives: Pancreatic insufficiency (PI) and malabsorption of fats lead to reduced caloric intake, inability to maintain weight, and increased gastrointestinal symptoms. Thus, enteral nutrition (EN) is used in patients with cystic fibrosis (CF) and poor nutritional status. The current study evaluated safety, tolerability, and improvement of fatty acid (FA) status in red blood cell (RBC) membranes, a marker of long-term FA absorption, with an in-line digestive cartridge (RELiZORB) that hydrolyzes fat in enteral formula. Methods: Patients with CF receiving EN participated in a multicenter, 90-day open-label study during which RELiZORB was used with overnight EN. The primary endpoint was change over time in RBC uptake of docosahexaenoic acid (DHA)+ eicosapentaenoic acid (EPA). Gastrointestinal symptoms were collected to evaluate safety and tolerability. Several clinical and anthropometric parameters were also assessed throughout the study. Results: A total of 36 subjects completed the study with a mean age of 13.8 years, body mass index of 17.7 and 6.2 years mean use of overnight EN. Fat absorption significantly improved as shown by increased RBC levels of DHA+EPA, improved ω-6/ω-3 ratio, and increased plasma levels of DHA+EPA. RELiZORB use was not associated with any unanticipated adverse events. Conclusions: RELiZORB use was found to be safe, well tolerated, and resulted in increased levels of FAs in RBCs and plasma. This is the first prospective study to show EN can improve FA abnormalities in CF. Because improvement in omega-3 levels has been shown to help pulmonary and inflammatory status as well as anthropometric parameters in CF, RELiZORB may have important long-term therapeutic benefits in patients with CF.

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Transient Elastography Measurements of Spleen Stiffness as a Predictor of Clinically Significant Varices in Children

imageObjectives: Investigate the use of spleen stiffness measurements (SSMs), measured by transient elastography (TE), for the prediction of clinically significant varices (CSV) in children with portal hypertension. Methods: This observational cohort study included children selected for endoscopy, as per department protocol, between September 2015 and June 2016. Those included underwent single TE FibroScan for liver stiffness measurements and SSM. Clinical and laboratory data were collected and variceal prediction scores were calculated at time of elastography. Results: In total 67 children (32 boys) underwent TE. Fifty-two children (25 boys) had chronic liver disease (CLD), 15 (7 boys) portal vein thrombosis (PVT). In all children SSM was the best predictor of CSV+ve, with an optimal cut-off value of 38.0 kPa (area under the receiver operator curve [AUROC] = 0.92, sensitivity = 89%, specificity = 82%, P 

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Preparation of Powdered Infant Formula: Could Product's Safety Be Improved?

imageThe recent outbreak of Salmonella Agona linked to the consumption of infant formula (powdered formula) has rekindled the attention about the correct procedures for preparation and use of these products. International guidelines have already been published so far, particularly in association with Cronobacter sakazakii in early 2000s. FAO/WHO suggested to reconstitute formula with water at no less than 70°C. We therefore contaminated powdered formula with low levels of Salmonella spp and C sakazakii to evaluate the pathogens inactivation during the formula preparation using water at 70°C. In these conditions we observed a survival of both pathogens, indicating that the suggested recommendations may be not enough to guarantee the safety of this product. Higher temperatures are needed to reduce the biological risk, even if it may be not easily realized in actual domestic conditions. Moreover, the impact on the nutritional value of reconstituted formulas should be evaluated.

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Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients

imageBackground: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal lipid storage disorder that results in an early-onset, severe, and lethal phenotype, known as Wolman disease, or a late-onset, attenuated phenotype, cholesteryl ester storage disease (CESD). The aim of our study was to describe the clinical presentation of CESD, focusing on the first noted abnormalities in patients. A diagnostic algorithm of CESD was also proposed. Methods: This is an observational, 1-center study of 19 Polish patients with late-onset LAL-D. Results: The mean age at which the first symptoms were reported was 4 years and 6 months. A mild hepatomegaly was the most common initial abnormality observed in all (100%) patients. Seven (37%) patients were noted to have mildly to moderately elevated serum transaminases. At the time of first hospitalization all (100%) patients presented with hepatomegaly, 15 (79%) patients presented with elevated serum transaminases and all (100%) patients had dyslipidemia. The mean age at the time of CESD diagnosis was 7 years and 2 months. Diagnoses were based on a deficient LAL activity in leukocytes (in all patients) and the LIPA gene mutations (in 47% of them). All the patients were carriers for the mutation c.894G>A in the LIPA gene. There was approximately a 3-year delay from initial symptoms to final diagnosis. Conclusions: Hepatomegaly constitutes the most common presenting clinical sign of CESD. Hepatomegaly and dyslipidemia defined as elevated serum total and LDL cholesterol, elevated triglycerides and normal to low HDL cholesterol, comprises the most characteristic findings at CESD diagnosis.

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Efficacy of Reslizumab for Eosinophilic Esophagitis

No abstract available

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Spectrum of Pediatric Autoimmune Liver Disease and Validation of Its Diagnostic Scores in Indian Children

imageObjectives: There is limited literature on the spectrum of pediatric autoimmune liver disease (AILD, encompassing both autoimmune hepatitis/AIH and autoimmune sclerosing cholangitis [ASC]) in Asian populations and its diagnostic scores similarly require further validation. This work thus aimed to study the clinical characteristics, and to validate available diagnostic criteria in the local pediatric AILD cohort. Methods: A review of all pediatric AILD cases, presenting over a 6-year (2011–2017) period was done, along with comparison of the available diagnostic scores: original (1999), simplified (2008) score, and new proposed (2017) score. Results: A total of 85 subjects (AIH = 70 and ASC = 15) were diagnosed as having AILD. Majority of the cases in both groups presented with advanced hepatic disease (portal hypertension and/or hepatic decompensation). Overall 38 (44.7%) subjects had extrahepatic autoimmune disorders. Good outcome (survival with native liver with medically controllable disease), was seen in 80% AIH subjects, while poor outcome (death/need for liver transplantation or LT) was seen in 13% subjects, with similar results in the ASC cohort. All the 3 available scores had area under receiver operating characteristic (AUROC) curves exceeding 0.9 suggestive of excellent discrimination of AILD (to non-AILD patients), with no statistical difference between them (P >0.05). Conclusions: In Indian subcontinent, pediatric AILD subjects usually present with advanced hepatic disease, but may have a good outcome if timely therapy can be instituted. Associated autoimmune disorders should be carefully screened. There is no difference in the predictive value of the available diagnostic scores for pediatric AILD.

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Cutting-edge Treatment for Benign Pediatric Esophageal Strictures, a Step Forward, More to Go

No abstract available

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Over the Scope Clips for Treatment of Acute Nonvariceal Gastrointestinal Bleeding in Children Are Safe and Effective

imageObjective: There is little published experience with the use of over-the-scope clips (OTSCs) in pediatric patients. The aim of this study is to present our single-center experience utilizing OTSCs for nonvariceal gastrointestinal (GI) bleeding. Methods: This is a retrospective case series of pediatric patients who underwent endoscopic management of GI bleeding during which OTSCs were used. Results: Eleven cases of OTSC utilization for hemostasis were identified in 10 unique patients between November 2014 and May 2016. The median age at intervention was 14.7 years (range 3.9–16.8 years) and median weight was 39 kg (range 17.4–85.8 kg). Technical success and hemostasis were achieved in all cases and there were no complications. Median follow-up was 32.9 months (range 21.2–39.4 months). All nonanastomotic ulcers (4), polypectomy bleeding (2), and sphincterotomy bleeding (1) had no evidence of recurrent GI bleeding at last follow-up. Two patients with anastomotic ulcerations required additional medical interventions. Conclusions: Our series demonstrates the safety and effectiveness of the OTSCs in the pediatric population for acute GI bleeding throughout the GI tract. In our experience, it is effective for nonanastomotic ulcers, postpolypectomy bleeding, and postsphincterotomy bleeding even when other hemostatic techniques have failed. OTSCs may be less effective in the setting of anastomotic ulcerations, reaffirming the refractory nature of these lesions.

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Use of Infliximab Biosimilar Versus Originator in a Pediatric United Kingdom Inflammatory Bowel Disease Induction Cohort

imageObjectives: The aim of the study was to summarize short-term effectiveness, safety, and cost of using infliximab biosimilar (IFX-B) drugs, (Inflectra [Hospira] and Remsima [NAAP]) compared to originator infliximab (IFX-O) (Remicade [MSD]) in biologic naive pediatric inflammatory bowel disease in the United Kingdom. Methods: Prospective audit of patients starting anti-tumour necrosis factor (TNF) therapy. Disease severity, response to treatment, and remission rate was measured by Pediatric Crohn's Disease Activity Index (PCDAI) and/or Physician Global Assessment. Results: Between March 2015 and February 2016, 278 patients (175 IFX-O, 82 IFX-B, and 21 Adalimumab) were started on anti-TNF therapy. This was compared with collected data on 398 patients started on IFX-O from 2011 to 2015. At initiation, median PCDAI was 36 (20,48) (n = 42) in the IFX-O group and 28 (20,40) (n = 29) in the IFX-B group, (P = 0.08). Immunosuppression rates were similar: 150/175 (86%) for IFX-O and 65/82 (79%) for IFX-B (P > 0.05). Post induction, median PCDAI score was 5 (0,11) (n = 19) and 0 (0,8) (n = 15) in the IFX-O and IFX-B groups, respectively (P = 0.35). There was no difference in response to treatment using Physician Global Assessment 85% (n = 28) in IFX-O group and 86% (n = 19) in IFX-B group (P > 0.05). Adverse events at initiation and post induction were not different between both groups (P > 0.05). Using conservative calculations, £875,000 would have been saved for a 1-year period with universal adoption of biosimilars in patients who were instead treated with IFX-O. Conclusions: IFX-B is likely as effective as IFX-O in treating IBD in comparable pediatric populations. Sites should adopt infliximab biosimilar for new starts due to cost reduction with no difference in other parameters.

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Endoscopic Electrocautery Incisional Therapy as a Treatment for Refractory Benign Pediatric Esophageal Strictures

imageBackground and Aim: Refractory esophageal strictures are rare conditions in pediatrics, and are often due to anastomotic, congenital, or caustic strictures. Traditional treatment options include serial dilation and surgical stricture resection; endoscopic intralesional steroid injections, mitomycin C, and externally removable stents combined with dilation have had variable success rates. Although not as widely used, endoscopic electrocautery incisional therapy (EIT) has been reported as an alternative treatment for refractory strictures in a small number of adult series. The aim of the study was to evaluate the safety and efficacy of EIT in a pediatric population with refractory esophageal strictures. Methods: A retrospective chart review was conducted on all patients who underwent EIT for esophageal strictures (May 2011–September 2017) at our tertiary-care referral center. A total of 57 patients underwent EIT. Procedural success was defined as no stricture resection, appropriate diameter for age, and fewer than 7 dilations within 24 months of first EIT session. This corresponded to the 90th percentile of the observed number of dilations in the data. All patients included in the study had at least 2-year follow-up. Results: A total of 133 EIT sessions on 58 distinct anastomotic strictures were performed on 57 patients (24 girls). The youngest patient to have EIT was 3 months old and 4.8 kg. There were 36 strictures that met the criteria for refractory stricture and 22 non-refractory (NR) strictures. The median number of dilations before EIT therapy was 8 (interquartile range [IQR]: 6–10) in the refractory group and 3 (IQR: 0–3) in the NR group. In the refractory group, 61% of the patients met the criteria for treatment success. The median number of dilations within 2 years of EIT in the refractory group was 2 (IQR: 0–4). In the NR group, 100% of the patients met criteria for success. The median number of dilations within 2 years of EIT in the NR was 1 (IQR: 0–2). The overall adverse event rate was 5.3% (7/133), with 3 major (2.3%) and 4 minor events (3%). Conclusions: EIT shows promise as an adjunct treatment option for pediatric refractory esophageal strictures and may be considered before surgical resection even in severe cases. The complication rate, albeit low, is significant, and EIT should only be considered by experienced endoscopists in close consultation with surgery. Further prospective longitudinal studies are needed to validate this treatment.

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Relationship of Initial Pancreatic Enzyme Replacement Therapy Dose With Weight Gain in Infants With Cystic Fibrosis

imageObjective: The aim of the study is to test the hypothesis of a positive relationship between initial dose of pancreatic enzyme replacement therapy (PERT) in infants with cystic fibrosis (CF) and optimal weight gain over the first 2 years of life. Methods: Using the CF Foundation Patient Registry, we identified 502 children born in 2010 and used multivariable models to compare as our primary analysis their 2-year changes in weight-for-age z score (WAZ) and as our secondary analysis weight-for-length percentile (W/L%) by initial PERT dose. We focused on initial dose without reference to subsequent changes in treatment to avoid confounding by indication (severity). Results: Initial PERT dose demonstrated a linear relationship to change in WAZ and W/L% at age 2 years. An initial dose of >1500 lipase units/kg/largest meal resulted in a higher likelihood of attaining WAZ at 2 years at or above the birth WAZ (adjusted odds ratio [aOR] 1.87, 95% confidence interval [CI] 1.22–2.86) and at the top quartile for improvement over 2 years in WAZ (aOR 1.90, 95% CI 1.19–3.05). There was no correlation between initial PERT dose and weight at initial PERT encounter (P = 0.35). Findings were similar for W/L% and when the cohort was restricted to infants who began PERT in the first 3 months of life. Conclusions: Infants receiving higher initial PERT dose demonstrate better weight-related outcomes, as reflected by attainment of favorable changes in WAZ and W/L%, at age 2 years.

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Anti-tumor necrosis factor therapy decreases the risk of initial intestinal surgery after diagnosis of Crohn’s disease of inflammatory type

Abstract

Background

Anti-tumor necrosis factor (TNF) therapy induces and maintains clinical remission in patients with Crohn's disease (CD). However, the effect of anti-TNF therapy on the natural course of CD remains controversial. We aimed to investigate the effect of anti-TNF therapy on the initial intestinal surgery for CD.

Methods

In this single-center retrospective cohort study, clinical course of 199 CD patients of inflammatory type at the initial diagnosis (the period between 1973 and 2014) was precisely reviewed until the end of 2016. Patients were divided into TNF and non-TNF groups based on anti-TNF agent use. After comparisons of clinical characteristics and medical treatments, propensity scores were calculated for covariates. Risk of intestinal surgery was compared by a Cox proportional hazards model using the propensity scores. The effect of immunomodulators on initial intestinal surgery was assessed in the TNF group.

Results

During the study period, 108 patients received anti-TNF therapy. The patients in the TNF group were diagnosed more recently, and more frequently had isolated colonic involvement, and perianal disease. Immunomodulators were more frequently used in the TNF group. Cumulative probability of initial intestinal surgery was significantly lower in the TNF group (P < 0.0001). The hazard ratio in the TNF group was 0.32 (95% CI 0.13–0.74). Immunomodulators did not decrease the risk of initial intestinal surgery.

Conclusions

Anti-TNF therapy can decrease the risk of intestinal surgery among patients with inflammatory-type CD at the initial diagnosis. Further studies should be necessary to determine the additive effect of immunomodulators on the risk of intestinal surgery.



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The Effect of Biologics on Post-Operative Complications in Children with Inflammatory Bowel Disease and Bowel Resection

Objectives: There has been limited investigation of pediatric patients with inflammatory bowel disease (IBD) who have been treated with biologic agents and undergo operative management. Post-operative complications in the adult setting have been mixed and in the pediatric population the data has been limited. This study compares children with IBD treated with biologic agents to patients treated with non-biologic therapy prior to bowel resection. Methods: This is a single center, retrospective chart review study of 62 children with IBD who underwent bowel resection between 2001 and 2017. Analysis included patient demographics, medications used prior to surgery, incidence of postoperative complications, indication for surgery, type of operation, and additional surgeries required. Post-operative complications were defined as superficial skin infection, leak at anastomotic site, intra-abdominal abscess, wound dehiscence, etc. Complications were compared based on medical therapy. Results: Of the 62 children reviewed, 21 carried the diagnosis of ulcerative colitis (UC), 40 had Crohn's disease (CD), and 1 had IBD-unspecified. Thirty-seven of the patients were treated with infliximab, adalimumab, or vedolizumab prior to their bowel resection. There were four complications documented within 30 days of the operation, with an overall complication rate of 6.45 percent. There were two complications in each of the cohorts, including intra-abdominal abscess (2), abdominal wall abscess (1), and pouchitis (1). Conclusion: The number of complications was the same between those who did and did not receive a preoperative biologic agent. This study suggests that biologics may be safe to use in patients undergoing bowel resection. Address correspondence and reprint requests to Mohammad El-Baba, MD. Children's Hospital of Michigan; Division of Pediatric Gastroenterology; 3901 Beaubien Blvd, Detroit, MI 48201 (e-mail: melbaba@dmc.org) Received 13 June, 2018 Accepted 9 September, 2018 Conflicts of Interest and Sources of Funding: There was no funding for this study. JBM: No conflict to disclose. RG: No conflict to disclose. RT: No conflict to disclose. ME: No conflict to disclose. © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Colonic Diverticulitis in an Infant with Hemophagocytic Histiocytosis and Prolonged Glucocorticoid Exposure

No abstract available

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Red Spot Lesions in the Duodenal Bulb are a Highly Specific Endoscopic Sign of Celiac Disease: A Prospective Study

We have recognized Red Spot Lesions (RSLs) in the duodenal bulb in children with celiac disease (CD) and believe they may represent an underappreciated and distinct endoscopic sign of CD. A total of 171 pediatric patients undergoing esophagogastroduodenoscopy with duodenal biopsy for symptoms consistent with CD were prospectively recruited. There were 75 patients who met criteria for CD and the remaining 96 patients served as symptomatic controls. As compared to endoscopic markers frequently mentioned in literature, RSLs had comparable sensitivity, specificity, positive predictive value, and negative predictive value of 31%, 94%, 80%, and 64%, respectively. If RSLs are noted during endoscopy in a patient with gastrointestinal symptoms that might be the result of CD, then sufficient duodenal biopsies to make the diagnosis of CD should be obtained. Address correspondence and reprint requests to Jocelyn A. Silvester, MD PhD, Boston Children's Hospital, Hunnewell Ground, 300 Longwood Avenue, Boston, MA 02115 (e-mail: Jocelyn.Silvester@childrens.harvard.edu) Received 19 December, 2017 Accepted 11 September, 2018 Author Contributions: Conception and design of study: AML, EAF; Data acquisition: EAF, JDG, AK, AML, CEM, DCW; Analysis and interpretation of data: EAF, JDG, AML, PDM, JAS, DCW. Drafting manuscript: EAF, AML, JAS, ZJH. All authors critically reviewed and approved the final version of the manuscript. Source of Funding: This research was supported by Boston Children's Hospital. Jocelyn A. Silvester, MD is supported by NIH/NIDDK T32 DK 07760. All other authors report no financial disclosures. Conflict of Interest: The authors declare no conflicts of interest. © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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The Brussels Infant and Toddler Stool Scale: A Study On Inter-Observer Reliability

Objectives: The Bristol Stool Form Scale (BSFS) is inadequate for non-toilet trained children. The Brussels Infant and Toddler Stool Scale (BITSS) was developed, consisting of 7 photographs of diapers containing stools of infants and toddlers. We aimed to evaluate inter-observer reliability of stool consistency assessment among parents, nurses and medical doctors (MDs) using the BITSS. Methods: In this multicenter cross-sectional study (2016–2017), BITSS photographs were rated according to the BSFS. The reliability of the BITSS was evaluated using the overall proportion of perfect agreement and the linearly weighted κ statistic. Results: A total of 2,462 observers participated: 1,181 parents (48.0%), 624 nurses (25.3%) and 657 MDs (26.7%). The best-performing BITSS photographs corresponded with BSFS type 7 (87.5%) and type 4 (87.6%), followed by the BITSS photographs representing BSFS type 6 (75.0%), BSFS type 5 (68.0%), BSFS type 1 (64.8%), and BSFS type 3 (64.6%). The weakest performing BITSS photograph corresponded with BSFS type 2 (49.7%). The overall weighted κ-value was 0.72 (95% CI 0.59–0.85; good agreement). Based on these results, photographs were categorized per stool group as hard (BSFS type 1–3), formed (BSFS type 4), loose (BSFS types 5&6) or watery (BSFS type 7) stools. According to this new categorization system, correct allocation for each photograph ranged from 83–96% (average: 90%).The overall proportion of correct allocations was 72.8%. Conclusions: BITSS showed good agreement with BSFS. Using the newly categorized BITSS photographs, the BITSS is reliable for the assessment of stools of non-toilet trained children in clinical practice and research. A multi-language translated version of the BITSS can be downloaded at https://ift.tt/2OKXKuz. Address correspondence and reprint requests to Yvan Vandenplas, Prof. Dr., Department of pediatrics, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium (e-mail: yvan.vandenplas@uzbrussel.be); Koen Huysentruyt, Ph.D;, MD, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel (VUB), Brussels, BELGIUM (e-mail: koen.huysentruyt@uzbrussel.be). Received 17 April, 2018 Accepted 25 June, 2018 Koen Huysentruyt and Ilan Koppen: Both authors contributed equally BITSS working group: A. Chogle: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Orange County, Orange County, CA, USA C.A. Velasco-Benítez: Department of Pediatrics, Universidad del Valle, Cali, Colombia C.R. Hernández: Hospital Maria Inmaculada, Florencia, Colombia E. Játiva Mariño: Universidad Central del Ecuador, Quito, Ecuador E. Privat: Department of Pediatrics, Centre Hospitalier Régional Universitaire de Lille, Lille, France J.M. Łukasik: Department of Paediatrics, The Medical University of Warsaw, Warsaw, Poland M. Mejía-Castro: Hospital Infantil de Nicaragua Manuel de Jesus Rivera, Managua, Nicaragua R. Canís: Servicio de Gastroenterología Pediátrica y Endoscopia Digestiva, Hospital del Niño Dr José Renán Esquivel, Ciudad de Panamá, Panamá R. Zablah, Hospital Nacional de Niños Benjamin Bloom, San Salvador El Salvador Trial Registration Number: NCT02913950 Financial disclosure statement: The authors have no financial relationships relevant to this article to disclose. Funding source: No funding was received for this study Conflicts of interest statements: K. Huysentruyt has no conflicts of interests to declare. I.J.N. Koppen has no conflicts of interest to declare. M.A. Benninga is a scientific consultant for Shire, Sucampo, Astrazeneca, Norgine, Zeria, Coloplast, Danone, Friesland Campina, Sensus, United Pharmaceuticals. T. Cattaert has no conflict of interests to declare. J. Cheng has no conflict of interests to declare. C. De Geyter has no conflicts of interest to declare. C. Faure has participated as clinical investigator, and consultant for Sucampo F. Gottrand has no conflicts of interest to declare. B. Hegar has no conflicts of interest to declare. I. Hojsak has participated as a speaker for Medias Adria and GM Pharma. M.S. Miqdady has participated as a clinical investigator, and/or advisory board member, and/or consultant, and/or speaker for Abbott Nutrition, Danone, Nestle, Nutricia, Merck, and Wyeth. S. Osatakul has no conflicts of interest to declare. C. Ribes-Koninckx has participated as a clinical investigator, and/or advisory board member, and/or consultant, and/or speaker for Shire, Nestle Health Science, Nutricia and Mead Johnson Nutrition. S. Salvatore has participated as a consultant and/or speaker for Deca, IMS Health, Danone, Menarini, Nestlé Health Science. M. Saps is a scientific consultant for Sucampo, Forest, Quintiles, Ardelyx, QOL Medical, IMHealth Science, Nutricia. R. Shamir has participated as a consultant and/or speaker for Abbott, Danone, Enzymotec, Nestle Nutrition Institute, NG Solutions and Nutrinia. A. Staiano is clinical investigator for Aboca, was clinical investigator for Nestlé, is advisory board member for Sucampo, and consultant for Aboca and D.M.G. Italy, and speaker for Angelini, Danone, Miltè, Valeas. H. Szajewska has participated as a clinical investigator, and/or advisory board member, and/or consultant, and/or speaker for companies manufacturing infant formulas, i.e., Arla, Danone, HiPP, Nestle, Nestle Nutrition Institute, Nutricia and Mead Johnson. M.C. Vieira has participated as a consultant and/or speaker for Danone, Nestlé Nutrition Institute and Aché Laboratories R. Chanis Aguila has no conflicts of interest to declare. M. Mejía-Castro has no conflicts of interest to declare. A. Chogle has no conflicts of interest to declare. R. Zablah Córdova has no conflicts of interest to declare. C.R. Ramírez Hernández has no conflicts of interest to declare. J.M. Łukasik has no conflicts of interest to declare. E. Játiva Mariño has no conflicts of interest to declare. E. Privat has no conflicts of interest to declare. C.A. Velasco-Benítez has no conflicts of interest to declare. Y. Vandenplas has participated as a clinical investigator, and/or advisory board member, and/or consultant, and/or speaker for Abbott Nutrition, Aspen, Biocodex, Danone, Nestle Health Science, Nestle Nutrition Institute, Nutricia, Mead Johnson Nutrition, Merck, Phacobel, Rontis, United Pharmaceuticals, Wyeth and Yakult. Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (www.jpgn.org). © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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Undisclosed Gluten in Pediatric Multivitamins May Impact Response to a Gluten-free Diet

No abstract available

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Alanyl-Glutamine protects against damage induced by enteroaggregative Escherichia coli strains in intestinal cells

Background: Enteroaggregative Escherichia coli (EAEC) is an important pathogen causing enteric infections worldwide. This pathotype is linked to malnutrition in children from developing countries. Alanyl-glutamine (Ala-Gln) is an immune modulator nutrient that acts during intestinal damage and/or inflammation. This study investigated the effect of EAEC infection and Ala-Gln on cell viability, cell death, and inflammation of intestinal epithelium cells (IEC-6). Methods: Cells were infected with an EAEC prototype 042 strain, an EAEC wild-type strain isolated from a Brazilian malnourished child, and a commensal E. coli HS. Gene transcription and protein levels of caspases-3, -8, and -9 and cytokine-induced neutrophil chemoattractant 1 (CINC-1/CXCL1) were evaluated using RT-qPCR, western blot analysis, and ELISA. Results: Infections with both EAEC strains decreased cell viability and induced apoptosis and necrosis after 24 hours. Ala-Gln supplementation increased cell proliferation and reduced cell death in infected cells. Likewise, EAEC strain 042 significantly increased the transcript levels of caspases-3, -8, and -9 when compared to the control group, and Ala-Gln treatment reversed this effect. Furthermore, EAEC induced CXCL1 protein levels, which were also reduced by Ala-Gln supplementation. Conclusion: These findings suggest that EAEC infection promotes apoptosis, necrosis, and intestinal inflammation with involvement of caspases. Supplementation of Ala-Gln inhibits cell death, increases cell proliferation, and attenuates mediators associated with cell death and inflammatory pathways in infected cells. Address correspondence and reprint requests to Aldo Ângelo Moreira Lima, PhD, R. Cel. Nunes de Melo, 1315, Rodolfo Teófilo, Fortaleza, CEP 60.430-270, CE, Brazil, Institute of Biomedicine, Faculty of Medicine, Federal University of Ceará, Fortaleza, CE, Brazil (e-mail: alima@ufc.br) Received 28 December, 2017 Accepted 9 September, 2018 Conflicts of interest: The authors declare no conflicts of interest. Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (www.jpgn.org). © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

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The genetic architecture of aniridia and Gillespie syndrome

Abstract

Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. Classical aniridia, a panocular eye malformation including foveal hypoplasia, is the archetypal phenotype associated with heterozygous PAX6 loss-of-function mutations. Since this was identified in 1991, many genetic mechanisms of PAX6 inactivation have been elucidated, the commonest alleles being intragenic mutations causing premature stop codons, followed by those causing C-terminal extensions. Rarely, aniridia cases are associated with FOXC1, PITX2 and/or their regulatory regions. Aniridia can also occur as a component of many severe global eye malformations. Gillespie syndrome—a triad of partial aniridia, non-progressive cerebellar ataxia and intellectual disability—is phenotypically and genotypically distinct from classical aniridia. The causative gene has recently been identified as ITPR1. The same characteristic Gillespie syndrome-like iris, with aplasia of the pupillary sphincter and a scalloped margin, is seen in ACTA2-related multisystemic smooth muscle dysfunction syndrome. WAGR syndrome (Wilms tumour, aniridia, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p. Deletions encompassing BDNF have been causally implicated in the obesity and intellectual disability associated with the condition. Lastly, we outline a genetic investigation strategy for aniridia in light of recent developments, suggesting an approach based principally on chromosomal array and gene panel testing. This strategy aims to test all known aniridia loci—including the rarer, life-limiting causes—whilst remaining simple and practical.



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Cushing response-based warning system for intensive care of brain-injured patients

Sivakumar et al. (Sivakumar et al., 2017) found in their investigation that neurointensivists taking care of patients with acute brain injury tended to employ more neurological and hemodynamic monitoring. Neurocritical patients usually have intracranial pressure (ICP) monitoring and ICP has become a valuable parameter in the daily care of these patients during the past four decades. Neurosurgeons and neurointensivists adjust their treatment and estimate the outcome according to the trend of ICP, among other parameters.

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Little effort with big effect – implementing the new IFCN 2017 recommendations on standard EEGs

One year ago, the International Federation of Clinical Neurophysiology (IFCN) recommended the 25-channel montage for the standard use in clinical EEG recording (Seeck et al., 2017), augmenting the world-widely used 60-year old 10/20-System by 6 additional inferotemporal electrodes to a "triple banana" configuration. Still many EEG centers have not yet implemented this simple but very effective measure. Here we demonstrate the big effect of this simple measure in a demonstrative case.

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Network characteristics in benign epilepsy with centro-temporal spikes patients indicating defective connectivity during spindle sleep: a partial directed coherence study of EEG signals

Benign epilepsy with centro-temporal spikes (BECTS) is the earliest recognised and most frequent form of benign focal epilepsy in childhood, accounting for 10-20% of all childhood epilepsies (Holmes, 1993). It appears in children aged 3-13 years, peaks between the ages of seven and nine years, and invariably goes into remission by the age of 14 years(Bouma et al. 1997; Callenbach et al., 2010). It may have genetic determinants with a complex inheritance pattern, but there are few genetic data available (Xiong and Zhou, 2017).

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The present profile of chronic hepatitis B virus infection highlights future challenges: An analysis of the Multicenter Italian MASTER-B cohort

Chronic hepatitis B virus (HBV) infection remains a primary cause of morbidity and mortality worldwide.

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The burden of HBV infection in HCV patients in Italy and the risk of reactivation under DAA therapy

There is increasing awareness of HBV reactivation in HCV-RNA-positive/HBV-coinfected patients with chronic liver disease (CLD) treated with oral direct-acting antivirals (DAAs).

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Very high-risk individuals for colorectal cancer: Local oncologic networks are critically needed!



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IS SOFOSBUVIR/LEDIPASVIR SAFE FOR THE HEARTS OF CHILDREN WITH HEPATITIS C VIRUS?

Symptomatic bradycardia has been reported in adults treated for chronic hepatitis C using sofosbuvir based regimens.

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The risk of Parkinson’s disease in inflammatory bowel disease: A systematic review and meta-analysis

Several studies have reported an increased prevalence of Parkinson disease (PD) amongst patients with inflammatory bowel disease (IBD) with conflicting results. We aimed to evaluate the risk of PD in the IBD population by conducting a meta-analysis (MA).

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Hepatoprotective effect of gastrodin against alcohol-induced liver injury in mice

Abstract

Alcoholic liver disease (ALD) is a common and serious threat to human health worldwide. In this study, the hepatoprotective effect of gastrodin against alcohol-induced liver injury in mice was examined. Mice with alcohol-induced hepatotoxicity were treated intragastrically with gastrodin (50, 80, or 100 mg/kg). The mice treated with gastrodin experienced better outcomes than those who received only one dose of alcohol (50%, 10 mL/kg b.w.). Gastrodin treatment reduced the activities of serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST), decreased hepatic malondialdehyde (MDA) content, and increased hepatic superoxide dismutase (SOD), glutathione peroxidase (GPx), and catalase (CAT) activities in a dose-dependent manner. Gastrodin also alleviated histopathological changes induced by alcohol. Gastrodin protected against alcohol-induced increases in expression levels of the cytochrome P450 2E1 (CYP2E1) and mRNA levels of chemokine (C-X-C motif) ligand 1 (CXCL-1), interferon-γ (IFN-γ), interleukin-6 (IL-6), tumor necrosis factor alpha (TNF-α), vascular cell adhesion molecule 1 (VCAM-1), nuclear factor-kappa B (NF-κB), Toll-like receptor 4 (TLR-4), and activator of transcription 3 (STAT-3). Moreover, gastrodin-increased nuclear transcription factor 2 (Nrf2) translocates to the nucleus and enhanced the activity of anti-oxidant enzymes, and could thereby ameliorate alcohol-induced liver injury in mice. This study demonstrated that gastrodin may be an effective therapeutic agent against alcohol-induced liver injury.



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Reconsidering the minimally important difference: evidence of instability over time and across groups

Underlying cognitive factors have been found to influence patients' symptom experience. Current evidence suggests that concomitant changes in appraisal must be taken into account to accurately interpret change as measured by standard spine patient-reported outcomes (PROs).

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The present profile of chronic hepatitis B virus infection highlights future challenges: An analysis of the Multicenter Italian MASTER-B cohort

Chronic hepatitis B virus (HBV) infection remains a primary cause of morbidity and mortality worldwide.

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The burden of HBV infection in HCV patients in Italy and the risk of reactivation under DAA therapy

There is increasing awareness of HBV reactivation in HCV-RNA-positive/HBV-coinfected patients with chronic liver disease (CLD) treated with oral direct-acting antivirals (DAAs).

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Very high-risk individuals for colorectal cancer: Local oncologic networks are critically needed!



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IS SOFOSBUVIR/LEDIPASVIR SAFE FOR THE HEARTS OF CHILDREN WITH HEPATITIS C VIRUS?

Symptomatic bradycardia has been reported in adults treated for chronic hepatitis C using sofosbuvir based regimens.

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The risk of Parkinson’s disease in inflammatory bowel disease: A systematic review and meta-analysis

Several studies have reported an increased prevalence of Parkinson disease (PD) amongst patients with inflammatory bowel disease (IBD) with conflicting results. We aimed to evaluate the risk of PD in the IBD population by conducting a meta-analysis (MA).

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Characterization of transcriptional responses mediated by benzo[a]pyrene stress in a new marine fish model of goby, Mugilogobius chulae

Abstract

Benzo[a]pyrene (BaP) is one of the most studied targets among polycyclic aromatic hydrocarbons (PAHs). Because of the complexity of the toxicity mechanism in BaP, little is known about the molecular mechanism at the level of transcription of BaP in marine fishes. The primary objective of this study was to investigate the molecular basis of the effects of BaP on marine fish, using Mugilogobius chulae (Smith 1932) as the model. A closed colony of M. chulae was used for the BaP toxicity test. Two fish liver samples per replicate from each group were excised and blended into one sample by pooling an equal amount of liver tissue. Total RNA of all samples was extracted separately. Equal quantities of total RNA from the three replicates of the two groups were pooled for sequencing. The sequencing cDNA libraries were sequenced using Illumina HiSeq 2000 system. Differentially expressed genes were detected with the DEGSeq R package. In total, 52,364,032 and 53,771,748 clean nucleotide reads were obtained in the control and BaP-exposed libraries, respectively, with N50 lengths of 1277 and 1288 bp, respectively. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses revealed a significant enrichment of genes related to detoxification, transportation, and lipid metabolism. We also identified, for the first time, an association between endoplasmic reticulum dysfunction and lipid metabolism resulting from BaP exposure. Using quantitative real-time PCR, some effective molecular biomarkers for monitoring of BaP-polluted seawater were identified. The results demonstrate that BaP enhanced the expression of genes involved in detoxification in M. chulae and inhibited that of genes related to lipid metabolism, possibly by suppressing the expression of numerous ER-related genes involved in fat digestion and absorption.



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EMT-B and Paramedics - First Response Ambulance

First Response Ambulance is looking for hardworking, caring and patient care driven individuals. We are looking for EMT-B to work 12 hour day shifts 3 days a week (plus overtime when available) and also to work a 12 hour night shift. This is a BLS truck and you will have the opportunity to work an ALS truck and move to an ALS truck when it becomes available. The ALS shifts can be 12 or 24 hour shifts ...

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EMS Agenda 2050 Quick Take: Healthy people are better students, workers and citizens

Making the EMS Agenda 2050 become reality will require strengthening the collaboration between EMS, public health and healthcare

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A new rocuronium formulation not causing vascular pain in a flexor reflex model of anesthetized rats

Abstract

Purpose

Intravenous administration of the brand formulation of rocuronium bromide, currently used as a muscle relaxant, has been associated with vascular pain accompanied by withdrawal movements of the arm and wrist. The purpose of this study was to identify the cause of vascular pain induced by the brand formulation and to develop a new rocuronium formulation, not causing vascular pain, using a vascular pain-evoked flexor reflex response model of anesthetized rats.

Methods

A rat flexor reflex model, monitored by electromyography, was used to evaluate a flexor reflex response as the index of vascular pain. A catheter for drug administration was inserted into the superficial caudal epigastric artery. A needle electrode was inserted into a muscle in the femoral area to obtain an electromyogram (EMG) value. The integrated EMG values obtained after the administration of each test drug were compared to the baseline value and quantified.

Results

The acetate buffer contained in the solvent could cause flexor reflex response. Furthermore, the flexor reflex response increased in an acid concentration-dependent manner. Based on these results, we prepared a new rocuronium formulation using a low-acid-concentration buffer solution and found that it decreased the integrated EMG value in the rat model. The integrated EMG value acquired using the brand formulation was reduced by pretreatment with the TRPA1 channel inhibitor.

Conclusion

Our findings suggest that the high acid concentration in the brand formulation buffer solution is the cause of vascular pain. The rocuronium formulation developed using a low-acid-concentration buffer solution might help eliminate vascular pain in the clinic.



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EMS Agenda 2050 Quick Take: Healthy people are better students, workers and citizens

Making the EMS Agenda 2050 become reality will require strengthening the collaboration between EMS, public health and healthcare

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Complete mitochondrial genome of a kind of snakehead fish Channa siamensis and its phylogenetic consideration

Abstract

The snakehead fish, Channa siamensis, belongs to the genus of Channa (perciformes: Channidae) and was first reported by Günther in 1861. Despite it has been described approximately for 15 decades, the genetic information is limited and the taxon status of this kind of fish is still unclear. The primary objective of this study is to get more genomic data and calculate the taxon location of this kind of fish. The next generation sequencing method was used to obtain the whole mitochondrial DNA information, and bioinformatic analysis was performed to investigate the evolutionary status and taxon location of C. siamensis. The circular mitochondrial DNA was 16,570 bp in length, and which showed typical piscine structure and arrangement. The overall nucleotide composition was 29.28% A, 24.72% T, 30.71% C, 15.29% G, with 54.1% AT, respectively. Phylogenetic analyses using concatenated amino acid and nucleotide sequences of the 13 protein-coding genes with two different methods (Maximum likelihood and Bayesian analysis) both highly supported C. siamensis belongs to the genus Channa and shows a close relationship with C. micropeltes. These data will provide more useful information for a better understanding of the mitochondrial genomic diversities and evolution in fish as well as novel genetic markers for studying population genetics and species identification.



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Genetic analysis of roots and shoots in rice seedling by association mapping

Abstract

The vigorous shoots and roots help to improve drought resistance and post-transplanting recovery in rice seedlings (Oryza sativa L.). Hundreds of loci related to root system have been identified recently, but little research has been done on shoot traits, and the relationship between roots and shoots development is also still unclear. The objective of this study was to identify associated loci for roots and shoots in rice seedlings as well as to screen pleiotropic QTLs involved in coordinated development of roots and shoots. Using mini core collection of 273 cultivated rice accessions and 280 simple-sequence repeat markers, we investigated six traits [root length (RL), root thickness (RT), root weight (RW), shoot length (SL), shoot weight (SW) and ratio of root-to-shoot mass] in seedlings. Study was performed in hydroponic medium and genetic analysis was performed by association mapping using general linear model (GLM) with population structure (Q) and mixed linear model (MLM) involving Q and familial relatedness (K). Two subgroups indica and japonica showed significant differences in RT, RW and SW. Maximum correlation was observed between RW and SW. Using GLM 65 QTLs for root and 43 QTLs associated with shoot traits were detected. Among them, seven QTLs were present between RL and RW and five common QTLs were detected between SL and SW with high phenotypic variation effects (PVEs). Two key pleiotropic QTLs were also identified involved in collaborative development of roots and shoots in rice seedlings. Importantly, 17 and 10 QTLs were identified for root and shoot traits respectively in both studies of GLM and MLM. More common QTLs with high PVEs between root and shoot traits suggested that longitudinal growth (RL and SL) played an important role in accumulation of biomass (RW and SW). Considering the obvious phenotypic differences and fewer common QTLs between indica and japonica, we suggested that there could be different mechanisms of seedling development between both subpopulations. Key pleiotropic QTLs and QTLs identified for root and shoot traits in both studies of GLM and MLM could be preferentially used in marker-assisted breeding for strong rice seedling.



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Flutter sensitivity in FM bats. Part II: amplitude modulation

Abstract

Bats use echolocation to detect targets such as insect prey. The echolocation call of frequency-modulating bats (FM bats) typically sweeps through a broad range of frequencies within a few milliseconds. The large bandwidth grants the bat high spatial acuity in depicting the target. However, the extremely short call duration and the overall low duty cycle of call emission impair the bat's capability to detect e.g. target movement. Nonetheless, FM bats constitute more than 80% of all echolocating species and are able to navigate and forage in an environment full of moving targets. We used an auditory virtual reality approach to generate changes in echo amplitude reflective of fluttering insect wings independently from other confounding parameters. We show that the FM bat Phyllostomus discolor successfully detected these modulations in echo amplitude and that their performance increased with the rate of the modulation, mimicking faster insect wing-beats. The ability of FM bats to detect amplitude modulations of echoes suggests a release from the trade-off between spatial and temporal acuity and highlights the diversity of selective pressures working on the echolocation system of bats.



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Pain relief following a single‐dose intra‐articular injection of methylprednisolone in the temporomandibular joint arthralgia – a multi‐centre randomised controlled trial

Journal of Oral Rehabilitation, Volume 0, Issue ja, -Not available-.


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National recognition of first responders and humanizing industry personnel

Our co-hosts discuss two current events that both put a spotlight on the career field and call attention to the individuality of its professionals

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Renal arteriovenous fistula induced by extracorporeal shock wave lithotripsy treated by retroperitoneoscopic nephrectomy

Asian Journal of Endoscopic Surgery, EarlyView.


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National recognition of first responders and humanizing industry personnel

Our co-hosts discuss two current events that both put a spotlight on the career field and call attention to the individuality of its professionals

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Meeting the population health challenge: what should you know, and what should you be able to do?



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Twenty years observation of health systems and policies: what has the European observatory meant for public health?

Twenty years ago, as Europe was preparing itself for the new millennium with a mixture of enthusiasm and trepidation, the WHO Regional Director for Europe established a clearing house for health care reforms that would ultimately give birth to 'The European Observatory on Health Care Systems'. Health systems in central and Eastern Europe were changing rapidly, with consequences for the health of the populations concerned. In Western Europe, some were exploring ways to exercise their rights to cross-border health care within the European Union and exploring new possibilities to protect health under the powers bestowed by the Maastricht Treaty. Into this melting pot came a group of visionary and passionate young individuals who were deeply committed to observing all that was going on, competently analysing the effects on population health and travelling all over Europe to spread the message. In a nutshell, that is the contribution the European Observatory on Health Systems and Policies has made to shape the health policy landscape in Europe.

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European Public Health News

In this European public health news, all authors highlight the importance of health on political and social agendas. Muscat reflects on the importance of strong primary care, taking into account new societal developments such as health literacy. Jakab celebrates the 10th anniversary of the Tallinn Charter on people-centred health systems. The slogan 'solidarity, equity and participation' of 2008 is changed to 'include, invest and innovate' in 2018. Zeegers again addresses the need for a strong public health workforce emphasizing that new skills are needed to meet the new societal developments. Andriukaitis presents the new EU budget 2021–27, where the health budget crosses and connects different fields thereby reinforcing the centrality of health and health care. Erzen highlights the plenary programme of the Ljubljana 2018 conference where all these topics are discussed: from living in a digital world to new ways of communication, from health systems under pressure to core capacities in public health.

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Two novel SNPs in the promoter region of PKR gene in hepatitis C patients and their impact on disease outcome and response to treatment

Publication date: Available online 20 September 2018

Source: Arab Journal of Gastroenterology

Author(s): Dina El-Dahshan, Doaa Bahy, Ahmed Wahid, Amr E. Ahmed, Amro Hanora

Abstract
Background and study aims

The double-stranded RNA dependent protein kinase (PKR) plays a vital role in the immune system. During HCV infection, PKR has antiviral effect by inhibition of protein synthesis of the HCV. The functional single nucleotide polymorphisms (SNPs) in PKR promoter region might have a relation to HCV disease outcome and response to treatment. The objective of the present work was threefold. First, it proposed an optimized protocol for PCR amplification of PKR promoter. Second, it screened the promoter region of PKR gene in HCV Egyptian patients to detect the possible SNPs' function. Third, to study the association between the detected SNPs and the response to treatment.

Patients and methods

The functional SNPs in PKR promoter region were detected using DNA sequencing in 40 HCV infected patients; 20 sustained virologic response (SVR) patients and 20 nonresponse (NR) patients after combined interferon/ribavirin therapy. Twenty healthy subjects were included as a control.

Results

Two functional SNPs were detected: rs62133148T>G and rs12992188C>T within our target PKR promoter region. In rs62133148 polymorphism, there is a significant difference between patients and control subjects for TT and TG genotypes (p < 0.0001). In addition, the G allele is more predominant in HCV patients. In rs12992188 polymorphism, the CC genotype is significantly different between patients and healthy control subjects (OR/95% CI: 0.033/0.006–0.172, p < 0.0001). The presence of C allele was significantly associated with the NR patients (OR/95%CI: 0.25/0.097–0.643, p = 0.006). The TT genotype is significantly different between SVR and NR (OR/95%CI: 8.5/1.54–46.871, p = 0.014).

Conclusion

This study is a pioneer clinical study on these two functional SNPs (rs62133148T>G and rs12992188 C>T). The rs62133148 polymorphism does not show any association with response to treatment. The TT genotype in rs12992188 polymorphism shows association with response to treatment. Therefore, patients with TT genotypes were more likely to achieve SVR.



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Occult hepatitis C virus infection among haemodialysis patients

Publication date: Available online 20 September 2018

Source: Arab Journal of Gastroenterology

Author(s): Naiema K. Ali, Ragaa R. Mohamed, Bothina E. Saleh, Manal M. Alkady, Eman S. Farag

Abstract
Background and study aims

Hepatitis C virus (HCV) infection is a severe problem among patients on maintenance haemodialysis who are at particular risk for blood-borne infections because of prolonged vascular access and potential for exposure to contaminated equipment. Occult hepatitis C virus infection (OCI) is defined as the presence of HCV RNA in liver or peripheral blood mononuclear cells (PBMCs) in the absence of detectable HCV antibody or HCV RNA in the serum. In this study, we aimed to investigate the existence of occult hepatitis C virus infection in PBMCs of haemodialysis (HD) patients in one center. Moreover, we tried to link the condition to risk factors associated with HCV infection in those patients.

Patients and methods

We included 40 patients with renal diseases undergoing regular haemodialysis who were repeatedly anti-HCV negative. HCV RNA detection was tested by Quantitative Real time PCR in serum and PBMCs.

Results

The results of this study revealed that 23% of our haemodialysis patients have occult hepatitis C virus infection. There was a highly significant increase in ALT levels in patients with OCI versus the negative group. Also, there is a significant increase of history of blood transfusion in patients with occult HCV (p = 0.03) while the duration of haemodialysis showed no statistical significant difference between both groups. The viral load of the occult hepatitis C virus infection subjects ranged from 581to 74,307 copies/ml.

Conclusion

These results highlight the potential risk of hepatitis C virus transmission from patients within haemodialysis units in Egypt. Isolation of patients on dialysis machines depending on the results of hepatitis serological markers is not enough. Testing for hepatitis C virus -RNA in peripheral blood mononuclear cells is more reliable in identifying patients with an OCI when a liver biopsy is not available.



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Tumor-specific genetic aberrations in cell-free DNA of gastroesophageal cancer patients

Abstract

The applicability of liquid biopsies is studied intensively in all types of cancer and analysis of circulating tumor DNA (ctDNA) has recently been implemented clinically for mutation detection in lung cancer. ctDNA may provide information about tumor quantity and mutations present in the tumor, and as such have many potential applications in diagnosis and treatment of cancer. It has been suggested that ctDNA analysis may overcome the issue of intra-tumor heterogeneity faced by tissue biopsies and serve as an additional diagnostic tool. Furthermore, liquid biopsies are potentially helpful for monitoring of treatment response as well as detection of minimal residual disease and relapse. Gastroesophageal cancers (GEC) have high mortality rates and the majority of patients present with advanced stage at diagnosis or succumb due to disease recurrence even after radical resection of the primary tumor. Biomarkers that can help optimize treatment strategy are thus highly desirable. The present study is a review of published data on ctDNA in GEC patients. We identified 25 studies in which tumor-specific genetic aberrations were investigated in plasma or serum and discuss these in relation to the methods applied for ctDNA analysis. The methods used for ctDNA detection greatly influence the sensitivity of the analysis and, therefore, the potential clinical applications. We found that studies of ctDNA in GEC, although limited in number, are promising for several applications such as genetic profiling of tumors and monitoring of disease progression. However, more studies are needed to establish if and how this analysis can be clinically implemented.



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Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy

Abstract

Most cases of Usher syndrome type II (USH2) are due to mutations in the USH2A gene. There are no effective treatments or ideal animal models for this disease, and the pathological mechanisms of USH2 caused by USH2A mutations are still unknown. Here, we constructed a ush2a knockout (ush2a−/−) zebrafish model using TALEN technology to investigate the molecular pathology of USH2. An early onset auditory disorder and abnormal morphology of inner ear stereocilia were identified in the ush2a−/− zebrafish. Consequently, the disruption of Ush2a in zebrafish led to a hearing impairment, like that in mammals. Electroretinography (ERG) test indicated that deletion of Ush2a affected visual function at an early stage, and histological analysis revealed that the photoreceptors progressively degenerated. Rod degeneration occurred prior to cone degeneration in ush2a−/− zebrafish, which is consistent with the classical description of the progression of retinitis pigmentosa (RP). Destruction of the outer segments (OSs) of rods led to the down-regulation of phototransduction cascade proteins at late stage. The expression of Ush1b and Ush1c was up-regulated when Ush2a was null. We also found that disruption of fibronectin assembly at the retinal basement membrane weakened cell adhesion in ush2a−/− mutants. In summary, for the first time, we generated a ush2a knockout zebrafish line with auditory disorder and retinal degeneration which mimicked the symptoms of patients, and revealed that disruption of fibronectin assembly may be one of the factors underlying RP. This model may help us to better understand the pathogenic mechanism and find treatment for USH2 in the future.



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Effects of a cardiorespiratory synchronization training mobile application on heart rate variability and electroencephalography in healthy adults

Publication date: Available online 20 September 2018

Source: International Journal of Psychophysiology

Author(s): I-Mei Lin

Abstract

Cardiorespiratory synchronization training (CRST) uses diaphragmatic breathing to increase balance in the autonomic nervous system and reduce negative emotions. CRST integrated with high-technology mobile applications affords innovative and convenient home-based training. This study examined the effects of a CRST mobile application on heart rate variability (HRV) and electroencephalography (EEG) parameters in healthy adults. Ninety-six participants were randomly assigned to the CRST, relaxation training (RT; active control group), and control (C) groups. The CRST group received paced breathing training using a wearable device connected to a mobile application and received feedback on the HRV indices. The RT group received muscle relaxation training using a wearable device connected to a mobile application and received feedback on heart rate (HR). The training program was conducted for 1 h per week for 4 weeks. The C group did not receive any wearable device, mobile application, or psychological intervention. Psychological questionnaires on depression and anxiety and physiological measurements of the breathing rates, electrocardiography (ECG), and EEG were measured at the pretest and posttest. The CRST group showed significantly higher HRV indices and lower breathing rates at the posttest than the RT and C groups. There were no significant interaction effects on EEG parameters at pretest and posttest among the three groups. Use of a CRST mobile application increased balance in the autonomic nervous system at the resting state. This clinical evidence-based technologically advanced mobile application could be implemented in future clinical practice.



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Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

Clinical Genetics, Volume 0, Issue ja, -Not available-.


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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome

American Journal of Medical Genetics Part A, EarlyView.


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Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290‐300

American Journal of Medical Genetics Part A, EarlyView.


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Assessing Head/Neck Dynamic Response to Head Perturbation: A Systematic Review

Abstract

Background

Head/neck dynamic response to perturbation has been proposed as a risk factor for sports-related concussion.

Objectives

The aim of this systematic review was to compare methodologies utilised to assess head/neck dynamic response to perturbation, report on magnitude, validity and reliability of the response, and to describe modifying factors.

Methods

A systematic search of databases resulted in 19 articles that met the inclusion and exclusion criteria.

Results

Perturbation methods for head/neck dynamic response included load dropping, quick release and direct impact. Magnitudes of perturbation energy varied from 0.1 to 11.8 J. Head/neck response was reported as neck muscle latency (18.6–88.0 ms), neck stiffness (147.2–721.9 N/rad, 14–1145.3 Nm/rad) and head acceleration (0.2–3.8g). Reliability was only reported in two studies. Modifying factors for head/neck response included younger and older participants presenting increased responses, females showing better muscular reactivity but similar or increased head kinematics compared with males, and bracing for impact limiting muscular activity and head kinematics.

Discussion

Substantial differences in experimental and reporting methodologies limited comparison of results. Methodological factors such as impact magnitude should be considered in future research.

Conclusion

Each methodology provides valuable information but their validity for anticipated and unanticipated head impacts measured in vivo needs to be addressed. Reports on head/neck response should include measurement of transmitted force, neck muscle latency, head linear and rotational accelerations, and neck stiffness. Modifying factors of anticipation, participants' age, sex, and sport are to be considered for head/neck dynamic response.

PROSPERO Registration Number

CRD42016051057 (last updated on 27 February 2017).



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Exercise Increases MAIT Cell Cytokine Expression but not Activation or Homing Markers

Mucosal associated invariant T (MAIT) have properties of both the innate and adaptive immune systems but are an understudied population within exercise immunology. These lymphocytes aggregate at the mucous membranes, but it is unknown if submaximal exercise alters their circulating numbers or function. PURPOSE To determine the MAIT cell response to submaximal exercise on activation and homing marker expression and stimulated cytokine production. METHODS Twenty healthy, young, recreationally active males cycled for 40 min at 86% of VT following an overnight fast. Peripheral blood mononuclear cells were isolated and labelled to identify specific MAIT cell populations using flow cytometry. Cytokine production following stimulation was also determined. RESULTS MAIT cells were 2.9% of T-cells and increased to 3.9% after exercise and with recovery whereas cell numbers significantly increased by 91.5% following exercise before returning to resting levels. Chemokine and activation marker absolute cell number significantly increased while expression levels remained constant but the high levels of CCR5 may help direct MAIT cells to sites of inflammation. Following stimulation, TNFα expression significantly increased after exercise before returning to baseline with a similar trend for IFNγ. CONCLUSIONS MAIT cell numbers undergo a partial biphasic response following submaximal exercise and appear to be preferentially mobilized within T-cells; however, the magnitude of the submaximal response was attenuated relative to maximal exercise. Stimulated MAIT cells increase TNFα expression, indicating greater responsiveness to pathogens following acute exercise. Corresponding Author: Erik D. Hanson, PhD, Department of Exercise and Sport Science, CB#8605, 315 Woollen Gym, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, Phone: 919.962.0816. Email: edhanson@email.unc.edu Funding sources: Junior Faculty Development Award (EH); University Research Council Award (EH) from the University of North Carolina. The UNC Flow Cytometry Core Facility is supported in part by P30 CA016086 Cancer Center Core Support Grant to the UNC Lineberger Comprehensive Cancer Center. Research reported in this publication was supported by the Center for AIDS Research award number 5P30AI050410. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The results of the study are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation, and do not constitute endorsement by ACSM. The authors have no conflict of interest to report. Accepted for Publication: 31 August 2018. © 2018 American College of Sports Medicine

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Health-related Outcomes following a Youth Sport–related Knee Injury

Purpose Active youth are vulnerable to knee injury and subsequent osteoarthritis. Improved understanding of the association between health-related outcomes and history of joint injury could inform osteoarthritis prevention strategies. The purpose of this historical cohort study is to examine the association between youth sport-related knee injury and various clinical, physiological, behavioral and functional health-related outcomes, 3-10 years post-injury. Methods Participants included 100 individuals who experienced a youth sport-related knee injury 3-10 years earlier and 100 age, sex and sport-matched uninjured controls. Outcomes include; Knee injury and Osteoarthritis Outcome Score (KOOS), Intermittent and Constant Osteoarthritis Pain Score, body mass index (BMI), fat mass index (FMI), weekly physical activity, estimated aerobic capacity, hip and knee muscle strength, and dynamic balance. Baseline characteristics were described. Multivariable regression models (95%CI) were used to evaluate the association between injury history and each outcome, considering the influence of sex and time-since-injury. Results Participant median age was 22 years (range 15-26) and 55% were female. The injured group demonstrated poorer KOOS sub-scale scores, more total and intermittent pain, higher BMI (1.8kg/m2; 95%CI 0.9,2.6), higher FMI (1.1kg/m2; 95%CI 0.5,1.6), weaker knee extensor (-0.18 NM/kg; 95%CI -0.33,-0.02) and flexor (-0.21 Nm/kg; 95%CI -0.30,-0.11) muscles, and poorer balance than controls. In the previously injured group, female sex was associated with poorer KOOS quality-of-life scores, knee flexor strength and greater FMI, while longer time-since-injury was associated with poorer KOOS symptoms scores, knee extensor strength and balance outcomes. Conclusion Youth that suffer a sport-related knee injury demonstrate on average more negative health-related outcomes consistent with future osteoarthritis compared to uninjured matched controls 3-10 years following injury. These negative outcomes differ by sex and time-since-injury. Corresponding Author: Dr. Jackie Whittaker, Department of Physical Therapy, Faculty of Rehabilitation Medicine, University of Alberta, 2-50 Corbett Hall, 8205-114 Street, Edmonton, AB, Canada, T6G 2G4. Tel: 1-780-492-5970 Fax: 1-780-492-4429 E-mail: jwhittak@ualberta.ca The Alberta PrE-OA cohort is funded by the Canadian Institutes of Health Research (MOP 133597), the Alberta Team Osteoarthritis Team supported by Alberta Innovates and the Alberta Children's Hospital Research Institute Chair in Pediatric Rehabilitation (Alberta Children's Hospital Foundation). CONFLICT OF INTEREST: JW and CT were awarded AIHS Clinician Fellowships to support this cohort study. LJW has a consultation arrangement with Eli Lilly Inc. CAE holds a Chair in Pediatric Rehabilitation funded by the Alberta Children's Hospital Foundation. All other authors certify that they have no affiliations with or financial involvement in any organization or entity with a direct financial interest in the subject matter or materials discussed in the article. The sponsors had no involvement with respect to design, collection or data, analyses, interpretation writing or submission. The results of the study are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation and do not constitute endorsement by the ACSM. Accepted for Publication: 12 September 2018. © 2018 American College of Sports Medicine

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Baseline Concussion Clinical Measures Are Related to Sensory Organization and Balance

Purpose To examine relationships among baseline demographics, symptom severity, computerized neurocognitive outcomes, and balance performance in collegiate athletes. Methods Collegiate varsity athletes (N=207, age=19.3 ± 1.0 years) participating in an ongoing clinical research program who completed concussion baseline assessments including a demographic questionnaire, graded symptom checklist, neurocognitive assessment, and the Sensory Organization Test (SOT) were included in this study. The SOT composite equilibrium score (COMP) and three sensory ratio scores—vestibular (VEST), visual (VIS), and somatosensory (SOM)—were used to describe athletes' overall sensory organization and ability to utilize input from each sensory system to maintain balance. Separate stepwise multiple linear regression models were performed for each SOT outcome. Total symptom severity level and CNS Vital Signs domain scores served as predictor variables. Results Stepwise regression models for COMP (R2 = 0.18, F4,201 = 11.29, P

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Validation of the Six-Minute Walk Test for Predicting Peak VO2 in Cancer Survivors

Purpose To assess the quality of the relationship between VO2peak estimated from patient outcomes on the 6-minute walk test (6-MWT) and the VO2peak calculated from patient outcomes on the University of Northern Colorado Cancer Rehabilitation Institute (UNCCRI) treadmill protocol. Methods Cancer survivors (N = 187) completed the UNCCRI treadmill protocol and a 6MWT one week apart in randomized order to obtain VO2peak. Values from the UNCCRI treadmill protocol were compared against four common 6MWT VO2peak prediction equations. Results All four 6MWT prediction equations significantly (p

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Effects of Napping on Alertness, Cognitive, and Physical Outcomes of Karate Athletes

Purpose It has been suggested that napping is the best recovery strategy for athletes. However, researches on the impacts of napping on athletic performances are scarce. The aim of this study was to determine the effects of a 30-minute nap following a partial sleep deprivation, or a normal night condition, on alertness, fatigue, and cognitive and physical outcomes. Methods Thirteen national-level male karate athletes were randomized to experience nap and no-nap conditions, after either a reference or a partial sleep deprivation night. The nap lasted 30 minutes at 13:00. The post-nap testing session started at 14:00 by quantifying subjective alertness and fatigue. Cognitive and physical performances were respectively measured before and after the Karate Specific Test (KST) by Simple Reaction Time (SRT) test, Lower Reaction Test (LRT), Mental Rotation Test (MRT), Squat Jump (SJ) and Counter Movement Jump (CMJ) tests. Results After a reference night, the nap improved alertness and cognitive outcomes (SRT, LRT, and MRT). No effects on subjective fatigue and physical performances were found. After a partial-sleep deprivation, the nap restored subjective alertness and the decrement in performances caused by sleep loss in most of the tests (MRT, LRT, and KST), but no effects were observed in subjective fatigue and CMJ. After the fatigue induced by KST, there was an ergogenic effect of the nap on the physical performances (CMJ, and SJ), and a partial psychogenic effect on the cognitive performances (LRT). Conclusion A 30-minute nap enhances cognitive outcomes. It is also an effective strategy to overcome the cognitive and physical deteriorations in performances caused either by sleep loss or by fatigue induced by exhaustive trainings in the afternoon. Address for correspondence: Professor Damien Davenne, COMETE, PFRS, 2 rue des Rochambelles, F-14032 CAEN, FRANCE. E-mail: Damien.davenne@unicaen.fr. Tel (+33) 2 31 56 81 32 This research was financially supported by the laboratory UMR 1075 INSERM/Unicaen, COMETE. No conflicting financial, consultant, institutional, or other interests exist. Results of the present study do not constitute endorsement by the American College of Sports Medicine. The results of this study are presented clearly, honestly, and without fabrication, falsification, or inappropriate data manipulation. Accepted for Publication: 14 August 2018. © 2018 American College of Sports Medicine

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Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

Abstract

Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity. Here we present a review of the clinical features and genes associated with aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, and syndromic forms of these conditions. We also highlight phenotype–genotype correlations, recent discoveries with next-generation sequencing which broaden known phenotypes, and new anterior segment genes and pathways. We provide a guide towards genetic diagnosis for clinicians investigating patients with anterior segment dysgenesis.



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