Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.

Activity-dependent neuroprotective protein (ADNP) is essential for neurodevelopment and de novo mutations in ADNP cause the ADNP syndrome. From brain pathologies point of view, tauopathy has been demonstrated at a young age, implying stunted development coupled with early/accelerated neurodegeneration. Given potential genotype-phenotype differences and age-dependency, we have assessed here a cohort of 15 individuals (1-27-year-old), using 1-3 longitudinal parent (caretaker) interview/s (Vineland 3 questionnaire) over several years.

Non-alcoholic fatty pancreas disease and pancreatic exocrine insufficiency: pilot study and systematic review.

Introduction: The prevalence of non-alcoholic fatty pancreas disease (NAFPD) is estimated as 2-46% among patients without known pancreatic diseases. An association between NAFPD and non-alcoholic fatty liver disease (NAFLD) has been proposed, as well as an association between NAFPD and pancreatic exocrine insufficiency (PEI).

Patients And Methods: Patients with histologically confirmed NAFLD were included in the study.

A Comparison of Short Versus Long Course Intravenous Antibiotics When Treating Urinary Tract Infection in Infants <60 Days of Age.

Urinary tract infections (UTIs) are a common reason for hospitalization in infants younger than 60 days, and the optimal approach to intravenous (IV) antibiotic therapy upon UTI diagnosis in this cohort is unknown. We determined whether there was an association between IV antibiotic therapy duration (long [>3 days] vs short [≤3 days]) and treatment failure via a retrospective review of infants with confirmed UTIs receiving IV antibiotics at a tertiary referral center. A total of 403 infants were included; 39% were treated with ampicillin and cefotaxime, and 34% with ampicillin and gentamycin or tobramycin.

The possible association between neurodegenerative/demyelinating neurological disorders in achalasia patients.

The precise pathogenesis of achalasia is still unclear. Neurodegenerative and/or demyelinating disorders (NDD) appear to share some common pathophysiological pathways described in achalasia such as inflammation, autoimmune, mitochondrial dysfunction, and neurodegeneration. Jerie et al.

Recurrent UPJ obstruction following paediatric pyeloplasty is associated with an initial <2.5cm incision open surgical approach.

Objectives: To determine the risk factors that affect surgical outcomes for pediatric pyeloplasty, and whether this may be related to the choice of operative approach.

Methods: A retrospective cohort study was performed to evaluate clinicodemographic and operative characteristics of children undergoing dismemberment pyeloplasty by 2 senior pediatric urologists in our tertiary institution between Jan 2008 - Dec 2017. Outcomes included overall complications, re-stenosis, and revision pyeloplasty based on clinic-radiological parameters.

Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.

Activity-dependent neuroprotective protein (ADNP) is one of the lead genes in autism spectrum disorder/intellectual disability. Heterozygous, de novo ADNP mutations cause the ADNP syndrome. Here, to evaluate natural history of the syndrome, mothers of two ADNP syndrome boys aged 6 and a half and two adults aged 27 years (man and woman) were subjected to Vineland III questionnaire assessing adaptive behavior.

The yield of solid swallows in high resolution esophageal manometry among patients with dysphagia and gastro-esophageal reflux symptoms.

Background: Swallowing disorders are frequently reported esophageal symptoms and represent a common cause for referrals to gastroenterology consultations. Esophageal high-resolution manometry (HRM) is considered the gold standard modality for the evaluation of esophageal peristalsis and esophageal sphincter. The standard protocol of HRM includes water swallows only, that may not assess appropriately esophageal function and symptoms.

The Relationship Between Tachycardia After Laparoscopic Sleeve Gastrectomy and the Development of Postoperative Complications.

Background: Bariatric surgery can be associated with severe complications. Tachycardia is an important indicator of certain complications, such as anastomotic leak and hemorrhage. Our aim was to examine the relationship between tachycardia following sleeve gastrectomy and the appearance of associated complications.

The Possible Association of Non-Alcoholic Fatty Liver Disease with Acute Cholangitis: A Retrospective Multicenter Cohort Study.

Non-alcoholic fatty liver disease (NAFLD) is increasingly encountered. It is associated with several comorbid diseases. However, its association with infectious biliary diseases is still unknown.

The Yield of Endoscopy and Histology in the Evaluation of Esophageal Dysphagia: Two Referral Centers' Experiences.

: The initial diagnostic test required to evaluate esophageal dysphagia is upper endoscopy (EGD) to assess the structure of the esophagus and the esophageo-gastric junction (EGJ). Taking biopsies during EGD has become a common practice in patients with dysphagia to rule out eosinophilic esophagitis (EoE). The aims of this study were to evaluate the endoscopic findings of patients who underwent EGD for esophageal dysphagia, to assess the rate of biopsy taking from the esophagus to diagnose/exclude EoE, and to report histology outcomes of these biopsies.

A Novel Clinical Score Predicting the Presence of Fatty Pancreas.

Background: Fatty pancreas (FP) has become an increasingly encountered entity in recent years. Several studies have shown an association with several disease states.

Aims: we aimed to generate a simple non-invasive scoring model to predict the presence of FP.

Achalasia in the Elderly: Diagnostic Approach and a Proposed Treatment Algorithm Based on a Comprehensive Literature Review.

Achalasia is not uncommonly diagnosed in elderly patients and its incidence and prevalence are growing in this population. However, a scarcity of studies has assessed the typical pathophysiological and clinical features of the disease as well as the effectiveness and safety of the various therapeutic options in elderly populations. Botulinum toxin injection has been used for achalasia treatment since 1994 and is traditionally considered the preferred treatment for fragile elder patients.

Serum Albumin to Creatinine Ratio as Predictor for 30-Day All-Cause Mortality in Patients with Associated Diarrhea.

Background: -associated diarrhea (CDAD) is a significant cause of mortality and morbidity in hospitalized patients. Several scores have developed in order to assess the severity of CDAD.

Objective: To determine the role of the serum albumin to creatinine ratio (sACR) in predicting the 30-day all-cause mortality of patients with CDAD in comparison with other known severity scores of CDAD.

A systematic review of outcomes of Deflux® treatment for vesicoureteral reflux following pediatric renal transplantation.

Introduction: Vesicoureteral reflux (VUR) after renal transplant in the pediatric population may be associated with an increased incidence of urinary tract infection (UTIs) leading to increased morbidity, including graft dysfunction and graft loss. The non-orthotopic location of the transplanted ureter, and lack of submucosal tunnel may pose challenges in correcting the VUR using endoscopic injection techniques. Herein we report the results of a systematic review evaluating the outcomes of endoscopic treatment of VUR using Deflux® in this population.

Post-Diverticulitis Colonoscopy Was Not Associated with Higher Colonic Adenoma and Carcinoma: A Multicenter Case-Control Study.

Colonoscopy following an episode of acute diverticulitis is currently recommended to rule out underlying colon cancer. However, a number of studies have debated this recommendation. We aimed to explore whether patients with colonic diverticulosis who experienced an episode of acute diverticulitis had higher prevalence colonic pathologies, essentially colonic adenomas and colorectal carcinoma (CRC) on a follow-up colonoscopy.

Diagnostic approach to faecal incontinence: What test and when to perform?

Faecal incontinence (FI) is a debilitating common end result of several diseases affecting the quality of life and leading to patient disability, morbidity, and increased societal burden. Given the various causes of FI, it is important to assess and identify the underlying pathomechanisms. Several investigatory tools are available including high-resolution anorectal manometry, transrectal ultrasound, magnetic resonance imaging, and electromyography.

Nonattendance to gastroenterologist follow-up after discharge is associated with a thirty-days re-admission in patients with inflammatory bowel disease: a multicenter study.

Background: Inflammatory bowel disease (IBD) is a set of chronic inflammatory diseases associated with significant morbidity and high hospitalization rate. IBD patients are particularly prone to rehospitalization resulting in high medical cost and morbidity. The aim of this study was to assess laboratory and clinical predictors of readmission in patients who were hospitalized with IBD flare.

Pancreatic and hepatobiliary manifestations of nonalcoholic fatty pancreatic disease: a referral multi-center experience.

Background: Nonalcoholic fatty pancreatic disease (NAFPD) is an increasingly recognized disease with accumulating evidence of associated co-morbidities. However, data linked with other pancreatic and hepatobiliary disorders are still being studied.

Aims: To investigate the association of pancreato-hepato-biliary disorders with NAFPD.

Nonalcoholic fatty liver disease and the risk of post-endoscopic retrograde cholangiopancreatography pancreatitis: the hidden danger.

Background: Nonalcoholic fatty liver disease (NAFLD) has been identified as risk factor for several diseases; however, its association with post endoscopic retrograde cholangiopancreatography pancreatitis (PEP) has not been studied.

Aims: To assess whether NAFLD is a risk factor for the development of PEP.

Methods: We performed a retrospective multicenter study.