GLP-1 receptor agonists may enhance the effects of desmopressin in individuals with AVP deficiency: a case series and proposed mechanism.

Background: Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) have diverse effects on sodium and water homeostasis. They decrease thirst perception, potentially inhibit arginine vasopressin (AVP) production, and induce natriuresis. We present three cases of AVP deficiency (AVP-D) where GLP-1 RA initiation led to desmopressin dose reduction.

Physiological Impacts of Energy Drink Consumption: A Clinical Analysis in Adolescents.

Energy drink (ED) consumption among Israeli-Arab adolescents is widespread. This study aimed to investigate the acute glycemic and insulin effects of EDs in healthy adolescents. Seventy-one Israeli-Arab adolescents (56% girls, average age 16.

Phenotypic quantification of Nphs1-deficient mice.

Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of steroid-resistant nephrotic syndrome is congenital nephrotic syndrome Finnish type (CNSF), caused by biallelic loss-of-function variants in NPHS1, encoding nephrin. Since each of the 68 monogenic causes of steroid-resistant nephrotic syndrome represents a rare cause of the disease, tailoring therapeutic interventions to multiple molecular targets remains challenging, suggesting gene replacement therapy (GRT) as a viable alternative.

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish type (CNF) (MIM# 256300) is caused by biallelic variants in the gene NPHS1, encoding nephrin, an integral component of the kidney filtration barrier. No causal treatments exist, and children inevitably require kidney replacement therapy.

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.

Background: Steroid-resistant nephrotic syndrome is the second leading cause of chronic kidney disease among patients < 25 years of age. Through exome sequencing, identification of > 65 monogenic causes has revealed insights into disease mechanisms of nephrotic syndrome (NS).

Methods: To elucidate novel monogenic causes of NS, we combined homozygosity mapping with exome sequencing in a worldwide cohort of 1649 pediatric patients with NS.

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease.

Background: Steroid-resistant nephrotic syndrome is the second leading cause of chronic kidney disease among patients <25 years of age. Through whole exome sequencing, identification of >65 monogenic causes has rendered insights into disease mechanisms of nephrotic syndrome.

Methods: To elucidate novel monogenic causes of NS, we combined homozygosity mapping with ES in a worldwide cohort of 1649 pediatric patients with NS.

Quantitative phenotyping of knockout mice as a prerequisite for gene replacement studies.

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in can cause congenital nephrotic syndrome of the Finnish type, for which, to date, no causative therapy is available.

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of chronic kidney disease that manifests in children. To date ~23 different monogenic causes have been implicated in isolated forms of human CAKUT, but the vast majority remains elusive. In a previous study, we identified a homozygous missense variant in E26 transformation-specific (ETS) Variant Transcription Factor 4 (ETV4) causing CAKUT via dysregulation of the transcriptional function of ETV4, and a resulting abrogation of GDNF/RET/ETV4 signaling pathway.

Associations of Helicobacter pylori seropositivity and gastric inflammation with pediatric asthma.

Objective: Controversy exists regarding an association between Helicobacter pylori infection and asthma in children. We examined the hypotheses of inverse associations of H. pylori seroprevalence and pepsinogen (PG) levels, as markers of gastric inflammation, with asthma in children.

Energy drinks in children and adolescents: demographic data and immediate effects.

Energy drinks consumption has become increasingly common in the last few years, despite evidence associating these products with vast adverse health effects. This led us to explore the phenomenon of energy drinks consumption in adolescents in the Israeli Arab population of the Nazareth area (Northern Israel), examining their awareness of risks associated with consumption of energy drinks, investigating their immediate effects on the body. Our study revealed that the consumption of energy drinks is very common in adolescents of both sexes, though more common in boys.

[RECURRENT WANDERING PNEUMONIA AS AN UNUSUAL PRESENTATION OF FOREIGN BODY ASPIRATION].

Introduction: In cases of recurrent pneumonia that involved both lungs, foreign body aspiration (FBA) requires a high index of suspicion.

Background: A previously healthy one-year old boy, was admitted to our department, because of right lower lobe pneumonia with a moderate amount of pleural effusion. He was treated with IV Cefuroxime resulting in a good clinical response.

A Case of Infective Endocarditis and Pulmonary Septic Emboli Caused by .

Infective endocarditis is a rare condition in children with normal hearts. We present here a case of previously healthy eleven-year-old girl with infective endocarditis and pulmonary septic emboli caused by a very rare bacterial etiology (). Identification of this pathogen was only made by polymerase chain reaction.

Foreign Body Aspiration in Children with Focus on the Role of Flexible Bronchoscopy: A 5 Year Experience.

Background: Foreign body aspiration (FBA) is common in the pediatric population and if not diagnosed and treated properly can lead to major complications.

Objectives: To define the clinical and radiological features of aspirated foreign bodies, characterize the incidence of FBA among the Israeli-Arab population, and evaluate flexible bronchoscopy as a diagnostic tool prior to performing rigid bronchoscopy.

Methods: We reviewed the e-files of 115 children who underwent bronchoscopy for suspected FBA between January 2006 and December 2010 in the pediatric department of the St.