Rapid exome sequencing for children with severe acute encephalopathy - A case series.

Increasingly, next-generation sequencing (NGS) is becoming an invaluable tool in the diagnosis of unexplained acute neurological disorders, such as acute encephalopathy/encephalitis. Here, we describe a brief series of pediatric patients who presented at the pediatric intensive care unit with severe acute encephalopathy, initially suspected as infectious or inflammatory but subsequently diagnosed with a monogenic disorder. Rapid exome sequencing was performed during the initial hospitalization of three unrelated patients, and results were delivered within 7-21 days.

Six-Year Surveillance of Acquired Bloodstream Infection in a Pediatric Intensive Care Unit in Israel.

Objectives: We studied profile of the bloodstream infections (BSI) in the pediatric intensive care unit (PICU) and identified predictors of mortality.

Methods: The study collected data from hospital records for children younger than 18-years who developed BSI during their PICU stay between 2014 and 2019.

Results: In 114 patients, 136 PICU-acquired BSIs with 152 pathogens were documented.

Acute hemodialysis therapy in neonates with inborn errors of metabolism.

Background: Inborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, are characterized by systemic accumulation of toxic metabolites with deleterious effect on the developing brain. While hemodialysis (HD) is most efficient in clearing IEM-induced metabolic toxins, data regarding its use during the neonatal period is scarce.

Methods: We retrospectively summarize our experience with HD in 20 neonates with IEM-induced metabolic intoxication (seven with maple syrup urine disease, 13 with primary hyperammonia), over a 16-year period, between 2004 and 2020.

Same baby, different care: variations in practice between neonatologists and pediatric intensivists.

Unlabelled: The aim of the study was to identify and explore areas in neonatal care in which significant differences in clinical care exist, among neonatal intensive care (NICU) and pediatric intensive care (PICU) physicians. A questionnaire presenting three common scenarios in neonatal critical care-severe pneumonia, post-cardiac-surgery care, and congenital diaphragmatic hernia (CDH) was electronically sent to all PICU and NICU physicians in Israel. The survey was completed by 110 physicians.

Survival of pediatric patients requiring admission in the intensive care unit post hematopoietic stem cell transplantation: Prognostic factors associated with mortality.

Background: Although hematopoietic stem cell transplantation (HSCT) is the only curative option for some children with malignant and nonmalignant disorders, the procedure itself carries a high risk of complications. A proportion of children undergoing HSCT develop severe transplant-related complications requiring hospitalization in the pediatric intensive care unit (PICU).

Methods: A retrospective cohort study included 793 children with malignant and nonmalignant diseases that underwent 963 HSCTs in two large pediatric hospitals over 15 years.

Methylene Blue Administration for Distributive Shock States in Critically Ill Children.

Background: Methylene blue (MB), an inhibitor of nitric oxide synthesis and its effects is a potentially effective treatment against distributive shock states such as septic shock and vasoplegic syndrome. MB has been shown to alleviate vasoplegia and promote an increase in blood pressure. It may reduce mortality.

Pediatric Inflammatory Multisystem Syndrome With Central Nervous System Involvement and Hypocomplementemia Following SARS-COV-2 Infection.

Pediatric inflammatory multisystem syndromes associated with Severe Acute Respiratory Syndrome Coronavirus 2 are emerging in recent reports. We describe a patient with critical illness consistent with atypical Kawasaki disease with cardiac dysfunction and abdominal involvement presenting weeks after Severe Acute Respiratory Syndrome Coronavirus 2 infection. Our patient showed unique central nervous system involvement with small vessel vasculitis and profound hypocomplementemia, both not previously reported in case descriptions and may hint at possible disease mechanisms.

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.

Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This leads to decreased reactive oxygen species (ROS) production, which renders patients susceptible to life-threatening infections. Over the course of 30 years, we diagnosed CGD in 84 patients from 61 families using functional, molecular, and genetic studies.

Methylene blue treatment for resistant shock following renal transplantation.

We report a case of a 19-year-old female with a history of hyperoxaluria type 1 and renal failure. The patient presented for a second renal transplantation 17 years after her first combined liver and kidney transplantation. Postoperative shock was highly resistant to fluids and required massive pharmacologic hemodynamic support.

Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

Background And Purpose: Autosomal dominant Hyper IgE syndrome (AD-HIES) is a rare and complex primary immunodeficiency that affects multiple systems. Mutations in signal transducer and activator of transcription 3 (STAT3) gene cause AD-HIES. These mutations have a dominant-negative effect and the presence of such mutations is associated with a clinical phenotype.

Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency.

A 14-month-old female infant presented with recurrent episodes of acute gastroenteritis accompanied by severe metabolic acidosis and hypoglycemia. Physical examination showed hepatomegaly. Laboratory evaluation revealed elevated hepatic enzymes, prolonged prothrombin time, hyperuricemia, and extremely elevated lactate and alanine levels.

The interpretation of color - an endocrine cause of skin discoloration mimicking cyanosis.

Primary adrenal insufficiency, or Addison's disease, is very rare in the pediatric population. The diagnosis of Addison's disease is usually suspected in the presence of hyponatremia and hyperkalemia, or when adrenal crisis develops. Pediatricians often are unaware of other presenting symptoms of the disease.

Octreotide-induced hepatitis in a child with persistent hyperinsulinemia hypoglycemia of infancy.

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), the most common cause of persistent hypoglycemia in the neonatal period and infancy, is a genetic disorder characterized by abnormal regulation of insulin secretion. Octreotide, a somatostatin analog, is often used as a second-line treatment when diazoxide therapy fails to control hypoglycemia. We report herein a rare development of octreotide-induced hepatitis following prolonged treatment for PHHI in an infant.

Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression.

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency characterized by the absence or malfunction of the NADPH oxidase in phagocytic cells. As a result, there is an impaired ability to generate superoxide anions and the subsequent reactive oxygen intermediates. Consequently, CGD patients suffer from two clinical manifestations: recurrent, life-threatening bacterial and fungal infections and excessive inflammatory reactions leading to granulomatous lesions.

Vocal fold paralysis in infants with tracheoesophageal fistula.

Objectives: We describe the clinical characteristics and management of vocal fold paralysis in infants who were born with a tracheoesophageal fistula (TEF).

Methods: This retrospective case series included all infants born with TEFs who presented to our pediatric otolaryngology unit and intensive care unit because of dyspnea or aphonia in the years 2005 and 2006, and who were found to have vocal fold paralysis.

Results: Five boys and 1 girl were studied.

Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.

Chronic granulomatous disease (CGD) is an innate immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. In the course of 21 years, 38 Israeli CGD patients were diagnosed with 17 gene mutations, seven of which were new. Clinical, functional, and molecular studies were accomplished.

Lessons learned from chlorine intoxications in swimming pools: the challenge of pediatric mass toxicological events.

Introduction: The classical doctrine of mass toxicological events provides general guidelines for the management of a wide range of "chemical" events. The guidelines include provisions for the: (1) protection of medical staff with personal protective equipment; (2) simple triage of casualties; (3) airway protection and early intubation; (4) undressing and decontamination at the hospital gates; and (5) medical treatment with antidotes, as necessary. A number of toxicological incidents in Israel during the summer of 2005 involved chlorine exposure in swimming pools.

Synchronous airway lesions in laryngomalacia.

Objective: Laryngomalacia is the most common cause of congenital stridor. Laryngomalacia may be associated with other structural and functional airway lesions. While previous studies suggested a 10-45% rate of synchronous airway lesions (SALs), the exact rate and it's clinical significance is unknown.

Diagnosis of laryngomalacia by fiberoptic endoscopy: awake compared with anesthesia-aided technique.

Rationale: Fiberoptic flexible laryngoscopy (FFL) is the diagnostic procedure of choice in patients with laryngomalacia. Two techniques can be applied, either when the infant is awake or using anesthesia/sedation. The choice of technique may effect the diagnosis.

Oral amphotericin B for the prevention of Candida bloodstream infection in critically ill children.

Objectives: To determine the efficacy of oral amphotericin B for the prevention of Candida bloodstream infection in the pediatric intensive care unit.

Design: Retrospective, nonrandomized, historic-control study.

Setting: Multidisciplinary pediatric intensive care unit at a university-affiliated children's medical center.

Life-threatening airway obstruction secondary to mass in children-a preventable event?

Objectives: To investigate the management of children with life-threatening airway obstruction from large mediastinal masses.

Methods: Review of the medical records of children with mediastinal masses and severe airway obstruction who were admitted to a multidisciplinary pediatric intensive care unit.

Results: Eight patients with 12 life-threatening events were identified.

Blood transfusion policy among European pediatric intensive care physicians.

The objective of this study was to define current blood transfusion practices among European pediatric intensive care physicians treating critically ill children. A questionnaire of case scenarios was administered to members of the European Society of Pediatric and Neonatal Intensive Care (ESPNIC). Of the 258 members of the ESPNIC, 134 (51.

Use of the NOW Streptococcus pneumoniae urinary antigen test in cerebrospinal fluid for rapid diagnosis of pneumococcal meningitis.

Streptococcus pneumoniae is one of the most common pathogens in bacterial meningitis. Rapid diagnosis is critical for effective treatment. The aim of this study was to assess the accuracy of the NOW S.