Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor Cerebri.

Pseudotumor cerebri (PTC) in children is a rare condition whose underlying cause remains largely unknown. No study has yet systematically examined viral infection as a cause of PTC. The current study aimed to characterize PTC in children and investigate the possible role of acute viral infection of the central nervous system in its pathogenesis.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

Background And Purpose: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation.

Materials And Methods: This is a multicenter, international, retrospective study.

Correlation Between the Nancy Histopathology Index and Markers of Disease Activity in Pediatric Ulcerative Colitis.

The Nancy Histological Index (NHI) was developed to assess histological disease activity in adult ulcerative colitis (UC) patients. However, data in pediatrics is limited. Our aim was to determine whether the NHI correlates with different indices of disease activity in pediatric UC patients.

Compromised Adult Height in Females with Non-Classical Congenital Adrenal Hyperplasia Diagnosed in Childhood.

Introduction: Data on adult height (AHt) in individuals with non-classical congenital adrenal hyperplasia (NCCAH) are inconsistent.

Methods: We conducted a retrospective study of 109 females diagnosed with NCCAH at age <18 years who reached AHt. We studied AHt compared to target height (THt) and the correlation of AHt with clinical parameters.

Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.

Background And Objectives: Stroke-like episodes (SLEs) in patients with MELAS syndrome are often initially misdiagnosed as acute ischemic stroke (AIS), resulting in treatment delay. We aimed to determine clinical features that may distinguish SLEs from AISs and explore the benefit of early L-arginine treatment on patient outcomes.

Methods: We looked retrospectively for MELAS patients admitted between January 2005 and January 2022 and compared them to an AIS cohort with similar lesion topography.

Infertility and Pregnancy Rates in Female Thyroid Cancer Survivors: A Retrospective Cohort Study Using Health Care Administrative Data from Israel.

Thyroid cancer (TC) is one of the most common carcinomas in young women. Concerns have been raised regarding the impact of the disease and its treatment on reproductive function. The aim of the study was to investigate the association of TC diagnosis and radioactive iodine (RAI) treatment on infertility and pregnancy rates in women.

Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly.

Objectives: To evaluate the theoretical added value of two types of non-invasive prenatal screening (NIPS) expansions in pregnancies without major structural anomalies over the commonly used NIPS for chromosomes 13, 18, 21, X and Y (5-NIPS) and to compare them with the added value of chromosomal microarray analysis (CMA).

Methods: This was a retrospective cohort study based on CMA results of all pregnancies with normal ultrasound (including pregnancies with soft markers and with abnormal maternal serum screening) that had undergone amniocentesis between January 2013 to February 2022 and were registered in the database of the Rabin Medical Center genetic laboratory. We calculated the theoretical yield of 5-NIPS and compared the added value of expanded 5-NIPS for common microdeletions (1p36.

Prospective Validation of the Lémann Index in Children: A Report From the Multicentre Image Kids Study.

Background: The Lémann Index [LI] and the recently updated LI are tools for measuring structural bowel damage in adults with Crohn's disease [CD] but have not been evaluated in children. We aimed to validate the updated LI in the prospective multicentre ImageKids study of paediatric CD.

Methods: We included children with CD undergoing magnetic resonance enterography [MRE], pelvic magnetic resonance imaging [MRI] and ileocolonoscopy.

ESPEN guideline on Clinical Nutrition in inflammatory bowel disease.

The present guideline is an update and extension of the ESPEN scientific guideline on Clinical Nutrition in Inflammatory Bowel Disease published first in 2017. The guideline has been rearranged according to the ESPEN practical guideline on Clinical Nutrition in Inflammatory Bowel Disease published in 2020. All recommendations have been checked and, if needed, revised based on new literature, before they underwent the ESPEN consensus procedure.

Point-of-Care Ultrasound for the Diagnosis of Pediatric Testicular Torsion: A Retrospective Case Series Analysis.

Objectives: Acute testicular torsion is a surgical emergency that warrants prompt treatment. The diagnosis is typically confirmed by ultrasonography interpreted by a radiologist (RADUS); however, in this study, we describe the clinical course of 23 patients for whom point-of-care ultrasound (POCUS) was performed by pediatric emergency medicine physicians during the initial assessment for testicular torsion in the pediatric emergency department (PED).

Methods: A retrospective case series analysis of patients aged 0 to 18 years who were diagnosed with acute testicular torsion after undergoing scrotal POCUS through our PED.

Dialysis in Israeli Children between 1990 and 2020: Trends and International Comparisons.

Background: Childhood kidney failure is a rare condition with worldwide clinical variability. We used a nationwide multicenter analysis to study the pretransplant course of the entire Israeli pediatric kidney failure population over 30 years.

Methods: In this nationwide, population-based, historical cohort study, we analyzed medical and demographic data of all children treated with KRT and reported to the Israeli kidney failure registry in 1990-2020.

[GENETIC PANELS FOR THE DIAGNOSIS OF RARE CONGENITAL HEMATOLOGICAL DISORDERS].

Genetic diagnosis of congenital hematological disorders is complicated by the overlap of the clinical and laboratory presentation across different diseases and the large number of genes involved in each syndrome. Nonetheless, an accurate genetic diagnosis is essential for directing the follow-up and treatment program of the patients, as well as for identifying asymptomatic family members, choosing a non-affected related donor for hematopoietic stem cell transplantation and for offering a prenatal diagnosis. In recent years, a novel method of targeted next generation sequencing using gene panels was developed.

[DEMOGRAPHIC, CLINICAL AND LABORATORY CHARACTERISTICS OF CHILDREN DIAGNOSED WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH) IN THE SCHNEIDER CHILDREN'S MEDICAL CENTER BETWEEN 2004-2020].

Aims: To characterize the clinical, demographic, laboratory, and molecular biologic findings in children with HLH diagnosed and treated in our center.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare immuno-hematologic disorder more common in children than adults. It is divided into two separate conditions which are not always easy to differentiate: familial/primary HLH (FHL) and acquired/secondary HLH associated with malignant, infectious, and other inflammatory conditions.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.

Promoting oral and dental health in early childhood - knowledge, views and current practices among paediatricians in Israel.

Unlabelled: Early childhood dental caries is the most prevalent disease in childhood. Paediatricians are considered by parents as the main authority on prevention and treatment of all the health requirements of their infants.

Aim: The aim of this study was to evaluate the knowledge and practice of paediatricians in promoting oral and dental health among young patients (under age 36 months) and their parents.