Anatomical Variations of the External Genitalia in Posterior Cloaca: Clinical Consequences of Misdiagnosis-A Systematic Review of the Literature and the ARM-Net Consortium Experience.

Purpose:  All types of cloacal malformations may be associated with anatomic variations of the external genitalia, including hypoplasia of the labia minora and enlarged clitoris; these variations could be even higher in posterior cloacas (PCs). If a careful physical examination is not performed, patients may be misdiagnosed with ambiguous genitalia (AG), leading to subsequent unnecessary testing, surgeries, or even wrong gender assignment. The aim was to analyze data of patients with PC within the ARM-Net registry, focusing on the description of the genitalia, gender assignment, and its consequences.

CD371-positive pediatric B-cell acute lymphoblastic leukemia: propensity to lineage switch and slow early response to treatment.

In the effort to improve immunophenotyping and minimal residual disease (MRD) assessment in acute lymphoblastic leukemia (ALL), the international Berlin-Frankfurt-Münster (iBFM) Flow Network introduced the myelomonocytic marker CD371 for a large prospective characterization with a long follow-up. In the present study, we aimed to investigate the clinical and biological features of CD371-positive (CD371pos) pediatric B-cell precursor ALL (BCP-ALL). From June 2014 to February 2017, 1812 pediatric patients with newly diagnosed BCP-ALLs enrolled in trial AIEOP-BFM ALL 2009 were evaluated as part of either a screening (n = 843, Italian centers) or validation cohort (n = 969, other iBFM centers).

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with cancer or a positive family history underwent oncogenetic testing with a panel of 51 recurring PVs at a tertiary medical center in March 2020-January 2023.

Management of first branchial anomalies in children: 20 years of experience.

Purpose: Branchial cleft anomalies (BCAs) are common pediatric head and neck lesions; however, only 1-4% involve the first branchial cleft. The rare occurrence of first BCAs, their presentation at a young age, and the possible facial nerve involvement make diagnosis and treatment challenging.

Methods: A retrospective chart review was conducted for children diagnosed with their first BCA between 2000 and 2020.

Opioid trends and risk factors for sustained use among children and adolescents in Israel: a retrospective cohort study.

Despite growing global concern over opioids, little is known about the epidemiology of opioid use in children and adolescents. This retrospective study investigated opioid use trends and identified risk factors associated with sustained opioid use among outpatient children and adolescents in Israel. Electronic health records of 110,955 children and adolescents were used to establish opioid purchase trends in outpatient settings between 2003 and 2021.

Patient-tailored platelet transfusion practices for children supported by extracorporeal membrane oxygenation.

Background And Objectives: Extracorporeal membrane oxygenation (ECMO) serves as cardiopulmonary therapy in critically ill patients with respiratory/heart failure and often necessitates multiple blood product transfusions. The administration of platelet transfusions during ECMO is triggered by the presence or risk of significant bleeding. Most paediatric ECMO programmes follow guidelines that recommend a platelet transfusion threshold of 80-100 × 10/L.

Risk Factors for Invasive Interventions in Hospitalized Children With Suppurative Cervical Lymphadenitis.

Suppurative cervical lymphadenitis sometimes resolves with oral antibiotic treatment; however, many children are hospitalized for intravenous treatment due to lack of improvement. When there is no substantial improvement, the possibility of a liquefaction process is considered, and as a result, source control such as needle aspiration or open surgical drainage is recommended. We examined, among pediatric patients hospitalized with suppurative cervical lymphadenitis, clinical and laboratory predictors for invasive intervention that may lead to early imaging and intervention, hasten recovery, and shorten length of hospitalization.

Thoracoscopic Resection of Pulmonary Lesions in Israel: The Mentorship Approach.

Background: Most congenital pulmonary airway malformations (CPAMs) are detected antenatally. The majority of newborns are asymptomatic. Patients are prone to subsequent respiratory complications and to a lesser extent malignant transformation remains concerning.

Gaps in pediatric oncologic end of life care as recounted by the bereaved parents in Isarel.

Purpose: This study investigated parents' perception of their needs and those of their children with cancer at the end-of-life period, including unmet needs and their expectations regarding providers.

Design And Methods: This cross-sectional study involved 26 parents recruited from three pediatric hematology-oncology wards in Israel who completed demographic and medical questionnaires of the child, and a parental needs questionnaire based on The Needs Assessment of Family Caregivers-Cancer questionnaire, following the death of their child.

Findings: Parents expressed needs related to medical care, including pain management, decision-making, and finding optimal treatment options for their children.

Adherence of patients with schizophrenia to hypothyroidism treatment.

Adherence to prescription medications is critical for both remission from schizophrenia and control of physical comorbidities. While schizophrenia with comorbid hypothyroidism is common, there is little research on adherence to hypothyroidism treatment in this population. The current study used a retrospective, matched case-control design.

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. However, disease-causing variants in known disease-associated genes only explain a proportion of cases.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

[EXAMINING THE ASSOCIATION BETWEEN THE FETAL SUPRATENTORIAL BRAIN VOLUME AND THE SUBARACHNOID SPACE IN VARIOUS FETAL PATHOLOGIES USING MAGNETIC RESONANCE IMAGING].

Introduction: The subarachnoid space (SAS) is a potential space surrounding the brain where the cerebrospinal fluid (CSF) flows. Previous work demonstrated how the SAS width changes during pregnancy and measured the normal values per gestational week.

Objectives: Studying the ratio between the fetal brain volume (STV) and the SAS width (SS ratio), as measured via fetal magnetic resonance imaging (MRI) in different fetal pathologies - macrocephaly and microcephaly, and studying the correlation between this ratio and the gestational week.

Clinical implications of extremely elevated C-reactive protein among febrile immunocompetent children.

Aim: To identify the various diagnoses associated with extremely elevated C-reactive protein (CRP) (>30 mg/dL) among immunocompetent children and to evaluate its clinical implications during emergency department (ED) workup and hospital management.

Methods: Children (3 months-18 years) with fever in ED were included, retrospectively. The cohort was divided into two groups-'extremely elevated CRP' (>30 mg/dL) and 'highly elevated CRP' (15-30 mg/dL).

Negative appendectomy rate in the pediatric population: can we reach near-zero rates? An observational study.

Introduction: Correct diagnosis of acute appendicitis may sometimes be challenging. The Negative appendectomy rate (NAR) has declined in the recent years in Europe and USA, in part due to better diagnostic imaging tools. The aim of this study was to examine the rates of negative appendectomy in our institution, investigate trends in its incidence, and identify possible predicting factors.

Psychopharmacology in children and adolescents: unmet needs and opportunities.

Psychopharmacological treatment is an important component of the multimodal intervention approach to treating mental health conditions in children and adolescents. Currently, there are many unmet needs but also opportunities, alongside possible risks to consider, regarding the pharmacological treatment of mental health conditions in children and adolescents. In this Position Paper, we highlight and address these unmet needs and opportunities, including the perspectives of clinicians and researchers from the European College of Neuropsychopharmacology-Child and Adolescent Network, alongside those of experts by lived experience from national and international associations, via a survey involving 644 participants from 13 countries, and of regulators, through representation from the European Medicines Agency.

Tape strips detect molecular alterations and cutaneous biomarkers in skin of patients with hidradenitis suppurativa.

Background: Hidradenitis suppurativa (HS) has a high unmet need for better treatments. Biopsies are considered the gold standard for studying molecular alterations in skin. A reproducible, minimally invasive approach is needed for longitudinal monitoring in trials and in pediatric populations.

Foreign body aspiration score (FOBAS)-a prospectively validated algorithm for the management and prediction of foreign body aspiration in children.

Unlabelled: Foreign body aspiration (FBA) is a common cause of pediatric morbidity, but a standardized protocol to guide decision-making about bronchoscopy is lacking. We aimed to validate a new Foreign body aspiration score (FOBAS) for the pediatric emergency department (ED). Patients aged 0-18 years referred to the ED for suspected FBA were prospectively enrolled.

Safety of Cidofovir Treatment for Suspected or Confirmed Adenovirus Infection in Immunocompetent Pediatric Population.

Background: Cidofovir (CDV), a nucleoside phosphonate analogue, exhibits activity against severe cytomegalovirus and adenoviral (ADV) infection. Nevertheless, reports of elevated nephrotoxicity rates limited its use to highly vulnerable cases, mainly immunocompromised children with fulminant infection. Limited data exists regarding CDV safety in immunocompetent children.

Clinical profile of re-hospitalizations in pediatric kidney and liver transplant recipients.

Background: Solid organ transplantation has evolved in recent decades, resulting in a rise in patient and graft survival. Frequent hospitalizations affect graft function, patients' health, and quality of life. This study characterizes the frequency and causes of post-transplant hospitalizations among pediatric recipients.

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.

Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis. Amelogenesis depends on multiple ameloblast-derived proteins that function as a scaffold for hydroxyapatite crystals. The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta.

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.

Primary hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening hyperinflammatory syndrome that develops mainly in patients with genetic disorders of lymphocyte cytotoxicity and X-linked lymphoproliferative syndromes. Previous studies with etoposide-based treatment followed by hematopoetic stem cell transplantation (HSCT) resulted in 5-year survival of 50% to 59%. Contemporary data are lacking.