Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected.

An "out of the box" approach for prevention of ketoacidosis in youth with poorly controlled type 1 diabetes: combined use of insulin pump and long-acting insulin.

Background: Poorly controlled adolescents living with type 1 diabetes (T1D) and pump failure of insulin delivery leading to diabetic ketoacidosis (DKA) are still challenging in the western world.

Aim: To investigate the effect of a combination modality of long-acting insulin for basal coverage and a pump for boluses, on the incidence of DKA and glycemic parameters in pediatric and young adults with poorly controlled T1D.

Methods: This multicenter, observational retrospective study included 55 patients (age range 3-25 years, 52.

Expert Panel Recommendations for a Standardized Ambulatory Glucose Profile Report for Connected Insulin Pens.

: Connected insulin pens capture data on insulin dosing/timing and can integrate with continuous glucose monitoring (CGM) devices with essential insulin and glucose metrics combined into a single platform. Standardization of connected insulin pen reports is desirable to enhance clinical utility with a single report. : An international expert panel was convened to develop a standardized connected insulin pen report incorporating insulin and glucose metrics into a single report containing clinically useful information.

Nondisclosure of Type 1 Diabetes in Adolescence: A Single-Center Experience.

Objective: The aim of this study was to assess the extent of nondisclosure of type 1 diabetes in adolescents and investigate its association with several psychosocial parameters and clinical outcomes.

Research Design And Methods: This was a cross-sectional study based on data collected from 69 adolescents with type 1 diabetes who were 12-18 years of age and followed at our diabetes clinic. The degree of disclosure, demographics, diabetes management, and psychosocial issues were assessed via questionnaires.

Towards the standardisation of adult person-reported outcome domains in diabetes research: A Consensus Statement development panel.

Diabetes is unique among chronic diseases because clinical outcomes are intimately tied to how the person living with diabetes reacts to and implements treatment recommendations. It is further characterised by widespread social stigma, judgement and paternalism. This physical, social and psychological burden collectively influences self-management behaviours.

Heated humidified high-flow nasal cannula: a new conservative approach for neonatal nasal stenosis.

Purpose: The aim of this study is to evaluate the efficacy of heated humidified high flow nasal cannula (HFNC) therapy as a conservative treatment option for newborns suffering from nasal stenosis, a condition that often leads to respiratory distress and feeding difficulties. Given the increasing utilization of HFNC in various upper and lower respiratory tract indications, characterized by its flow-based mechanism and minimal mucosal damage, we seek to investigate its potential benefits in this specific patient population.

Methods: A retrospective chart review of newborns with congenital nasal stenosis treated with HFNC for respiratory distress or feeding difficulties in a pediatric tertiary center between 2014 and 2022.

Early Non-Surgical Treatment For Microtia Types 1 and 2.

Esthetic concerns and psychosocial distress often accompany auricular deformities and malformations in both children and their parents. Approximately 30% of newborns are affected by auricular anomalies, with 15% to 20% resulting in permanent defects. While surgical intervention is typically considered the gold standard for malformations, a non-surgical approach, such as splinting, molding, or other non-invasive techniques, can effectively address deformations if promptly administered by a specialist.

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Background: Biological similarities between inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) have been described in humans and animal models suggesting a possible common genetic basis. FMF is caused by variants in the MEFV gene which encodes pyrin, an immune regulator. This study aimed to investigate the carrier rate of disease-causing MEFV variants in children of different ethnicities diagnosed with very-early-onset IBD (VEO-IBD).

Integrative Medicine Across the Pediatric Cancer Care Trajectory: A Narrative Review.

Purpose Of The Review: Children and adolescents with cancer, along with their parents and other informal caregivers, often report using complementary and alternative medicine (CAM) during active oncology and hemato-oncology treatment. Some adopt an "alternative" approach to conventional medical care, which often entails the use of these practices without the knowledge of the treating pediatrician. In contrast, many others search for consultation provided by a pediatric integrative oncology (IO) practitioner working with the conventional medical team.

World Allergy Organization (WAO) Diagnosis and Rationale for Action against Cow's Milk Allergy (DRACMA) guideline update - XII - Recommendations on milk formula supplements with and without probiotics for infants and toddlers with CMA.

Background: Cow's milk allergy (CMA) is the most common food allergy in infants. The replacement with specialized formulas is an established clinical approach to ensure adequate growth and minimize the risk of severe allergic reactions when breastfeeding is not possible. Still, given the availability of multiple options, such as extensively hydrolyzed cow's milk protein formula (eHF-CM), amino acid formula (AAF), hydrolyzed rice formula (HRF) and soy formulas (SF), there is some uncertainty as to the most suitable choice with respect to health outcomes.

Neurologic complications of thiamine (B1) deficiency following bariatric surgery in adolescents.

Background: The prevalence of obesity among children and adolescents is rising and poses a major health concern. Bariatric surgery is well established in adults and has become an option for adolescents. Thiamine (B1) deficiency is common following bariatric surgery in adults.

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care.

Identifying causes and associated factors of stillbirths using autopsy of the fetus and placenta.

Purpose: The study aimed to evaluate the causes of death and associated factors in cases of stillbirth, using post-mortem examination and applying a rigorous, evidence-based holistic approach.

Methods: Our retrospective observational study included cases of autopsy following stillbirth that occurred at our tertiary medical center during a period of 8 years. Detailed up-to-date criteria that incorporate clinical reports, medical history, prenatal imaging, and histopathological findings were used to evaluate the cause of death and associated factors.

The Diagnostic Yield of Chromosomal Microarray Analysis in Third-Trimester Fetal Abnormalities.

Objective:  This study aimed to determine the diagnostic yield of chromosomal microarray analysis (CMA) performed in cases of fetal abnormalities detected during the third trimester of pregnancy.

Study Design:  A retrospective review of medical records was conducted for women who underwent amniocentesis at or beyond 28 weeks of gestation between January 2017 and February 2023. CMA results of pregnancies with abnormal sonographic findings not detected before 28 weeks were included.

Biologic and small-molecule therapy for treating moderate to severe atopic dermatitis: Mechanistic considerations.

Atopic dermatitis (AD) is a complex and heterogeneous skin disease for which achieving complete clinical clearance for most patients has proven challenging through single cytokine inhibition. Current studies integrate biomarkers and evaluate their role in AD, aiming to advance our understanding of the diverse molecular profiles implicated. Although traditionally characterized as a T2-driven disease, extensive research has recently revealed the involvement of T1, T17, and T22 immune pathways as well as the interplay of pivotal immune molecules, such as OX40, OX40 ligand (OX40L), thymic stromal lymphopoietin, and IL-33.

Wearing face masks while climbing stairs influences respiratory physiology.

During the COVID-19 pandemic wearing face masks was mandatory. Nowadays, face masks are still encouraged indoors, especially in hospitals. People climbing stairs with masks describe unpredictable dyspnea.

Isolated Hydronephrosis and Urinary Tract Infection by Two Years of Age: A Population-Based Study.

Objective: To evaluate the risk for urinary tract infection (UTI) in infants with isolated hydronephrosis (IH).

Study Design: A retrospective, population-based study including all infants insured by Clalit Health Services and followed from birth to age 2 years in 3 regions of central Israel. Infants were divided into 3 groups based on electronic medical record diagnoses by age 6 months: (1) control: no urological diagnosis; (2) IH; and (3) complicated urological diagnosis (CUD): any additional nephrological/urological diagnosis with/without HN.

Symptomatic corpus luteum hemorrhage in adolescent females with ITP.

Patients with immune thrombocytopenia (ITP) usually present with minor mucocutaneous bleeding. Corpus luteum hemorrhage (CLH) is generally asymptomatic but may, rarely, lead to severe intraperitoneal bleeding, mostly in patients with coagulation disorders. CLH causing intraperitoneal bleeding has only been described in few individuals with ITP.

Continuous glucose monitoring and intrapersonal variability in fasting glucose.

Plasma fasting glucose (FG) levels play a pivotal role in the diagnosis of prediabetes and diabetes worldwide. Here we investigated FG values using continuous glucose monitoring (CGM) devices in nondiabetic adults aged 40-70 years. FG was measured during 59,565 morning windows of 8,315 individuals (7.

A pilot study exploring the use of hyaluronic acid in treating insertional achilles tendinopathy.

Purpose: This study explores the use of ultrasound-guided Hyaluronic Acid (HA) injections for Insertional Achilles Tendinopathy (IAT).

Methods: A cohort of 15 ankles diagnosed with IAT received three weekly ultrasound-guided HA injections. The Victorian Institute of Sport Assessment - Achilles (VISA-A) questionnaire scored the severity of symptoms and functional impairment before treatment, and at one and six months post-treatment.