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Pediatrics Growth and Development

Growth and Development

Open Access Turner's Syndrome Review

Turner syndrome: improving the transition from pediatric to adult care

Multisystem involvement in Turner syndrome makes the transition from pediatric to adult care very challenging. Explore guidance on all aspects of transition and referral.

Editor's Choice

Overnight bracing prevents curve progression in adolescent scoliosis

Overnight bracing could be an alternative intervention in patients with moderate-grade adolescent idiopathic scoliosis who refuse full-time bracing.

How does ECMO affect brain development?

ECMO significantly improves survival rates in severely ill neonates, but is associated with long-term neurodevelopmental issues. Explore the incidence of and risk factors for motor deficits, cognitive impairments, sensory impairments, and developmental delays.

Safely transitioning patients in nephrology

Growing evidence shows that lack of readiness for the transition from pediatric to adult healthcare increases morbidity and mortality in patients with chronic kidney disease and reduces allograft survival in transplanted patients.

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Case Studies

Chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX

Open Access Metabolic Disease and Nutrition Case Study

A diagnosis of glycogen storage disease type IX is easy to overlook, but it should be considered in children presenting with unexplained hepatomegaly and elevated transaminase levels. Genetic analysis is vital for accurate diagnosis.

Atypical presentations of primary acquired hypothyroidism

Open Access Hypothyroidism Case Study

A series of pediatric cases providing insight into the atypical presentations of primary acquired hypothyroidism, including musculoskeletal, hepatobiliary, gynecological and hematological manifestations.

Current Reviews

Sleep-Dependent Memory Consolidation in Developmental Disabilities: Cognitive and Neural Factors Driving Heterogeneity Across Diagnoses

Decades of research have established the essential role of sleep in the long-term consolidation of new memories (i.e., sleep-dependent memory consolidation; see [ 1 – 3 ], showing that new information is more easily retrieved if encoding is …

Genetic forms of tauopathies: inherited causes and implications of Alzheimer’s disease-like TAU pathology in primary and secondary tauopathies

Open Access Alzheimer's Disease Review

Tauopathies are a heterogeneous group of neurologic diseases characterized by pathological axodendritic distribution, ectopic expression, and/or phosphorylation and aggregation of the microtubule-associated protein TAU, encoded by the gene MAPT.

Emerging Human Pluripotent Stem Cell-Based Human–Animal Brain Chimeras for Advancing Disease Modeling and Cell Therapy for Neurological Disorders

Human pluripotent stem cell (hPSC) models provide unprecedented opportunities to study human neurological disorders by recapitulating human-specific disease mechanisms. In particular, hPSC-based human–animal brain chimeras enable the study of …

Acute myeloid leukemia with rare recurring translocations—an overview of the entities included in the international consensus classification

Open Access Acute Myeloid Leukemia Review Article

Two different systems exist for subclassification of acute myeloid leukemia (AML); the World Health Organization (WHO) Classification and the International Consensus Classification (ICC) of myeloid malignancies. The two systems differ in their …

Further Reading

Neuropathological findings in Down syndrome, Alzheimer’s disease and control patients with and without SARS-COV-2: preliminary findings

Open Access Trisomy 21 Original Paper

The SARS-CoV-2 virus that led to COVID-19 is associated with significant and long-lasting neurologic symptoms in many patients, with an increased mortality risk for people with Alzheimer’s disease (AD) and/or Down syndrome (DS). However, few …

Direct embryonic biopsy with transcervical embryoscopy is an effective method for karyotyping and morphology assessment in miscarriages

Open Access Miscarriage Genetics

Miscarriage, according to the European Society of Human Reproduction (ESHRE), is defined as the spontaneous demise of pregnancy before 24 weeks of gestation [ 1 ]. Approximately 15–25% of all known pregnancies result in miscarriage, which mainly …

Outcomes of surgical revascularization for pediatric moyamoya disease and syndrome

Open Access Neurofibromatosis Type 1 Research

Pediatric arterial ischemic stroke has an annual incidence of 1.72:100,000 [ 1 ]. Though rare, these infarcts can have profound impacts on both the patients and the families responsible for caring for them. Previous research has found that …

Impact of the presence and number of chromosomal abnormalities on the clinical outcome in Waldenström Macroglobulinemia: a monocentric experience

Open Access Chromosomal Abnormality Research

The prognostic and predictive role of specific gene mutations in Waldenström Macroglobulinemia (WM) is well-ascertained whereas the clinical impact of chromosome aberrations is far less known. Recent work has provided initial evidence for an …