Multisystem involvement in Turner syndrome makes the transition from pediatric to adult care very challenging. Explore guidance on all aspects of transition and referral.
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.
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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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.
A series of pediatric cases providing insight into the atypical presentations of primary acquired hypothyroidism, including musculoskeletal, hepatobiliary, gynecological and hematological manifestations.
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 …
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.
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 …
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 …
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 …
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 …
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 …
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 …