Establishing trust is a foundational skill for healthcare providers who work with children, but there’s no formal training on how to do it. Now there’s a framework to help you.
Recommendations for the evaluation and management of andrological disorders during childhood and adolescence to transition age, including varicoceles, gynecomastia, and macroorchidism.
A woman with a history of neonatal hyperglycemia and a relatively uneventful childhood without treatment, experienced significant hyperglycemia and retinopathy in adulthood, but what was the cause of her diabetes?
Dyslipidemia in young people increases the risk for early development of atherosclerotic cardiovascular disease. Lifestyle modifications remain the cornerstone of treatment, but a growing number of lipid-lowering therapies are safe and effective.
A woman with a history of neonatal hyperglycemia and a relatively uneventful childhood without treatment, experienced significant hyperglycemia and retinopathy in adulthood, but what was the cause of her diabetes?
Nephrotic syndrome is usually caused by primary renal disorders, but you should consider metabolic diseases in atypical cases. This 7-month-old presented with nephrotic syndrome, malignant hypertension, and hemolytic anemia.
Familial chylomicronemia syndrome is a monogenic form of severe hypertriglyceridemia that increases the risk of pancreatitis. In this case, two brothers had familial chylomicronemia syndrome caused by rare GPIHBP1 deletions.
Gaucher disease (GD), one of the most common lysosomal storage diseases, results from biallelic variants in the GBA1 gene located on chromosome 1 (1q21), leading to a defective glucocerebrosidase protein (GCase). This lysosomal enzyme plays a …
Storage disorders are a group of inborn errors of metabolism caused by the defective activity of lysosomal enzymes or transporters. All of these disorders have multisystem involvement with variable degrees of neurological features. Neurological …
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.
Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA gene. It is classified into three main phenotypes according to the patient’s clinical presentation. Of these, chronic neuronopathic GD (GD3) is …
Refine the application of CGM technology in primary care to enhance the management of type 2 diabetes. Benefit from key updates and experiential learning using CGM devices, and practice your clinical decision-making skills.
Stay up to date with the rapidly changing CGM landscape. Learn how to implement and integrate CGM into diabetes management to improve patient care and outcomes.
Join Prof. Martin Savage and expert colleagues for this series of interviews exploring how to successfully implement precision medicine into the management of pediatric endocrine disorders.
Gaucher disease (GD) is a rare lysosomal storage disorder caused by biallelic mutations in the acid β-glucosidase ( GBA1 ) gene, which lead to reduced acid β-glucosidase activity with consequent accumulation of its primary substrate …
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lipid storage disease characterized in a majority of cases by progressive neurological deterioration leading to premature death, and (hepato)splenomegaly; its estimated …
Acid Sphingomyelinase Deficiency (ASMD; alternatively known as Niemann–Pick Disease Types A, B and A/B, OMID# 257,200 and 607,616) is an ultra-rare multisystem genetic disorder caused by pathogenic variants of the SMPD1 gene. Clinical features …
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease resulting from biallelic pathogenic variants in the SMPD1 gene encoding the lysosomal enzyme acid sphingomyelinase (ASM) [ 1 ]. ASMD presents a clinical …
