A recent study conducted by the Childhood Liver Disease Research Network has found a high prevalence of severe sarcopenia in school-aged children with genetic intrahepatic cholestasis, particularly in those with chronic intrahepatic cholestasis...

A comprehensive study on RP2-associated retinopathy found a diverse range of manifestations in female carriers of the RP2 gene, including exhibiting subtle characteristics such as tapetal-like reflex and pigmentary changes, a significant finding...

In a recent video, Dr. Ellen Elias, a clinical geneticist specializing in neurodevelopmental disabilities and pediatrics provides a detailed exploration of Smith-Lemli-Opitz Syndrome (SLOS), covering its discovery, clinical manifestations, biochemical basis, diagnosis, management,...

Primary hyperoxaluria (PH) encompasses a group of rare genetic disorders marked by the overproduction of oxalate, leading to severe complications such as end-stage renal disease (ESRD). Among the various types, Primary Hyperoxaluria-1 (PH1)...

A retrospective audit on patients with Graves' disease undergoing radioactive iodine (RAI) treatment revealed a lower incidence of Graves' orbitopathy (GO) than previously observed. The study emphasized the importance of assessing patients for...

Stereotactic ablative radiation therapy (SABR) shows promise in treating extracranial sarcoma metastases, according to a study that suggests that age and the distinction between lung and non-lung metastases are important prognostic factors for...