SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

SCY1-like protein 2 (SCYL2) is a member of the SCY1-like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction.

A Summary of Female Genital Mutilation/Cutting for the Pediatric and Adolescent Care Provider.

The World Health Organization defines female genital mutilation/cutting as any medically unnecessary procedure involving partial or total removal of the external female genitalia or other injury to the female genital organs. It is a violation of human rights and associated with serious complications and lifelong impact on health. This review article summarizes for the pediatric and adolescent care provider the incidence worldwide, the impact of cultural practices, appropriate screening and diagnosis, interventions, and treatment, along with legal and ethical issues.

Drug-Induced Liver Injury Secondary to Enobosarm: A Selective Androgen Receptor Modulator.

Selective androgen receptor modulators (SARMs) are compounds that bind to androgen receptors and have similar anabolic properties to anabolic steroids. Unlike anabolic steroids, which bind to androgen receptors in many tissues all over the body, individual SARMs selectively bind androgen receptors in certain tissues, but not in others. This selectivity has attracted researchers due to the possibility of using SARMs for the potential benefits of androgen receptor stimulation, such as increased muscle mass and increased bone density, while minimizing the adverse effects, such as erythrocytosis and hepatotoxicity.

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.

Purpose: Reports have questioned the dogma of exclusive maternal transmission of human mitochondrial DNA (mtDNA), including the recent report of an admixture of two mtDNA haplogroups in individuals from three multigeneration families. This was interpreted as being consistent with biparental transmission of mtDNA in an autosomal dominant-like mode. The authenticity and frequency of these findings are debated.

Where on the Differential Is Eisenmenger Syndrome in a Patient Without Prior Cardiopulmonary Disease?

Pulmonary hypertension (PH) can occur in patients with undiagnosed congenital heart disease, like atrial septal defects (ASDs), causing chronic left-to-right shunting. This may ultimately result in Eisenmenger physiology or syndrome (ES), a reversal of left-to-right shunting, resulting in a right-to-left shunt, thereby causing deoxygenated blood to enter systemic circulation as it bypasses the lungs. Development of PH due to an ASD is uncommon, and the occurrence of ES is <1% as most ASDs are corrected early in life.