Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.

Schaaf-Yang syndrome (SYS) is an ultra-rare neurodevelopmental disorder caused by truncating mutations in Heterologous expression of wild-type (WT) or a truncated (p.Gln638*) C-terminal HA-tagged MAGEL2 revealed a shift from a primarily cytoplasmic to a more nuclear localisation for the truncated protein variant. We now extend this analysis to six additional SYS mutations on a N-terminal FLAG-tagged MAGEL2.

Resident Education Curriculum in Pediatric and Adolescent Gynecology: The Short Curriculum 4.0.

Exposure to pediatric and adolescent gynecology (PAG) varies across residency programs in obstetrics and gynecology, family medicine, and pediatrics, as well as both adolescent medicine and PAG fellowship programs. Nevertheless, these programs are responsible for training residents and fellows and providing opportunities to fulfill PAG learning objectives. To that end, the North American Society for Pediatric and Adolescent Gynecology has taken a leadership role in PAG trainee education by creating and maintaining this Short Curriculum.

Long Curriculum 3.0 in Resident Education: Comprehensive Curriculum in Pediatric and Adolescent Gynecology for Postgraduate Trainees in Obstetrics/Gynecology, Pediatrics, and Adolescent Medicine.

In 2015, the Resident Education Committee of the North American Society for Pediatric and Adolescent Gynecology published the Long Curriculum in Resident Education to provide educators with a comprehensive document to be used in postgraduate medical education. The original curriculum was designed to meet the resident learning objectives for the Council on Resident Education in Obstetrics and Gynecology, the American Board of Pediatrics, and the Royal College of Physicians and Surgeons of Canada and to provide a more intensive, broader learning experience. The curriculum was updated in 2018.

Influences on drinking choices among Indigenous and non-Indigenous pregnant women in Australia: A qualitative study.

Despite women's awareness that drinking alcohol in pregnancy can lead to lifelong disabilities in a child, it appears that an awareness alone does not discourage some pregnant women from drinking. To explore influences on pregnant women's choices around alcohol use, we conducted interviews and group discussions with 14 Indigenous Australian and 14 non-Indigenous pregnant women attending antenatal care in a range of socioeconomic settings. Inductive content analysis identified five main influences on pregnant women's alcohol use: the level and detail of women's understanding of harm; women's information sources on alcohol use in pregnancy; how this information influenced their choices; how women conceptualised their pregnancy; and whether the social and cultural environment supported abstinence.

Where Have the Periods Gone? The Evaluation and Management of Functional Hypothalamic Amenorrhea.

Functional hypothalamic amenorrhea (FHA) is a common cause of amenorrhea in adolescent girls. It is often seen in the setting of stress, weight loss, or excessive exercise. FHA is a diagnosis of exclusion.

Adaptive response of neonatal sepsis-derived Group B Streptococcus to bilirubin.

Hyperbilirubinemia is so common in newborns as to be termed physiological. The most common bacteria involved in early-onset neonatal sepsis are Streptococcus agalactiae, commonly called Group B Streptococcus (GBS). Whilst previous studies show bilirubin has antioxidant properties and is beneficial in endotoxic shock, little thought has been given to whether bilirubin might have antibacterial properties.