Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Purpose: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a Variant Outside of the Canonical HX-Motif of ATN1.

We present a case of a 4-year-old female with a de novo heterozygous variant in the ATN1 gene. The whole exome sequencing was performed on the patient and her parents, and a likely pathogenic, de novo variant was identified in exon 5 of the ATN1 gene. There are two well-documented conditions associated with the ATN1 gene: congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome and dentatorubral-pallidoluysian atrophy (DRPLA).

Descriptive Analysis of Orthopaedic Surgery Residency Program Directors.

The purpose of this study was to analyze the demographics and backgrounds of U.S. orthopaedic surgery residency program directors (PDs).

Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.

NDUFAF5 encodes a Complex I assembly factor which is critical to the modification of a core subunit, NDUFS7, in early Complex I factor assembly. Mutations in NDUFAF5 have been previously shown to cause Complex I deficiency leading to mitochondrial respiratory chain impairment. More than 15 individuals affected by variants in NDUFAF5 have been described; however, there is phenotypic heterogeneity within this cohort.

Efficacy of a student-led community contact tracing program partnered with an academic medical center during the coronavirus disease 2019 pandemic.

Purpose: Contact tracing has proven successful at controlling coronavirus 2019 (COVID-19) globally, and the Center for Health Security has recommended that the United States add 100,000 contact tracers to the current workforce.

Methods: To address gaps in local contact tracing, health professional students partnered with their academic institution to conduct contact tracing for all COVID-19 cases diagnosed onsite, which included identifying and reaching their contacts, educating participants, and providing social resources to support effective quarantine and isolation.

Results: From March 24 to May 28, 536 laboratory-confirmed COVID-19 cases were contacted and reported an average of 2.

Implementation and Process of a COVID-19 Contact Tracing Initiative: Leveraging Health Professional Students to Extend the Workforce During a Pandemic.

Background: The Centers for Disease Control and Prevention recommends aggressive contact tracing to control the COVID-19 pandemic. In this work, we (1) describe the development of a COVID-19 contact tracing initiative that includes medical, nursing, and public health students, and is led by clinicians and infectious disease epidemiologists within our health system, and, (2) articulate process steps for contact tracing including workflows and telephone scripts, and, (3) highlight the key challenges and strategies to overcome these challenges.

Methods: A single academic institution-based contact tracing initiative was rapidly scaled to 110 health professional students, four physicians, two epidemiologists, and a research team.

Mode of first delivery and postpartum weight retention at 1 year.

Background: The prevalence of obesity in the US has increased markedly in women in their reproductive years over the past 3 decades, partially due to higher rates of postpartum weight retention. This was a prospective cohort study that investigated mode of delivery as an independent risk factor for postpartum weight retention at 1 year postpartum.

Methods: Data from 2500 first-time mothers, aged 18-35 with singleton pregnancies were included in this analysis.