Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.

Donor site morbidity of upper extremity flaps in head and neck reconstruction.

Objective: This retrospective cohort study aims to compare donor site morbidity of three commonly used upper extremity flaps used in head and neck reconstructive surgery: scapular tip free flap (STFF), radial forearm free flap (RFFF), and pectoralis major pedicled flap (PMPF).

Methods: The billing database of an urban, academic, tertiary otolaryngology practice was queried to identify patients who underwent STFF, RFFF, and PMPF from 2020 to 2023. The primary outcome was identification of donor site pain and need for physical therapy (PT) referral after undergoing reconstruction.

A randomized controlled trial of Native CHOICES: Impact on alcohol-exposed pregnancy risk reduction among American Indian and Alaska Native women.

Background: Prevention of alcohol-exposed pregnancy (AEP) involves reducing risky alcohol consumption among women at-risk for pregnancy, using effective contraception among women drinking at risky levels to prevent pregnancy, or both. This study presents the outcomes of a randomized controlled trial assessing the efficacy of Native CHOICES, a culturally tailored adaptation of the CHOICES intervention, among American Indian/Alaska Native (AI/AN) women.

Methods: AI/AN women aged 18-44 who were at-risk for an AEP were randomly assigned in a 1:1 ratio to either the Native CHOICES intervention or a waitlist control group.

Airway Management in Microvascular Reconstruction of the Head and Neck: Current Practice Patterns.

Objective: To identify current airway management practice patterns during free tissue transfer (FTT) reconstruction of head and neck defects.

Methods: A 27-question survey distributed to American Head and Neck Society (AHNS) members. Correlation between surgeon and patient variables with likelihood to perform tracheotomy and tracheotomy technique were evaluated.