Caregivers' Perspectives on Supporting Sexual and Gender-Diverse Youth in Adolescent Relationship Abuse Prevention.

Adolescent relationship abuse (ARA) has significant sequelae and is more prevalent among sexual and gender-diverse youth (SGDY). Increased parental involvement and communication has been linked to decreased prevalence of ARA and associated health risks. Parents of SGDY may have unique needs and experiences regarding communicating with their children about ARA, yet little research has examined this area.

Do female and male chests feel the same? A comprehensive quantitative sensory analysis.

Introduction: There is growing interest in understanding chest sensory function due to the significant morbidity associated with impaired sensation following nerve injury. While the baseline quantitative sensory and pain thresholds in female and male patients have been studied in various other anatomic areas, there is little knowledge on quantitative sensation at the chest as well as the presence of possible gender differences. Therefore, this study aimed to conduct a comprehensive quantitative sensory analysis to determine if female and male chests feel the same.

Establishing a Microsurgical Practice in a Limited Resource African Setting: The Kapsowar Hospital Experience.

Background: Microsurgical technique is still not readily available in many low- and middle-income countries. Few works in the scholarly literature describe the establishment of microsurgical practice on the African continent, and there are virtually no descriptions of the financial aspects of free flap performance by locally staffed teams in sub-Saharan Africa. The Kapsowar Hospital is a hospital in rural Kenya with 2 plastic and reconstructive surgeons certified by the American Board of Plastic Surgery and has recently expanded clinical practice to include microsurgical procedures.

Targeted Reinnervation During Gender-Affirming Mastectomy and Restoration of Sensation.

Importance: During gender-affirming mastectomy, nerves are transected, resulting in sensory loss. Nerve preservation using targeted nipple-areola complex (NAC) reinnervation (TNR) may restore sensation.

Objective: To determine the quantitative and patient-reported sensory outcomes of TNR.

The Burden of Plastic Surgery in Rural Kenya: The Kapsowar Hospital Experience.

Purpose: Both governmental and nongovernmental training programs are expanding efforts to train the next generation of plastic surgeons who will work in low- and middle-income countries (LMICs). Sufficient training is dependent on acquiring the appropriate skillset for these contexts. Few studies have characterized the spectrum of practice of plastic surgeons in LMICs and their relative disparity.

Reconstruction trends in New York City: A multi-decade, multi-institutional experience before and after the implementation of the Breast Cancer Provider Discussion Law.

Introduction: The potential benefits of breast reconstruction for achieving greater patient satisfaction, wellbeing, and functional outcomes after mastectomy have been widely acknowledged. However, sociodemographic and economic disparities exist in accessing reconstruction. This study aimed to characterize the influence of various factors on access to reconstruction and investigate the impact of the Breast Cancer Provider Discussion Law (BCPDL), legislation that mandates patient education and referral to plastic surgery at the time of breast cancer diagnosis, on utilization of reconstructive services.

Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.

BACKGROUNDMitochondrial diseases belong to the group of inborn errors of metabolism (IEM), with a prevalence of 1 in 2,000-5,000 individuals. They are the most common form of IEM, but, despite advances in next-generation sequencing technologies, almost half of the patients are left genetically undiagnosed.METHODSWe investigated a cohort of 61 patients with defined mitochondrial disease to improve diagnostics, identify biomarkers, and correlate metabolic pathways to specific disease groups.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid (PL) metabolism.

The Pattern and Profile of Orofacial Clefts in Somaliland: A Review of 40 Consecutive Cleft Lip and Palate Surgical Camps.

Introduction: Somaliland is an autonomously run country that is not internationally recognized. As such, it has been largely excluded by global health development programs despite being the world's fourth poorest country. The purpose of this study was to provide the first known description of the pattern and clinical profile of patients with cleft lip and palate from this nation.

Cleft Lip and Palate Surgery at a Rural African Hospital: A 13-Year Experience From Western Kenya.

Introduction: Most studies on the treatment of cleft lip and palate (CLP) in low-income and middle-income countries have reported on the experience of urban centers or surgical mission trips to rural locations. There is a paucity of literature on the experience of local teams providing orofacial cleft surgery in rural Sub-Saharan Africa. This study reports the efficacy and cost-effectiveness of cleft surgery performed by an all-local team in rural Kenya.

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.

Isolated complex I (CI) deficiencies are a major cause of primary mitochondrial disease. A substantial proportion of CI deficiencies are believed to arise from defects in CI assembly factors (CIAFs) that are not part of the CI holoenzyme. The biochemistry of these CIAFs is poorly defined, making their role in CI assembly unclear, and confounding interpretation of potential disease-causing genetic variants.

Comparative Analysis of Recurrence-Free Survival and Mortality in Postmastectomy Patients: Insights From Multidecade, Multiinstitutional Propensity Score Matching.

Introduction: Disparities in postmastectomy reconstructive care are widely acknowledged. However, there is limited understanding regarding the impact of reconstructive services on cancer recurrence and breast cancer-related mortality. Therefore, this study aims to examine how patient-specific factors and breast reconstruction status influence recurrence-free survival and mortality rates in breast cancer patients.

Prospective Sensory Outcomes for Targeted Nipple Areola Complex Reinnervation (TNR) in Gender-Affirming Double Incision Mastectomy with Free Nipple Grafting.

Objective: This study analyses the anatomy and sensory outcomes of targeted nipple areola complex reinnervation (TNR) in gender-affirming double incision mastectomy with free nipple grafting (FNG).

Background: TNR is a novel technique to preserve and reconstruct intercostal nerves (ICN) to improve postoperative sensation. There is little evidence on relevant anatomy and outcomes.

Breast Cancer Incidence Among Asian American Women in New York City: Disparities in Screening and Presentation.

Background: Asian American (AsAm) women have some of the lowest rates of up-to-date breast cancer screening, and lack of disaggregated racial/ethnic data can mask disparities. We evaluated presentation patterns among AsAms at two hospitals with distinct communities: New York Presbyterian-Queens (NYPQ), in Flushing, Queens and Weill Cornell Medical Center (WCM), on the Upper East Side (UES) neighborhood of Manhattan.

Patients And Methods: Patients with newly diagnosed breast cancer between January 2019 and December 2022 were identified using a prospective database and clinical data collected.

D-to-E and T19V Variants of the pH-Low Insertion Peptide and Their Doxorubicin Conjugates Interact with Membrane at Higher pH Ranges Than WT.

To improve targeted cargo delivery to cancer cells, pH-Low Insertion Peptide (pHLIP) variants were developed to interact with the membrane at pH values higher than those of the WT. The Asp-to-Glu variants aim to increase side chain p without disturbing the sequence of protonations that underpin membrane insertion. The Thr19 variants represent efforts to perturb the critical Pro20 residue.

Social Determinants of Cancer Disparities.

Cancer is a major public health issue that is associated with significant morbidity and mortality across the globe. At its root, cancer represents a genetic aberration, but socioeconomic, environmental, and geographic factors contribute to different cancer outcomes for selected population subsets. The disparities in the delivery of healthcare affect all aspects of cancer management from early prevention to end-of-life care.

Genomic Strategies in Mitochondrial Diagnostics.

Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and genetic heterogeneity of mitochondrial diseases. There are now pathogenic variants in over 300 nuclear genes linked to human mitochondrial diseases. Nonetheless, diagnosing mitochondrial disease with a genetic outcome remains challenging.

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mitochondrial disease, leading to all possible inheritance patterns and further complicated by heteroplasmy of the multicopy mitochondrial genome. Technological advances, particularly next-generation sequencing, have driven a shift in diagnostic practice from 'biopsy first' to genome-wide analyses of blood and/or urine DNA.

Novel variants impair mitochondrial dynamics through divergent mechanisms.

Imbalances in mitochondrial and peroxisomal dynamics are associated with a spectrum of human neurological disorders. Mitochondrial and peroxisomal fission both involve dynamin-related protein 1 (DRP1) oligomerisation and membrane constriction, although the precise biophysical mechanisms by which distinct DRP1 variants affect the assembly and activity of different DRP1 domains remains largely unexplored. We analysed four unreported de novo heterozygous variants in the dynamin-1-like gene affecting different highly conserved DRP1 domains, leading to developmental delay, seizures, hypotonia, and/or rare cardiac complications in infancy.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Background: Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. However, collection of additional biopsies and establishment of lab workflows, analytical pipelines, and defined concepts in clinical interpretation of aberrant gene expression are still needed for adopting RNA sequencing (RNA-seq) in routine diagnostics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Purpose: Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants.

Methods: Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized.

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.

Mitochondria play essential roles in numerous metabolic pathways including the synthesis of adenosine triphosphate through oxidative phosphorylation. Clinically, mitochondrial diseases occur when there is mitochondrial dysfunction - manifesting at any age and affecting any organ system; tissues with high energy requirements, such as muscle and the brain, are often affected. The clinical heterogeneity is parallel to the degree of genetic heterogeneity associated with mitochondrial dysfunction.

Massive Leiomyomata and Severe Endometriosis Resulting in a Frozen Pelvis in an Asymptomatic Patient.

Leiomyomas, also known as uterine fibroids, are the most common benign uterine tumors in women. The most frequently reported symptoms are uterine bleeding and abdominal and/or pelvic pressure; however, most cases are asymptomatic and may be found incidentally. Endometriosis is a condition where the endometrium proliferates outside of the uterine cavity.