8,786 results match your criteria: "McKee; and the Rocky Vista University School of Medicine[Affiliation]"

Low libido is a common and potentially distressing problem among midlife and older women. We recently reported results from a pilot randomized controlled trial of a mindfulness intervention for midlife and older cisgender women with low libido; the purpose of this qualitative investigation is to illustrate women's experiences with being recruited for, enrolling in, and participating in the trial. We conducted individual interviews with a subset of trial participants, some of whom attended a group-based mindfulness intervention and some attended an educational control group (N = 25).

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Consensus Preconception Educational Domains for People With Mobility Disabilities: A Delphi Study.

Womens Health Issues

December 2024

Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Women's Research Institute, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:

Background: Preconception health education is critical to improve pregnancy and neonatal outcomes, but people with mobility disabilities have specific, often unique issues related to preparing for pregnancy. This study sought to develop consensus-based domains for a preconception education curriculum for people with mobility disabilities.

Methods: We used a mixed methods approach, including a literature review and a Delphi method to develop consensus.

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Chromosome X-wide common variant association study in autism spectrum disorder.

Am J Hum Genet

January 2025

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD.

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Purpose: In the adult literature, allograft reconstruction of gapped peripheral nerve injuries has gained popularity over autologous nerve grafting. Allografts have demonstrated similar recovery while eliminating donor site morbidity. There is no well-defined incidence or treatment of such injuries in children.

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BRCA2 germline mutation carrier with five malignancies: a case report.

Hered Cancer Clin Pract

December 2024

Department of Medical Oncology, Cantonal Hospital Lucerne, Spitalstrasse 16, Lucerne, 6000, Switzerland.

Background: BRCA2 germline mutations are known to predispose carriers to various cancer types, including breast, ovarian, pancreatic and prostate cancer. An association with melanoma has also been reported. However, the full tumour spectrum associated with BRCA2 mutations, particularly in patients with other concurrent pathogenetic mutations, is unexplored.

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Chronic conditions among transgender Medicare beneficiaries: Variation by race, ethnicity, and Medicaid dual-enrollment.

Disabil Health J

December 2024

Center for Health Promotion and Health Equity, Brown University School of Public Health, 121 S Main St, Providence, RI, 02903, USA; Department of Behavioral and Social Sciences, Brown University School of Public Health, 121 S Main St, Providence, RI, 02903, USA; Department of Epidemiology, Brown University School of Public Health, 121 S Main St, Providence, RI, 02903, USA. Electronic address:

Background: Transgender and gender diverse (TGD) adults experience disability at twice the rate of cisgender (non-TGD) adults in the US. TGD people of color and low-income TGD people experience intersecting discrimination that may compound chronic conditions and disability. To our knowledge, no research has focused on chronic conditions among TGD Medicare beneficiaries with disabilities.

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Article Synopsis
  • The study explores the biological differences linked to PTSD by examining DNA methylation changes in blood, suggesting they could indicate susceptibility or effects of trauma.
  • Conducted by the Psychiatric Genomics Consortium, the research included nearly 5,100 participants to identify specific genetic markers associated with PTSD.
  • Results showed 11 significant CpG sites related to PTSD, with some also showing correlations between blood and brain tissue methylation, highlighting their potential role in understanding PTSD biology.
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Purpose: To identify areas of consensus among experts on the performance of endothelial keratoplasty by using a modified Delphi approach, to help create a framework for novice surgeons to adopt these procedures.

Methods: Thirty-one international experts in endothelial keratoplasty participated. Two rounds of electronic survey were followed by a hybrid, virtual meeting.

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The World Health Organization declared COVID-19 to be a public health emergency of international concern on 30 January 2020 and then a pandemic on 11 March 2020. In early 2020, a group of UK scientists volunteered to provide the public with up-to-date and transparent scientific information. The group formed the Independent Scientific Advisory Group for Emergencies (Independent SAGE) and provided live weekly briefings to the public via YouTube.

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While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.

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Neurodegeneration is a seminal feature of many neurological disorders. Chronic traumatic encephalopathy (CTE) is caused by repetitive head impacts (RHI) and is characterized by sulcal tau pathology. However, quantitative assessments of regional neurodegeneration in CTE have not been described.

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Background: Pain plays a significant role in emergency department (ED) visits, however safe and effective nonpharmacologic options are needed. Prior studies of acupuncture in the ED reported pain reduction with minimal side effects, but most were small and single site.

Methods: We conducted ACUITY, a prospectively designed multi-center feasibility RCT.

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Type I IFN-mediated NET release promotes Mycobacterium tuberculosis replication and is associated with granuloma caseation.

Cell Host Microbe

December 2024

Department of Molecular Microbiology, Center for Women's Infectious Disease Research, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

Neutrophils are the most abundant cell type in the airways of tuberculosis patients. Mycobacterium tuberculosis (Mtb) infection induces the release of neutrophil extracellular traps (NETs); however, the molecular regulation and impact of NET release on Mtb pathogenesis are unknown. We find that during Mtb infection in neutrophils, PAD4 citrullinates histones to decondense chromatin that gets released as NETs in a manner that can maintain neutrophil viability and promote Mtb replication.

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X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Importance: Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy associated with repetitive head impacts (RHIs). Prior research suggests a dose-response association between American football play duration and CTE risk and severity, but this association has not been studied for ice hockey.

Objective: To investigate associations of duration of ice hockey play with CTE diagnosis and severity, functional status, and dementia.

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The editorial by McKee and colleagues is an important call to action to put a spotlight on trust and its role in the function of health systems. The authors make a good case for this focus considering how trust in health systems seems to have eroded in recent years, an erosion accelerated by the COVID-19 pandemic. They recognize that trust is complex given the many forms of trust, the importance of context, and its dynamic and unpredictable nature.

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Objective: The DRB1 locus is strongly associated with both susceptibility and resistance to rheumatoid arthritis (RA). DRB1 alleles encoding the VKA or VRA epitope in positions 11, 71, and 74 confer the highest risk of developing RA, whereas the allele encoding VEA is protective. We therefore investigated the feasibility of creating antigen-specific tolerance without inducing alloreactivity by replacing lysine with glutamic acid at position 71 in DRβ1*04:01.

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Integration of genomic medicine to mainstream patient care within the UK National Health Service.

Ulster Med J

November 2024

Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom.

Article Synopsis
  • The integration of genomic medicine into the NHS can enhance disease prediction and personalized treatment but faces several challenges, such as unclear eligibility criteria and access disparities.
  • Key proposed solutions include extending genetic test authority to general clinicians, improving workforce training, and standardizing guidelines for genomic testing across the UK.
  • Utilizing AI and better data management systems can help streamline the process, ultimately improving patient outcomes and advancing precision medicine in healthcare.
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