Systematic studies of germ line genetic predisposition to myeloid neoplasms in adult patients are still limited. In this work, we performed germ line and somatic targeted sequencing in a cohort of adult patients with hypoplastic bone marrow (BM) to study germ line predisposition variants and their clinical correlates. The study population included 402 consecutive adult patients investigated for unexplained cytopenia and reduced age-adjusted BM cellularity. Germ line mutation analysis was performed using a panel of 60 genes, and variants were interpreted per the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines; somatic mutation analysis was performed using a panel of 54 genes. Of the 402 patients, 27 (6.7%) carried germ line variants that caused a predisposition syndrome/disorder. The most frequent disorders were DDX41-associated predisposition, Fanconi anemia, GATA2-deficiency syndrome, severe congenital neutropenia, RASopathy, and Diamond-Blackfan anemia. Eighteen of 27 patients (67%) with causative germ line genotype were diagnosed with myeloid neoplasm, and the remaining with cytopenia of undetermined significance. Patients with a predisposition syndrome/disorder were younger than the remaining patients and had a higher risk of severe or multiple cytopenias and advanced myeloid malignancy. In patients with myeloid neoplasm, causative germ line mutations were associated with increased risk of progression into acute myeloid leukemia. Family or personal history of cancer did not show significant association with a predisposition syndrome/disorder. The findings of this study unveil the spectrum, clinical expressivity, and prevalence of germ line predisposition mutations in an unselected cohort of adult patients with cytopenia and hypoplastic BM.
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http://dx.doi.org/10.1182/blood.2022019304 | DOI Listing |
J Med Internet Res
December 2024
Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
Background: Mobile health (mHealth) interventions have gained popularity in augmenting psychiatric care for adults with psychosis. Interest has grown in leveraging mHealth to empower individuals living with severe mental illness and extend continuity of care beyond the hospital to the community. However, reported outcomes have been mixed, likely attributed in part to the intervention and adopted outcomes, which affected between-study comparisons.
View Article and Find Full Text PDFInt J Audiol
December 2024
Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital (UZA), Edegem, Belgium.
Objective: This study assessed the relevance of auditory brainstem response (ABR) thresholds in evaluating cochlear implantation (CI) candidacy by studying their correlation with functional hearing in patients with sensorineural hearing loss (SNHL).
Design And Study Sample: In this retrospective study, we examined correlations between ABR thresholds, speech perception scores in quiet and pure-tone audiometry in 191 adults. We compared these correlations between individuals with different degrees of SNHL to discern differences in potential CI candidates and individual with less severe SNHL.
JAMA Cardiol
December 2024
Section for Cardiac Electrophysiology, Division of Cardiovascular Medicine, Department of Medicine, University of Pennsylvania, Philadelphia.
Importance: Infrequent intraprocedural premature ventricular complexes (PVCs) limit the efficacy of catheter ablation. Intravascular stimulation of sympathetic nerves via vertebral veins (VVs) has been used to activate cardiac sympathetic tone and may promote PVCs.
Objective: To characterize the ability of direct electrical sympathetic stimulation via VVs to induce PVCs at the time of catheter ablation.
Int J Audiol
December 2024
Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.
Objectives: The purpose of this study was to investigate a policy-related factor and patient-related factors that might affect hearing aid adoption for adults, specifically price unbundling, and demographic and audiologic factors, respectively.
Design: Retrospective data from hearing aid consultation appointments in an audiology clinic in a medical centre were examined. Appointments were conducted between 2019 and 2023, capturing visits when services and devices were charged using a model that was bundled (2019-2022) and unbundled (2023).
JAMA Netw Open
December 2024
School of Pharmacy, University of Maryland, Baltimore.
Importance: Initiating effective therapy early is associated with improved survival among patients hospitalized with gram-negative bloodstream infections; furthermore, providing early phenotype-desirable antimicrobial therapy (PDAT; defined as receipt of a β-lactam antibiotic with the narrowest spectrum of activity to effectively treat the pathogen's phenotype) is crucial for antimicrobial stewardship. However, the timing of targeted therapy among patients hospitalized with gram-negative bloodstream infections is not well understood.
Objective: To compare the clinical outcomes between patients who were hospitalized with Enterobacterales bloodstream infections receiving early vs delayed PDAT.
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