Acne vulgaris, a common dermatological condition that affects most adolescents and young adults, can indicate an underlying pathology if present prematurely in mid-childhood. Premature acne can be caused by premature adrenarche secondary to non-classical congenital adrenal hyperplasia (NC-CAH), a condition arising from 21-hydroxylase deficiency. This report describes a pair of monozygotic twin brothers with identical premature onset of acne, who were found to have an identical homozygous mutation in the promoter region of the CYP21A2 gene. While it is widely known that NCCAH is associated with genetic changes, the drive behind onset of adrenarche are widely unknown. As such, this report provokes thoughts on whether adrenarche could be influenced by adrenal genetic polymorphisms.
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http://dx.doi.org/10.1111/ajd.14117 | DOI Listing |
Circ Cardiovasc Qual Outcomes
January 2025
Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA. (L.T., K.S.D., K.P.T., J.D.B.).
Background: Food insecurity is associated with high morbidity and mortality and is typically measured with the 10-item US Adult Food Security Survey Module. Shorter instruments may capture similar information, but this has not been validated against mortality in general populations.
Methods: A nationally representative sample of individuals aged 20 to 74 years from the US National Health Interview Survey 2011 to 2018 was included, with deaths linked to the National Death Index through 2019.
Int Immunopharmacol
January 2025
Department of Transfusion Medicine, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou 225300, Jiangsu, China. Electronic address:
Objective: The objective of this study was to rigorously investigate and elucidate the genetic mechanisms underlying the formation of the RH blood group in a specific case and to systematically analyse the RH blood group genes among the family members of the proband.
Methods: Serological methods were used to determine the RH blood group phenotype of the proband. To elucidate the underlying genetic mechanism responsible for the RH phenotype, a comprehensive approach was undertaken, including RHCE genotyping, sequencing of RHD and RHCE genes, and exon sequencing of RHAG.
Am J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFContemp Clin Trials
December 2024
UCD Perinatal Research Centre, UCD School of Medicine, University College Dublin, National Maternity Hospital, Dublin 2, Ireland; National Maternity Hospital, Dublin 2, Ireland. Electronic address:
Introduction: Effective spontaneous preterm birth (sPTB) prevention is an urgent unmet clinical need. Vaginal depletion of Lactobacillus crispatus is linked to sPTB. This trial will investigate impact of an oral Lactobacillus spp.
View Article and Find Full Text PDFCancers (Basel)
November 2024
Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy.
Background/objective: Large genomic rearrangements of gene, particularly deletions and duplications, have been linked to hereditary breast-ovarian cancer. Our research specifically focuses on delineating the intronic breakpoints associated with rearrangements of exon 11, which is crucial for understanding the mechanisms underlying these genomic changes in patients with hereditary breast and ovarian syndrome.
Methods: By using next-generation sequencing, we identified one duplication and three deletions of exon 11, confirmed by Multiplex Ligation-Dependent Probe Amplification analysis.
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