Results 121 to 130 of about 10,779,854 (376)

Exhaustive repertoire of human vaginal microbiota

Human Microbiome Journal, 2019
Bacteria that colonize the vaginal microbiota of women play an important role in health and homeostasis. Disruption of the proportion of bacteria predisposes to dysbiosis like bacterial vaginosis or severe gynecological conditions such as preterm birth ...
K. Diop, J. Dufour, A. Levasseur, F. Fenollar   +3 more
semanticscholar   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Partial Vaginectomy, Complete Vaginectomy, Partial Vestibule-Vaginectomy, Vulvo-Vestibule-Vaginectomy and Vulvo-Vestibulectomy: Different Surgical Procedure in Order to Better Approach Vaginal Diseases. [PDF]

Animals (Basel), 2022
Zambelli D, Valentini S, Ballotta G, Cunto M.   +3 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

HTLV-1 Proviral Load in Vaginal Fluid Correlates with Levels in Peripheral Blood Mononuclear Cells

, 2023
Background: The prevalence of human T-lymphotropic virus type-1 (HTLV-1) infection is higher in women, and sexual intercourse has been described as an important route of male-to-female transmission.
Alisson de Aquino Firmino, Everton da Silva Batista, Jean Paulo Lacerda Araújo, Bernardo Galvão-Castro, Thessika Hialla Araújo, Paulo Roberto Tavares Gomes Filho, Adenilda Lima Lopes Martins, Luana Leandro Gois, Maria Fernanda Rios Grassi   +8 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Perceived Health Risks of Vaginal Douching Among Women of Color

, 2011
The practice of vaginal douching has been linked to harmful reproductive effects. This research includes primary data analysis examining the douching frequency of young, non-White women at a large Midwestern university.
Dieudonne, Darcelle
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Bacterial vaginosis and vaginal yeast, but not vaginal cleansing, increase HIV-1 acquisition in African women

, 2008
OBJECTIVE: To evaluate interrelationships between bacterial vaginosis (BV), vaginal yeast, vaginal practices (cleansing and drying/tightening), mucosal inflammation, and HIV acquisition. METHODS: A multicenter, prospective, observational cohort study was
Awio, Peter, Padian, Nancy S., Salata, Robert A., van der Pol, Barbara, van de Wijgert, Janneke H. H. M., Morrison, Charles S., Moncada, Jeanne, Cornelisse, Peter G. A., Chipato, Tsungai, Munjoma, Marshall, Wang, Jing   +10 more
core   +1 more source