Results 121 to 130 of about 237,239 (331)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

Animal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong, Wei Qian, Deji Song, Kang Li, Li Zhang, Li Shi   +5 more
wiley   +1 more source

DYSBIOSIS OF THE VAGINAL MICROBIOTA IN GYNECOLOGICAL DISEASES

, 2022
Yuldasheva Farangiz Ismatiloevna, Zakirova Nodira Islamovna, Samieva Gulnoza Utkurovna   +2 more
openalex   +2 more sources

CNC–PNIPAM Drug Delivery System Improves Endometrial Receptivity via Natural Killer Cell Immune Tolerance in Endometriosis

Advanced NanoBiomed Research, EarlyView.
An injectable CNC–PNIPAM hydrogel is developed for intrauterine co‐delivery of levonorgestrel and botropase. This platform reprograms uterine natural killer cells toward an immune–tolerant phenotype and enhances endometrial receptivity marker expression. The results demonstrate a promising strategy to counteract endometriosis–associated infertility and
Zhou Liang, Yingjie Wang, Chenyu Bai, Pengfei Li, Xin He, Meng Ma, Xiaoying Luo, Yi Song, Yao Li, Yun Wang   +9 more
wiley   +1 more source

Primary vaginal cancer after hysterectomy for benign conditions: a systematic review of the literature

Frontiers in Oncology
BackgroundPrimary vaginal cancer is a rare condition. Some studies have revealed an increased risk of vaginal cancer among patients who have undergone hysterectomy for premalignant and malignant cervical disease.
Jing Qian, Kaoma Gracious, Li Chen, Song Xu   +3 more
doaj   +1 more source

Rush to Judgment: The STI-Treatment Trials and HIV in Sub-Saharan Africa

, 2015
Introduction: The extraordinarily high incidence of HIV in sub-Saharan Africa led to the search for cofactor infections that could explain the high rates of transmission in the region.
Akobeng, Anzala, Auvert, Boily, Cartwright, Celum, Celum, Cohen, Deaton, Downs, Eileen Stillwaggon, Estellat, Feldmeier, Fleming, Ghys, Ghys, Ghys, Glynn, Grabowski, Gray, Gray, Gregson, Grosskurth, Grosskurth, Habicht, Harms, Hayes, Hayes, Hayes, Hotez, Hugonnet, Kamali, Kaul, Kaul, Kinzig, Kjetland, Kjetland, Korenromp, Larry Sawers, Larson, Leutscher, Looker, Martin, Modjarrad, Ng, Orroth, Orroth, Orroth, Padian, Pickering, Poggensee, Poggensee, Quigley, R ttingen, Rotchford, Rothman, Rothman, Rothman, Sangani, Schwartz, Schwebke, Sewankambo, Sexton, Stillwaggon, Stillwaggon, Taha, Todd, Victora, Watson-Jones, Watson-Jones, Wawer, WHO, Department of Measurement and Health Information, Wijgert, Wijgert, Wolday, World Health Organization, Worrall   +76 more
core   +2 more sources

Nationwide Temporal Trends in Adverse Pregnancy Outcomes and Treatments in Systemic Lupus Erythematosus Pregnancy Over Two Decades in Sweden

Arthritis &Rheumatology, EarlyView.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen, Anna Sandström, Annica Dominicus, Elisabet Svenungsson, Karin Hellgren, Julia F. Simard, Elizabeth V. Arkema   +6 more
wiley   +1 more source

Features of changes in the vaginal microbiota of women of fertile age as a possible mechanism for the occurrence of chronic inflammatory diseases of the genital organs and modern correction possibilities

, 2020
Vl.V. Podolskyi, Vl.V. Podolskyi
openalex   +1 more source

Mixed Evidence for Impact of Early Infant Gut Microbiome and Later Development of Autism Spectrum Disorder in the MARBLES Prospective Cohort Study

Autism Research, EarlyView.
ABSTRACT This study investigated the relationship between early infant gut microbiome composition and subsequent neurodevelopmental outcomes. Fecal samples from children in the markers of autism risks in babies‐learning early signs (MARBLES) study, a cohort with elevated likelihood of autism, were collected between 0 and 7 months of age and analyzed ...
Jennie Sotelo‐Orozco, Diana H. Taft, Jassim Al‐Oboudi, Brittany C. Baikie, Cailyn Lake, Meghan Miller, David A. Mills, Daniel J. Tancredi, Rebecca J. Schmidt, Irva Hertz‐Picciotto, Deborah H. Bennett   +10 more
wiley   +1 more source