Results 81 to 90 of about 416,851 (314)

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

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

Effect Of Oestradiol On Mouse Vaginal Epithelium [PDF]

, 2006
Oestradiol which induces the proliferation of the vaginal epithelium is used in the oestrogen replacement therapy for menopausal and postmenopausal disorders. The exact onset of induced cell proliferation and recovery to the controlled level has not been
Prabhu V, Dr. Latha, Pai M, Dr. Mangala, Shetty, Dr. Prakash   +2 more
core  

Bacterial vaginosis and risk for Trichomonas vaginalis infection: a longitudinal analysis.

, 2011
BACKGROUND: Bacterial vaginosis (BV) and Trichomonas vaginalis (TV) have been estimated to affect one-quarter to one-third of sexually active women worldwide, and are often found concurrently. Few studies have examined this relationship longitudinally to
Madhivanan, Purnima, Anjali Arun, Sujit D. Rathod, Karl Krupp, Arthur L. Reingold, Krupp, Karl, Jeffrey D. Klausner, Rathod, Sujit D, Reingold, Arthur L, Purnima Madhivanan, Klausner, Jeffrey D, Arun, Anjali   +11 more
core   +1 more source

The reliability of a structured examination protocol and self administered vaginal swabs: a pilot study of gynaecological outpatients in Goa, India. [PDF]

, 2003
OBJECTIVES: Low participation rates for gynaecological examination and low reliability of clinical reporting of gynaecological examination findings are problems in community studies of gynaecological morbidity in India. This pilot study aimed to describe
Nevrekar, P, Sahasrabhojanee, M, Patel, V, Menezes, S, Mabey, D, Tanksale, VS   +5 more
core   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Risk factors for herpes simplex virus type 2 and HIV among women at high risk in northwestern Tanzania: preparing for an HSV-2 intervention trial. [PDF]

, 2007
OBJECTIVES: To determine prevalence of and risk factors for herpes simplex virus type 2 (HSV-2) and HIV among women being screened for a randomized, controlled trial of HSV suppressive therapy in northwestern Tanzania. METHODS: Two thousand seven hundred
Mugeye, Kokugonza, Hayes, Richard J, Balira, Rebecca, Knight, Louise, Ross, David, Changalucha, John, Weiss, Helen A, Baisley, Kathy, Watson-Jones, Deborah, Rusizoka, Mary, Everett, Dean   +10 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Comparison of Midterm Efficiency and Complications of Tension-Free Vaginal Tape Alone and Tension-Free Vaginal Tape Performed with Vaginal Hysterectomy

, 2017
Aim: To evaluate and compare the results and complications of tension-free vaginal tape (TVT) when performed alone or with vaginal hysterectomy (VH) and to evaluate the mid-term success rates of TVT for both groups.
Emre Sinan Güngör, Ağahan Han, Hüseyin Kıyak   +2 more
core   +1 more source

Identifying the Service Requirements for Primary Sexual Assault Medical Care and Forensic Evidence Collection in a Remote First Nations Community

Australian Journal of Social Issues, EarlyView.
ABSTRACT First Nations female sexual assault survivors in remote Northern Territory (NT) face significant barriers accessing place‐based medical care and forensic evidence collection, subsequently requiring evacuation to specialist services. Using decolonising Participatory Action Research methods, this study identified the workforce, training, and ...
Theresa Clasquin, Rachel Dikul Baker, Rosemary Gundjarranbuy, Annie Whybourne, Sue Kildea, Sue Kruske, Elaine Ḻäwurrpa Maypilama, Sarah Ireland   +7 more
wiley   +1 more source