Results 161 to 170 of about 13,060,359 (252)

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Maternal health infrastructure investments in Zambia: leveraging geospatial evidence to inform planning and prioritization. [PDF]

Health Policy Plan
Katyoka E, Banda K, Wamulume J, Mwanza P, Mumba F, Abdallah I, Shakwelele H, Akinola O, Zimba R.   +8 more
europepmc   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Mandated supporting, not reporting: Reimagining maternal health care for women who use drugs. [PDF]

Soc Sci Med
Ciraldo K, Plesons M, Sansbury G, Culbertson K, Kakani H, Finster J, Suarez E, Tookes HE, Nowotny KM.   +8 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Acceptability of Modified Early Obstetric Warning Systems Among Midwives in Malawi; An Exploratory Qualitative Study

International Journal of Women's Health
Neggie Chinyanga Mkundika Mndolo,1,2 Masumbuko Albert Baluwa,1,3 Naomi Kyeremaa Yeboa,1 Abigail Kazembe,1 Ellen Chirwa1 1School of Maternal Neonatal and Reproductive Health, Kamuzu University of Health Sciences, Blantyre, Malawi; 2Department of Midwifery,
Mndolo NCM, Baluwa MA, Yeboa NK, Kazembe A, Chirwa E   +4 more
doaj  

The cesarean epidemic in Bangladesh: Associated factors and maternal health risks. [PDF]

J Public Health Res
Ali H, Manik MIN, Fahad TM, Fuad KM, Islam SR, Mamun A, Haque MA, Islam MS, Alam ME, Naz T, Haque S, Hasan MF, Khan MRI, Khan A.   +13 more
europepmc   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Investigation of the Effect of Pregnant Women's Maternal Health Literacy on Healthy Lifestyle Behaviors. [PDF]

Healthcare (Basel)
Şanlı C, Doğan Yüksekol Ö, Baltacı N, Ulucan M.   +3 more
europepmc   +1 more source