Results 151 to 160 of about 234,611 (389)

Study the immunomodulatory effect of hydroxychloroquine in recurrent pregnancy loss patients in their current pregnancy [PDF]

Background: Recurrent pregnancy loss is defined as 3 or more pregnancy loss consecutively. in most of the cases cause of pregnancy loss remains unclear. lethal chromosomal abnormality is commonly found in product of conception.
Singh, Mamta
core   +2 more sources

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Erratum for Hugerth et al., “Assessment of In Vitro and In Silico Protocols for Sequence-Based Characterization of the Human Vaginal Microbiome”

mSphere, 2020
Luisa W. Hugerth, Marcela Pereira, Yinghua Zha, Maike Seifert, Vilde Kaldhusdal, Fredrik Boulund, Maria C. Krog, Zahra Bashir, Marica Hamsten, Emma Fransson, Henriette Svarre Nielsen, Ina Schuppe-Koistinen, Lars Engstrand   +12 more
doaj   +1 more source

Knowledge, attitudes, and practices of patients with recurrent pregnancy loss toward pregnancy loss

Frontiers in Public Health
ObjectiveSelf-management is crucial in managing recurrent pregnancy loss (RPL). This study explored the knowledge, attitudes, and practices (KAP) of patients with RPL toward RPL.MethodsThis cross-sectional study was conducted among patients with RPL ...
Fangxiang Mu, Tianyu He, Kexin Wang, Fang Wang   +3 more
doaj   +1 more source

Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss [PDF]

, 2001
Shigeki Uehara, Masaki Hashiyada, Kazuyo Sato, Yumi Sato, Keiya Fujimori, Kunihiro Okamura   +5 more
openalex   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Recurrent Pregnancy Loss: An update

Pakistan Journal of Medicine and Dentistry
Recurrent pregnancy loss (RPL), a very distressing situation for the patient and physician, occurs in 1-5% of women who conceive. The cause of recurrent miscarriage is multifactorial, it may be caused by thrombotic, fibrinolytic, genetic, infectious ...
Samina Mohyiddin, Syed Tousif Ahmed
doaj  

DNA fragmentation measured by the TUNEL assay is increased in the sperm of couples with unexplained recurrent pregnancy loss. [PDF]

, 2001
Douglas T. Carrell, L Liu, Harry H. Hatasaka   +2 more
openalex   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Obstetrical family histories of women with unexplained recurrent pregnancy loss. [PDF]

, 2001
Caron A. C. Clark, Karen A. Spitzer, Jamie N. Nadler, Daniel Wong, Carl A. Laskin   +4 more
openalex   +1 more source