Results 71 to 80 of about 341,333 (296)

Chromosome microarray analysis in the investigation of children with congenital heart disease

BMC Pediatrics, 2017
Background Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
Xiao-li Wu, Ru Li, Fang Fu, Min Pan, Jin Han, Xin Yang, Yong-ling Zhang, Fa-tao Li, Can Liao   +8 more
doaj   +1 more source

“And in some cases, we're the best option:” A qualitative study of community‐based doula support for black perinatal mental health

American Journal of Community Psychology, EarlyView.
Abstract We explored community‐based doulas' perspectives on the acceptability of using formal screening tools to address low rates of mental health screening, diagnosis, and treatment for perinatal anxiety and depression among Black women. Using thematic analysis, we analyzed interview data from 30 community‐based doulas who support Black families ...
Tamara Nelson, Naysha N. Shahid, Samrawit B. Gebretensay, Chareina C. Johnson, Penny D. Telesford, Karen Sheffield‐Abdullah   +5 more
wiley   +1 more source

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

Molecular Cytogenetics
Background Right aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients.
Lu Zhang, Ruibin Huang, Hang Zhou, Xiaomei Lin, Fei Guo, Xiangyi Jing, Yongling Zhang, Fucheng Li, Fatao Li, Qiuxia Yu, Dan Wang, Guilan Chen, Fang Fu, Min Pan, Jin Han, Dongzhi Li, Ru Li   +16 more
doaj   +1 more source

Factor XIII Supplementation in Postpartum Hemorrhage: From Biological Rationale to Clinical Implementation

American Journal of Hematology, EarlyView.
ABSTRACT Postpartum hemorrhage (PPH) remains the leading cause of preventable maternal mortality despite standard interventions. Recent fibrinogen trials failed to improve outcomes, prompting interest in coagulation factor XIII (FXIII). FXIII functions as “molecular cement,” cross‐linking fibrin and stabilizing clots.
Jeremy W. Jacobs, Elizabeth A. Abels, Brian D. Adkins, Garrett S. Booth, Victoria Costa, Sheharyar Raza, Michelle Simon, Jennifer S. Woo, Allison P. Wheeler   +8 more
wiley   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

Prenatal Diagnosis Leads to Early Diagnosis of Transfusion-Dependent Thalassemia and Better Growth Outcomes [PDF]

, 2021
Natthida Asawasudsakorn, Supanun Lauhasurayotin, Hansamon Poparn, Kanhatai Chiengthong, Darintr Sosothikul, Noppadol Chaiyasit, Piti Techavichit   +6 more
openalex   +1 more source

Impact of Secondary Prevention on Mortality in the Building Trades National Medical Screening Program: Effectiveness of Occupational High‐Risk Management

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Since 1997 the Building Trades National Medical Screening Program (BTMed) has offered medical exams to construction workers employed in US nuclear weapons facilities. The process consists of two steps: (1) a detailed work history interview; and (2) a medical exam.
Knut Ringen, John M. Dement, Marianne Cloeren, Sammy Almashat, William Grier, Stella Hines, Laura S. Welch, Kim Cranford, Scott Haas, Patricia Quinn, Anna Chen, Miles Fisher   +11 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source