Results 101 to 110 of about 241,099 (281)

Pre-pregnancy care for women with pre-gestational diabetes mellitus : a systematic review and meta-analysis [PDF]

, 2012
Background Pre-gestational diabetes mellitus is associated with increased risk for maternal and fetal adverse outcomes. This systematic review was carried out to evaluate the effectiveness and safety of pre-pregnancy care in improving the rate of ...
Samia A Esmaeil, Wahabi, Haifa A. A., Alzeidan, Rasmieh A., Hayfaa A Wahabi, Esmaeil, Samia A., Rasmieh A Alzeidan   +5 more
core   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Congenital Abnormalities [Portuguese]

Congenital Abnormalities [Portuguese]Planeje sua gravidezCom o surto de zika, planejar sua gravidez e\ucc? mais importante do que nunca.PT_50179.pdfSe voce\ucc\u201a esta\ucc?

core  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Maternal exposure to SSRIs or SNRIs and the risk of congenital abnormalities in offspring: A systematic review and meta-analysis. [PDF]

PLoS One, 2023
Huang W, Page RL, Morris T, Ayres S, Ferdinand AO, Sinha S.   +5 more
europepmc   +1 more source

Dislocated Extensor Mechanism in a Child With Bilateral Absent Patella Without Other Congenital Abnormalities. [PDF]

J Am Acad Orthop Surg Glob Res Rev, 2023
Yu A, Yu A, Russo M, Kothakapa D, Huang P, Mantica A.   +5 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia. [PDF]

Hum Genet, 2023
Zagnoli-Vieira G, Brazina J, Van Den Bogaert K, Huybrechts W, Molenaers G, Caldecott KW, Van Esch H.   +6 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

TRANSVAGINAL ECHOCARDIOGRAPHY FOR THE PRENATAL DETECTION OF THE CONGENITAL HEART DISEASES

Педиатрическая фармакология, 2009
The ultrasonic study in the early pregnancy may successfully be used to perform the early prenatal detection of the congenital heart diseases in fetuses with the non cardiac abnormalities and sonographic markers of the chromosome pathology.Key words ...
E.A. Shevchenko
doaj   +2 more sources