Results 111 to 120 of about 21,565 (298)

Genetics of Type 2 Diabetes - Pitfalls and Possibilities [PDF]

, 2015
Type 2 diabetes (T2D) is a complex disease that is caused by a complex interplay between genetic, epigenetic and environmental factors. While the major environmental factors, diet and activity level, are well known, identification of the genetic factors ...
Groop, Leif, Prasad, Rashmi B.
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

Postdelivery adjustment of gestational carriers, intended parents, and their children

Fertility and Sterility, 2020
Surrogacy raises a number of concerns about the psychological adjustment of the surrogate, the parents, and the child. Despite surrogacy becoming more common, research into the postdelivery psychological adjustment of the individuals involved has lagged far behind.
openaire   +3 more sources

A Racial Impact Analysis of HB 462 [PDF]

, 2012
The adoption of House Bill 462 into law brings forth questions about the probable impact on the physical, mental, emotional and financial well-being of the women in Virginia.
Bryan, Daphne, Grace E. Harris Leadership Institute, Virginia Commonwealth University, McCoy, Tarvaris, Randolph, William   +3 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

JAK2V617F-positive clonal hematopoiesis of indeterminate potential in pregnant women

Акушерство, гинекология и репродукция, 2019
Aim: to assess the prevalence of V617F somatic mutation of the JAK2 gene in pregnant women.Materials and methods. This non-interventional study was performed in the framework of routine clinical practice and included 1532 samples of venous blood from ...
I. A. Olkhovskiy, J. G. Garber, A. S. Gorbenko, M. A. Stolyar, O. M. Miller, E. S. Kostina, Yu. Yu. Komarovskiy, V. V. Potilitsina   +7 more
doaj   +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

Mothers by contract: the moral and regulatory maze of surrogacy

Journal of Perinatal Medicine
Surrogacy is a complex and evolving practice that sits at the intersection of reproductive medicine, ethics, law, and social policy. This comprehensive review traces the historical, medical, and ethical foundations of surrogacy, from its roots in early ...
Bentov Yaakov, Schenker Joseph
doaj   +1 more source

TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population

BMC Medical Genetics, 2007
Background In adults, the TCF7L2 rs7903146 T allele, commonly associated with type 2 diabetes (T2D), has been also associated with a lower body mass index (BMI) in T2D individuals and with a smaller waist circumference in subjects with impaired glucose ...
Gaget Stefan, Durand Emmanuelle, Deghmoun Samia, Choquet Hélène, Meyre David, Cauchi Stéphane, Lecoeur Cécile, Froguel Philippe, Levy-Marchal Claire   +8 more
doaj   +1 more source

A microscopically assisted limited colectomy mouse model of early colon cancer

Animal Models and Experimental Medicine, EarlyView.
Establishment, surgery, and evaluation process of a microscope‐assisted limited colon resection mouse model for early‐stage colon cancer. Abstract Background Currently, there is a lack of an adequate rodent model for investigating surgical techniques and comprehensive treatment options for patients with colorectal cancer (CRC).
Yu Han, Yixin Zhang, Dazhi Gao, Xuefeng Zhao   +3 more
wiley   +1 more source