Results 71 to 80 of about 368,219 (263)

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Late-Onset Sepsis in a Premature Infant Mediated by Breast Milk: Mother-to-Infant Transmission of Group B Streptococcus Detected by Whole-Genome Sequencing

Infection and Drug Resistance, 2022
Aiyun Li,1,* Ming Fang,2,* Dongjie Hao,1 Qiaoai Wu,1 Yaqi Qian,1 Hao Xu,3,4 Bo Zhu1 1Department of Clinical Medicine, The Women’s Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, People’s Republic of China; 2Institute of ...
Li A, Fang M, Hao D, Wu Q, Qian Y, Xu H, Zhu B   +6 more
doaj  

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

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

The mechanism of labor in nonhuman primates: A look inside

The Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source

Prevalence of pregnancy and birth outcomes following biologic exposure in immune‐mediated inflammatory diseases: A population‐based study

British Journal of Clinical Pharmacology, EarlyView.
Aims Almost 5% of pregnancies are affected by immune‐mediated inflammatory diseases (IMIDs). As treatments become available, understanding their use during pregnancy is important. We aimed to describe maternal, pregnancy and infant outcomes among IMID pregnancies exposed to biologic therapies. Methods Using the Merative™ MarketScan® Commercial Database,
Leah K. Flatman, Lisiane F. Leal, Gabra Nohmie, Anick Bérard   +3 more
wiley   +1 more source

Case Report: Clinical characteristics and multidisciplinary collaborative management of congenital tuberculosis in extremely preterm twins and preterm infants: a report of three cases and literature review

Frontiers in Pediatrics
AimsThis study aims to report three cases of maternal-fetal transmission of tuberculosis in premature infants, systematically analyze their clinical characteristics, diagnostic processes, and treatment outcomes, explore the core role of the ...
Liming Yang, Liming Yang, Lunli Yue, Lunli Yue, Qiong Chen, Qiong Chen, Xi Huang, Xi Huang   +7 more
doaj   +1 more source