Results 71 to 80 of about 154,264 (216)

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Retrospective cohort study of the association between maternal employment precarity and infant low birth weight in women in the USA. [PDF]

BMJ Open, 2020
Patil D, Enquobahrie DA, Peckham T, Seixas N, Hajat A.   +4 more
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

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

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Incidence of phototherapy-induced hypocalcemia in neonates with hyperbilirubinemia [PDF]

Medical Laboratory Journal
Background: Hyperbilirubinemia is the most common clinical abnormality in newborns during the first week of life. Phototherapy is the standard treatment but may cause complications, including hypocalcemia, a lesser-known yet significant adverse effect ...
Mazhar Khan, Akash Sarkate, Poonam Wade, Sushma Mailk   +3 more
doaj  

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

Magnitude and Correlates of Low Birth Weight at Term in Rural Wardha, Central India

Online Journal of Health & Allied Sciences, 2016
Introduction: Birth weight is one of the most important determinant of the neonatal and infant survival. The goal of reducing low birth weight incidence by at least one third between 2000 and 2010 was one of the major goals in ‘A World Fit for Children’.
Kumar V, Deshmukh PR, Taywade M, Gupta SS   +3 more
doaj