Results 201 to 210 of about 304,351 (269)

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

Hepatitis B Immunization Among Healthcare Students: A Narrative Review of Occupational Risk, Seroprotection, and Immunization Management. [PDF]

Vaccines (Basel)
Ippoliti L, Giovinazzo V, Coppeta L, Bizzarro G, Ferrari C, Mazza A, Paolino A, Pallone S, Pasanisi M, Salvi C, Verno G, Vischetti A, Magrini A.   +12 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

Breastfeeding in infancy confers sex-specific, long-term protection against metabolic dysfunction-associated steatohepatitis and adverse liver outcomes. [PDF]

Biol Sex Differ
Chen H, Chen H, Shen S, Ji X, Deng H, Wang Q, Zhang Q, Dong M, Ren J, Hu G, Sun J, Wang K.   +11 more
europepmc   +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

Mentalizing and Attachment From Infancy to Young Adulthood: Insights From the Metera Adoption Study. [PDF]

Personal Ment Health
Zournatzidis P, Vorria P, Krana E, Fonagy P, Luyten P.   +4 more
europepmc   +1 more source

Connecting prenatal exposure to paracetamol with postnatal reproductive development: a first of its kind study in reproductive toxicology. [PDF]

Hum Reprod Open
De Geyter C.
europepmc   +1 more source