Possible role of TORCH agents in congenital malformations in Gorgan, northern Islamic Republic of Iran [PDF]
, 2009 This descriptive, cross-sectional study was carried out to explore the frequency of contamination with TORCH agents in neonates with congenital malformations in a referral centre in Gorgan city, Islamic Republic of Iran.
Ghaemi, E. +2 more
core +1 more source
A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds +5 more
wiley +1 more source
Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]
, 2013 Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core +1 more source
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]
, 2015 Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A +6 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit +16 more
wiley +1 more source
A Moment in Human Development: Legal Protection, Ethical Standards and Social Policy on the Selective Non-Treatment of Handicapped Neonates [PDF]
, 1985 Selective non-treatment decisions involving severely handicapped neonates have recently come under renewed judicial and legislative scrutiny. In this article, the author examines the legal, ethical and social considerations attendant to the non-treatment
Gostin, Lawrence O.
core +1 more source
Management of late-preterm and term infants with hyperbilirubinaemia in resource-constrained settings. [PDF]
, 2015 Hyperbilirubinaemia is a ubiquitous transitional morbidity in the vast majority of newborns and a leading cause of hospitalisation in the first week of life worldwide.
Boo, Nem-Yun +7 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source
The Study of Pulmonary Complication of Neonatal Mechanical Ventilation in NICU
پزشکی بالینی ابن سینا, 2016 Introduction & Objective: The main indication of mechanical ventilation is in the treatment of neonates with respiratory failure. With the increased use of mechanical ventilation, its complications have increased too.
Mohammad Kazem Sabzeie +4 more
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