Results 51 to 60 of about 5,629,397 (283)

Ultrasound evidence of early fetal growth restriction after maternal malaria infection. [PDF]

open access: yes, 2012
BACKGROUND: Intermittent preventive treatment (IPT), the main strategy to prevent malaria and reduce anaemia and low birthweight, focuses on the second half of pregnancy. However, intrauterine growth restriction may occur earlier in pregnancy. The aim of
Papageorghiou Aris T.   +39 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

A new phenotipical variant of intrauterine growth restriction?

open access: yes, 2007
OBJECTIVES: A link between intrauterine growth restriction and major adult-onset diseases has been reported. In this study we observed a series of hitherto-unrecognized clinical features in a population of children with intrauterine growth restriction.
Daniele Costantini   +19 more
core   +1 more source

Ayurvedic Management of Intra Uterine Growth Restriction; A Case Report

open access: yesKerala Journal of Ayurveda, 2023
Intra-uterine growth restriction is one of the serious dilemmas affecting pregnant women worldwide. It can be considered when the birth weight of the foetus is below the 10th percentile of the average for the gestational age.
Asha S T   +4 more
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

Strategies in intrauterine growth restriction at term [PDF]

open access: yes, 2012
To establish consensus and to collect evidence on the best management policy in intrauterine growth restriction (IUGR) at term, the DIGITAT-trial (Disproportionate Intrauterine Growth Intervention Trial At Term) was designed. The aim of the DIGITAT study
Boers, K.E.
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy   +21 more
wiley   +1 more source

Twin pregnancies and the limits of the energetics of gestation and growth hypothesis

open access: yesThe Anatomical Record, EarlyView.
Abstract The “Energetics of Gestation and Growth” (EGG) hypothesis proposes that human birth timing and the associated secondary altriciality of human newborns is determined by limits in maternal metabolic capacity. According to this model, labor is triggered when the increasing fetal energy requirements exceed the expectant mother's maximum sustained ...
Cédric Cordey   +2 more
wiley   +1 more source

Investigating the Potential of Sildenafil in Mitigating Fetal Growth Restriction: A Study on Experimentally Restricted Fetal Growth Rats [PDF]

open access: yesIranian Journal of Veterinary Surgery
Intrauterine growth restriction (IUGR) is a common pregnancy complication. Sildenafil is also emerging as a potential candidate for the treatment of IUGR.
Ghasem Akbari   +4 more
doaj   +1 more source

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