Results 91 to 100 of about 164,622 (370)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Frontiers in Nutrition, 2022 BackgroundStudies assessing links between maternal diet and pregnancy outcomes have focused predominantly on individual nutrients or foods. However, nutrients are typically consumed in combinations of foods or beverages (i.e., dietary patterns).
Jamie V. de Seymour +9 more
doaj +1 more source
BMC Public Health, 2013 BackgroundShort and long birth intervals have previously been linked to adverse neonatal outcomes. However, much of the existing literature uses cross-sectional studies, from which deriving causal inference is complex.
Naoko Kozuki +8 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Metabolic adaptation in small for gestational age infants. [PDF]
Archives of Disease in Childhood, 1993 Hypoglycaemia has long been recognised as a feature of the failure of metabolic adaptation in infants who are small for gestational age (SGA). This study examined the process of metabolic adaptation by measuring, longitudinally, the concentrations of metabolic fuels and substrates in 33 SGA infants in the first postnatal week, and relating these to ...
J M, Hawdon, M P, Ward Platt
openaire +2 more sources
Vitamin A and zinc supplementation among pregnant women to prevent placental malaria: a randomized, double-blind, placebo-controlled trial in Tanzania [PDF]
, 2017 BACKGROUND: Malaria causes nearly 200 million clinical cases and approximately half a million deaths each year, primarily in sub-Saharan Africa.1 The risk of malaria increases during pregnancy,2 a period during which its prevention is especially ...
Abioye, Aijibola Ibraheem +12 more
core +1 more source
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 +13 more
wiley +1 more source
, 2019 We develop an approach to risk classification based on quantile contours and allometric modelling of multivariate anthropometric measurements. We propose the definition of allometric direction tangent to the directional quantile envelope, which divides ...
Boghossian, Nansi S. +3 more
core +1 more source
Linking maternity data for England 2007: methods and data quality [PDF]
, 2011 Maternity Hospital Episode Statistics (HES) data for 2007 were linked to birth registration and NHS Numbers for Babies (NN4B) data to bring together some key demographic and clinical data items not otherwise available at a national level.
Datta-Nemdharry, P. +2 more
core +1 more source
Small for gestational age and obesity related comorbidities
Annals of Pediatric Endocrinology & Metabolism, 2018 Infant born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature and metabolic alterations in later life.
Y. Hong, Sochung Chung
semanticscholar +1 more source