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https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27898951/intrauterine-growth-restricted-piglets-have-similar-gastric-emptying-rates-but-lower-rectal-temperatures-and-altered-blood-values-when-compared-with-normal-weight-piglets-at-birth
#2
C Amdi, M V Klarlund, J Hales, T Thymann, C F Hansen
Intrauterine growth-restricted (IUGR) piglets have lower survival rates and are more likely to have empty stomachs 24 h after birth than normal piglets. Although hypoglycemia may result from low colostrum intake per se, it is not known if slow gastric emptying may be an additional risk factor for poor immunization and glucose absorption in IUGR piglets. It is estimated that IUGR piglets consume less colostrum per kilogram BW than normal-weight piglets within the first 24 h, which could be due to a slower gastric emptying rate and a compromised energy metabolism...
November 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27852422/differential-effects-of-young-maternal-age-on-child-growth
#3
Soo Hyun Yu, John Mason, Jennifer Crum, Claudia Cappa, David R Hotchkiss
BACKGROUND: The association of early maternal birthing age with smaller children has been widely observed. However, it is unclear if this is due to confounding by factors such as socioeconomic status, or the age at which child growth restriction first occurs. OBJECTIVE: To examine the effect of early maternal birthing age on the first-born child's height-for-age in a sample of developing countries in Africa, Asia, and Latin America. DESIGN: Cross-sectional data from Demographic Health Surveys from 18 countries were used, to select the first-born child of mothers aged 15-24 years and a range of potential confounding factors, including maternal height...
2016: Global Health Action
https://www.readbyqxmd.com/read/27525095/an-8-4-mb-3q26-33-3q28-microdeletion-in-a-patient-with-blepharophimosis-intellectual-disability-syndrome-and-a-review-of-the-literature
#4
Katrin Õunap, Sander Pajusalu, Olga Zilina, Tiia Reimand, Riina Žordania
3q26.33-3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short stature, intellectual disability, hypotonia, dysmorphic facial features (medially sparse eyebrows, narrow horizontal palpebral fissures, epicanthal folds, flat nasal bridge and tip, short philtrum, and downturned corners of mouth), and teeth and feet abnormalities.
August 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27432287/clinical-significance-of-slightly-lateral-ventricular-enlargement-in-healthy-infants
#5
Hideki Minowa, Kouichiro Hirayama, Ikuyo Arai, Hajime Yasuhara, Reiko Ebisu, Ayako Ohgitani
OBJECTIVE: The aim of this study was to determine the clinical significance of slightly lateral ventricular enlargement. METHODS: We examined 1,151 infants with a gestational age of 36 weeks or greater. We assessed for the presence of ventricular enlargement when apparent space was observed in the frontal horn or body of lateral ventricle by a transfontanel ultrasound scan. RESULTS: Two hundred forty-eight infants had ventricular enlargement...
July 18, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27339251/impact-of-continuous-vs-bolus-feeding-on-splanchnic-perfusion-in-very-low-birth-weight-infants-a-randomized-trial
#6
Valentina Bozzetti, Giuseppe Paterlini, Paola De Lorenzo, Diego Gazzolo, Maria Grazia Valsecchi, Paolo E Tagliabue
OBJECTIVE: To detect changes in splanchnic perfusion and oxygenation induced by 2 different feeding regimens in infants with intrauterine growth restriction (IUGR) and those without IUGR. STUDY DESIGN: This was a randomized trial in 40 very low birth weight infants. When an enteral intake of 100 mL/kg/day was achieved, patients with IUGR and those without IUGR were randomized into 2 groups. Group A (n = 20) received a feed by bolus (in 10 minutes), then, after at least 3 hours, received the same amount of formula by continuous nutrition over 3 hours...
September 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27335275/spontaneous-intrauterine-growth-restriction-due-to-increased-litter-size-in-the-guinea-pig-programmes-postnatal-growth-appetite-and-adult-body-composition
#7
D M Horton, D A Saint, J A Owens, K L Kind, K L Gatford
Intrauterine growth restriction (IUGR) and subsequent neonatal catch-up growth are implicated in the programming of increased appetite, adiposity and cardiometabolic diseases. Guinea pigs provide an alternate small animal model to rodents to investigate mechanisms underlying prenatal programming, being relatively precocial at birth, with smaller litter sizes and undergoing neonatal catch-up growth after IUGR. The current study, therefore, investigated postnatal consequences of spontaneous IUGR due to varying litter size in this species...
June 23, 2016: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/27304828/dietary-nucleotides-supplementation-improves-the-intestinal-development-and-immune-function-of-neonates-with-intra-uterine-growth-restriction-in-a-pig-model
#8
Lianqiang Che, Liang Hu, Yan Liu, Chuan Yan, Xie Peng, Qin Xu, Ru Wang, Yuanfang Cheng, Hong Chen, Zhengfeng Fang, Yan Lin, Shengyu Xu, Bin Feng, Daiwen Chen, De Wu
The current study aimed to determine whether dietary nucleotides supplementation could improve growth performance, intestinal development and immune function of intra-uterine growth restricted (IUGR) neonate using pig as animal model. A total of 14 pairs of normal birth weight (NBW) and IUGR piglets (7 days old) were randomly assigned to receive a milk-based control diet (CON diet) or diet supplemented with nucleotides (NT diet) for a period of 21 days. Blood samples, intestinal tissues and digesta were collected at necropsy and analyzed for morphology, digestive enzyme activities, microbial populations, peripheral immune cells, expression of intestinal innate immunity and barrier-related genes and proteins...
2016: PloS One
https://www.readbyqxmd.com/read/27190278/detection-of-expressional-changes-induced-by-intrauterine-growth-restriction-in-the-developing-rat-pancreas
#9
Lin Zhang, Wei Chen, Yuee Dai, Ziyang Zhu, Qianqi Liu
Intrauterine growth retardation (IUGR) is a disorder that can result in permanent changes in the physiology and metabolism of the newborn, which increased the risk of disease in adulthood. Evidence supports IUGR as a risk factor for the development of diabetes mellitus, which could reflect changes in pancreas developmental pathways. We sought to characterize the IUGR-induced alterations of the complex pathways of pancreas development in a rat model of IUGR. We analyzed the pancreases of Sprague Dawley rats after inducing IUGR by feeding a maternal low calorie diet from gestational day 1 until term...
July 2016: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27188336/effects-of-intrauterine-growth-retardation-and-bacillus-subtilis-pb6-supplementation-on-growth-performance-intestinal-development-and-immune-function-of-piglets-during-the-suckling-period
#10
Liang Hu, Xie Peng, Hong Chen, Chuan Yan, Yan Liu, Qin Xu, Zhengfeng Fang, Yan Lin, Shengyu Xu, Bin Feng, Jian Li, De Wu, Lianqiang Che
OBJECTIVES: The aim of this study was to investigate the effects of intrauterine growth retardation (IUGR) and Bacillus subtilis PB6 supplementation in formula milk (FORM) on growth performance, intestinal development and immune function of neonates using a porcine model. METHODS: Fourteen pairs of normal birth weight and IUGR piglets (7 days old) were randomly assigned to receive FORM or FORM supplemented with B. subtilis PB6 (FORM-BsPB6) for a period of 21 days...
May 17, 2016: European Journal of Nutrition
https://www.readbyqxmd.com/read/27050741/application-of-spectroscopy-1-hmrs-to-assess-liver-metabolite-concentrations-in-rats-with-intrauterine-growth-restriction
#11
Tao Wang, Pingyang Chen, Dujun Bian, Juncao Chen
OBJECTIVE: Proton Magnetic Resonance Spectroscopy ((1)H-MRS) measurement of liver metabolism in intrauterine growth restriction rats has seldom been reported. This study investigated the application of (1)H-MRS in assessing liver metabolism in newborn pups that experienced intrauterine growth restriction. METHODS: Intra-uterine growth restriction was established by feeding rats low-protein diets during pregnancy. Newborn pups received conventional magnetic resonance imaging and (1)H-MRS using a 3...
April 6, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/26907266/exploring-the-role-of-different-neonatal-nutrition-regimens-during-the-first-week-of-life-by-urinary-gc-ms-metabolomics
#12
Angelica Dessì, Antonio Murgia, Rocco Agostino, Maria Grazia Pattumelli, Andrea Schirru, Paola Scano, Vassilios Fanos, Pierluigi Caboni
In this study, a gas-chromatography mass spectrometry (GC-MS) metabolomics study was applied to examine urine metabolite profiles of different classes of neonates under different nutrition regimens. The study population included 35 neonates, exclusively either breastfed or formula milk fed, in a seven-day timeframe. Urine samples were collected from intrauterine growth restriction (IUGR), large for gestational age (LGA), and appropriate gestational age (AGA) neonates. At birth, IUGR and LGA neonates showed similarities in their urine metabolite profiles that differed from AGA...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/26895664/early-postnatal-feed-restriction-reduces-liver-connective-tissue-levels-and-affects-h3k9-acetylation-state-of-regulated-genes-associated-with-protein-metabolism-in-low-birth-weight-pigs
#13
Constance Nebendahl, Solvig Görs, Elke Albrecht, Ricarda Krüger, Karen Martens, Katrin Giller, Harald M Hammon, Gerald Rimbach, Cornelia C Metges
Intrauterine growth retardation is associated with metabolic consequences in adulthood. Since our previous data indicate birth weight-dependent effects of feed restriction (R) on protein degradation processes in the liver, it should be investigated whether effects on connective tissue turnover are obvious and could be explained by global changes of histone H3K9me3 and H3K9ac states in regulated genes. For this purpose, female littermate pigs with low (U) or normal (N) birth weight were subjected to 3-week R (60% of ad libitum fed controls) with subsequent refeeding (REF) for further 5 weeks...
March 2016: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/26821074/effect-of-bifidobacterium-breve-m-16v-supplementation-on-faecal-bifidobacteria-in-growth-restricted-very-preterm-infants-analysis-from-a-randomised-trial
#14
Sanjay K Patole, Anthony D Keil, Elizabeth Nathan, Dorota Doherty, Meera Esvaran, Karen N Simmer, Patricia Conway
BACKGROUND: Gut development, function and colonisation are impaired in animal models of prematurity with intrauterine growth restriction (IUGR). The effect of Bifidobacterium breve (B. breve) supplementation on faecal bifidobacteria in small for gestational age (SGA: birth weight <10th centile due to IUGR) preterm infants is not known. OBJECTIVE: We compared B. breve M-16V supplementation effect on faecal bifidobacteria in preterm (<33 weeks) SGA versus non-SGA infants in the two arms of our randomised controlled trial...
December 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/26820125/pancreatic-islet-hepatocyte-growth-factor-and-vascular-endothelial-growth-factor-a-signaling-in-growth-restricted-fetuses
#15
Paul J Rozance, William W Hay
Placental insufficiency leads to intrauterine growth restriction (IUGR) and a lifelong risk of developing type 2 diabetes. Impaired islet development in the growth restricted fetus, including decreased β-cell replication, mass, and insulin secretion, is strongly implicated in the pathogenesis of later life type 2 diabetes. Currently, standard medical management of a woman with a pregnancy complicated by placental insufficiency and fetal IUGR is increased fetal surveillance and indicated preterm delivery. This leads to the dual complications of IUGR and preterm birth - both of which may increase the lifelong risk for type 2 diabetes...
November 5, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/26707995/postnatal-high-fat-diet-enhances-ectopic-fat-deposition-in-pigs-with-intrauterine-growth-retardation
#16
Honglin Yan, Ping Zheng, Bing Yu, Jie Yu, Xiangbing Mao, Jun He, Zhiqing Huang, Daiwen Chen
OBJECTIVES: Intrauterine growth retardation (IUGR) and postnatal nutrition are risk factors for adult metabolic syndrome. However, the influences of long-term high-fat diet (HFD) intake on ectopic fat deposition in non-adipose tissues in IUGR pigs remain unclear. The present study was to determine whether HFD consumption would enhance ectopic fat deposition in IUGR pigs. METHODS: At day 28, IUGR and control pigs were fed ad libitum to either a regular diet or a HFD...
December 26, 2015: European Journal of Nutrition
https://www.readbyqxmd.com/read/26701315/a-series-of-38-novel-germline-and-somatic-mutations-of-nipbl-in-cornelia-de-lange-syndrome
#17
M Nizon, M Henry, C Michot, C Baumann, A Bazin, B Bessières, S Blesson, M-P Cordier-Alex, A David, A Delahaye-Duriez, A-L Delezoïde, A Dieux-Coeslier, M Doco-Fenzy, L Faivre, A Goldenberg, V Layet, P Loget, S Marlin, J Martinovic, S Odent, L Pasquier, G Plessis, F Prieur, A Putoux, M Rio, H Testard, J-P Bonnefont, V Cormier-Daire
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features...
May 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26607266/cluster-of-late-preterm-and-term-neonates-with-necrotizing-enterocolitis-symptomatology-descriptive-and-case-control-study
#18
Emmanouela Sdona, Dimitrios Papamichail, Takis Panagiotopoulos, Pagona Lagiou, Ariadne Malamitsi-Puchner
OBJECTIVE: To investigate a necrotizing enterocolitis (NEC) cluster of late preterm and term neonates (gestational age ≥34 weeks). METHODS: We conducted a descriptive and a case-control study. Medical records of neonates with modified Bell stage ≥ IB NEC and matched controls were reviewed, in addition to microbiological and environmental investigation. Study variables included maternal/delivery and neonatal factors, medications, procedures and feeding practices...
October 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/26587234/antioxidant-capacity-and-concentration-of-redox-active-trace-mineral-in-fully-weaned-intra-uterine-growth-retardation-piglets
#19
Hao Zhang, Yue Li, Tian Wang
BACKGROUND: The redox status of intra-uterine growth retardation (IUGR) piglets post-weaning has been poorly studied. METHODS: Newborns from twenty-four sows were weighted, weaned at 21 d and fed a starter diet until sampling. Sampling was done at 14 d post-weaning. A piglet was defined as IUGR when its birth weight was 2 SD below the mean birth weight of the total population. At weaning, eighteen piglets with nearly equal body weight from each category (i.e. IUGR or normal birth weight (NBW) piglets) were selected and then allocated to two treatments, consisted of six replicates with each pen having three piglets...
2015: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/26454700/leucine-improves-growth-performance-of-intrauterine-growth-retardation-piglets-by-modifying-gene-and-protein-expression-related-to-protein-synthesis
#20
Wen Xu, Kaiwen Bai, Jintian He, Weipeng Su, Li Dong, Lili Zhang, Tian Wang
OBJECTIVE: Leucine has been reported to alter the gene expression of proteins, the activation of signaling components, and the fractional rates of protein synthesis in multiple organs of piglets. The aim of this study was to investigate the effects of leucine on molecular mechanisms regulating protein synthesis and degradation in skeletal muscle and determine how these adaptations affect body weight gain in intrauterine growth retardation (IUGR) pigs. METHODS: Thirty-two weaned piglets were randomly assigned to the following four experimental groups (n = 8 per group): normal birth weight, normal birth weight supplemented with leucine, IUGR, and IUGR supplemented with leucine...
January 2016: Nutrition
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