keyword
https://read.qxmd.com/read/37283093/the-benefit-of-rhgh-therapy-in-a-chinese-child-with-12q14-microdeletion-syndrome-a-case-report
#21
Yue Ping, Linyin Luo, Yun Chen, Yihua Ge, Yiping Shen, Hao Zhou
OBJECTIVES: The 12q14 microdeletion syndrome is a rare genetic condition characterized by intrauterine growth restriction, proportionate short stature, failure to thrive, and intellectual disability. Few reports have discussed the therapeutic aspect of patients with 12q14 microdeletion syndrome. Herein, we report the first case of 12q14 microdeletion patient treated with rhGH without growth hormone deficiency. CASE PRESENTATION: The patient presented with feeding difficulties during infancy, failure to thrive, intellectual disability and subtle dysmorphic facial features...
June 8, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/37236674/unusual-association-of-torticollis-with-russell-silver-syndrome
#22
JOURNAL ARTICLE
Mahesh Kaggare Puttaraju, Bhari Sharanesha Manjunatha, Karthikeya Patil, Lakshminarayana Surya Kaiyoor
Russell-Silver syndrome is a unique disorder characterised by intrauterine growth retardation before and after birth, large-sized head, a triangular facial appearance, a protuberant forehead, asymmetry and feeding difficulties. This extensive spectrum of features varies in both occurrence and gravity from one individual to another. Congenital muscular torticollis or commonly known as wry neck is one of the common presenting complaints in the outpatient department. It is characterised by rotational deformity of the cervical spine and consequently secondary tilting of the head...
May 26, 2023: BMJ Case Reports
https://read.qxmd.com/read/37202530/lipid-profile-after-omega-3-supplementation-in-neonates-with-intrauterine-growth-retardation-a-randomized-controlled-trial
#23
JOURNAL ARTICLE
Mai Elsheikh, Doaa El Amrousy, Heba El-Mahdy, Heba Dawoud, Ahmed Harkan, Amany El-Barky
BACKGROUND: Neonates with intrauterine growth restriction (IUGR) have a high lipid profile that predisposes them to cardiovascular disease later in life. We aimed to evaluate the effect of omega 3 supplementation on serum leptin level, lipid profile, and growth in neonates with IUGR. METHODS: This clinical trial was conducted on 70 full-term neonates with IUGR. Neonates were randomly divided into two equal groups; the treatment group: received omega 3 supplement (40 mg/kg/day) for 2 weeks after the establishment of full feeding, and the control group, who were followed up to full feeding without any supplementation...
May 18, 2023: Pediatric Research
https://read.qxmd.com/read/37174509/effects-of-equol-supplementation-on-growth-performance-redox-status-intestinal-health-and-skeletal-muscle-development-of-weanling-piglets-with-intrauterine-growth-retardation
#24
JOURNAL ARTICLE
Yong Zhang, Jingchang Ren, Li Chen, Honglin Yan, Tiande Zou, Hongfu Zhang, Jingbo Liu
Animals with intrauterine growth retardation (IUGR) usually undergo injured postnatal growth and development during the early period after birth. Equol (Eq), an isoflavan produced by gut bacteria in response to daidzein intake, has various health benefits. Therefore, the objective of this study was to evaluate whether Eq supplementation can influence the growth performance, redox status, intestinal health and skeletal muscle development of weanling piglets with IUGR. A total of 10 normal-birth-weight (NBW) newborn female piglets and 20 newborn female piglets with IUGR were selected...
April 26, 2023: Animals: An Open Access Journal From MDPI
https://read.qxmd.com/read/37165482/maternally-inherited-autosomal-dominant-plag-1-related-silver-russell-syndrome-in-a-fetus-with-intra-uterine-growth-restriction
#25
Wing Ting Tse, Charlotte Bass, Leo Gurney, Esther Kinning
We report a case of maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome (SRS) in a fetus with IUGR and a mother who had growth and feeding problems in early life, dextrocardia and an atrio-ventricular septal defect. Amniocentesis was performed due to marked intra-uterine growth restriction (IUGR). The array was normal. Whole exome sequencing (WES) revealed a maternally inherited heterozygous likely pathogenic variant in PLAG1 (NM_002655.3): c.402delT p.(Gly135Aspfs*94). This variant has not been reported previously...
June 2023: Prenatal Diagnosis
https://read.qxmd.com/read/37072047/the-human-placenta-new-perspectives-on-its-formation-and-function-during-early-pregnancy
#26
JOURNAL ARTICLE
Graham J Burton, Eric Jauniaux
The placenta has evolved to support the development of the embryo and fetus during the different intrauterine periods of life. By necessity, its development must precede that of the embryo. There is now evidence that during embryogenesis and organogenesis, the development of the human placenta is supported by histotrophic nutrition secreted from endometrial glands rather than maternal blood. These secretions provide a plentiful supply of glucose, lipids, glycoproteins and growth factors that stimulate rapid proliferation and differentiation of the villous trophoblast...
April 26, 2023: Proceedings. Biological Sciences
https://read.qxmd.com/read/36976210/a-paternal-fish-oil-diet-preconception-reduces-lung-inflammation-in-a-toxicant-driven-murine-model-of-new-bronchopulmonary-dysplasia
#27
JOURNAL ARTICLE
Jelonia T Rumph, Victoria R Stephens, Sharareh Ameli, LaKendria K Brown, Kayla J Rayford, Pius N Nde, Kevin G Osteen, Kaylon L Bruner-Tran
New bronchopulmonary dysplasia (BPD) is a neonatal disease that is theorized to begin in utero and manifests as reduced alveolarization due to inflammation of the lung. Risk factors for new BPD in human infants include intrauterine growth restriction (IUGR), premature birth (PTB) and formula feeding. Using a mouse model, our group recently reported that a paternal history of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) exposure increased his offspring's risk of IUGR, PTB, and new BPD. Additionally, formula supplementation of these neonates worsened the severity of pulmonary disease...
February 27, 2023: Marine Drugs
https://read.qxmd.com/read/36931751/high-dietary-iron-in-western-diet-fed-male-rats-causes-pancreatic-islet-injury-and-acute-pancreatitis
#28
JOURNAL ARTICLE
Viviane Delghingaro-Augusto, Ayumi Hosaka, Suzanne Estaphan, Alice Richardson, Jane E Dahlstrom, Christopher J Nolan
BACKGROUND: High dietary iron has been linked to an increased type 2 diabetes risk. We have previously shown that intrauterine growth restriction (IUGR) and feeding a Western diet (WD) to male Sprague-Dawley rats independently, as well as together, cause pancreatic islet inflammation, fibrosis, and hemosiderosis. OBJECTIVES: To investigate whether iron has a role in the pathogenesis of this inflammatory islet injury caused by IUGR and WD intake. METHODS: Male Sprague-Dawley offspring of bilateral uterine artery ligated (IUGR) and sham-operated (Sham) dams, fostered to nonoperated dams, were fed a WD [45% sucrose, 19...
March 2023: Journal of Nutrition
https://read.qxmd.com/read/36871838/microrna-and-mrna-sequencing-analyses-reveal-key-hepatic-metabolic-and-signaling-pathways-responsive-to-maternal-undernutrition-in-full-term-fetal-pigs
#29
JOURNAL ARTICLE
Feng Wang, Chaolai Man, Xiaoqiu Wang, Jack Odle, Christian Maltecca, Xi Lin
Maternal undernutrition is highly prevalent in developing countries, leading to severe fetus/infant mortality, intrauterine growth restriction, stunting, and severe wasting. However, the potential impairments of maternal undernutrition to metabolic pathways in offspring are not defined completely. In this study, two groups of pregnant domestic pigs received nutritionally balanced gestation diets with or without 50% feed intake restriction from 0 to 35 gestation days and 70% from 35 to 114 gestation days. Full-term fetuses were collected via C-section on day 113/114 of gestation...
March 3, 2023: Journal of Nutritional Biochemistry
https://read.qxmd.com/read/36691917/novel-arthrogryposis-multiplex-congenita-presentation-in-a-newborn-with-pierpont-syndrome
#30
JOURNAL ARTICLE
Joana Pereira-Nunes, Ana Vilan, Ana Grangeia, Renata d'Oliveira
Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, and abnormal fat distribution in distal limbs. Only few cases were previously documented. We report a case of a term male neonate admitted to the neonatal intensive care unit because of feeding difficulties. Intrauterine growth restriction, microcephaly, and bilateral equinovarus foot were diagnosed in the second trimester, and prenatal array comparative genomic hybridization showed no abnormality...
2023: Journal of Investigative Medicine High Impact Case Reports
https://read.qxmd.com/read/36637540/the-effect-of-drip-versus-intermittent-feeding-on-splanchnic-oxygenation-in-preterm-infants-with-intrauterine-growth-restriction-a-prospective-randomized-trial
#31
RANDOMIZED CONTROLLED TRIAL
Ozge Surmeli Onay, Melih Velipasaoğlu, Merve Tutal, Tevhide Derya Sarılar, Adviye Cakıl Saglık, Muzaffer Bilgin, Ozge Aydemir, Tugba Barsan Kaya, Huseyin Mete Tanır, Ayşe Neslihan Tekin
The main purpose of this study was to evaluate the impact of drip versus intermittent feeding on splanchnic oxygenation in preterm infants with intrauterine growth restriction. The second objective was to assess the relationship between fetal splanchnic circulation parameters and splanchnic oxygenation during the first week of life. A single-center, prospective, randomized study with 51 fetuses/infants was conducted. Fetal Doppler measurements including umbilical artery, middle cerebral artery, and superior mesenteric artery (SMA) were recorded in IUGR fetuses...
March 2023: European Journal of Pediatrics
https://read.qxmd.com/read/36579338/underdevelopment-of-gut-microbiota-in-failure-to-thrive-infants-of-up-to-12-months-of-age
#32
JOURNAL ARTICLE
Mei Zhang, Dan Miao, Qi Ma, Tao Chen, Tuanmei Wang, Shuyuan Yan, Wendan Zhu, Fan Zhou, Jun He, Xiaoni Kuang
Laboratory and clinical studies have revealed the importance of gut microbiota in children with severe pediatric pathological conditions such as severe acute malnutrition (SAM); however, under relatively milder conditions such as, failure to thrive (FTT), the role of the gut microbiota remains poorly characterized. Here, we analyzed stool samples from 54 subjects with a clinical diagnosis of failure to thrive (FTT), 49 preterm subjects with corrected normal growth (NFTT-pre), and 49 healthy subjects (NFTT) between 3-12 months of age using 16S rRNA gene sequencing...
2022: Frontiers in Cellular and Infection Microbiology
https://read.qxmd.com/read/36439828/dietary-bile-acid-supplementation-alters-plasma-biochemical-and-hormone-indicators-intestinal-digestive-capacity-and-microbiota-of-piglets-with-normal-birth-weight-and-intrauterine-growth-retardation
#33
JOURNAL ARTICLE
Yang Liu, Md Abul Kalam Azad, Qian Zhu, Zugong Yu, Xiangfeng Kong
Piglets with intrauterine growth retardation (IUGR) have poor small intestinal morphology and function, resulting in impaired digestion and absorption of nutrients and lower growth performance. Bile acids (BA) are important in regulating digestive enzyme activity, digestion and absorption of lipids, intestinal development, and protecting the liver. The present study aimed to investigate the effects of dietary BA supplementation on plasma biochemical and hormone indicators, intestinal morphology and function, and microbial community in piglets with normal birth weight (NBW) and IUGR...
2022: Frontiers in Microbiology
https://read.qxmd.com/read/36421439/dietary-l-arginine-or-n-carbamylglutamate-alleviates-colonic-barrier-injury-oxidative-stress-and-inflammation-by-modulation-of-intestinal-microbiota-in-intrauterine-growth-retarded-suckling-lambs
#34
JOURNAL ARTICLE
Hao Zhang, Yi Zheng, Xia Zha, Yi Ma, Xiaoyun Liu, Mabrouk Elsabagh, Hongrong Wang, Mengzhi Wang
Our previous studies have revealed that dietary N-carbamylglutamate (NCG) and L-arginine (Arg) supplementation improves redox status and suppresses apoptosis in the colon of suckling Hu lambs with intrauterine growth retardation (IUGR). However, no studies have reported the function of Arg or NCG in the colonic microbial communities, barrier function, and inflammation in IUGR-suckling lambs. This work aimed to further investigate how dietary Arg or NCG influences the microbiota, barrier function, and inflammation in the colon of IUGR lambs...
November 15, 2022: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/36370127/seasonal-and-temporal-variation-in-the-placenta-during-melatonin-supplementation-in-a-bovine-compromised-pregnancy-model
#35
JOURNAL ARTICLE
Zully E Contreras-Correa, Taylor Cochran, Abbie Metcalfe, Derris D Burnett, Caleb O Lemley
Compromised pregnancies result in a poorly functioning placenta restricting the amount of oxygen and nutrient supply to the fetus resulting in intrauterine growth restriction (IUGR). Supplementing dietary melatonin during a compromised pregnancy increased uteroplacental blood flow and prevented IUGR in a seasonal-dependent manner. The objectives were to evaluate seasonal melatonin-mediated changes in temporal alterations of the bovine placental vascularity and transcript abundance of clock genes, angiogenic factors, and nutrient sensing genes in 54 underfed pregnant Brangus heifers (Fall, n = 29; Summer, n = 25)...
December 1, 2022: Journal of Animal Science
https://read.qxmd.com/read/36362517/temple-syndrome-clinical-findings-body-composition-and-cognition-in-15-patients
#36
JOURNAL ARTICLE
Alicia F Juriaans, Gerthe F Kerkhof, Eva F Mahabier, Theo C J Sas, Nitash Zwaveling-Soonawala, Robbert N H Touwslager, Joost Rotteveel, Anita C S Hokken-Koelega
BACKGROUND: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with TS14 often experience delay in diagnosis, which has adverse effects on their health. TS14 is often characterized as either Prader-Willi-like, Silver-Russell-like or as a Silver-Russell spectrum disorder...
October 25, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/36335483/a-silver-russell-szindr%C3%A3-ma-diagnosztikai-l%C3%A3-p%C3%A3-sei-%C3%A3-s-ter%C3%A3-pi%C3%A3-s-lehet%C3%A5-s%C3%A3-gei-egy-csal%C3%A3-di-halmoz%C3%A3-d%C3%A3-st-mutat%C3%A3-eset-kapcs%C3%A3-n
#37
JOURNAL ARTICLE
Árpád Ferenc Kovács, Nikolett Jusztina Beniczky, Rita Ágnes Bertalan, Ágnes Sallai
Characterized by both intrauterine and postnatal growth retardation, and consequent small stature, Silver-Russell syndrome is associated with typical minor anomalies (relative macrocephalia, protruding forehead, downturned corners of mouth, micrognathia, low set ears, facial, skeletal and limb asymmetry) and findings involving mainly the endocrine system. The molecular background of the syndrome is complex, but it is most often caused by the involvement of critical regions of chromosome 11 and/or chromosome 7...
November 6, 2022: Orvosi Hetilap
https://read.qxmd.com/read/36268036/case-report-a-novel-de-novo-igf2-missense-variant-in-a-finnish-patient-with-silver-russell-syndrome
#38
Petra Loid, Marita Lipsanen-Nyman, Sirpa Ala-Mello, Katariina Hannula-Jouppi, Juha Kere, Outi Mäkitie, Mari Muurinen
Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties in early childhood, characteristic facial features, and body asymmetry. The molecular cause most commonly relates to hypomethylation of the imprinted 11p15.5 IGF2 / H19 domain but remains unknown in about 40% of the patients. Recently, heterozygous paternally inherited pathogenic variants in IGF2 , the gene encoding insulin-like growth factor 2 (IGF2), have been identified in patients with SRS...
2022: Frontiers in Pediatrics
https://read.qxmd.com/read/36243380/effects-of-maternal-hf-diet-and-absence-of-trpc1-gene-on-mouse-placental-growth-and-fetal-intrauterine-growth-retardation-iugr
#39
JOURNAL ARTICLE
Kate Claycombe-Larson, Brij Singh, Amy N Bundy, Dale Brunelle, Michael R Bukowski, James N Roemmich
Placental tissue intracellular calcium (Ca2+ ) regulates placental development and growth. Maternal high-fat diet (HFD) results in placental lipid accumulation, increased inflammation, reduced nutrient transport expression and intrauterine growth restriction (IUGR). Currently, whether maternal HFD differentially affects placental and fetal growth and development under reduced Ca2+ influx is not yet known. We hypothesized that maternal HFD feeding decreases placental growth and development resulting in IUGR and that reduction of Ca2+ influx in the placenta worsens maternal HFD-induced placental dysfunction and IUGR...
October 12, 2022: Journal of Nutritional Biochemistry
https://read.qxmd.com/read/36237944/road-to-a-rare-diagnosis-description-of-novel-unbalanced-translocation-causing-partial-trisomy-17p
#40
Melab Musabi, Ayman Saker, Jessi Baer, Peter Wang, Anahita Mohseni Meybodi, Chitra Prasad, Soume Bhattacharya
Trisomy 17 is a rare chromosomal disorder. Existing literature on the topic is limited and mostly refer to mosaic Trisomy 17 cases. Our report summarizes the 70-day clinical course of a late preterm neonate with partial Trisomy 17p karyotype 46,XY,der(14)t(14;17)(p11.1;p11.2) dpat. Trisomy 17 due to unbalanced translocation is rare, and our case elaborates the clinical presentation with intestinal malfunction without any anatomical pathology and urethral diverticulum and the ethical dilemma in decision-making...
October 2022: Clinical Case Reports
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