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Growth hormone deficiency

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https://www.readbyqxmd.com/read/28746436/effect-of-intra-hippocampal-injection-of-human-recombinant-growth-hormone-on-synaptic-plasticity-in-the-nucleus-basalis-magnocellularis-lesioned-aged-rats
#1
Maryam Malek, Alireza Sarkaki, Saleh Zahedi-Asl, Ziba Rajaei, Yaghoob Farbood
In this study, we proposed that administration of hippocampal growth hormone in ageing animals with growth hormone deficiency can compensate long-term potentiation and synaptic plasticity in nucleus basalis magnocellularis (NBM)-lesioned rats. Aged male Wistar rats were randomly divided into six groups (seven in each) of sham-operated healthy rats (Cont); NBM-lesioned rats (L); NBM-lesioned rats and intrahippocampal injection of growth hormone vehicle (L + Veh); NBM-lesioned and intrahippocampal injection of growth hormone (10, 20 and 40 µg...
July 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28745468/short-stature-and-high-serum-transaminase-levels-growth-hormone-deficiency-in-a-child-with-becker-muscular-dystrophy
#2
Rossella Gaudino, Claudia Piona, Grazia Morandi, Evelina Maines, Claudia Banzato, Paola Tonin, Mauro Scarpelli, Paolo Cavarzere, Franco Antoniazzi
No abstract text is available yet for this article.
October 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28743298/r-spondin2-a-novel-target-of-nobox-identification-of-variants-in-a-cohort-of-women-with-primary-ovarian-insufficiency
#3
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Brigitte Delemer, Jacques Young, Nadine Binart
BACKGROUND: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI. METHODS: We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor...
July 25, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28740483/a-case-with-spondyloenchondrodysplasia-treated-with-growth-hormone
#4
Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spondylar and metaphyseal dysplasias, and extraskeletal morbidity, such as neurological involvement and immune dysregulation, respectively. We report an affected boy with novel ACP5 mutations, a splice-site mutation (736-2 A>C) and a nonsense mutation (R176X)...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28732535/case-report-rare-skeletal-manifestations-in-a-child-with-primary-hyperparathyroidism
#5
Maulee Hiromi Arambewela, Kamani Danushka Liyanarachchi, Noel P Somasundaram, Aruna S Pallewatte, Gamini L Punchihewa
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...
July 21, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28730965/efficient-non-invasive-plasmid-dna-administration-into-tibialis-cranialis-muscle-of-little-mice
#6
C R Cecchi, E Higuti, E R Lima, D P Vieira, P L Squair, C N Peroni, P Bartolini
An alternative treatment for growth hormone deficiency based on hGH-DNA administration, followed by electro gene transfer, was investigated by injecting the plasmid into surgically exposed or non-exposed quadriceps or tibialis muscle of immunodeficient "little" mice. Previously optimized electrotransfer conditions were also improved via a new combination of high/low voltage pulses: after 3 days, serum hGH was determined. Both groups exhibited similar results: 5.0 ± 2.2 (SD) and 3.5 ± 0.9 ng hGH/ml (P>0...
July 21, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#7
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28724798/hepatic-jak2-protects-against-atherosclerosis-through-circulating-igf-1
#8
Tharini Sivasubramaniyam, Stephanie A Schroer, Angela Li, Cynthia T Luk, Sally Yu Shi, Rickvinder Besla, David W Dodington, Adam H Metherel, Alex P Kitson, Jara J Brunt, Joshua Lopes, Kay-Uwe Wagner, Richard P Bazinet, Michelle P Bendeck, Clinton S Robbins, Minna Woo
Atherosclerosis is considered both a metabolic and inflammatory disease; however, the specific tissue and signaling molecules that instigate and propagate this disease remain unclear. The liver is a central site of inflammation and lipid metabolism that is critical for atherosclerosis, and JAK2 is a key mediator of inflammation and, more recently, of hepatic lipid metabolism. However, precise effects of hepatic Jak2 on atherosclerosis remain unknown. We show here that hepatic Jak2 deficiency in atherosclerosis-prone mouse models exhibited accelerated atherosclerosis with increased plaque macrophages and decreased plaque smooth muscle cell content...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28719905/childhood-onset-adult-growth-hormone-deficiency-clinical-hormonal-and-radiological-assessment-in-a-single-center-in-china
#9
Hongbo Yang, Huijuan Zhu, Xuemin Yan, Hui Pan
BACKGROUND: Although growth hormone deficiency (GHD) is an important issue in pediatric patients, adult GHD (AGHD) is a neglected field of endocrinology in China. The aim of this study is to characterize the clinical, hormonal, and radiological features in childhood-onset AGHD (CO AGHD) in a single center in China and to compare them with counterparts from Japan. METHODS: The medical records of 78 Chinese patients with CO AGHD were reviewed and compared with data from the HypoCCS database study from Japan (N = 69)...
July 18, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28717149/transcriptome-analysis-of-rice-seedling-roots-in-response-to-potassium-deficiency
#10
Xiaoqin Zhang, Hua Jiang, Hua Wang, Jun Cui, Jiahui Wang, Jiang Hu, Longbiao Guo, Qian Qian, Dawei Xue
Rice is one of the most important food crops in the world, and its growth, development, yield, and grain quality are susceptible to a deficiency of the macronutrient potassium (K(+)). The molecular mechanism for K(+) deficiency tolerance remains poorly understood. In this study, K(+) deficient conditions were employed to investigate the resulting changes in the transcriptome of rice seedling roots. Using ribonucleic acid sequencing (RNA-Seq) and analysis, a total of 805 differentially expressed genes were obtained, of which 536 genes were upregulated and 269 were downregulated...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715498/growth-hormone-prescribing-and-initial-bmi-sds-increased-biochemical-adverse-effects-and-costs-in-obese-children-without-additional-gain-in-height
#11
Daniel B Hawcutt, Jennifer Bellis, Victoria Price, Anne Povall, Paul Newland, Paul Richardson, Matthew Peak, Jo Blair
BACKGROUND: Recombinant human growth hormone (rhGH) treatment in children is usually prescribed using actual body weight. This may result in inappropriately high doses in obese children. METHODS: Retrospective audit of all paediatric patients treated with rhGH 2010-14 at a tertiary paediatric hospital in the UK. Change in height SDS and IGF-I SDS during the first year of treatment was stratified by initial BMI SDS in a mixed cohort, and a subgroup of GH deficient (GHD) patients...
2017: PloS One
https://www.readbyqxmd.com/read/28706103/vitamin-d-levels-in-critically-ill-patients-with-acute-kidney-injury-a-protocol-for-a-prospective-cohort-study-vid-aki
#12
Lynda Katherine Cameron, Katie Lei, Samantha Smith, Nanci Leigh Doyle, James F Doyle, Kate Flynn, Nicola Purchase, John Smith, Kathryn Chan, Farida Kamara, Nardos Ghebremedhin Kidane, Lui G Forni, Dominic Harrington, Geeta Hampson, Marlies Ostermann
INTRODUCTION: Acute kidney injury (AKI) affects more than 50% of critically ill patients. The formation of calcitriol, the active vitamin D metabolite, from the main inactive circulating form, 25-hydroxyvitamin D (25(OH)D), occurs primarily in the proximal renal tubules. This results in a theoretical basis for reduction in levels of calcitriol over the course of an AKI. Vitamin D deficiency is highly prevalent in critically ill adults, and has been associated with increased rates of sepsis, longer hospital stays and increased mortality...
July 12, 2017: BMJ Open
https://www.readbyqxmd.com/read/28695822/arid1b-haploinsufficient-mice-reveal-neuropsychiatric-phenotypes-and-reversible-causes-of-growth-impairment
#13
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs We Santen, Maria Chahrour, Hao Zhu
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28694433/antidepressant-effect-of-taurine-in-chronic-unpredictable-mild-stress-induced-depressive-rats
#14
Gao-Feng Wu, Shuang Ren, Ri-Yi Tang, Chang Xu, Jia-Qi Zhou, Shu-Mei Lin, Ying Feng, Qun-Hui Yang, Jian-Min Hu, Jian-Cheng Yang
Depression, a psychiatric and dysthymic disorder, severely affects the learning, work and life quality. The main pathogenesis of depression is associated with central nervous system (CNS) dysfunction. Taurine has been demonstrated to exert protective effects on the brain development and can improve learning ability and memory. Our study investigated the antidepressant-like effects of taurine pre-treatment by examining the changes in depression-like behavior, hormones, neurotransmitters, inflammatory factors and neurotrophic factors in the hippocampus of a chronic unpredictable mild stress (CUMS)-induced depressive rat model...
July 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28693121/impact-of-discontinuation-of-growth-hormone-treatment-on-lipids-and-weight-status-in-adolescents
#15
Juliane Rothermel, Nina Lass, Christina Bosse, Thomas Reinehr
BACKGROUND: While the main role of growth hormone (GH) replacement therapy in children is to promote linear growth, GH has also an effect on lipids and body composition. There is an ongoing discussion whether discontinuation of GH treatment is associated with deterioration of lipids. METHODS: We analyzed weight status [as body mass index-standard deviation score (BMI-SDS)], insulin like growth factor (IGF)-1, triglycerides, total, low-density liporptoein (LDL)- and high-density lipoprotein (HDL)-cholesterol at the end of GH treatment and in mean 6 months later in 90 adolescents (53 with GH deficiency, 16 with Turner syndrome [TS] and 21 born small-for-gestational age [SGA])...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28690993/2q37-deletion-syndrome-confirmed-by-high-resolution-cytogenetic-analysis
#16
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690991/effect-of-growth-hormone-treatment-on-children-with-idiopathic-short-stature-and-idiopathic-growth-hormone-deficiency
#17
Minji Im, Yong-Dae Kim, Heon-Seok Han
PURPOSE: There are inconsistencies in the results reported in a small number of previous studies into growth hormone (GH) treatment in Korean children with idiopathic short stature (ISS) and idiopathic growth hormone deficiency (IGHD). Thus, the authors retrospectively compared the effects of GH in ISS and IGHD. METHODS: From the medical records of 26 ISS and 30 IGHD children, auxological and biochemical changes including chronologic age (CA), bone age (BA), height standard deviation score (HT-SDS), predicted adult height (PAH), midparental height (MPH), insulin-like growth factor-1 (IGF-1), and insulin-like growth factor binding protein-3 (IGFBP-3) were compared...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690985/metabolic-syndrome-induced-by-anticancer-treatment-in-childhood-cancer-survivors
#18
REVIEW
Hee Won Chueh, Jae Ho Yoo
The number of childhood cancer survivors is increasing as survival rates improve. However, complications after treatment have not received much attention, particularly metabolic syndrome. Metabolic syndrome comprises central obesity, dyslipidemia, hypertension, and insulin resistance, and cancer survivors have higher risks of cardiovascular events compared with the general population. The mechanism by which cancer treatment induces metabolic syndrome is unclear. However, its pathophysiology can be categorized based on the cancer treatment type administered...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28690912/atypical-skeletal-manifestations-of-rickets-in-a-familial-hypocalciuric-hypercalcemia-patient
#19
Bo Wu, Ou Wang, Yan Jiang, Mei Li, Xiaoping Xing, Weibo Xia
Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations...
2017: Bone Research
https://www.readbyqxmd.com/read/28689597/other-extrahepatic-manifestations-of-hepatitis-c-virus-infection-pulmonary-idiopathic-thrombocytopenic-purpura-nondiabetes-endocrine-disorders
#20
REVIEW
Daniel Segna, Jean-François Dufour
Extrahepatic manifestations of hepatitis C virus (HCV) infection are a rare but serious condition. This article summarizes the current literature on the association between HCV and endocrine and pulmonary manifestations, as well as idiopathic thrombocytopenic purpura (ITP). HCV may directly infect extrahepatic tissues and interact with the immune system predisposing for obstructive and interstitial lung disease, ITP, autoimmune thyroiditis, infertility, growth hormone and adrenal deficiencies, osteoporosis, and potentially lung and thyroid cancers...
August 2017: Clinics in Liver Disease
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