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Growth hormone deficiency

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https://www.readbyqxmd.com/read/27915352/baseline-characteristics-and-gender-differences-in-prepubertal-children-treated-with-growth-hormone-in-europe-usa-and-japan-25-years-kigs%C3%A2-experience-1987-2012-and-review
#1
Michael B Ranke, Anders Lindberg, Toshiaki Tanaka, Cecilia Camacho-Hübner, David B Dunger, Mitchell E Geffner
BACKGROUND: Information about disease-specific and gender-associated differences over longer time of short children treated with recombinant human growth hormone is missing. METHODS: We analyzed data at growth hormone (GH) start in prepubertal children diagnosed with idiopathic GH deficiency (IGHD), congenital GHD, acquired GHD, idiopathic short stature (ISS), and born small for gestational age (SGA) enrolled (1987-2012) in the Pfizer International Growth Study (KIGS®) from Europe, USA, and Japan...
December 3, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27906181/stat6-deficiency-ameliorates-graves-disease-severity-by-suppressing-thyroid-epithelial-cell-hyperplasia
#2
Xuechao Jiang, Bingbing Zha, Xiaoming Liu, Ronghua Liu, Jun Liu, Enyu Huang, Tingting Qian, Jiajing Liu, Zhiming Wang, Dan Zhang, Luman Wang, Yiwei Chu
Signal transducer and activator of transcription 6 (STAT6) is involved in epithelial cell growth. However, little is known regarding the STAT6 phosphorylation status in Graves' disease (GD) and its role in thyroid epithelial cells (TECs). In this study, we found that STAT6 phosphorylation (p-STAT6) was significantly increased in TECs from both GD patients and experimental autoimmune Graves' disease mice and that STAT6 deficiency ameliorated GD symptoms. Autocrine IL-4 signalling in TECs activated the phosphorylation of STAT6 via IL-4 R engagement, and the downstream targets of STAT6 were Bcl-xL and cyclin D1...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27904677/an-engineered-fgf21-variant-ly2405319-can-prevent-non-alcoholic-steatohepatitis-by-enhancing-hepatic-mitochondrial-function
#3
Ju Hee Lee, Yea Eun Kang, Joon Young Chang, Ki Cheol Park, Hyeon-Woo Kim, Jung Tae Kim, Hyun Jin Kim, Hyon-Seung Yi, Minho Shong, Hyo Kyun Chung, Koon Soon Kim
Non-alcoholic fatty liver disease (NAFLD) is a prevalent obesity-related disease that affects large populations throughout the world due to excessive calorie intake and an increasingly sedentary lifestyle. Fibroblast growth factor 21 (FGF21) has recently emerged as a promising therapeutic candidate for the treatment of obesity and diabetes. FGF21 is a starvation-induced pleiotropic hormone with various beneficial metabolic effects, and pharmacological treatment in rodents has been shown to improve insulin sensitivity and decrease simple fatty liver disease...
2016: American Journal of Translational Research
https://www.readbyqxmd.com/read/27886559/ectopic-expression-of-ga-2-oxidase-6-from-rapeseed-brassica-napus-l-causes-dwarfism-late-flowering-and-enhanced-chlorophyll-accumulation-in-arabidopsis-thaliana
#4
Jindong Yan, Xiaoying Liao, Reqing He, Ming Zhong, Panpan Feng, Xinmei Li, Dongying Tang, Xuanming Liu, Xiaoying Zhao
Gibberellins (GAs) are endogenous hormones that play an important role in higher plant growth and development. GA2-oxidase (GA2ox) promotes catabolism and inactivation of bioactive GAs or their precursors. In this study, we identified the GA2-oxidase gene, BnGA2ox6, and found it to be highly expressed in the silique and flower. Overexpression of BnGA2ox6 in Arabidopsis resulted in GA-deficiency symptoms, including inhibited elongation of the hypocotyl and stem, delayed seed germination, and late flowering. BnGA2ox6 overexpression reduced silique growth, but had no effect on seed development...
November 15, 2016: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#5
Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27884013/guidelines-for-growth-hormone-and-insulin-like-growth-factor-i-treatment-in-children-and-adolescents-growth-hormone-deficiency-idiopathic-short-stature-and-primary-insulin-like-growth-factor-i-deficiency
#6
Adda Grimberg, Sara A DiVall, Constantin Polychronakos, David B Allen, Laurie E Cohen, Jose Bernardo Quintos, Wilma C Rossi, Chris Feudtner, Mohammad Hassan Murad
BACKGROUND/AIMS: On behalf of the Drug and Therapeutics, and Ethics Committees of the Pediatric Endocrine Society, we sought to update the guidelines published in 2003 on the use of growth hormone (GH). Because idiopathic short stature (ISS) remains a controversial indication, and diagnostic challenges often blur the distinction between ISS, GH deficiency (GHD), and primary IGF-I deficiency (PIGFD), we focused on these three diagnoses, thereby adding recombinant IGF-I therapy to the GH guidelines for the first time...
November 25, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27883040/effects-of-meja-on-arabidopsis-metabolome-under-endogenous-ja-deficiency
#7
Jingjing Cao, Mengya Li, Jian Chen, Pei Liu, Zhen Li
Jasmonates (JAs) play important roles in plant growth, development and defense. Comprehensive metabolomics profiling of plants under JA treatment provides insights into the interaction and regulation network of plant hormones. Here we applied high resolution mass spectrometry based metabolomics approach on Arabidopsis wild type and JA synthesis deficiency mutant opr3. The effects of exogenous MeJA treatment on the metabolites of opr3 were investigated. More than 10000 ion signals were detected and more than 2000 signals showed significant variation in different genotypes and treatment groups...
November 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27882938/neutral-sphingomyelinase-smpd3-deficiency-disrupts-the-golgi-secretory-pathway-and-causes-growth-inhibition
#8
Wilhelm Stoffel, Ina Hammels, Bitta Jenke, Erika Binczek, Inga Schmidt-Soltau, Susanne Brodesser, Astrid Schauss, Julia Etich, Juliane Heilig, Frank Zaucke
Systemic loss of neutral sphingomyelinase (SMPD3) in mice leads to a novel form of systemic, juvenile hypoplasia (dwarfism). SMPD3 deficiency in mainly two growth regulating cell types contributes to the phenotype, in chondrocytes of skeletal growth zones to skeletal malformation and chondrodysplasia, and in hypothalamic neurosecretory neurons to systemic hypothalamus-pituitary-somatotropic hypoplasia. The unbiased smpd3-/- mouse mutant and derived smpd3-/- primary chondrocytes were instrumental in defining the enigmatic role underlying the systemic and cell autonomous role of SMPD3 in the Golgi compartment...
November 24, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27881164/administration-of-anti-receptor-activator-of-nuclear-factor-kappa-b-ligand-rankl-antibody-for-the-treatment-of-osteoporosis-was-associated-with-amelioration-of-hepatitis-in-a-female-patient-with-growth-hormone-deficiency-a-case-report
#9
Ayumu Takeno, Masahiro Yamamoto, Masakazu Notsu, Toshitsugu Sugimoto
BACKGROUND: Growth hormone deficiency (GHD) is associated with non-alcoholic fatty liver disease (NAFLD). A recent animal study showed that hepatocyte-specific receptor activator of nuclear factor-kappa B (RANK) knockout mice had significantly lower liver fat content compared with control mice concomitant with a decrease in production of inflammatory cytokines such as tumor necrosis factor-α (TNF-α) from hepatocytes and kupffer cells. The role of anti-RANK ligand (RANKL) antibody for osteoporosis on hepatitis in patients with aGHD is still unknown...
November 24, 2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27878771/growth-hormone-deficiency-and-hypopituitarism-in-adults-after-complicated-mild-traumatic-brain-injury
#10
Stefania Giuliano, Serafina Talarico, Lucia Bruno, Francesco Beniamino Nicoletti, Claudio Ceccotti, Antonino Belfiore
PURPOSE: Traumatic brain injury is considered the main cause of hypopituitarism in adults, and GH deficiency appears to be the most frequent pituitary deficit. Most of the available studies have included all degrees of severity of trauma. We aimed to assess pituitary function and GH deficiency in adult patients at different time lengths after complicated mild TBI according to Glasgow Coma Scale. We also aimed to evaluate whether mild TBI patients with GH deficiency had developed alterations in the glycolipid profile...
November 23, 2016: Endocrine
https://www.readbyqxmd.com/read/27872046/pituitary-dysfunction-after-traumatic-brain-injury-are-there-definitive-data-in-children
#11
REVIEW
Paula Casano-Sancho
In the past decade, several studies in adults and children have described the risk of pituitary dysfunction after traumatic brain injury (TBI). As a result, an international consensus statement recommended follow-up on the survivors. This paper reviews published studies regarding hypopituitarism after TBI in children and compares their results. The prevalence of hypopituitarism ranges from 5% to 57%. Growth hormone (GH) and ACTH deficiency are the most common, followed by gonadotropins and thyroid-stimulating hormone...
November 21, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27867878/prevalence-of-hypothalamo-pituitary-dysfunction-in-patients-of-traumatic-brain-injury
#12
K V S Hari Kumar, M N Swamy, M A Khan
BACKGROUND: Traumatic brain injury (TBI) is common in young soldiers of armed forces leading to significant morbidity and mortality. We studied the prevalence of hypopituitarism following TBI and its association with trauma severity. MATERIALS AND METHODS: We conducted a 12-month prospective study of 56 TBI patients for the presence of hormonal dysfunction. Hormonal parameters were estimated during the early phase (0-10 days posttraumatically) and after 6 and 12 months...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27867396/challenges-in-the-diagnosis-and-management-of-growth-hormone-deficiency-in-india
#13
REVIEW
Mathew John, Ekaterina Koledova, Kanakatte Mylariah Prasanna Kumar, Harshal Chaudhari
In clinical practice, every year approximately 150,000 children are referred with short stature (SS) based on a cut-off of fifth percentile. The most important endocrine and treatable cause of SS is growth hormone deficiency (GHD). The lack of reliable data on the prevalence of GHD in India limits estimation of the magnitude of this problem. The diagnosis and treatment of GHD are hurdled with various challenges, restricting the availability of growth hormone (GH) therapy to only a very limited segment of the children in India...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27857044/the-impact-of-the-d3-growth-hormone-receptor-d3-ghr-polymorphism-on-the-therapeutic-effect-of-growth-hormone-replacement-in-children-with-idiopathic-growth-hormone-deficiency-in-poland
#14
(no author information available yet)
OBJECTIVES: The human growth hormone receptor (GHR) exon 3 deletion (d3) polymorphism has been reported to be associated with the responsiveness to growth hormone (GH) therapy. This study aimed to: (a) assess the frequency of this polymorphism in a group of Polish children with idiopathic growth hormone deficiency (IGHD) and (b) analyze their response to GH therapy. METHODS: The study group consisted of 67 prepubertal children with IGHD. The control group was composed of 150 Caucasian newborns from whom umbilical cord blood samples were drawn...
September 18, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27848940/parenteral-iron-polymaltose-changes-i-c-terminal-fgf23-ratios-in-iron-deficiency-but-not-in-dialysis-patients
#15
S-J Tan, S Satake, E R Smith, N D Toussaint, T D Hewitson, S G Holt
BACKGROUND/OBJECTIVES: Iron and phosphate are both vital to many biological cellular processes with central roles in energy metabolism, cellular proliferation and nucleic acid synthesis. Regulatory pathways in some of these metabolic pathways may intersect at fibroblast growth factor 23 (FGF23), a major phosphate regulatory hormone. Iron is reported to induce hypophosphataemia in rare cases, and recent reports suggest that iron deficiency may upregulate FGF23 synthesis by mechanisms involving hypoxia-inducible factor 1α (HIF1α)...
November 16, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27835910/growth-hormone-replacement-therapy-reduces-risk-of-cancer-in-adult-with-growth-hormone-deficiency-a-meta-analysis
#16
Zhanzhan Li, Qin Zhou, Yanyan Li, Jun Fu, Xinqiong Huang, Liangfang Shen
The risk of growth hormone on cancer in adult with growth hormone deficiency remains unclear. We carried out a meta-analysis to evaluate the risk of cancer in adult with and without growth hormone replacement therapy. We searched PubMed, Web of Science, China National Knowledge Infrastructure, and WanFang databases up to 31 July 2016 for eligible studies. Pooled risk ratio (RR) with 95% confidence interval (CI) was calculated using fixed-or random-effects models if appropriate. The Newcastle-Ottawa Scale was used to assess the study quality...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27827441/functional-roles-of-arabidopsis-ckrc2-yucca8-gene-and-the-involvement-of-pif4-in-the-regulation-of-auxin-biosynthesis-by-cytokinin
#17
Dong-Wei Di, Lei Wu, Li Zhang, Chen-Wei An, Tian-Zi Zhang, Pan Luo, Huan-Huan Gao, Verena Kriechbaumer, Guang-Qin Guo
Auxin and cytokinin (CK) are both important hormones involved in many aspects of plant growth and development. However, the details of auxin biosynthesis and the interaction between auxin and CK are still unclear. Isolation and characterization of an auxin deficient mutant cytokinin induced root curling 2 (ckrc2) in this work reveal that CKRC2 encodes a previously identified member of YUCCA (YUC) flavin monooxygenase-like proteins (YUC8). Our results show that, like other YUCs, CKRC2/YUC8 is a rate-limiting enzyme for catalyzing the conversion of indole-3-pyruvic acid (IPyA) to indole-3-acetic acid (IAA), acting downstream of CKRC1/TAA1 in the IPyA pathway...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27826644/novel-faces-of-fibroblast-growth-factor-23-fgf23-iron-deficiency-inflammation-insulin-resistance-left-ventricular-hypertrophy-proteinuria-and-acute-kidney-injury
#18
Mehmet Kanbay, Marc Vervloet, Mario Cozzolino, Dimitrie Siriopol, Adrian Covic, David Goldsmith, Yalcin Solak
FGF23 is a hormone that appears as the core regulator of phosphate metabolism. Great deal of data has accumulated to demonstrate increased FGF23 secretion from the bone to compensate for even subtle increases in serum phosphorus long before intact PTH. However, recent evidence points to the fact that actions and interactions of FGF23 are not limited solely to phosphate metabolism. FGF23 may be implicated in iron metabolism and erythropoiesis, inflammation, insulin resistance, proteinuria, acute kidney injury and left ventricular hypertrophy...
November 9, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27825409/clinical-features-of-pituitary-stalk-interruption-syndrome-in-114-cases
#19
Bai-Yu Han, Qian Zhang, Le-Le Li, Qing-Hua Guo, Cheng-Zhi Wang, Li Cang, Nan Jin, Fang Chen, Ling Zhao, Jia Cui, Xiu-Lian Gu, Fang-Ling Ma, Sai-Chun Zhang, Yi-Ming Mu, Jing-Tao Dou
Objective To analyze the clinical characteristics of pituitary stalk interruption syndrome(PSIS). Methods The clinical data including clinical manifestations,laboratory tests,and imaging findings of 114 PSIS patients in our hospital were retrospectively analyzed. Results Of these 114 PSIS patients,102 cases (89.4%) were male. The average age was 21.1?6.1 years. A history of breech delivery was documented in 91 cases (91.9%). Short stature was found in 89 cases (71.8%) and bone age delayed (6.1?5.1) years. Secondary sex characteristics were poor or undeveloped in most patients...
October 10, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/27820671/contribution-of-lhx4-mutations-to-pituitary-deficits-in-a-cohort-of-417-unrelated-patients
#20
Enzo Cohen, Mohamad Maghnie, Nathalie Collot, Juliane Leger, Florence Dastot, Michel Polak, Sophie Rose, Philippe Touraine, Philippe Duquesnoy, Maïté Tauber, Bruno Copin, Anne-Marie Bertrand, Frederic Brioude, Daniela Larizza, Thomas Edouard, Laura González Briceño, Irène Netchine, Isabelle Oliver-Petit, Marie-Laure Sobrier, Serge Amselem, Marie Legendre
CONTEXT: LHX4 encodes a LIM-homeodomain transcription factor implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. OBJECTIVE: To evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, and to precise the associated phenotypes. To characterize the functional impact of the identified variants and the respective role of the two LIM domains of LHX4. PATIENTS AND DESIGN: We screened 417 unrelated patients with isolated growth hormone deficiency or combined pituitary hormone deficiency associated with ectopic posterior pituitary and/or sella turcica anomalies for LHX4 mutations (Sanger sequencing)...
November 7, 2016: Journal of Clinical Endocrinology and Metabolism
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