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Growth hormone deficiency

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https://www.readbyqxmd.com/read/28938456/growth-hormone-improves-cardiopulmonary-capacity-and-body-composition-in-children-with-growth-hormone-deficiency
#1
Donatella Capalbo, Flavia Barbieri, Nicola Improda, Francesco Giallauria, Elisa Di Pietro, Antonio Rapacciuolo, Raffaella Di Mase, Carlo Vigorito, Mariacarolina Salerno
Context: Growth hormone deficiency (GHD) in children may be associated with early cardiovascular risk factors and alterations in left ventricular (LV) structure and function; however, data on cardiopulmonary functional capacity are lacking. Objectives: Aim of the study was to evaluate the effect of GHD and GH therapy on cardiopulmonary functional capacity, left and right cardiac structure and function, and body composition in children and adolescents. Design: Prospective, case-control study...
August 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938396/transgenic-expression-of-the-vitamin-d-receptor-restricted-to-the-ileum-cecum-and-colon-of-vitamin-d-receptor-knockout-mice-rescues-vitamin-d-receptor-dependent-rickets
#2
Puneet Dhawan, Vaishali Veldurthy, Ghassan Yehia, Connie Hsaio, Angela Porta, Ki-In Kim, Nishant Patel, Liesbet Lieben, Lieve Verlinden, Geert Carmeliet, Sylvia Christakos
Although the intestine plays the major role in 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) action on calcium homeostasis, the mechanisms involved remain incompletely understood. The established model of 1,25(OH)2D3 regulated intestinal calcium absorption postulates a critical role for the duodenum. However it is the distal intestine where 70 -80% of the ingested calcium is absorbed. In order to test directly the role of 1,25(OH)2D3 and the vitamin D receptor (VDR) in the distal intestine, 3 independent knockout (KO) /transgenic (TG) lines expressing VDR exclusively in the ileum, cecum and colon were generated by breeding VDR KO mice with TG mice expressing human (h)VDR under the control of the 9...
September 11, 2017: Endocrinology
https://www.readbyqxmd.com/read/28936809/association-between-vitamin-d-and-carboxy-terminal-cross-linked-telopeptide-of-type-i-collagen-in-children-during-growth-hormone-replacement-therapy
#3
Ewelina Witkowska-Sędek, Anna Stelmaszczyk-Emmel, Anna Kucharska, Urszula Demkow, Beata Pyrżak
Growth hormone and insulin-like growth factor-1 (IGF-1) play a crucial role in the regulation of bone turnover. Adequate vitamin D status supports proper bone remodeling, leading to normal longitudinal bone growth and normal peak bone mass. The aim of this study was to evaluate the association between serum 25-hydroxyvitamin D [25(OH)D] and carboxy-terminal cross-linked telopeptide of type I collagen (ICTP) in children and adolescents with growth hormone deficiency at baseline and during recombinant human growth hormone (rhGH) replacement therapy...
September 22, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28936199/bone-status-in-a-patient-with-insulin-like-growth-factor-1-receptor-deletion-syndrome-bone-quality-and-structure-evaluation-using-dual-energy-x-ray-absorptiometry-peripheral-quantitative-computed-tomography-and-quantitative-ultrasonography
#4
Paola Pelosi, Elisabetta Lapi, Loredana Cavalli, Alberto Verrotti, Marilena Pantaleo, Maurizio de Martino, Stefano Stagi
Haploinsufficiency of the insulin-like growth factor (IGF)-1 receptor (IGF1R) gene is a rare, probably under-diagnosed, cause of short stature. However, the effects of IGF1R haploinsufficiency on glucose metabolism, bone status, and metabolism have rarely been investigated. We report the case of a patient referred to our center at the age of 18 months for short stature, failure to thrive, and Silver-Russell-like phenotype. Genetic analysis did not show hypomethylation of the 11p15.5 region or uniparental disomy of chromosome 7...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28931364/plasminogen-activator-inhibitor-type-1-a-possible-novel-biomarker-of-late-pituitary-dysfunction-after-mild-traumatic-brain-injury
#5
Istvan Frendl, Monika Katko, Erika Galgoczi, Judit Boda, Noemi Zsiros, Zoltan Nemeti, Zsuzsanna Bereczky, Renata Hudak, Janos Kappelmayer, Annamaria Erdei, Bela Turchanyi, Endre V Nagy
More than 80% of head trauma patients suffer from mild traumatic brain injury (mTBI). However, even mTBI carries the risk of late pituitary dysfunction. A predictive biomarker at the time of injury which could identify patients who subsequently may develop permanent pituitary dysfunction would help to direct patients towards endocrine care. We enrolled 508 traumatic brain injury patients (406 with mTBI) into our study. Blood samples were collected for identification of predictive biomarkers of late pituitary dysfunction at the time of admission...
September 20, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28926833/circulating-igf-i-igfbp-3-and-the-igf-i-igfbp-3-molar-ratio-concentration-and-height-outcome-in-prepubertal-short-children-on-rhgh-treatment-over-two-years-of-therapy
#6
María Gabriela Ballerini, Débora Braslavsky, Paula Alejandra Scaglia, Ana Keselman, María Eugenia Rodríguez, Alicia Martínez, Analía Verónica Freire, Horacio Mario Domené, Héctor Guillermo Jasper, Ignacio Bergadá, María Gabriela Ropelato
OBJECTIVE: To investigate the occurrence of abnormally elevated values of biomarkers of growth hormone (GH) action in short children on recombinant human GH (rhGH) therapy. METHODS: Sixty-three prepubertal short children were examined: 31 with GH deficiency (GHD), 25 small for gestational age (SGA), and 9 with Turner syndrome (TS). The main outcomes were the following: standard deviation score (SDS) values of IGF-I, IGFBP-3, and IGF-I/IGFBP-3 molar ratio before, at the 1st and at the 2nd year on rhGH and Δheight (Ht)-SDS to evaluate GH treatment efficacy (adequate 1st-year ΔHt SDS: >0...
September 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28925898/gh-supplementation-effects-on-cardiovascular-risk-in-gh-deficient-adult-patients-a-systematic-review-and-meta-analysis
#7
Vito Angelo Giagulli, Marco Castellana, Raffaella Perrone, Edoardo Guastamacchia, Massimo Iacoviello, Vincenzo Triggiani
BACKGROUND AND OBJECTIVE: The current meta-analysis aims at evaluating whether the existing clinical evidence may ascertain the effects of growth hormone (GH) replacement therapy on cardiovascular risk, both in isolated GH deficiency (GHD) and in compensated panhypopituitarism including GH deficit. METHOD: Original articles published from 1991 to 2015 were searched on Medline (Pubmed). Among an overall number of 181 potentially suitable studies, 24 fulfilled the selection criteria and were included in the analysis...
September 19, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28924605/pai-1-is-a-critical-regulator-of-fgf23-homeostasis
#8
Mesut Eren, Aaron T Place, Paul M Thomas, Panagiotis Flevaris, Toshio Miyata, Douglas E Vaughan
Elevated levels of fibroblast growth factor 23 (FGF23), a bone-derived phosphaturic hormone, are associated with a number of pathologic conditions including chronic kidney disease, cardiac hypertrophy, and congestive heart failure. Currently, there are no specific treatments available to lower plasma FGF23 levels. We have recently reported that genetic plasminogen activator inhibitor-1 (PAI-1) deficiency provided a significant reduction in circulating FGF23 levels while simultaneously prolonging the life span of Klotho-deficient mice...
September 2017: Science Advances
https://www.readbyqxmd.com/read/28923935/retinoid-x-receptor-suppresses-a-metastasis-promoting-transcriptional-program-in-myeloid-cells-via-a-ligand-insensitive-mechanism
#9
Mate Kiss, Zsolt Czimmerer, Gergely Nagy, Pawel Bieniasz-Krzywiec, Manuel Ehling, Attila Pap, Szilard Poliska, Pal Boto, Petros Tzerpos, Attila Horvath, Zsuzsanna Kolostyak, Bence Daniel, Istvan Szatmari, Massimiliano Mazzone, Laszlo Nagy
Retinoid X receptor (RXR) regulates several key functions in myeloid cells, including inflammatory responses, phagocytosis, chemokine secretion, and proangiogenic activity. Its importance, however, in tumor-associated myeloid cells is unknown. In this study, we demonstrate that deletion of RXR in myeloid cells enhances lung metastasis formation while not affecting primary tumor growth. We show that RXR deficiency leads to transcriptomic changes in the lung myeloid compartment characterized by increased expression of prometastatic genes, including important determinants of premetastatic niche formation...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923784/assessment-of-quality-of-life-on-4-year-growth-hormone-therapy-in-japanese-patients-with-adult-growth-hormone-deficiency-a-post-marketing-multicenter-observational-study
#10
Hitoshi Ishii, Akira Shimatsu, Hiromi Nishinaga, Osamu Murai, Kazuo Chihara
OBJECTIVE: Improvement of quality of life (QOL) by growth hormone (GH) therapy was not demonstrated in Japanese adult growth hormone deficiency (AGHD) patients by either the QOL Assessment of Growth Hormone Deficiency in Adults or the Questions on Life Satisfaction-Hypopituitarism, which are widely used to evaluate QOL in Western AGHD patients. We therefore evaluated QOL in Japanese AGHD patients receiving recombinant GH, Norditropin® (Novo Nordisk A/S, Denmark), using the newly developed Adult Hypopituitarism Questionnaire (AHQ)...
September 1, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#11
REVIEW
Chin Fang Ngim, Nai Ming Lai, Janet Yh Hong, Shir Ley Tan, Amutha Ramadas, Premala Muthukumarasamy, Meow-Keong Thong
BACKGROUND: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Growth hormone deficiency is one of the factors that can lead to short stature, a common complication in people with thalassaemia...
September 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#12
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28915901/possible-effects-of-an-early-diagnosis-and-treatment-in-patients-with-growth-hormone-deficiency-the-state-of-art
#13
REVIEW
Stefano Stagi, Perla Scalini, Giovanni Farello, Alberto Verrotti
Growth hormone deficiency (GHD) is a relatively uncommon and heterogeneous endocrine disorder presenting in childhood with short stature. However, during the neonatal period, the metabolic effects of GHD may to require prompt replacement therapy to avoid possible life-threatening complications. An increasing amount of data suggests the importance of an early diagnosis and treatment of GHD because of its auxological, metabolic, and neurodevelopmental features with respect to the patients diagnosed and treated later in life...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28913408/hepatocyte-specific-deletion-of-mouse-lamin-a-c-leads-to-male-selective-steatohepatitis
#14
Raymond Kwan, Graham F Brady, Maria Brzozowski, Sujith V Weerasinghe, Hope Martin, Min-Jung Park, Makayla J Brunt, Ram K Menon, Xin Tong, Lei Yin, Colin L Stewart, M Bishr Omary
BACKGROUND & AIMS: Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina. Mutations in LMNA, which encodes lamins A/C, cause laminopathies, including lipodystrophy, cardiomyopathy, and premature aging syndromes. However, the role of lamins in the liver is unknown, and it is unclear whether laminopathy-associated liver disease is caused by primary hepatocyte defects or systemic alterations. METHODS: To address these questions, we generated mice carrying a hepatocyte-specific deletion of Lmna (knockout [KO] mice) and characterized the KO liver and primary hepatocyte phenotypes by immunoblotting, immunohistochemistry, microarray analysis, quantitative real-time polymerase chain reaction, and Oil Red O and Picrosirius red staining...
November 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28912516/choroidal-thickness-measurements-in-children-with-isolated-growth-hormone-deficiency
#15
N G Yalcin, Z Aktas, O Yuce, G D G Ikiz, M Hasanreisoglu, A Bideci
PurposeThe aim of this study was to determine the choroidal thickness measurement values in cases with isolated growth hormone deficiency (IGHD), to compare them with the healthy control group by using enhanced depth imaging optical coherence tomography (EDI-OCT), and to evaluate the effect of growth hormone (GH) treatment on choroid.Patients and methodsIn this study, 23 cases who were diagnosed with IGHD as a study group and 46 healthy subjects as a control group were included. All patients and controls underwent a complete ophthalmologic examination, including an examination with EDI-OCT...
September 15, 2017: Eye
https://www.readbyqxmd.com/read/28910730/pathogenic-and-likely-pathogenic-genetic-alterations-and-polymorphisms-in-growth-hormone-gene-gh1-and-growth-hormone-releasing-hormone-receptor-gene-ghrhr-in-a-cohort-of-isolated-growth-hormone-deficient-ighd-children-in-sri-lanka
#16
Tharmini Sundralingam, Kamani Hemamala Tennekoon, Shamya de Silva, Sumadee De Silva, Asanka Sudeshini Hewage
OBJECTIVE: Genetic alterations in GH1 and GHRHR genes are known to cause isolated growth hormone deficiency (IGHD). Of these, GHRHR codon 72 mutation has been reported to be highly prevalent in the Indian subcontinent, but among Sri Lankans its prevalence was low compared to reports from neighboring countries. The present study was therefore carried out to identify genetic alterations in the GH1 gene and rest of the GHRHR gene in a cohort of Sri Lankan IGHD patients who tested negative for GHRHR codon 72 mutation...
September 5, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28904008/mechanisms-in-endocrinology-clinical-and-pharmacogenetic-aspects-of-the-growth-hormone-receptor-polymorphism
#17
Cesar Luiz Boguszewski, Edna Jesus Litenski Barbosa, Per-Arne Svensson, Gudmundur Johannsson, Camilla A M Glad
Pharmacogenetics aims to maximize the beneficial effects of a medical therapy by identifying genetic finger prints from responders and non-responders and, thereby, improving safety and efficacy profile of the drug. Most subjects who are deficient in growth hormone (GHD) are candidates for recombinant human GH (rhGH) therapy. To date, it is well established that even after adjustments for several clinical variables, such as age, gender, body composition and the age at onset of the GHD, response to rhGH treatment is highly variable among individuals, part of which is believed to be due to genetic factors within the GH system...
September 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28902629/individualised-growth-response-optimisation-igro-tool-an-accessible-and-easy-to-use-growth-prediction-system-to-enable-treatment-optimisation-for-children-treated-with-growth-hormone
#18
REVIEW
Jane Loftus, Anders Lindberg, Ferah Aydin, Roy Gomez, Mohamad Maghnie, Raoul Rooman, Heinz Steinkamp, Helmuth Doerr, Michael Ranke, Cecilia Camacho-Hubner
BACKGROUND: Growth prediction models (GPMs) exist to support clinical management of children treated with growth hormone (GH) for growth hormone deficiency (GHD), Turner syndrome (TS) and for short children born small for gestational age (SGA). Currently, no prediction system has been widely adopted. CONTENT: The objective was to develop a stand-alone web-based system to enable the widespread use of an 'individualised growth response optimisation' (iGRO) tool across European endocrinology clinics...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28902627/serum-%C3%AE-klotho-levels-are-not-informative-for-the-evaluation-of-growth-hormone-secretion-in-short-children
#19
Cristina Meazza, Heba H Elsedfy, Randa I Khalaf, Fiorenzo Lupi, Sara Pagani, Mohamed El Kholy, Carmine Tinelli, Giorgio Radetti, Mauro Bozzola
BACKGROUND: α-Klotho is a transmembrane protein that can be cleaved and act as a circulating hormone (s-klotho). s-Klotho serum levels seem to reflect growth hormone (GH) secretory status. We investigated the role of s-klotho as a reliable marker of GH secretion in short children and the factors influencing its secretion. METHODS: We enrolled 40 short Egyptian children (20 GH deficiency [GHD] and 20 idiopathic short stature [ISS]). They underwent a pegvisomant-primed insulin tolerance test (ITT) and were accordingly reclassified as 16 GHD and 24 ISS...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28901272/disorders-of-mechanisms-of-calcium-metabolism-control-as-potential-risk-factors-of-prostate-cancer
#20
Dorota Skrajnowska, Barbara Bobrowska-Korczak, Andrzej Tokarz
Prostate cancer significantly affects the overall morbidity and mortality of malignant tumours in highly developed countries. Important risk factors include family predisposition and regional, racial and dietary determinants. The scientific literature contains a great deal of data on the role of calcium and dairy products in general in the process of neoplastic transformation of the prostate. This is most likely linked to the fact that changes in the concentration of calcium ions control such varied life processes as secretion of hormones and neurotransmitters, the level of cyclic nucleotides, and cell growth, division and differentiation...
September 12, 2017: Current Medicinal Chemistry
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