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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/28220259/mutations-in-kiaa0753-cause-joubert-syndrome-associated-with-growth-hormone-deficiency
#1
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M Sinclair, Deniz Yildirimli, Dawn M Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Marjan Huizing, William A Gahl, May Christine V Malicdan, Meral Gunay-Aygun
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency...
February 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28217586/occult-endocrine-dysfunction-in-patients-with-cirrhosis-of-liver
#2
K V S Hari Kumar, A K Pawah, Manish Manrai
BACKGROUND: Liver dysfunction leads to endocrine disturbance due to the alteration in protein metabolism or synthesis. We studied the presence of occult endocrine dysfunction in liver cirrhosis and compared the same with underlying etiology. MATERIALS AND METHODS: We evaluated thirty patients with liver cirrhosis in this cross-sectional, observational study. All subjects were assessed for pituitary, thyroid, adrenal, and gonadal function. The patients were divided into Group 1 (cirrhosis, n = 30) and Group 2 (controls, n = 15) and the data were analyzed with appropriate statistical tests...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28208663/endoplasmic-reticulum-er-stress-and-endocrine-disorders
#3
REVIEW
Daisuke Ariyasu, Hiderou Yoshida, Yukihiro Hasegawa
The endoplasmic reticulum (ER) is the organelle where secretory and membrane proteins are synthesized and folded. Unfolded proteins that are retained within the ER can cause ER stress. Eukaryotic cells have a defense system called the "unfolded protein response" (UPR), which protects cells from ER stress. Cells undergo apoptosis when ER stress exceeds the capacity of the UPR, which has been revealed to cause human diseases. Although neurodegenerative diseases are well-known ER stress-related diseases, it has been discovered that endocrine diseases are also related to ER stress...
February 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28196799/a-phase-2-trial-of-long-acting-transcon-growth-hormone-in-adult-gh-deficiency
#4
Charlotte Höybye, Andreas F H Pfeiffer, Diego Ferone, Jens S Christiansen, David Gilfoyle, Eva Dam Christoffersen, Eva Mortensen, Jonathan A Leff, Michael Beckert
TransCon growth hormone is a sustained release human growth hormone prodrug in development in which unmodified growth hormone is transiently linked to a carrier molecule. It is intended as an alternative to daily growth hormone in the treatment of growth hormone deficiency. This was a multi-center, randomized, open-label, active-controlled trial designed to compare the safety (including tolerability and immunogenicity), pharmacokinetics, and pharmacodynamics of three doses of weekly TransCon GH to daily growth hormone (Omnitrope)...
February 14, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28164079/short-stature-and-growth-hormone-deficiency-in-a-girl-with-encephalocraniocutaneous-lipomatosis-and-jaffe-campanacci-syndrome-a-case-report
#5
Eun Mi Choi, Nani Jung, Ye Jee Shim, Hee Joung Choi, Joon Sik Kim, Heung Sik Kim, Kwang Soon Song, Hee Jung Lee, Sang Pyo Kim
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities...
December 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28161880/long-term-safety-and-efficacy-of-omnitrope-%C3%A2-in-adults-with-growth-hormone-deficiency-italian-interim-analysis-of-the-patro-adults-study
#6
D Ferone, E Profka, V Gasco, M R Ambrosio, A Colao, C Di Somma, E Puxeddu, G Arnaldi, C Pagano, E Zecchi, A Pietropoli, P Beck-Peccoz
PURPOSE: To report the long-term effectiveness and safety of the recombinant human growth hormone Omnitrope(®), a somatropin biosimilar to Genotropin(®), in Italian patients with growth hormone deficiency (GHD) enrolled in the PATRO Adults study. METHODS: The PATRO Adults study is an ongoing observational, longitudinal, non-interventional global post-marketing surveillance study, conducted in several European countries. The primary endpoint is long-term safety; secondary endpoints include the effectiveness of Omnitrope(®), which was assessed using serum insulin-like growth factor-1 levels, body composition, bone mineral density and lipid levels...
February 4, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28150584/treatment-of-pre-pubertal-patients-with-growth-hormone-deficiency-patterns-in-growth-hormone-dosage-and-igf-i-z-scores
#7
Megan Oberle, Adda Grimberg, Vaneeta Bamba
OBJECTIVE: To describe the range of IGF-Iz and GH dose adjustments in pre-pubertal patients with GH deficiency (GHD) treated with GH in a single tertiary care center. METHODS: Retrospective review of GH-treated patients age <9 years with GHD, seen in endocrinology clinic 2013-2014. Patient demographics and pre-treatment anthropometrics, GH treatment duration, IGF-Iz, and GH dosage (mg/kg/week) were extracted. Multi-predictor linear regression was used to evaluate the associations between IGF-Iz and GH dosage and subject gender, race, insurance type, age, and clinical characteristics...
February 2, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28130091/nitric-oxide-no-mediated-mitochondrial-damage-plays-a-critical-role-in-t-2-toxin-induced-apoptosis-and-growth-hormone-deficiency-in-rat-anterior-pituitary-gh3-cells
#8
Xianglian Liu, Pu Guo, Aimei Liu, Qinghua Wu, Xijuan Xue, Menghong Dai, Haihong Hao, Wei Qu, Shuyu Xie, Xu Wang, Zonghui Yuan
T-2 toxin, a major compound of trichothecenes, induces cell apoptosis and growth hormone (GH) deficiency and causes considerable growth retardation in animals and human cells. However, the mechanism underlying its growth suppression still remains unclear. Recent studies have suggested that ROS induced cell apoptosis and animal feed intake reduction, but there are limited reports on the role of RNS in T-2 toxin-mediated mitochondrial damage, cell apoptosis and growth retardation. Herein, T-2 toxin-induced GH3 cell damage and apoptosis were tested by MTT assay, LDH leakage and flow cytometry, respectively...
January 24, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/28114247/neuroendocrine-dysfunction-in-a-young-athlete-with-concussion-a-case-report
#9
David M Langelier, Gregory A Kline, Chantel T Debert
An 18-year-old female ringette and basketball player presented to our sport concussion clinic 27 months after concussion with fatigue, headache, exercise intolerance, polyuria, nocturia, and difficulties concentrating. Her history was remarkable for 4 previous concussions. Her neurologic examination was normal. Neuroendocrine screen including thyroid function, morning cortisol, glucose, and insulin-like growth factor-1 (screening test for growth hormone deficiency) were normal. Further testing for growth hormone deficiency with an insulin hypoglycemia test revealed severe growth hormone deficiency...
January 20, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28105090/effects-of-recombinant-human-growth-hormone-in-the-treatment-of-dwarfism-and-relationship-between-igf-1-igfbp-3-and-thyroid-hormone
#10
Shanxiang Ren, Yuxiang Nie, Aihong Wang
The effects of recombinant human growth hormone (rhGH) in the treatment of dwarfism and the relationship between insulin-like growth factor (IGF)-1, IGF-binding protein (IGFBP)-3 and thyroid hormone were examined in the present study. For this purpose, 66 patients diagnosed with dwarfism were selected retrospectively, with 36 cases of growth hormone deficiency (GHD) and 30 cases of idiopathic short stature (ISS). The therapeutic dose of GHD 0.10 IU/kg·day and ISS 0.15 IU/kg·day were injected subcutaneously every night before sleep until adulthood...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28099132/efficacy-of-long-term-growth-hormone-therapy-in-short-non-growth-hormone-deficient-children
#11
Lucia Schena, Cristina Meazza, Sara Pagani, Valeria Paganelli, Elena Bozzola, Carmine Tinelli, Fabio Buzi, Mauro Bozzola
BACKGROUND: In recent years, several studies have been published showing different responses to growth hormone (GH) treatment in idiopathic short stature children. The aim of the present study was to investigate whether non-growth-hormone-deficient (non-GHD) short children could benefit from long-term GH treatment as GHD patients. METHODS: We enrolled 22 prepubertal children and 22 age- and sex-matched GHD patients, with comparable height, body mass index (BMI), bone age, and insulin-like growth factor 1 (IGF-I) circulating levels...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28095492/growth-hormone-deficiency-is-associated-with-worse-cardiac-function-physical-performance-and-outcome-in-chronic-heart-failure-insights-from-the-t-o-s-ca-ghd-study
#12
Michele Arcopinto, Andrea Salzano, Francesco Giallauria, Eduardo Bossone, Jörgen Isgaard, Alberto M Marra, Emanuele Bobbio, Olga Vriz, David N Åberg, Daniele Masarone, Amato De Paulis, Lavinia Saldamarco, Carlo Vigorito, Pietro Formisano, Massimo Niola, Francesco Perticone, Domenico Bonaduce, Luigi Saccà, Annamaria Colao, Antonio Cittadini
BACKGROUND: Although mounting evidence supports the concept that growth hormone (GH) deficiency (GHD) affects cardiovascular function, no study has systematically investigated its prevalence and role in a large cohort of chronic heart failure (CHF) patients. Aim of this study is to assess the prevalence of GHD in mild-to-moderate CHF and to explore clinical and functional correlates of GHD. METHODS: One-hundred thirty CHF patients underwent GH provocative test with GHRH+arginine and accordingly categorized into GH-deficiency (GHD, n = 88, age = 61...
2017: PloS One
https://www.readbyqxmd.com/read/28067847/the-impact-of-growth-hormone-therapy-on-the-apoptosis-assessment-in-cd34-hematopoietic-cells-from-children-with-growth-hormone-deficiency
#13
Miłosz Piotr Kawa, Iwona Stecewicz, Katarzyna Piecyk, Edyta Paczkowska, Dorota Rogińska, Anna Sobuś, Karolina Łuczkowska, Ewa Pius-Sadowska, Elżbieta Gawrych, Elżbieta Petriczko, Mieczysław Walczak, Bogusław Machaliński
Growth hormone (GH) modulates hematopoietic cell homeostasis and is associated with apoptosis control, but with limited mechanistic insights. Aim of the study was to determine whether GH therapeutic supplementation (GH-TS) could affect apoptosis of CD34+ cells enriched in hematopoietic progenitor cells of GH deficient (GHD) children. CD34+ cells from peripheral blood of 40 GHD children were collected before and in 3rd and 6th month of GH-TS and compared to 60 controls adjusted for bone age, sex, and pubertal development...
January 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28052552/celsr2-encoding-a-planar-cell-polarity-protein-is-a-putative-gene-in-joubert-syndrome-with-cortical-heterotopia-microophthalmia-and-growth-hormone-deficiency
#14
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Peter J Steinbach, William A Gahl, Meral Gunay-Aygun
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity...
January 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28031934/stories-of-experiences-of-care-for-growth-hormone-deficiency-the-crescere-project
#15
Maria G Marini, Paola Chesi, Laura Mazzanti, Laura Guazzarotti, Teresa D Toni, Maria C Salerno, Annunziata Officioso, Maria Parpagnoli, Cristina Angeletti, Maria F Faienza, Maria L Iezzi, Tommaso Aversa, Cinzia Sacchetti
AIMS: Growth hormone deficiency therapy is demanding for patients and caregivers. Teams engaged in the clinical management of growth hormone deficiency therapy need to know how families live with this condition, to provide an adequate support and prevent the risk of withdrawal from therapy. METHODS: Using Narrative Medicine, testimonies from patients, their parents and providers of care were collected from 11 Italian centers. Narrations were analyzed throughout an elaboration of recurring words and expressions...
March 2016: Future Science OA
https://www.readbyqxmd.com/read/28018463/concomitant-occurrence-of-turner-syndrome-and-growth-hormone-deficiency
#16
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28004416/changeability-of-the-fully-methylated-status-of-the-15q11-2-region-in-induced-pluripotent-stem-cells-derived-from-a-patient-with-prader-willi-syndrome
#17
Hironobu Okuno, Kazuhiko Nakabayashi, Kousei Abe, Takayuki Ando, Tsukasa Sanosaka, Jun Kohyama, Wado Akamatsu, Manabu Ohyama, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano
Prader-Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS-imprinting control region in chromosome 15q11.2, subject to parent-of-origin-specific methylation and controlling the parent-of-origin-specific expression of other paternally expressed genes flanking the region. In theory, the reversal of hypermethylation in the hypothalamic cells could be a promising strategy for the treatment of PWS patients, since cardinal symptoms of PWS patients are correlated with dysfunction of the hypothalamus...
December 21, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27998231/hypothalamic-pituitary-axis-dysfunction-in-survivors-of-childhood-cns-tumors-importance-of-systematic-follow-up-and-early-endocrine-consultation
#18
Wassim Chemaitilly, Gregory T Armstrong, Amar Gajjar, Melissa M Hudson
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice...
December 20, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27998218/prevalence-and-risk-factors-of-early-endocrine-disorders-in-childhood-brain-tumor-survivors-a-nationwide-multicenter-study
#19
Sarah C Clement, Antoinette Y N Schouten-van Meeteren, Annemieke M Boot, Hedy L Claahsen-van der Grinten, Bernd Granzen, K Sen Han, Geert O Janssens, Erna M Michiels, A S Paul van Trotsenburg, W Peter Vandertop, Dannis G van Vuurden, Leontien C M Kremer, Hubert N Caron, Hanneke M van Santen
Purpose To evaluate the prevalence of, and risk factors for, early endocrine disorders in childhood brain tumor survivors (CBTS). Patients and Methods This nationwide study cohort consisted of 718 CBTS who were diagnosed between 2002 and 2012, and who survived ≥ 2 years after diagnosis. Patients with craniopharyngeoma or a pituitary gland tumor were excluded. Results of all endocrine investigations, which were performed at diagnosis and during follow-up, were collected from patient charts. Multivariable logistic regression was used to study associations between demographic and tumor- and treatment-related variables and the prevalence of early endocrine disorders...
December 20, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#20
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
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