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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/28806841/genetic-polymorphisms-as-predictive-markers-of-response-to-growth-hormone-therapy-in-children-with-growth-hormone-deficiency
#1
Anna Maria Jung, Martin Zenker, Christina Lißewski, Denny Schanze, Stefan Wagenpfeil, Tilman Robert Rohrer
Objective Growth hormone (GH) deficiency (GHD) is commonly treated with recombinant human GH (rhGH). Individual response to rhGH therapy varies widely and there is evidence that variations in growth-related genes, e. g. the GH receptor (GHR) gene, may impact treatment response. We aimed to identify genetic polymorphisms which could serve as predictive markers of response to rhGH therapy. Methods We conducted a genetic analysis of single nucleotide polymorphisms (SNPs) and the GHR exon 3 deletion in 101 paediatric GHD patients receiving rhGH...
August 14, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28803605/management-of-adult-growth-hormone-deficiency-at-peking-union-medical-college-hospital-a-survey-among-physicians
#2
Hong-Bo Yang, Meng-Qi Zhang, Hui Pan, Hui-Juan Zhu
Objective To evaluate physicians' attitude and knowledge about the management of adult growth hormone deficiency (AGHD) at Peking Union Medical College Hospital and impact factors associated with better decision-making.Methods A 21-question anonymous survey was distributed and collected at Peking Union Medical College Hospital, a major teaching hospital in Chinese Academy of Medical Sciences. Data of physicians' educational background, clinical training, patient workload per year and continuing medical education in AGHD were collected...
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/28802353/hearing-loss-in-children-with-growth-hormone-deficiency
#3
John S Muus, Forest W Weir, Kathryn L Kreicher, Deborah A Bowlby, Christopher M Discolo, Ted A Meyer
OBJECTIVE: Although insulin-like growth factor 1 (IGF-1) has been shown to be important for inner-ear development in animal models, little is known about the otologic and audiologic findings of children with growth hormone deficiency (GHD). The goal of this study is to evaluate the prevalence, type, and severity of hearing impairment in children with GHD. METHODS: Audiologic, otologic, and demographic data were recorded for children with a diagnosis of GHD in the AudGen database...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28780521/early-growth-hormone-treatment-start-in-childhood-growth-hormone-deficiency-improves-near-adult-height-analysis-from-nordinet-%C3%A2-international-outcome-study
#4
Michel Polak, Joanne C Blair, Primoz Kotnik, Effie Pournara, Birgitte Tønnes Pedersen, Tilman R Rohrer
OBJECTIVE: To investigate the effect of age at growth hormone (GH) treatment start on near adult height (NAH) in children with isolated GH deficiency (GHD). DESIGN: NordiNet(®) International Outcome Study (IOS) (NCT00960128), a non-interventional, multicentre study, evaluates the long-term effectiveness and safety of Norditropin(®) (somatropin) (Novo Nordisk A/S) in the real-life clinical setting. METHODS: Patients (n=172) treated to NAH (height at ≥18 years, or height velocity <2 cm/year at ≥16 [boys] or ≥15 [girls] years) were grouped by age (years) at treatment start (early [girls, <8; boys, <9], intermediate [girls, 8-10; boys, 9-11] or late [girls, >10; boys, >11]) and GHD severity (<3 ng/mL or 3-≤10 ng/mL)...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28780520/bone-microarchitecture-and-estimated-bone-strength-in-men-with-active-acromegaly
#5
Paula Pb Silva, Fatemeh Ghazanfari Amlashi, Elaine W Yu, Karen J Pulaski-Liebert, Anu Gerweck, Pouneh Fazeli, Elizabeth A Lawson, Lisa B Nachtigall, Beverly M K Biller, Karen K Miller, Anne Klibanski, M Bouxsein, Nicholas A Tritos
CONTEXT: Both acromegaly and adult growth hormone deficiency (GHD) are associated with increased fracture risk. Sufficient data are lacking regarding cortical bone microarchitecture and bone strength, as assessed by micro-finite element analysis (µFEA). OBJECTIVE: To elucidate both cortical and trabecular bone microarchitecture and estimated bone strength in men with active acromegaly or GHD compared to healthy controls. DESIGN AND SUBJECTS: Cross-sectional study at a clinical research center, including 48 men (16 with acromegaly, 16 with GHD and 16 healthy controls)...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28767192/expanding-the-phenotype-of-dst-related-disorder-a-case-report-suggesting-a-genotype-phenotype-correlation
#6
Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Marianna Alagia, Renata Auricchio, Annamaria Staiano, Vincenzo Nigro, Nicola Brunetti-Pierri
The gene DST encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue-enriched isoforms in brain, muscle, and skin. The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. Here, we report a 17-year-old female individual presenting with a more complex phenotype consisting of both skin and neuronal involvement, in addition to several previously unreported findings, such as iris heterochromia, cataract, hearing impairment, syringomyelia, behavioral, and gastrointestinal issues, osteoporosis, and growth hormone deficiency...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28760908/impact-of-the-underlying-etiology-of-growth-hormone-deficiency-on-serum-igf-i-sds-levels-during-gh-treatment-in-children
#7
Juliane Léger, Damir Mohamed, Sophie Dos Santos, Myriam Ben Azoun, Delphine Zénaty, Dominique Simon, Anne Paulsen, Laetitia Martinerie, Didier Chevenne, Corinne Alberti, Jean-Claude Carel, Sophie Guilmin-Crepon
CONTEXT: Regular monitoring of serum IGF-I levels during growth hormone (GH) therapy has been recommended, for assessing treatment compliance and safety. OBJECTIVE: To investigate serum IGF-I SDS levels during GH treatment in children with GH deficiency, and to identify potential determinants of these levels. DESIGN, PATIENTS AND METHODS: This observational cohort study included all patients (n = 308) with childhood-onset non-acquired or acquired GH deficiency (GHD) included in the database of a single academic pediatric care center over a period of 10 years for whom at least one serum IGF-I SDS determination during GH treatment was available...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28755537/gender-has-to-be-taken-into-account-in-diagnosing-adult-growth-hormone-deficiency-by-the-ghrh-plus-arginine-test
#8
Helene M Markkanen, Tuula Pekkarinen, Esa Hämäläinen, Matti J Välimäki, Henrik Alfthan, Ulf-Håkan Stenman
OBJECTIVE: Data on the effect of gender on the interpretation of the GHRH plus arginine stimulation test (GHRH+ARG test) is controversial. We validated the GHRH+ARG stimulation test in control subjects and patients with organic or idiopathic pituitary disease and a suspicion of adult growth hormone deficiency (AGHD) using the Immulite 2000 XPi GH assay. DESIGN: We studied 126 apparently healthy adults (median age 38.8years) and 34 patients with a suspicion of AGHD (median age 42...
July 18, 2017: Growth Hormone & IGF Research
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
#9
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
#10
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/28730965/efficient-non-invasive-plasmid-dna-administration-into-tibialis-cranialis-muscle-of-little-mice
#11
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
#12
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/28719905/childhood-onset-adult-growth-hormone-deficiency-clinical-hormonal-and-radiological-assessment-in-a-single-center-in-china
#13
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/28690991/effect-of-growth-hormone-treatment-on-children-with-idiopathic-short-stature-and-idiopathic-growth-hormone-deficiency
#14
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/28683157/growth-impairment-and-gonadal-axis-abnormalities-are-common-in-survivors-of-paediatric-brain-tumours
#15
Sari Pietilä, Anne Mäkipernaa, Anna-Maija Koivisto, Hanna L Lenko
AIM: Childhood brain tumour survivors have a high risk of endocrine morbidity. This study evaluated the growth, pubertal development and gonadal function in survivors of childhood brain tumours and identified factors associated with the problems we observed. METHODS: The 52 subjects (52% male) were diagnosed in 1983-1997 and treated for brain tumours at Tampere University Hospital, Finland. They were followed up at a mean age of 14.2 (3.8-28.7) years, a mean of 7...
July 6, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28679975/the-response-to-growth-hormone-treatment-in-prepubertal-children-with-growth-hormone-deficiency-in-japan-comparing-three-consecutive-years-of-treatment-data-of-the-foundation-for-growth-science-in-japan-between-the-1990s-and-2000s
#16
Tsuyoshi Isojima, Tomonobu Hasegawa, Susumu Yokoya, Toshiaki Tanaka
Growth hormone (GH) treatment for children with GH deficiency (GHD) is effective in improving adult height. To achieve favorable effects, GH treatment before puberty is very important, because prepubertal height gain is highly correlated with total height gain. However, no report has studied the effects by analyzing a nationwide data from recent GHD patients in Japan. We investigated the response to GH treatment using data compiled in the Foundation for Growth Science in Japan, and compared the effects between the 1990s and 2000s using analysis of covariance...
July 4, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28678199/the-role-of-growth-hormone-and-insulin-like-growth-factor-i-in-the-liver
#17
REVIEW
Yutaka Takahashi
Adult growth hormone deficiency (GHD) is characterized by metabolic abnormalities associated with visceral obesity, impaired quality of life, and increased mortality. Patients with adult GHD show increased prevalence of non-alcoholic fatty liver disease (NAFLD)/non-alcoholic steatohepatitis (NASH), and growth hormone (GH) replacement therapy has been shown to improve these conditions. It has also been demonstrated that a decrease in the GH insulin-like growth factor-I (IGF-I) axis is closely associated with the progression of general NAFLD, suggesting a physiological role of these hormones for the maintenance of the liver...
July 5, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28675583/experiencing-health-related-quality-of-life-in-paediatric-short-stature-a-cross-cultural-analysis-of-statements-from-patients-and-parents
#18
Rachel Sommer, Monika Bullinger, John Chaplin, Ju-Ky Do, Mick Power, Andreas Pleil, Julia Quitmann
OBJECTIVES: Direct assessment of the patient perspective is necessary to thoroughly understand patients' experiences of disease. We aimed to examine information from children with short stature on their perceived HrQoL within 5 European countries. METHODS: Patients, identified through clinical databases, were approached by their clinicians according to the inclusion criteria regarding a diagnosis of growth hormone deficiency or idiopathic short stature and age requirements...
July 4, 2017: Clinical Psychology & Psychotherapy
https://www.readbyqxmd.com/read/28668339/-ten-years-experience-with-the-first-approved-biosimilar-recombinant-human-growth-hormone-drug-in-normal-clinical-practice
#19
Juan Pedro López-Siguero, Margarida Palla García, Elena Martínez Busto, Francisco José Rebollo, Manuel Pombo
INTRODUCTION: Recombinant human growth hormone (rhGH) is the first biosimilar drug approved by the European Medicines Agency in 2006, using the biosimilar registration process. It was authorised for the treatment of growth hormone deficiency, and growth disorders associated with Turner's syndrome, chronic renal failure, Prader-Willi syndrome, and growth disorders in children/adolescents born small for gestational age, and replacement therapy in adults with pronounced growth hormone deficiency...
June 28, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28661901/long-term-and-late-treatment-consequences-endocrine-and-metabolic-effects
#20
Thang S Han, Helena K Gleeson
PURPOSE OF REVIEW: Cancer therapies often result in the 'late effect of cancer treatment' whereby secondary health complications emerge years after radiotherapy and chemotherapy. This review focuses on endocrine and metabolic consequences in adult cancer survivors as late treatment effects. RECENT FINDINGS: Endocrine and metabolic disorders are among the most common late effects. Endocrine disorders include hypopituitarism, which leads to growth hormone deficiency, hypogonadism, adrenal insufficiency and hypothyroidism and related clinical manifestations...
September 2017: Current Opinion in Supportive and Palliative Care
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