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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/28099132/efficacy-of-long-term-growth-hormone-therapy-in-short-non-growth-hormone-deficient-children
#1
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...
January 18, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27981513/growth-hormone-and-the-heart-in-growth-hormone-deficiency-what-have-we-learned-so-far
#11
EDITORIAL
Jörgen Isgaard, Antonio Cittadini
No abstract text is available yet for this article.
December 16, 2016: Endocrine
https://www.readbyqxmd.com/read/27978600/social-educational-and-vocational-outcomes-in-patients-with-childhood-onset-and-young-adult-onset-growth-hormone-deficiency
#12
M Tanya Mitra, Peter Jönsson, Ann-Charlotte Åkerblad, Peter Clayton, Maria Kołtowska-Häggström, Márta Korbonits, Andy Toogood, Helena Gleeson
OBJECTIVE: Hypopituitarism diagnosed in childhood, adolescence and young adulthood has the potential to affect growth and somatic development. Less is known about the impact of such a diagnosis on other aspects of development. DESIGN: An analysis of the KIMS Database (Pfizer International Metabolic Database) was performed to explore social, educational and vocational outcomes of adult patients diagnosed in childhood, adolescence and young adulthood compared with adult-onset controls...
December 15, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27974192/gh-deficiency-in-adult-survivors-of-childhood-cancer
#13
REVIEW
Francesco Felicetti, Nicoletta Fortunati, Emanuela Arvat, Enrico Brignardello
Childhood cancer survivors (CCS) are a fast growing population, but late adverse effects of cancer therapies are not rare. In CCS treated with cranial radiotherapy, growth hormone deficiency (GHD) is a well-known occurrence and the potential impact of GH replacement therapy on the global outcome of CCS is under continuous evaluation. In the present review, we discuss advantages and disadvantages of GH replacement therapy in survivors of pediatric malignancies, taking into consideration the different reasons for treating GHD during childhood or adult life...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974189/metabolic-alterations-in-paediatric-gh-deficiency
#14
REVIEW
Juliane Rothermel, Thomas Reinehr
Growth hormone (GH) has a large number of metabolic effects, involving lipid and glucose homoeostasis, lean and fat mass. Growth hormone deficiency (GHD) is associated with a metabolic profile similar to the Metabolic Syndrome which is characterized by dyslipidemia, insulin resistance, haemostatic alterations, oxidative stress, and chronic inflammation. GH replacement treatment in GHD children improves these cardiovascular risk factors, while cessation of GH is associated with a deterioration of most of these risk factors...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974188/treatment-of-growth-hormone-deficiency-in-children-adolescents-and-at-the-transitional-age
#15
REVIEW
Erick Richmond, Alan D Rogol
Recombinant human growth hormone (rhGH) has been available since 1985. Before 1985 growth hormone (GH) was extracted from cadaveric pituitary glands, but this was stopped in most countries that year, following the recognition that it could transmit Creutzfeldt-Jacob disease. The primary goal of rhGH treatment in GHD patients is to normalize height during childhood and adolescence and attain an adult height within the normal range and within the target height range (genetic potential). Genome-wide association studies have been used increasingly to study the genetic influence on height...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974187/diagnosis-of-growth-hormone-deficiency-in-the-paediatric-and-transitional-age
#16
REVIEW
A Chinoy, P G Murray
Growth hormone deficiency is a rare cause of childhood short stature, but one for which treatment exists in the form of recombinant human growth hormone. A diagnosis of growth hormone deficiency is made based on auxology, biochemistry and imaging. Although no diagnostic gold standard exists, growth hormone provocation tests are considered the mainstay of diagnostic investigations. However, these must be interpreted with caution in view of issues with variability and reproducibility, as well as the limited evidence-base for cut-off values used to distinguish growth hormone deficient and non-growth hormone deficient subjects...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974186/classical-and-non-classical-causes-of-gh-deficiency-in-the-paediatric-age
#17
REVIEW
Natascia Di Iorgi, Giovanni Morana, Anna Elsa Maria Allegri, Flavia Napoli, Roberto Gastaldi, Annalisa Calcagno, Giuseppa Patti, Sandro Loche, Mohamad Maghnie
Growth hormone deficiency (GHD) may result from a failure of hypothalamic GHRH production or release, from congenital disorders of pituitary development, or from central nervous system insults including tumors, surgery, trauma, radiation or infiltration from inflammatory diseases. Idiopathic, isolated GHD is the most common sporadic form of hypopituitarism. GHD may also occur in combination with other pituitary hormone deficiencies, and is often referred to as hypopituitarism, combined pituitary hormone deficiency (CPHD), multiple pituitary hormone deficiency (MPHD) or panhypopituitarism...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974184/genetic-causes-of-isolated-and-combined-pituitary-hormone-deficiency
#18
REVIEW
Mara Giordano
Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance. Naturally occurring mutation in humans and in mice have demonstrated a role for several factors in the aetiology of IGHD/CPHD. Mutations in the GH1 and GHRHR genes shed light on the phenotype and pathogenesis of IGHD whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 contributed to the understanding of CPHD...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27974183/growth-hormone-deficiency-in-children
#19
EDITORIAL
Flavia Prodam, Paolo Marzullo, Gianluca Aimaretti
No abstract text is available yet for this article.
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27932411/mod-4023-a-long-acting-carboxy-terminal-peptide-ctp-modified-human-growth-hormone-results-of-a-phase-2-study-in-growth-hormone-deficient-adults
#20
Christian J Strasburger, Peter Vanuga, Juraj Payer, Marija Pfeifer, Vera Popović, Laszlo Bajnok, Miklós I Góth, Věra Olšovská, Ľudmila Trejbalová, Janos Vadasz, Eyal Fima, Ronit Koren, Leanne Amitzi, Martin Bidlingmaier, Gili Hart, Beverly M K Biller
OBJECTIVE: Growth hormone (GH) replacement therapy currently requires daily injections, which may cause distress and low compliance. C-terminal peptide (CTP)-modified growth hormone (MOD-4023) is being developed as a once-weekly dosing regimen in patients with GH deficiency (GHD). This study's objective is to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD) and efficacy of MOD-4023 administered once weekly in GHD adults. DESIGN: 54 adults with GHD currently treated with daily GH were normalized and randomized into 4 weekly dosing cohorts of MOD-4023 at 18...
December 8, 2016: European Journal of Endocrinology
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