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Growth hormone deficiency

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https://www.readbyqxmd.com/read/29147571/a-surprising-treatment-response-in-a-patient-with-rare-isolated-growth-hormone-deficiency-type-ib
#1
Jordan Yardain Amar, Kimberly Borden, Elizabeth Watson, Talin Arslanian
Isolated Growth Hormone Deficiency (IGHD) is a rare cause of short stature, treated with the standard regimen of subcutaneous synthetic growth hormone (GH). Patients typically achieve a maximum height velocity in the first year of treatment, which then tapers shortly after treatment is stopped. We report a case of a 9-year-old male who presented with short stature (<3rd percentile for age and race). Basal hormone levels showed undetectable serum IGF1. Skeletal wrist age was consistent with chronologic age...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29144802/lipid-accumulation-product-visceral-adiposity-index-and-chinese-visceral-adiposity-index-as-markers-of-cardiometabolic-risk-in-adult-growth-hormone-deficiency-patients-a-cross-sectional-study
#2
Xin Xie, Qing Li, Lingmin Zhang, Wei Ren
OBJECTIVE: Adult growth hormone deficiency (AGHD) is associated with cardiometabolic risk factors. Given that cardiovascular disease (CVD) is an important cause of morbidity and mortality in the AGHD population, there is a need for alternative, non-invasive methods of assessing cardiometabolic risk in this population. Chinese visceral adiposity index (CVAI) is a new marker of visceral fat dysfunction that is based on age, body mass index (BMI), waist circumference (WC) and metabolic parameters...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29143180/oxidative-stress-in-adult-growth-hormone-deficiency-different-plasma-antioxidant-patterns-in-comparison-with-metabolic-syndrome
#3
Antonio Mancini, Chantal Di Segni, Carmine Bruno, Giulio Olivieri, Francesco Guidi, Andrea Silvestrini, Elisabetta Meucci, Patrick Orlando, Sonia Silvestri, Luca Tiano, Alfredo Pontecorvi
BACKGROUND AND AIMS: Growth hormone deficiency (GHD) is a condition associated with increased cardiovascular risk and insulin-resistance. Oxidative stress (OS) could be a mechanism underlying both these phenomena. In order to investigate plasma antioxidant defenses in such condition, we evaluated adults with GHD, compared with controls and metabolic syndrome patients (MetS), studying plasma total antioxidant capacity (TAC) and coenzyme Q10 (CoQ10, lipophilic antioxidant) levels, both in its oxidized and reduced forms, correlating this data with metabolic and hormonal pattern...
November 15, 2017: Endocrine
https://www.readbyqxmd.com/read/29137650/recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#4
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly, hypogonadism, and growth hormone deficiency...
November 14, 2017: Human Genomics
https://www.readbyqxmd.com/read/29136343/pharmacokinetics-pharmacodynamics-and-safety-of-a-long-acting-human-growth-hormone-mod-4023-in-healthy-japanese-and-caucasian-adults
#5
William G Kramer, Michal Jaron-Mendelson, Ronit Koren, Oren Hershkovitz, Gili Hart
Daily injections of growth hormone (GH) as replacement therapy in GH-deficient (GHD) patients may cause poor compliance and inconvenience. C-terminal peptide-modified human GH (MOD-4023) has been developed for once-weekly administration in GHD adults and children. In the present study, the pharmacokinetics (PK) and pharmacodynamics (PD) of a single subcutaneous dose of MOD-4023 were evaluated in healthy Caucasian and Japanese adults, using a phase 1 double-blind, vehicle-controlled, randomized study design...
November 14, 2017: Clinical Pharmacology in Drug Development
https://www.readbyqxmd.com/read/29135108/addressing-the-post-irradiation-hypothalamic-pituitary-endocrine-abnormalities-of-brain-tumors-in-pediatric-patients
#6
Louloudenia Velentza, Maria Tolia, Charikleia Christakou, Michail Nikolaou, Ioannis Zerdes, Nikolaos Tsoukalas, Jiannis Hajiioannou, Konstantinos Tsanadis, Georgios Rigas, Michail Mitsis, Kyriaki Theodorou, Kyriaki Pistevou-Gombaki, Periklis Tsekeris, George Kyrgias
PURPOSE: Hypothalamic-pituitary axis is susceptible to radiotherapy, causing endocrine disorders to childhood cancer survivors. We conducted a systematic review in order to assess the radiation-induced toxicity that leads to hormone secretion abnormalities and their severity in children with brain tumors. METHODS: The data were collected by relevant studies on PubMed and EMBASE. Articles up to December 2016 were included. We selected studies which focused on children patients (<18 yr old) with brain tumors treated with radiotherapy and the consequences for their endocrine system...
September 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29127766/etiologies-of-short-stature-in-a-pediatric-endocrine-clinic-in-southern-thailand
#7
Tansit Saengkaew, Edward McNeil, Somchit Jaruratanasirikul
BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD)...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127748/-issues-related-to-secondary-osteoporosis-associated-with-growth-hormone-deficiency-in-adulthood
#8
Martin Kužma, Peter Jackuliak, Zdenko Killinger, Peter Vaňuga, Juraj Payer
Growth hormone (GH) increases linear bone growth through complex hormonal reactions, mainly mediated by insulin like growth factor 1 (IGF1) that is produced mostly by hepatocytes under influence of GH and stimulates differentiation of epiphyseal prechondrocytes. IGF1 and GH play a key role in the linear bone growth after birth and regulation of bone remodelation during the entire lifespan. It is known that adult GH deficient (GHD) patients have decreased BMD and increased risk of low-impact fractures. Most data gathered thus far on the effect of GH replacement on bone status comprise the measurement of quantitative changes of bone mass...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29127617/effects-of-growth-hormone-treatment-on-lipid-profiles
#9
Toshihide Kubo, Mahoko Furujo, Kyohei Takahashi, Yuki Hyodo, Hiroki Tsuchiya, Mariko Hattori, Shoko Fujinaga, Kenji Urayama
OBJECTIVES: To assess the effects of growth hormone (GH) on lipid profiles in children and whether the effect is pharmacological. METHODS: The authors determined serum levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), non-high-density lipoprotein cholesterol (non-HDL-C), and low-density lipoprotein cholesterol (LDL-C) every year during 3-y GH treatment in 48 GH deficient (GHD) short children and 22 children with short stature born small for gestational age (SGA)...
November 11, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29121520/effects-of-growth-hormone-releasing-hormone-gene-targeted-ablation-on-ghrelin-induced-feeding
#10
Lucia Recinella, Sheila Leone, Claudio Ferrante, Annalisa Chiavaroli, Rugia Shohreh, Chiara Di Nisio, Michele Vacca, Giustino Orlando, Roberto Salvatori, Luigi Brunetti
Impairment of growth hormone (GH) signaling has been associated with increased feeding and adiposity. The gastric hormone ghrelin, in addition to its GH-secretagogue effects, stimulates food intake after both central and peripheral administration. In the present study we further investigated the feeding regulatory role of the ghrelin-GH axis in a mouse model of isolated GH deficiency due to targeted ablation of the GH-releasing hormone (GHRH) gene [GHRH knockout (GHRHKO)]. We evaluated the effects of intracerebroventricular ghrelin administration on feeding behavior, related hypothalamic neuropeptides and neurotransmitters, and serum ghrelin levels in mice homozygous for GHRHKO allele (-/-) and heterozygous (+/-) control animals...
November 6, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29107171/progression-from-isolated-growth-hormone-deficiency-to-combined-pituitary-hormone-deficiency
#11
REVIEW
Manuela Cerbone, Mehul T Dattani
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic)...
October 19, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29103133/recombinant-growth-hormone-therapy-for-prepubertal-children-with-idiopathic-short-stature-in-korea-a-phase-iii-randomized-trial
#12
J Kim, B-K Suh, C W Ko, K-H Lee, C H Shin, J S Hwang, H S Kim, W Y Chung, C J Kim, H-S Han, N Y Kwon, S Y Cho, H-W Yoo, D-K Jin
PURPOSE: Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of Growtropin(®)-II (recombinant human GH) in Korean patients with ISS. METHODS: This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin(®)-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) between 4 and 12 years of age were included in the study...
November 4, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29099758/the-hypothalamic-pituitary-axis-and-autoantibody-related-disorders
#13
REVIEW
Cristina Cocco, Carla Brancia, Giulia Corda, Gian-Luca Ferri
This review summarized different studies reporting the presence of autoantibodies reacting against cells of the pituitary (APAs) and/or hypothalamus (AHAs). Both APAs and AHAs have been revealed through immunofluorescence using different kinds of substrates. Autoantibodies against gonadotropic cells were mainly found in patients affected by cryptorchidism and hypogonadotropic hypogonadism while those against prolactin cells were found in different kinds of patients, the majority without pituitary abnormalities...
November 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29098662/deregulation-of-the-growth-hormone-insulin-like-growth-factor-1-axis-in-adults-with-cystic-fibrosis
#14
C Pascucci, R V De Biase, D Savi, S Quattrucci, A M Isidori, C Lubrano, L Gnessi, A Lenzi
PURPOSE: Patients with cystic fibrosis (CF) present with signs and symptoms that overlap with those of adult growth hormone deficiency (GHD) syndrome: loss of muscle mass, bone fragility and lower stress tolerance. In literature, the prevalence of GHD in pediatric CF patients is higher than general population, but these studies have been performed on children with growth delay. To our knowledge, there are no studies on adult patients. The aim of this paper is to evaluate GH-IGF1 axis in an adult CF population...
November 2, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29097701/two-missense-mutations-in-kcnq1-cause-pituitary-hormone-deficiency-and-maternally-inherited-gingival-fibromatosis
#15
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29095270/pituitary-insufficiency-following-traumatic-thoracic-injury-in-an-adolescent-male-patient-a-case-report-and-literature-review
#16
REVIEW
Aleksandra Gilis-Januszewska, Łukasz Kluczyński, Małgorzata Wilusz, Jacek Pantofliński, Renata Turek-Jabrocka, Dorota Pach, Alicja Hubalewska-Dydejczyk
RATIONALE: Traumatic thoracic injuries in adolescents are rare but could be connected with traumatic brain injuries (TBI) and development of chronic hypopituitarism. Early recognition of these endocrine problems is a significant challenge to clinicians. We present difficulties in diagnosis of hypothalamic-pituitary insufficiency following traumatic thoracic injury in adolescence. We also review the literature of similar cases. PATIENT CONCERNS: We present a case of a 24-years-old male...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29092905/estrogen-induces-egr1-to-fine-tune-its-actions-on-uterine-epithelium-by-controlling-pr-signaling-for-successful-embryo-implantation
#17
Hye-Ryun Kim, Yeon Sun Kim, Jung Ah Yoon, Seung Chel Yang, Mira Park, Dong-Won Seol, Sang Woo Lyu, Jin Hyun Jun, Hyunjung Jade Lim, Dong Ryul Lee, Haengseok Song
The harmonized actions of ovarian E2 and progesterone (P4) regulate the proliferation and differentiation of uterine cells in a spatiotemporal manner. Imbalances between these hormones often lead to infertility and gynecologic diseases. Whereas numerous factors that are involved in P4 signaling have been identified, few local factors that mediate E2 actions in the uterus have been revealed. Here, we demonstrate that estrogen induces the transcription factor, early growth response 1 (Egr1), to fine-tune its actions in uterine epithelial cells (ECs) that are responsible for uterine receptivity for embryo implantation...
November 1, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29084267/overexpression-of-arabidopsis-thaliana-brassinosteroid-related-acyltransferase-1-gene-induces-brassinosteroid-deficient-phenotypes-in-creeping-bentgrass
#18
Yun-Jeong Han, Young Soon Kim, Ok-Jin Hwang, Jeehee Roh, Keya Ganguly, Seong-Ki Kim, Ildoo Hwang, Jeong-Il Kim
Brassinosteroids (BRs) are naturally occurring steroidal hormones that play diverse roles in various processes during plant growth and development. Thus, genetic manipulation of endogenous BR levels might offer a way of improving the agronomic traits of crops, including plant architecture and stress tolerance. In this study, we produced transgenic creeping bentgrass (Agrostis stolonifera L.) overexpressing a BR-inactivating enzyme, Arabidopsis thaliana BR-related acyltransferase 1 (AtBAT1), which is known to catalyze the conversion of BR intermediates to inactive acylated conjugates...
2017: PloS One
https://www.readbyqxmd.com/read/29082892/retinal-neural-and-vascular-structure-in-isolated-growth-hormone-deficiency-children-and-evaluation-of-growth-hormone-treatment-effect-on-retina
#19
Özge Yüce, Nuriye Gökçen Yalçın, Aysun Bideci, Esra Döğer, Hamdi Cihan Emeksiz, Murat Hasanreisoğlu, Zeynep Aktaş, Orhun Çamurdan, Peyami Cinaz
OBJECTIVE: Our aim was to evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes of GH treatment. METHODS: Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer(RNFL), macular thickness(MT) were measured, as well as intraocular pressure(IOP) . The number of retinal vascular branching points were calculated...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29073918/a-first-description-of-the-colombian-national-registry-for-rare-diseases
#20
Heidi Eliana Mateus, Ana María Pérez, Martha Lucía Mesa, Germán Escobar, Jubby Marcela Gálvez, José Ivo Montaño, Martha Lucía Ospina, Paul Laissue
OBJECTIVE: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases...
October 26, 2017: BMC Research Notes
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