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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#1
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
#2
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/28912516/choroidal-thickness-measurements-in-children-with-isolated-growth-hormone-deficiency
#3
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
#4
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/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
#5
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/28898905/taguchi-experimental-design-for-optimization-of-recombinant-human-growth-hormone-production-in-cho-cell-lines-and-comparing-its-biological-activity-with-prokaryotic-growth-hormone
#6
Zahra Sadat Aghili, Sayyed Hamid Zarkesh-Esfahani
Growth hormone deficiency results in growth retardation in children and the GH deficiency syndrome in adults and they need to receive recombinant-GH in order to rectify the GH deficiency symptoms. Mammalian cells have become the favorite system for production of recombinant proteins for clinical application compared to prokaryotic systems because of their capability for appropriate protein folding, assembly, post-translational modification and proper signal. However, production level in mammalian cells is generally low compared to prokaryotic hosts...
September 12, 2017: Drug Research
https://www.readbyqxmd.com/read/28888090/type-3-renal-tubular-acidosis-associated-with-growth-hormone-deficiency
#7
Yin Ping Liew, Timothy A Rogers, Jane L Garb, Holley F Allen, Edward O Reiter, Thomas J Campfield, Vikas R Dharnidharka, Gregory L Braden
BACKGROUND: We identified two boys with type 3 renal tubular acidosis (RTA) and growth hormone deficiency and we sought to differentiate them from children with classic type 1 distal RTA. METHODS: We reviewed all children <6 years of age with RTA referred over a 13-year period and compared the growth response to alkali therapy in these two boys and in 28 children with only type 1 distal RTA. RESULTS: All children with type 1 RTA reached the 5th percentile or higher on CDC growth charts within 2 years of alkali therapy...
September 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28885935/automated-bone-age-analysis-with-lossy-image-files
#8
Jordan E Pinsker, Michael S L Ching, Daniel P Chiles, Michael Lustik, C Becket Mahnke, Veronica J Rooks
BACKGROUND: In our U.S. Department of Defense hospital system, pediatric endocrinology and radiology resources to evaluate bone age radiographs are limited. Our tertiary care center provides expert specialty support to remotely stationed beneficiaries at more than 30 Department of Defense medical facilities using a well-established, asynchronous, Health Insurance Portability and Accountability Act compliant system that allows for physician-to-physician teleconsultation. Up to 14% of these teleconsultations are for endocrinology assessment, many of which include bone age analysis...
September 2017: Military Medicine
https://www.readbyqxmd.com/read/28885623/chronic-endocrine-consequences-of-traumatic-brain-injury-what-is-the-evidence
#9
REVIEW
Marianne Klose, Ulla Feldt-Rasmussen
Traumatic brain injury (TBI) is a major public health problem with potentially debilitating consequences for the individual. Hypopituitarism after TBI has received increasing attention over the past decade; development of the condition as a consequence of TBI was previously hardly mentioned in textbooks on the subject. Hypopituitarism has been reported in more than 25% of patients with TBI and is now thought to be one of the most important causes of treatable morbidity in TBI survivors. However, most clinicians dealing with neuroendocrine diseases and TBI generally do not see such a high incidence of hypopituitarism...
September 8, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28873385/ghrelin-and-growth
#10
Reena Perchard, Peter E Clayton
Ghrelin is a pleiotropic hormone, whose effect on growth hormone secretion, through the growth hormone secretagogue (GHS) receptor, is one of its many actions. Relationships between GHS receptor gene variants and human height, both in healthy individuals and in patients with growth disorders have been identified. These include constitutional delay in growth and puberty, idiopathic short stature, and isolated growth hormone deficiency. In this review, we provide an overview of the role of ghrelin in growth.
2017: Endocrine Development
https://www.readbyqxmd.com/read/28856940/effects-of-human-recombinant-growth-hormone-on-exercise-capacity-cardiac-structure-and-cardiac-function-in-patients-with-adult-onset-growth-hormone-deficiency
#11
S Gonzalez, J D Windram, T Sathyapalan, Z Javed, A L Clark, S L Atkin
Objective Epidemiological studies suggest that adult-onset growth hormone deficiency (AGHD) might increase the risk of death from cardiovascular causes. Methods This was a 6-month double-blind, placebo-controlled, randomised, cross-over trial followed by a 6-month open-label phase. Seventeen patients with AGHD received either recombinant human growth hormone (rGH) (0.4 mg injection daily) or placebo for 12 weeks, underwent washout for 2 weeks, and were then crossed over to the alternative treatment for a further 12 weeks...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28834083/microstructural-white-matter-tract-alteration-in-prader-willi-syndrome-a-diffusion-tensor-imaging-study
#12
Lauren J Rice, Jim Lagopoulos, Michael Brammer, Stewart L Einfeld
Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways. To date, only one study has used DTI to examine white matter alterations in PWS. However, that study used selected regions of interest, rather than a whole brain analysis...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28822018/the-prevalence-of-growth-hormone-deficiency-in-survivors-of-subarachnoid-haemorrhage-results-from-a-large-single-centre-study
#13
Sumithra Giritharan, Joanna Cox, Calvin J Heal, David Hughes, Kanna Gnanalingham, Tara Kearney
OBJECTIVE: The variation in reported prevalence of growth hormone deficiency (GHD) post subarachnoid haemorrhage (SAH) is mainly due to methodological heterogeneity. We report on the prevalence of GHD in a large cohort of patients following SAH, when dynamic and confirmatory pituitary hormone testing methods are systematically employed. DESIGN: In this cross-sectional study, pituitary function was assessed in 100 patients following SAH. Baseline pituitary hormonal profile measurement and glucagon stimulation testing (GST) was carried out in all patients...
August 18, 2017: Pituitary
https://www.readbyqxmd.com/read/28819906/correlation-between-adrenal-function-growth-hormone-secretion-and-insulin-sensitivity-in-children-with-idiopathic-growth-hormone-deficiency
#14
A Ciresi, S Radellini, E Vigneri, V Guarnotta, J Bianco, M G Mineo, C Giordano
PURPOSE: Patients with growth hormone deficiency (GHD) demonstrate an increased cortisol/cortisone ratio which could potentially explain the metabolic features of GHD, while GH treatment (GHT) could increase the cortisol metabolism. METHODS: In 35 children (27 M, mean age 10.1 years) with idiopathic GHD at baseline and after 12 months of GHT and in 25 controls, in addition to metabolic parameters, we assessed adrenal function by morning serum cortisol, its peak, and its area under the curve (AUCCOR) during insulin tolerance test (ITT)...
August 18, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28806841/genetic-polymorphisms-as-predictive-markers-of-response-to-growth-hormone-therapy-in-children-with-growth-hormone-deficiency
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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