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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/28428362/hepatic-lipid-accumulation-cause-and-consequence-of-dysregulated-glucoregulatory-hormones
#1
Caroline E Geisler, Benjamin Jennings Renquist
Fatty liver can be diet, endocrine, genetic, viral, or drug induced. Independent of cause, hepatic lipid accumulation promotes systemic metabolic dysfunction. By acting as peroxisome proliferator activated receptor (PPAR) ligands, hepatic non-esterified fatty acids upregulate expression of gluconeogenic, beta-oxidative, lipogenic, and ketogenic genes, promoting hyperglycemia, hyperlipidemia, and ketosis. The typical hormonal environment in fatty liver disease consists of hyperinsulinemia, hyperglucagonemia, hypercortisolemia, growth hormone deficiency, and elevated sympathetic tone...
April 20, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28426343/de-novo-mutation-of-kat6b-gene-causing-atypical-say-barber-biesecker-young-simpson-syndrome-or-genitopatellar-syndrome
#2
Guoqiang Li, Niu Li, Juan Li, Yu Ding, Tingting Yu, Xiumin Wang, Jian Wang
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28422341/late-pubertal-growth-spurt-in-a-girl-with-growth-hormone-deficiency-is-kaufmann-therapy-effective-in-a-girl-with-short-stature-who-responds-poorly-to-growth-hormone-therapy-and-estrogen-replacement-therapy
#3
Katsuhiko Yasuda
A Japanese senior high school girl aged 18 years and 5 months with growth hormone deficiency was referred for primary amenorrhea. Her height was 1.36 m, and her bodyweight was 23.5 kg. She had received daily growth hormone therapy from the age of 5 years. Growth hormone therapy was discontinued at the age of 16 years and 11 months, and estrogen-replacement therapy (ERT) was started to stimulate secondary sexual characteristics. Although ERT was performed until the age of 18 years and 11 months, genital bleeding did not occur...
April 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28421564/erratum-to-long-term-safety-and-efficacy-of-omnitrope-%C3%A2-in-adults-with-growth-hormone-deficiency-italian-interim-analysis-of-the-patro-adults-study
#4
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
No abstract text is available yet for this article.
April 18, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28399519/pharmacokinetic-and-pharmacodynamic-modeling-of-mod-4023-a-long-acting-human-growth-hormone-in-growth-hormone-deficiency-children
#5
Dennis M Fisher, Ron G Rosenfeld, Michal Jaron-Mendelson, Leanne Amitzi, Ronit Koren, Gili Hart
BACKGROUND/AIMS: MOD-4023 is a long-acting human growth hormone (hGH) in clinical trials for the treatment of growth hormone deficiency (GHD). A key goal is maintenance of serum concentrations of insulin-like growth factor (IGF) 1 within normal range throughout GH dosing. The study aimed to develop a pharmacokinetic model for MOD-4023 and a pharmacodynamic model for the effect of MOD-4023 on IGF-1 to allow estimation of peak and mean IGF-1 and to identify the optimal IGF-1 sampling day...
April 11, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28397663/-a-rare-type-of-severe-obesity-in-children-and-adolescents
#6
Sara Østergaard Christensen, Kirsten Holm, Hanne Buciek Hove
A four-year-old girl was referred to a paediatric department with low height, obesity and hypothyroidism. Her paraclinical tests were characteristic with elevated P-parathyroid hormone concentration, hypothyroidism, growth hormone deficiency, abnormal phenotype with brachydactyly, tooth problems and mental retardation, which led to a suspicion of Albright's hereditary osteodystrophy (AHO). The diagnosis was verified by molecular genetic testing. Less than 1% of children with obesity have an endocrine disorder, and AHO is one of them...
February 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28397185/validation-of-the-italian-quality-of-life-in-short-stature-youth-qolissy-questionnaire
#7
J Quitmann, A Giammarco, M Maghnie, F Napoli, I Di Giovanni, C Carducci, A Mohn, M Bullinger, R Sommer
PURPOSE: The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a disease-specific instrument developed to assess health-related quality of life (HrQoL) in children with short stature. While the original instrument was simultaneously developed in five European countries, this study describes the results of the Italian QoLISSY translation, cultural adaptation, and validation. METHODS: Focus group discussions and a cognitive debriefing process with children (N = 12) diagnosed with growth hormone deficiency or idiopathic short stature and one parent each, as well as parents of younger children (N = 20) were conducted to examine the linguistic and content validity of the Italian version...
April 10, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28386679/understanding-treatment-burden-for-children-treated-for-growth-hormone-deficiency
#8
Meryl Brod, Lise Højbjerre, Suzanne Lessard Alolga, Jane F Beck, Lars Wilkinson, Michael Højby Rasmussen
OBJECTIVE: Growth hormone deficiency (GHD) treatment for children requires growth hormone injections, typically administered daily until the child reaches adult height. Child GHD treatment burden is not well understood and no disease-specific measures exist to assess this burden. The purpose of the study was to explore GHD treatment burden for children and their parents by conducting concept elicitation interviews supporting a theoretical model of the impact of GHD treatment. METHODS: Four focus groups (in Germany) and 52 telephone interviews (in the UK and USA) were conducted with children/adolescents with GHD aged 8 to <13 years and parents of children with GHD aged ≥4 to <13 years...
April 6, 2017: Patient
https://www.readbyqxmd.com/read/28349199/amyloid-%C3%AE-accumulation-in-the-cns-in-human-growth-hormone-recipients-in-the-uk
#9
Diane L Ritchie, Peter Adlard, Alexander H Peden, Suzanne Lowrie, Margaret Le Grice, Kimberley Burns, Rosemary J Jackson, Helen Yull, Michael J Keogh, Wei Wei, Patrick F Chinnery, Mark W Head, James W Ironside
Human-to-human transmission of Creutzfeldt-Jakob disease (CJD) has occurred through medical procedures resulting in iatrogenic CJD (iCJD). One of the commonest causes of iCJD was the use of human pituitary-derived growth hormone (hGH) to treat primary or secondary growth hormone deficiency. As part of a comprehensive tissue-based analysis of the largest cohort yet collected (35 cases) of UK hGH-iCJD cases, we describe the clinicopathological phenotype of hGH-iCJD in the UK. In the 33/35 hGH-iCJD cases with sufficient paraffin-embedded tissue for full pathological examination, we report the accumulation of the amyloid beta (Aβ) protein associated with Alzheimer's disease (AD) in the brains and cerebral blood vessels in 18/33 hGH-iCJD patients and for the first time in 5/12 hGH recipients who died from causes other than CJD...
March 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28346917/endocrine-long-term-follow-up-of-children-with-neurofibromatosis-type-1-and-optic-pathway-glioma%C3%A2
#10
Ilaria Sani, Assunta Albanese
BACKGROUND/AIMS: Children with optic pathway glioma (OPG) face sequelae related to tumour location and treatment modalities. We aimed to assess the prevalence of hypothalamic-pituitary dysfunctions in children with neurofibromatosis type 1 (NF1) and OPG who did not receive radiotherapy or surgical resection. The causative role of tumour location on endocrinopathy development is investigated. METHODS: A retrospective follow-up study of 40 children with NF1 and OPG evaluated between August 1996 and May 2015 was undertaken...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28338427/long-term-endocrine-outcome-of-suprasellar-arachnoid-cysts
#11
Ji Yeoun Lee, Young Ah Lee, Hae Woon Jung, Sangjoon Chong, Ji Hoon Phi, Seung-Ki Kim, Choong-Ho Shin, Kyu-Chang Wang
OBJECTIVE Due to their distinct location, suprasellar arachnoid cysts are known to cause a wide variety of problems, such as hydrocephalus, endocrine symptoms, and visual abnormalities. The long-term outcome of these cysts has not been elucidated. To find out the long-term outcome of suprasellar arachnoid cysts, a retrospective review of the patients was performed. The neurological and endocrine symptoms were thoroughly reviewed. METHODS Forty-five patients with suprasellar arachnoid cysts, with an average follow-up duration of 9...
March 24, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28332357/rare-frequency-of-mutations-in-pituitary-transcription-factor-genes-in-combined-pituitary-hormone-or-isolated-growth-hormone-deficiencies-in-korea
#12
Jin Ho Choi, Chang Woo Jung, Eungu Kang, Yoon Myung Kim, Sun Hee Heo, Beom Hee Lee, Gu Hwan Kim, Han Wook Yoo
PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD)...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#13
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326739/a-case-of-pituitary-stalk-interruption-syndrome-with-intermittent-seizures-as-the-first-presentation
#14
Juan Li, Hongwei Jia, Anindita Chakraborty, Zhihong Gao
Pituitary stalk interruption syndrome (PSIS) is a congenital disease with isolated growth hormone deficiency (GHD) or multiple anterior pituitary hormone deficiencies (MPHD). The typical clinical manifestations of PSIS are growth retardation, hypoglycemia or delayed pubertal development. However, few reports showed cases of PSIS were diagnosed with acute epileptic seizures accompanied by hyponatremia. Here, we report an 18-year-old female presenting with episodes of intermittent seizures for 13 years. The electrolyte examination on many occasions has shown hyponatremia, even as low as 99...
December 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28325825/very-long-term-sequelae-of-craniopharyngioma
#15
Mark Wijnen, Marry M van den Heuvel-Eibrink, Joseph A M J L Janssen, Coriene E Catsman-Berrevoets, Erna M C Michiels, Marie-Lise C van Veelen-Vincent, Alof H G Dallenga, Jan H van den Berge, Carolien M van Rij, A J Van der Lely, Sebastian J C M M Neggers
OBJECTIVE: Studies investigating long-term health conditions in patients with craniopharyngioma are limited by short follow-up durations and do generally not compare long-term health effects according to initial craniopharyngioma treatment approach. In addition, studies comparing long-term health conditions between patients with childhood- and adult-onset craniopharyngioma report conflicting results. The objective of this study was to analyse a full spectrum of long-term health effects in patients with craniopharyngioma according to initial treatment approach and age group at craniopharyngioma presentation...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28315851/response-to-growth-hormone-deficiency-in-mitochondrial-disorders
#16
Jose Bernardo Quintos, Juanita K Hodax, Bryn A Gonzales-Ellis, Chanika Phornphutkul, Michael P Wajnrajch, Charlotte M Boney
No abstract text is available yet for this article.
March 20, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28306537/clinical-features-of-girls-with-short-stature-among-inv-9-turner-45-x-and-control-individuals
#17
Xuefeng Chen, Xiumin Wang, Guanping Dong, Junfen Fu, Wei Wu, Youjun Jiang
BACKGROUND: The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear. METHODS: This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared. RESULTS: Height standard deviation score (SDS) values at diagnosis were -2...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#18
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28283728/survey-of-gadolinium-based-contrast-agent-utilization-among-the-members-of-the-society-for-pediatric-radiology-a-quality-and-safety-committee-report
#19
Einat Blumfield, Michael M Moore, Mary K Drake, Thomas R Goodman, Kristopher N Lewis, Laura T Meyer, Thang D Ngo, Christina Sammet, Arta Luana Stanescu, David W Swenson, Thomas L Slovis, Ramesh S Iyer
BACKGROUND: Gadolinium-based contrast agents (GBCAs) have been used for magnetic resonance (MR) imaging over the last three decades. Recent reports demonstrated gadolinium retention in patients' brains following intravenous administration. Since gadolinium is a highly toxic heavy metal, there is a potential for adverse effects from prolonged retention or deposition, particularly in children. For this reason, the Society (SPR) for Pediatric Radiology Quality and Safety committee conducted a survey to evaluate the current status of GBCAs usage among pediatric radiologists...
March 10, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28247315/understanding-burden-of-illness-for-child-growth-hormone-deficiency
#20
Meryl Brod, Suzanne Lessard Alolga, Jane F Beck, Lars Wilkinson, Lise Højbjerre, Michael Højby Rasmussen
PURPOSE: Research demonstrates that children and adolescents with growth hormone deficiency (GHD) are impacted in multiple ways beyond their short stature; however, there are no disease-specific measures to assess these impacts. The purpose of this study was to examine the burden of GHD on children and adolescents, and to conduct concept elicitation to develop a model of the impact of GHD to support a disease-specific outcome measure. METHODS: Four focus groups and 52 telephone interviews were conducted with children with GHD and parents/guardians of children with GHD to understand the experience and impacts from the child's perspective, reported by children or parent-observers about the impact on the child...
February 28, 2017: Quality of Life Research
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