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Growth hormone deficiency

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https://www.readbyqxmd.com/read/28445302/cholestasis-caused-by-panhypopituitarism-and-acquired-cytomegalovirus-infection-in-a-2-month-old-male-infant-a-case-report
#1
U Chan, Wai-Tao Chan, Wei-Hsin Ting, Che-Sheng Ho, Hsi-Che Liu, Hung-Chang Lee
RATIONALE: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. PATIENT CONCERNS: The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28444954/clinical-presentation-and-outcome-of-children-with-central-diabetes-insipidus-associated-with-a-self-limited-or-transient-pituitary-stalk-thickening-diagnosed-as-infundibuloneurohypophysitis
#2
J Schaefers, M Cools, K De Waele, I Gies, V Beauloye, P Lysy, I Francois, D Beckers, J De Schepper
OBJECTIVE: Despite lymphocytic or autoimmune infundibuloneurohypophysitis (INH) is an increasingly recognized etiology in children with central diabetes insipidus, clinical data on epidemiology (clinical evolution, predisposing factors, complications), diagnosis and management of this entity are limited and mostly based on published case reports. The aim of this study was to gain a broader insight in the natural history of this disease by analyzing the clinical presentation, radiological pituitary stalk changes, associated autoimmunity and hormonal deficiencies in children with CDI and a self-limiting or transient stalk thickening (ST), diagnosed as autoimmune INH, during the last 15 years in four Belgian university hospitals...
April 26, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28443260/growth-without-growth-hormone-in-combined-pituitary-hormone-deficiency-caused-by-pituitary-stalk-interruption-syndrome
#3
Sang Soo Lee, A-Leum Han, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, So Hyun Park, Min Ho Jung, Byung-Kyu Suh
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS)...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28443121/hormonal-and-nutritional-features-in-contrasting-rootstock-mediated-tomato-growth-under-low-phosphorus-nutrition
#4
Cristina Martínez-Andújar, Juan M Ruiz-Lozano, Ian C Dodd, Alfonso Albacete, Francisco Pérez-Alfocea
Grafting provides a tool aimed to increase low-P stress tolerance of crops, however, little is known about the mechanism (s) by which rootstocks can confer resistance to P deprivation. In this study, 4 contrasting groups of rootstocks from different genetic backgrounds (Solanum lycopersicum var. cerasiforme and introgression and recombinant inbred lines derived from the wild relatives S. pennellii and S. pimpinellifolium) were grafted to a commercial F1 hybrid scion and cultivated under control (1 mM, c) and P deficient (0...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28443031/the-high-calcium-high-phosphorus-rescue-diet-is-not-suitable-to-prevent-secondary-hyperparathyroidism-in-vitamin-d-receptor-deficient-mice
#5
Sarah M Grundmann, Corinna Brandsch, Daniela Rottstädt, Hagen Kühne, Gabriele I Stangl
The vitamin D receptor (VDR) knockout (KO) mouse is a common model to unravel novel metabolic functions of vitamin D. It is recommended to feed these mice a high calcium (2%), high phosphorus (1.25%) diet, termed rescue diet (RD) to prevent hypocalcaemia and secondary hyperparathyroidism. First, we characterized the individual response of VDR KO mice to feeding a RD and found that the RD was not capable of normalizing the parathyroid hormone (PTH) concentrations in each VDR KO mouse. In a second study, we aimed to study whether RD with additional 1 and 2% calcium (in total 3 and 4% of the diet) is able to prevent secondary hyperparathyroidism in the VDR KO mice...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28442470/late-outcomes-in-children-with-langerhans-cell-histiocytosis
#6
Tin Wai Chow, Wing Kwan Leung, Frankie Wai Tsoi Cheng, Shekhar Medhukar Kumta, Winnie Chiu Wing Chu, Vincent Lee, Matthew Ming Kong Shing, Chi Kong Li
INTRODUCTION: Langerhans cell histiocytosis (LCH) is a rare disease with diverse clinical courses. Despite improvement in survival outcomes in the recent decades, sequelae of the disease remain a concern. This study aimed to provide information on the long-term outcomes in patients with LCH, particularly on the sequelae and any associated factors. METHOD: Medical records of patients with diagnosis of LCH and being managed in our centre were retrospectively reviewed...
April 25, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28436486/muscle-wasting-and-cachexia-in-heart-failure-mechanisms-and-therapies
#7
REVIEW
Stephan von Haehling, Nicole Ebner, Marcelo R Dos Santos, Jochen Springer, Stefan D Anker
Body wasting is a serious complication that affects a large proportion of patients with heart failure. Muscle wasting, also known as sarcopenia, is the loss of muscle mass and strength, whereas cachexia describes loss of weight. After reaching guideline-recommended doses of heart failure therapies, the most promising approach to treating body wasting seems to be combined therapy that includes exercise, nutritional counselling, and drug treatment. Nutritional considerations include avoiding excessive salt and fluid intake, and replenishment of deficiencies in trace elements...
April 24, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28428364/role-of-oestrogen-receptor-signaling-in-skeletal-response-to-leptin-in-female-ob-ob-mice
#8
Russell T Turner, Kenneth A Philbrick, Amida Kuah, Adam J Branscum, Urszula T Iwaniec
Leptin, critical in regulation of energy metabolism, is also important for normal bone growth, maturation and turnover. Compared to wild type (WT) mice, bone mass is lower in leptin-deficient ob/ob mice; osteopenia in growing ob/ob mice is due to decreased bone accrual, and is associated with reduced longitudinal bone growth, impaired cancellous bone maturation and increased marrow adipose tissue (MAT). However, leptin deficiency also results in gonadal dysfunction, disrupting production of gonadal hormones which regulate bone growth and turnover...
April 20, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28428362/hepatic-lipid-accumulation-cause-and-consequence-of-dysregulated-glucoregulatory-hormones
#9
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/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#10
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European 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
#11
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/28425851/altered-structure-and-function-of-adipose-tissue-in-long-lived-mice-with-growth-hormone-related-mutations
#12
Justin Darcy, Samuel McFadden, Andrzej Bartke
A major focus of biogerontology is elucidating the role(s) of the endocrine system in aging and the accumulation of age-related diseases. Endocrine control of mammalian longevity was first reported in Ames dwarf (Prop1(df)) mice, which are long-lived due to a recessive Prop1 loss-of-function mutation resulting in deficiency of growth hormone (GH), thyroid-stimulating hormone, and prolactin. Following this report, several other GH-related mutants with altered longevity have been described including long-lived Snell dwarf and growth hormone receptor knockout mice, and short-lived GH overexpressing transgenic mice...
March 21, 2017: Adipocyte
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
#13
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
#14
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/28413529/an-evaluation-of-neuroendocrine-dysfunction-following-acute-aneurysmal-subarachnoid-hemorrhage-a-prospective-study
#15
Awadhesh Kumar Jaiswal, Subhash Yadav, Rabi Narayan Sahu, Anant Mehrotra, Sanjay Behari, Ashok Kumar Mahapatra
OBJECTIVE: The aim was to investigate the incidence and pattern of neuroendocrine changes in cases of acute aneurysmal subarachnoid hemorrhage (SAH). MATERIALS AND METHODS: Endocrine assessment was performed in 100 consecutive cases of acute aneurysmal SAH presenting within 7 days of ictus. The gonadotropic, somatotrophic, thyrotropic, and corticotrophic axes were evaluated for their possible dysfunction. RESULTS: A total of 100 cases (38 males, 62 females; age range - 17-76 years; mean age - 43...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28412963/posttranslationally-modified-progesterone-receptors-direct-ligand-specific-expression-of-breast-cancer-stem-cell-associated-gene-programs
#16
Todd P Knutson, Thu H Truong, Shihong Ma, Nicholas J Brady, Megan E Sullivan, Ganesh Raj, Kathryn L Schwertfeger, Carol A Lange
BACKGROUND: Estrogen and progesterone are potent breast mitogens. In addition to steroid hormones, multiple signaling pathways input to estrogen receptor (ER) and progesterone receptor (PR) actions via posttranslational events. Protein kinases commonly activated in breast cancers phosphorylate steroid hormone receptors (SRs) and profoundly impact their activities. METHODS: To better understand the role of modified PRs in breast cancer, we measured total and phospho-Ser294 PRs in 209 human breast tumors represented on 2754 individual tissue spots within a tissue microarray and assayed the regulation of this site in human tumor explants cultured ex vivo...
April 17, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28408643/gastrin-induces-parathyroid-hormone-like-hormone-expression-in-gastric-parietal-cells
#17
Asma Al Menhali, Theresa M Keeley, Elise S Demitrack, Linda C Samuelson
Parietal cells play a fundamental role in stomach maintenance, not only by creating a pathogen-free environment through the production of gastric acid, but also by secreting growth factors important for homeostasis of the gastric epithelium. The gastrointestinal hormone gastrin is known to be a central regulator of both parietal cell function and gastric epithelial cell proliferation and differentiation. Our previous gene expression profiling studies of mouse stomach identified parathyroid hormone-like hormone (PTHLH) as a potential gastrin-regulated gastric growth factor...
April 13, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28402530/mutations-in-the-human-robo1-gene-in-pituitary-stalk-interruption-syndrome
#18
Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken McElreavey, Raja Brauner
Context: Pituitary stalk interruption syndrome (PSIS) is characterised by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases. Objective: To identify genetic causes of PSIS by exome sequencing...
April 11, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28400640/a-pilot-study-evaluating-therapeutic-response-of-different-dosage-of-oral-glucocorticoid-in-two-children-with-familial-glucocorticoid-deficiency-presenting-with-diffuse-mucocutaneous-hyperpigmentation
#19
Uttam Kumar Sarkar, Nilendu Sarma, Sambreeta Debbarma, Asok Kumar Mandal, Ashok Kumar Bala
INTRODUCTION: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive potentially life-threatening condition, characterized by glucocorticoid deficiency, preserved aldosterone/renin secretion, and secondary rise in plasma adrenocorticotropic hormone level. This occurs due to either mutation in adrenocorticotropic receptor (25%, FGD Type-1) or in the MC2 receptor accessory protein (15%-20%). However, in about 50% patients, no identifiable mutations have been identified. Clinically, it manifests with weakness, fatigue, weight loss, anorexia, nausea, vomiting, diarrhea, abdominal pain, hypoglycemia, and hypothermia...
March 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28399519/pharmacokinetic-and-pharmacodynamic-modeling-of-mod-4023-a-long-acting-human-growth-hormone-in-growth-hormone-deficiency-children
#20
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
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