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https://www.readbyqxmd.com/read/28626954/isolated-growth-hormone-deficiency-due-to-the-r183h-mutation-in-gh1-clinical-analysis-of-a-four-generation-family
#1
Catalina Cabrera-Salcedo, Amy S Shah, Melissa Andrew, Leah Tyzinski, Vivian Hwa, Iris Gutmark-Little, Philippe Backeljauw, Andrew Dauber
The R183H mutation in the growth hormone gene (GH1) is a well-described genetic variant that causes autosomal dominant isolated growth hormone deficiency (IGHD) type II. Previous studies have demonstrated that individuals with this mutation have releasable growth hormone (GH) stores, but such release is severely impaired. Hess et al. reported variable height deficits (-4.5 to -1.0 SDS), variable IGF-I concentrations (-2.9 to -0.8 SDS), and low but detectable, or even normal stimulated peak GH in several patients with the R183H mutation...
June 19, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28588003/pituitary-adenoma-apoplexy-in-an-adolescent-a-case-report-and-review-of-the-literature
#2
Hero Zijlker, Sebastian Schagen, Jan Maarten Wit, Biermasz Nienke, Wouter van Furth, Wilma Oostdijk
We present a 13-year-old boy who became progressively sleepy and experienced a sudden headache with vomiting and fever. Laboratory testing showed hypoglycemia, multiple pituitary hormonal deficiencies and elevated C-Reactive Protein (CRP). A cranial MRI showed an opaque sphenoid sinus and an intrasellar mass suspect for hemorrhage, so that we suspected a pituitary apoplexy (PA) originating from a non-functioning adenoma, although a pituitary abscess could not completely be excluded. The boy was treated with antibiotics, hydrocortisone and levothyroxine and a close follow-up to monitor the clinical course...
June 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28557628/identification-of-endothelin-converting-enzyme-2-as-an-autoantigen-in-autoimmune-polyendocrine-syndrome-type-1
#3
Casey J A Smith-Anttila, Sophie Bensing, Mohammad Alimohammadi, Frida Dalin, Mikael Oscarson, Ming-Dong Zhang, Jaakko Perheentupa, Eystein S Husebye, Jan Gustafsson, Peyman Björklund, Anette Fransson, Gunnel Nordmark, Lars Rönnblom, Antonella Meloni, Rodney J Scott, Tomas Hökfelt, Patricia A Crock, Olle Kämpe
Autoimmune polyendocrine syndrome type 1 (APS1) is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (AIRE) gene. High titer autoantibodies are a characteristic feature of APS1 and are often associated with particular disease manifestations. Pituitary deficits are reported in up to 7% of all APS1 patients, with immunoreactivity to pituitary tissue frequently reported. We aimed to isolate and identify specific pituitary autoantigens in patients with APS1. Immunoscreening of a pituitary cDNA expression library identified endothelin-converting enzyme (ECE)-2 as a potential candidate autoantigen...
May 30, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28496331/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-turner-syndrome-monocentric-study
#4
Simona Bucerzan, Diana Miclea, Radu Popp, Camelia Alkhzouz, Cecilia Lazea, Ioan Victor Pop, Paula Grigorescu-Sido
INTRODUCTION: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. AIM: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28465267/outcome-of-endoscopic-transsphenoidal-surgery-for-acromegaly
#5
Jung Hee Kim, Kyu Yeon Hur, Jung Hyun Lee, Ji Hyun Lee, Young-Bem Se, Hey In Kim, Seung Hoon Lee, Do-Hyun Nam, Seong Yeon Kim, Kwang-Won Kim, Doo-Sik Kong, Yong Hwy Kim
OBJECTIVE: Endoscopic transsphenoidal surgery has recently been introduced in pituitary surgery. We investigated outcomes and complications of endoscopic surgery in two referral centers in Korea. METHODS: We enrolled 134 patients with acromegaly (microadenomas, n=15; macroadenomas, n=119) who underwent endoscopic transsphenoidal surgery at Seoul National University Hospital (n=74) and Samsung Medical center (n=60) between Jan 2009 and Mar 2016. Remission was defined as having a normal IGF-1 and a suppressed GH less than 1 ng/mL during an oral glucose tolerance test...
April 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28193628/management-of-endocrine-disease-neuroendocrine-surveillance-and-management-of-neurosurgical-patients
#6
REVIEW
Aoife Garrahy, Mark Sherlock, Christopher J Thompson
Advances in the management of traumatic brain injury, subarachnoid haemorrhage and intracranial tumours have led to improved survival rates and an increased focus on quality of life of survivors. Endocrine sequelae of the acute brain insult and subsequent neurosurgery, peri-operative fluid administration and/or cranial irradiation are now well described. Unrecognised acute hypopituitarism, particularly ACTH/cortisol deficiency and diabetes insipidus, can be life threatening. Although hypopituitarism may be transient, up to 30% of survivors of TBI have chronic hypopituitarism, which can diminish quality of life and hamper rehabilitation...
May 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28007843/clinical-characteristics-and-management-of-growth-hormone-excess-in-patients-with-mccune-albright-syndrome
#7
Yong Yao, Yang Liu, Linjie Wang, Kan Deng, Hongbo Yang, Lin Lu, Feng Feng, Bing Xing, Hui You, Zimeng Jin, Renzhi Wang, Hui Pan, Shi Chen, Huijuan Zhu
OBJECTIVE: McCune-Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS and analyze the responses of these patients to treatments. DESIGN: Retrospective clinical study. METHODS: Clinical data from 52 MAS patients were analyzed...
March 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27965204/effects-of-paternal-obesity-on-growth-and-adiposity-of-male-rat-offspring
#8
Virginie Lecomte, Christopher A Maloney, Kristy W Wang, Margaret J Morris
Emerging evidence suggests that paternal obesity plays an important role in offspring health. Our previous work using a rodent model of diet-induced paternal obesity showed that female offspring from high-fat diet (HFD)-fed fathers develop glucose intolerance due to impairment of pancreatic insulin secretion. Here, we focused on the health outcomes of male offspring from HFD-fed fathers. Male Sprague-Dawley rats (3 wk old) were fed control (CD-F0) or HFD (HFD-F0) for 12 wk before mating with control-fed females...
February 1, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27878771/growth-hormone-deficiency-and-hypopituitarism-in-adults-after-complicated-mild-traumatic-brain-injury
#9
Stefania Giuliano, Serafina Talarico, Lucia Bruno, Francesco Beniamino Nicoletti, Claudio Ceccotti, Antonino Belfiore
PURPOSE: Traumatic brain injury is considered the main cause of hypopituitarism in adults, and GH deficiency appears to be the most frequent pituitary deficit. Most of the available studies have included all degrees of severity of trauma. We aimed to assess pituitary function and GH deficiency in adult patients at different time lengths after complicated mild TBI according to Glasgow Coma Scale. We also aimed to evaluate whether mild TBI patients with GH deficiency had developed alterations in the glycolipid profile...
November 23, 2016: Endocrine
https://www.readbyqxmd.com/read/27820671/contribution-of-lhx4-mutations-to-pituitary-deficits-in-a-cohort-of-417-unrelated-patients
#10
Enzo Cohen, Mohamad Maghnie, Nathalie Collot, Juliane Leger, Florence Dastot, Michel Polak, Sophie Rose, Philippe Touraine, Philippe Duquesnoy, Maïté Tauber, Bruno Copin, Anne-Marie Bertrand, Frederic Brioude, Daniela Larizza, Thomas Edouard, Laura González Briceño, Irène Netchine, Isabelle Oliver-Petit, Marie-Laure Sobrier, Serge Amselem, Marie Legendre
Context: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. Objective: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the associated phenotypes, and to characterize the functional impact of the identified variants and the respective role of the 2 LIM domains of LHX4...
January 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27778105/can-early-clinical-parameters-predict-post-traumatic-pituitary-dysfunction-in-severe-traumatic-brain-injury
#11
O Nemes, N Kovacs, Sz Szujo, B Bodis, L Bajnok, A Buki, T Doczi, E Czeiter, E Mezosi
BACKGROUND: Post-traumatic hypopituitarism is a major complication after severe head trauma. The aim of our study was to evaluate the possible role of early clinical parameters in the development of endocrine deficits. METHODS: Data on endocrine function, on-admission clinical-, laboratory-, and ICU-monitored parameters were available in 63 patients of the surviving 86 severe head injury patients (post-resuscitation GCS under 8) treated at one neurosurgical center during a 10-year period...
December 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27712965/systemic-inflammation-growth-factors-and-linear-growth-in-the-setting-of-infection-and-malnutrition
#12
Mark D DeBoer, Rebecca J Scharf, Alvaro M Leite, Alessandra Férrer, Alexandre Havt, Relana Pinkerton, Aldo A Lima, Richard L Guerrant
OBJECTIVES: Deficits in weight gain and linear growth are seen frequently among children in areas where malnutrition and recurrent infections are common. Although both inflammation and malnutrition can result in growth hormone (GH) resistance, the interrelationships of infection, inflammation, and growth deficits in developing areas remain unclear. The aim of this study was to evaluate relationships between low levels of systemic inflammation, growth factors, and anthropometry in a case-control cohort of underweight and normal weight children in northern Brazil...
January 2017: Nutrition
https://www.readbyqxmd.com/read/27668645/growth-hormone-deficiency-in-children-and-young-adults
#13
Joanna Oświęcimska, Wojciech Roczniak, Agata Mikołajczak, Agnieszka Szymlak
Growth hormone (GH) is a naturally occurring polypeptide hormone produced by somatotropic cells in the anterior pituitary. The main function of somatotropin is stimulation of linear growth, but it also affects carbohydrate metabolism, increases bone mass and has potent lipolytic, antinatriuretic and antidiuretic effects. Growth hormone deficiency (GHD) may occur both in children and in adults. At the moment there is no gold standard for the diagnosis of GHD, and the diagnosis should take into account clinical, auxological, biochemical and radiological changes and, if necessary, genetic testing...
September 13, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/27635959/congress-of-neurological-surgeons-systematic-review-and-evidence-based-guideline-for-pretreatment-endocrine-evaluation-of-patients-with-nonfunctioning-pituitary-adenomas
#14
Maria Fleseriu, Mary E Bodach, Luis M Tumialan, Vivien Bonert, Nelson M Oyesiku, Chirag G Patil, Zachary Litvack, Manish K Aghi, Gabriel Zada
BACKGROUND: Nonfunctioning pituitary adenomas (NFPAs) are among the most common pituitary lesions and may present with hypopituitarism and/or hyperprolactinemia. OBJECTIVE: To review the existing literature as it pertains to preoperative endocrine assessment in the workup for NFPAs. METHODS: A systematic review methodology was utilized to identify and screen articles assessing the role and results of preoperative laboratory assessment in patients with NFPAs...
October 2016: Neurosurgery
https://www.readbyqxmd.com/read/27582416/effect-of-mesenchymal-stem-cells-and-galantamine-nanoparticles-in-rat-model-of-alzheimer-s-disease
#15
Shubham Misra, Kanwaljit Chopra, Uma Nahar Saikia, Vivek Ranjan Sinha, Rakesh Sehgal, Manish Modi, Bikash Medhi
AIM: The present study investigated the efficacy of bone marrow-derived mesenchymal stem cells (BM-MSCs) in combination with galantamine hydrobromide-loaded solid lipid nanoparticles (GH-SLNs) in intracerebroventricular (ICV)-isoproterenol-induced rat model of Alzheimer's disease. MATERIALS & METHODS: BM-MSCs were harvested by dissecting femur and tibia of 8-10-week-old Wistar rats. 1 × 10(6) cells were administered intravenously once in ICV-isoproterenol-induced rats followed by GH-SLNs (5 mg/kg) for 3 weeks...
October 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27487097/long-term-outcomes-genetics-and-pituitary-morphology-in-patients-with-isolated-growth-hormone-deficiency-and-multiple-pituitary-hormone-deficiencies-a-single-centre-experience-of-four-decades-of-growth-hormone-replacement
#16
Julia Rohayem, Hendrik Drechsel, Bettina Tittel, Gabriele Hahn, Roland Pfaeffle, Angela Huebner
BACKGROUND: Growth hormone (GH) has been used to treat children with GH deficiency (GHD) since 1966. AIMS: Using a combined retrospective and cross-sectional approach, we explored the long-term outcomes of patients with GHD, analysed factors influencing therapeutic response, determined persistence into adulthood, investigated pituitary morphology, and screened for mutations in causative genes. METHODS: The files of 96 GH-deficient children were reviewed...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27476159/long-term-effect-of-cranial-radiotherapy-on-pituitary-hypothalamus-area-in-childhood-acute-lymphoblastic-leukemia-survivors
#17
REVIEW
Cecilia Follin, Eva Marie Erfurth
Survival rates of childhood cancer have improved markedly, and today more than 80 % of those diagnosed with a pediatric malignancy will become 5-year survivors. Nevertheless, survivors exposed to cranial radiotherapy (CRT) are at particularly high risk for long-term morbidity, such as endocrine insufficiencies, metabolic complications, and cardiovascular morbidity. Deficiencies of one or more anterior pituitary hormones have been described following therapeutic CRT for primary brain tumors, nasopharyngeal tumors, and following prophylactic CRT for childhood acute lymphoblastic leukemia (ALL)...
September 2016: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/27472279/circulating-levels-of-irisin-in-hypopituitary-and-normal-subjects
#18
Lara Pena-Bello, Sonia Pértega-Diaz, Susana Sangiao-Alvarellos, Elena Outeiriño-Blanco, Raquel Eiras-Leal, Bárbara Varela-Rodriguez, Paula Juiz-Valiña, Miguel Pérez-Fontán, María Cordido, Fernando Cordido
CONTEXT: The recently identified myokine irisin conveys some of the benefits of exercise. Hypopituitarism with adult growth hormone deficiency (HP) is a situation characterized by decreased GH secretion and an altered body composition. OBJECTIVE: Our aim was to study the skeletal muscle hormone irisin in HP, and compare the results with a similar group of normal subjects. PARTICIPANTS AND METHODS: Seventeen HP patients and fifty-one normal subjects of similar age and sex were studied...
2016: PloS One
https://www.readbyqxmd.com/read/27382048/down-regulation-of-hippocampal-genes-regulating-dopaminergic-gabaergic-and-glutamatergic-function-following-combined-neonatal-phencyclidine-and-post-weaning-social-isolation-of-rats-as-a-neurodevelopmental-model-for-schizophrenia
#19
Philip Lr Gaskin, Maria Toledo-Rodriguez, Stephen Ph Alexander, Kevin Cf Fone
BACKGROUND: Dysfunction of dopaminergic, GABAergic, and glutamatergic function underlies many core symptoms of schizophrenia. Combined neonatal injection of the N-methyl-D-aspartate (NMDA) receptor antagonist, phencyclidine (PCP), and post-weaning social isolation of rats produces a behavioral syndrome with translational relevance to several core symptoms of schizophrenia. This study uses DNA microarray to characterize alterations in hippocampal neurotransmitter-related gene expression and examines the ability of the sodium channel blocker, lamotrigine, to reverse behavioral changes in this model...
November 2016: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27378855/isolation-rearing-reduces-neuronal-excitability-in-dentate-gyrus-granule-cells-of-adolescent-c57bl-6j-mice-role-of-gabaergic-tonic-currents-and-neurosteroids
#20
Giuseppe Talani, Francesca Biggio, Valentina Licheri, Valentina Locci, Giovanni Biggio, Enrico Sanna
Early-life exposure to stress, by impacting on a brain still under development, is considered a critical factor for the increased vulnerability to psychiatric disorders and abuse of psychotropic substances during adulthood. As previously reported, rearing C57BL/6J weanling mice in social isolation (SI) from their peers for several weeks, a model of prolonged stress, is associated with a decreased plasma and brain levels of neuroactive steroids such as 3α,5α-THP, with a parallel up-regulation of extrasynaptic GABAA receptors (GABAAR) in dentate gyrus (DG) granule cells compared to group-housed (GH) mice...
2016: Frontiers in Cellular Neuroscience
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