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Growth hormone syndrome

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https://www.readbyqxmd.com/read/28808787/malignant-transformation-of-a-conservatively-managed-incidental-childhood-cerebral-mass-lesion-controversy-regarding-management-paradigm
#1
Jehuda Soleman, Jonathan Roth, Zvi Ram, Michal Yalon, Shlomi Constantini
BACKGROUND: Incidental findings on neuroimaging in the pediatric population are an emerging treatment challenge. Treatment options for these incidental childhood brain mass lesions, which radiologically may be assumed to be low-grade gliomas (LGG), vary, ranging from careful conservative "wait and scan" treatment to surgical biopsy, gross total resection, and upfront radiation and/or chemotherapy. As malignant transformation of LGG in children is extremely rare, some series advocate careful conservative management of these lesions; however, universal treatment protocols are not totally agreed upon...
August 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28806298/effect-of-cyproheptadine-on-weight-and-growth-velocity-in-children-with-silver-russell-syndrome
#2
Anaïs Lemoine, Madeleine D Harbison, Jennifer Salem, Patrick Tounian, Irène Netchine, Béatrice Dubern
OBJECTIVES: Nutritional management of children with Silver-Russell syndrome (SRS) is crucial, especially before initiating growth hormone therapy (GHT). Since cyproheptadine (CYP) has been reported to be orexigenic, we retrospectively investigated the effects of CYP on changes in weight and height in SRS patients. METHODS: Anthropometric parameters (weight [W], length or height [H], relative body weight for height [W/H] and body mass index [BMI]) were recorded for 34 children with SRS receiving CYP...
August 11, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28797006/amiloride-is-effective-in-the-management-of-abiraterone-induced-mineralocorticoid-excess-syndrome-without-interfering-with-its-antineoplastic-activity
#3
Francesca Bedussi, Diego Galli, Martina Fragni, Francesca Valcamonico, Elisa Rossini, Alberto Dalla Volta, Sara Vezzoli, Elisa Roca, Vittorio Ferrari, Barbara Lazzari, Maurizio Memo, Sandra Sigala, Alfredo Berruti
BACKGROUND: The administration of abiraterone acetate (abiraterone) leads to an adrenocorticotropic hormone (ACTH)-driven increase in mineralocorticoid hormones, requiring glucocorticoid supplementation that may stimulate the growth of prostate cancer (PCa). Amiloride is a drug that selectively reduces the aldosterone-sensitive Na+/K+ exchange and could be effective in the management of mineralocorticoid excess syndrome (MCES). METHODS: The efficacy of amiloride + hydrochlorothiazide (HCT) in the clinical management of abiraterone-induced MCES was assessed in 5 consecutive patients with castration-resistant PCa (CRPC)...
August 11, 2017: Pharmacology
https://www.readbyqxmd.com/read/28793284/growth-hormone-therapy-in-children-with-kabuki-syndrome-1-year-treatment-results
#4
Dina A Schott, Willem J M Gerver, Constance T R M Stumpel
BACKGROUND/AIMS: Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children. METHODS: In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 ± 2.1 years) were treated with recombinant human GH (rhGH) for 1 year...
August 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28791847/serum-leptin-levels-and-ghr-d3-fl-gene-polymorphism-in-acromegalic-patients-with-thyroid-nodules
#5
Senay Topsakal, Fulya Akin, Sabahat Turgut, Emrah Yerlikaya, Guzin F Yaylali
BACKGROUND: Acromegaly is a rare and serious syndrome that is commonly associated with pituitary neoplasms. Thyroid multinodular disease is a common finding in acromegaly. Leptin is a polypeptide hormone, and studies have shown that it can increase cell proliferation and inhibit apoptosis. OBJECTIVES: The aim of the study was to determine the relationship of serum leptin levels with certain blood parameters and determine if growth hormone receptor (GHR)-d3/fl gene polymorphism is associated with thyroid nodules in acromegalic patients...
March 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28780516/diagnosis-of-endocrine-disease-primary-empty-sella-a-comprehensive-review
#6
Sabrina Chiloiro, Antonella Giampietro, Antonio Bianchi, Tommaso Tartaglione, Antonio Capobianco, Carmelo Anile, Laura De Marinis
Primary empty sella (PES) is characterized by the herniation of the subarachnoid space within the sella, which is often associated with variable degree of flattening of the pituitary gland in patients without previous pituitary pathologies. PES pathogenetic mechanism are not well known but seem due to a sellar diaphragm incompetence, associated to the occurrence of upper sellar or pituitary factors, as intracranial hypertension and change of pituitary volume. As PES represents in majority of cases a neuroradiological findings, without any clinical implication, the occurrence of endocrine, neurological and opthalmological symptoms, due to the above describes anatomical alteration, delineates the so called PES syndrome...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28764248/wunderlich-syndrome-due-to-ruptured-pseudoaneurysm-of-angiomyolipoma-in-first-trimester-a-rare-case-report
#7
Sunil Raghunath Patil, Prakash Wamanrao Pawar, Ajit Somaji Sawant, Abhishek Jaysukhbhai Savalia, Ashwin Sunil Tamhankar
Angiomyolipoma (AML) is a rare benign tumour of kidney which demonstrates rapid growth during pregnancy due to hormonal stimulation, leading to rupture. Majority of reported ruptured AMLs are in third trimester. We report a case of ruptured angiomyolipoma at 10th week of gestation, the earliest rupture known in singleton pregnancy. The AML had pseudo-aneurysm formation with extra-tumoural rupture during pregnancy, a finding never reported in literature yet. The patient had active bleeding with expanding peri-nephric haematoma during initial two days of conservative management...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28747540/historical-aspects-chronicling-the-discovery-of-ifnt
#8
Fuller Warren Bazer, William W Thatcher
It has been 42 years since a protein, now known as interferon tau (IFNT), was discovered in ovine conceptus-conditioned culture medium. In 1975, purification and testing of native IFNT revealed its unique antiluteolyic activity to prevent regression of corpora lutea on ovaries of nonpregnant ewes. Antiviral, antiproliferative and immunomodulatory properties of native and recombinant IFNT were also demonstrated. In addition, progesterone and IFNT were found to act cooperatively to silence expression of classical interferon stimulated genes in a cell-specific manner in ovine uterine luminal and superficial glandular epithelia...
July 26, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28746941/occurrence-of-cranial-neoplasms-in-pediatric-patients-with-noonan-syndrome-receiving-growth-hormone-is-screening-with-brain-mri-prior-to-initiation-of-growth-hormone-indicated
#9
Kanthi Bangalore Krishna, Pedro Pagan, Oscar Escobar, Jadranka Popovic
Noonan syndrome (NS) is associated with short stature. Growth hormone treatment has been FDA approved for use in these patients. Children with NS are at a higher risk of developing benign and malignant proliferative disorders, primary brain tumors being one of them. Since growth hormone therapy can worsen the tumor burden, screening with a brain MRI prior to growth hormone initiation in NS patients is strongly recommended. Here we present two NS patients who developed different primary brain tumors while being on growth hormone therapy...
July 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28743298/r-spondin2-a-novel-target-of-nobox-identification-of-variants-in-a-cohort-of-women-with-primary-ovarian-insufficiency
#10
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Brigitte Delemer, Jacques Young, Nadine Binart
BACKGROUND: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI. METHODS: We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor...
July 25, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#11
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28733467/acromegaly-at-diagnosis-in-3173-patients-from-the-li%C3%A3-ge-acromegaly-survey-las-database
#12
Patrick Petrossians, Adrian F Daly, Emil Natchev, Luigi Maione, Karin Blijdorp, Mouna Sahnoun Fathallah, Renata Auriemma, Alpha M Diallo, Anna-Lena Hulting, Diego Ferone, Vaclav Hana, Silvia Filipponi, Caroline Sievers, Claudia Nogueira, Carmen Fajardo Montañana, Davide M C Carvalho, Vaclav Hana, Günter K Stalla, Marie-Lise Jaffrain-Réa, Brigitte Delemer, Annamaria A L Colao, Thierry Brue, Sebastian J C M M Neggers, Sabina Zacharieva, Philippe Chanson, Albert Beckers
Acromegaly is a rare disorder caused by chronic growth hormone (GH) hypersecretion. While diagnostic and therapeutic methods have advanced, little information exists on trends in acromegaly characteristics over time. The Liège Acromegaly Survey (LAS) database, a relational database, is designed to assess the profile of acromegaly patients at diagnosis and during long-term follow-up at multiple treatment centers. The study population consisted of 3173 acromegaly patients from ten countries; 54.5% were female...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28726982/effects-of-ractopamine-hydrochloride-on-growth-performance-carcass-characteristics-and-physiological-response-to-different-handling-techniques
#13
J A Hagenmaier, C D Reinhardt, M J Ritter, M S Calvo-Lorenzo, G J Vogel, C A Guthrie, M G Siemens, K F Lechtenberg, D J Rezac, D U Thomson
Feedlot cattle ( = 128; BW = 549 ± 60 kg) were used to evaluate the effects of ractopamine hydrochloride (RAC) on growth performance, physiological response to handling, and mobility during shipment for slaughter in a study utilizing a split-plot design with a 2 × 2 factorial arrangement of treatments: 1) diet (CON [no β-adrenergic agonist] vs. RAC [400 mg·animal·d ractopamine hydrochloride for 28 d]) and 2) handling intensity (HI; low-stress handling [LSH; cattle moved at a walking pace with no electric prod use] vs...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#14
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28719612/renal-osteodystrophy-in-the-obesity-era-is-metabolic-syndrome-relevant
#15
Janaina Da Silva Martins, João Henrique Castro, Nestor A Sainz Rueda, Luciene Machado Dos Reis, Vanda Jorgetti, Rosa Maria Affonso Moysés, Jacqueline Teixeira Caramori
BACKGROUND: Observational studies have shown a beneficial effect of obesity on bone health; however, most of those studies were not based on bone biopsies. Metabolic syndrome (MetS) could have an effect on bone remodeling. However, there are no data on the effects of MetS in the presence of renal osteodystrophy. OBJECTIVE: The aim of this study was to investigate associations between MetS and renal osteodystrophy using the bone histomorphometric turnover-mineralization-volume (TMV) classification...
2017: PloS One
https://www.readbyqxmd.com/read/28715798/bone-mineral-density-in-women-living-with-complete-androgen-insensitivity-syndrome-and-intact-testes-or-removed-gonads
#16
Silvano Bertelloni, Maria C Meriggiola, Elenora Dati, Antonio Balsamo, Giampiero I Baroncelli
Complete androgen insensitivity syndrome (CAIS) is due to complete androgen resistance in androgen-dependent tissues. Since androgens are involved in growth, development, and mass maintenance of the skeleton, bone health may be a relevant clinical issue for improving quality of life of women living with CAIS. Bone mineral density (BMD) in women with CAIS and intact gonads has been reported in a normal range, although exceptions are known showing a low BMD mainly at the lumbar level. In women with CAIS and removed gonads, BMD is usually reduced at both the lumbar spine and femoral neck...
July 18, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28706617/rare-presentation-of-neurofibromatosis-and-turner-syndrome-in-a-pediatric-patient
#17
Natalie Gengel, Ian Marshall
Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705940/characterisation-of-eppin-function-expression-and-activity-in-the-lung
#18
Aaron Scott, Arlene Glasgow, Donna Small, Simon Carlile, Maelíosa McCrudden, Denise McLean, Ryan Brown, Declan Doherty, Fionnuala T Lundy, Umar I Hamid, Cecilia M O'Kane, Daniel F McAuley, Malcolm Brodlie, Michael Tunney, J Stuart Elborn, Chris R Irwin, David J Timson, Clifford C Taggart, Sinéad Weldon
Eppin is a serine protease inhibitor expressed in male reproductive tissues.The aim of this study was to investigate the localisation and regulation of eppin expression in myeloid and epithelial cell lines, and explore its potential role as a multifunctional host defence protein.Using immunohistochemistry and Western blotting, eppin was detected in the lungs of patients with acute respiratory distress syndrome and cystic fibrosis lung disease. Expression of eppin in monocytic cells was unaffected by stimulation with Toll-like receptor agonists, cytokines and hormone receptor agonists...
July 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#19
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28702857/protein-kinase-c-and-cardiac-dysfunction-a-review
#20
REVIEW
Raphael M Singh, Emanuel Cummings, Constantinos Pantos, Jaipaul Singh
Heart failure (HF) is a physiological state in which cardiac output is insufficient to meet the needs of the body. It is a clinical syndrome characterized by impaired ability of the left ventricle to either fill or eject blood efficiently. HF is a disease of multiple aetiologies leading to progressive cardiac dysfunction and it is the leading cause of deaths in both developed and developing countries. HF is responsible for about 73,000 deaths in the UK each year. In the USA, HF affects 5.8 million people and 550,000 new cases are diagnosed annually...
July 12, 2017: Heart Failure Reviews
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