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"Growth Hormone Deficiency"

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https://www.readbyqxmd.com/read/29328027/the-impact-of-12-month-growth-hormone-replacement-therapy-on-lipid-metabolism-and-adipose-tissue-distribution-in-georgian-patients-with-adult-growth-hormone-deficiency
#1
N Bostoganashvili, T Zerekidze, Sh Janjgava, M Lomidze
Growth hormone deficiency (GHD) is one of the reasons of significant metabolic morbidities inchildren and adults. The aim of our study was to evaluate the impact of growth hormone (GH) replacement therapy on lipid profile and adipose tissue distribution in adults with GHD. Twenty hypopituitary adults, aged 40.75±2.2 years (mean ± SE, range 20.5-60), with adult onset GHD (aGHD) were enrolled in a randomized, double blind, placebo-controlled study. 10 patients received recombinant growth hormone injection once weekly for 12 months, and the rest 10 patients (as control group) received placebo...
December 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#2
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29317355/identification-of-candidate-serum-biomarkers-of-childhood-onset-growth-hormone-deficiency-using-swath-ms-and-feature-selection
#3
Ignacio Ortea, Isabel Ruíz, Ramón Cañete, Javier Caballero-Villarraso, María Dolores Cañete
A typical clinical manifestation of growth hormone deficiency (GHD) is a short stature resulting from delayed growth, but GHD affects bone health, cardiovascular function and metabolic profile and therefore quality of life. Although early GH treatment during childhood has been shown to improve outcomes, no single biochemical parameter is currently available for the accurate diagnosis of GHD in children. There is hence a need for non-invasive biomarkers. In this study, the relative abundance of serum proteins from GHD children and healthy controls was measured by next-generation proteomics SWATH-MS technology...
January 6, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29285442/prevalence-and-etiological-profile-of-short-stature-among-school-children-in-a-south-indian-population
#4
Kumaravel Velayutham, S Sivan Arul Selvan, R V Jeyabalaji, S Balaji
Background and Objectives: Short stature (SS) is a common pediatric problem and it might be the first sign of underlying illness. Studies documenting the burden and etiological profile of SS are scarce from India and are mostly limited to data obtained from referral centers. Due to the lack of large-scale, community-based studies utilizing a standard protocol, the present study aimed to assess the prevalence and etiological profile of SS in school children of a South Indian district. Materials and Methods: In this cross-sectional study, children aged 4-16 years from 23 schools in Madurai district, Tamil Nadu, underwent anthropometric measurements and height was plotted in Khadilkar et al...
November 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29274847/comparison-between-euglycemic-hyperinsulinemic-clamp-and-surrogate-indices-of-insulin-sensitivity-in-children-with-growth-hormone-deficiency
#5
Alessandro Ciresi, Valentina Guarnotta, Giuseppe Pizzolanti, Carla Giordano
OBJECTIVE: Data about the impact of growth hormone treatment (GHT) on insulin sensitivity in children are quite controversial, due to the different surrogate indices that have been used. DESIGN: We evaluated insulin sensitivity through the euglycemic hyperinsulinemic clamp, considered the gold standard technique, in 23 children affected by growth hormone deficiency (GHD) at baseline and after 12months of GHT and in 12 controls with short stature at baseline, and we compared the clamp-derived index (M-value) with the most commonly used surrogate index of insulin sensitivity, as ISI Matsuda, and with circulating plasma markers of insulin sensitivity, as adiponectin and resistin levels...
December 13, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29260252/-functional-diagnostics-in-endocrinology
#6
REVIEW
C J Auernhammer, M Reincke
When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. This review article discusses selected functional tests, each of which plays an important role in current guidelines. Indications and test principles, including their performance, reliability, and limitations, are discussed...
December 19, 2017: Der Internist
https://www.readbyqxmd.com/read/29259130/cathepsin-b-regulates-hepatic-lipid-metabolism-by-cleaving-liver-fatty-acid-binding-protein
#7
Simeon Thibeaux, Shaila Siddiqi, Olga Zhelyabovska, Faisal Moinuddin, Michal M Masternak, Shadab A Siddiqi
Synthesis and secretion of hepatic triglycerides (TAG) associated with very low-density lipoprotein (VLDL) play a major role in maintaining overall lipid homeostasis. This study aims to identify factors affecting synthesis and secretion of VLDL-TAG using the growth hormone-deficient Ames dwarf mouse model, which has reduced serum TAG. Proteomic analysis coupled with a bioinformatics driven approach revealed that these mice express greater amounts of hepatic cathepsin B and lower amounts of liver fatty acid binding protein (LFABP), than their wild type littermates...
December 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29228534/a-case-with-short-stature-growth-hormone-deficiency-and-46-xx-xq27-qter-deletion
#8
Şule Yıldırım, Naci Topaloğlu, Mustafa Tekin, Fatma Sılan
We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency...
October 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29222266/impact-of-bone-disease-and-pain-in-thalassemia
#9
REVIEW
Antonio Piga
Conventional treatment of thalassemia, namely regular blood transfusion and iron chelation, improves perspectives and quality of life; however, successful treatment leads to more time in which long-term complications such as bone disease can develop. Thalassemia bone disease (TBD) is unique: all aspects, from bone anatomy and bone quality to mineral density, may be affected, with important morbidity including osteoporosis, fractures, spinal deformities, nerve compression, and pain. Clinical presentations include growth impairment, rickets-like features, back pain, spinal deformities, any sign of nerve compression, severe osteoporosis, and fragility fractures...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29221463/correction-to-recessive-vars2-mutation-underlies-a-novel-syndrome-with-epilepsy-mental-retardation-short-stature-growth-hormone-deficiency-and-hypogonadism
#10
Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F Meyer, Stefan T Arold, Dorota Monies
After publication of the article [1], it has been brought to our attention that there is a nomenclature issue with this article. At the time of acceptance, the VARS2 mutation was considered equivalent to the VARS2 mutation. However, this has changed so that VARS now only refers to shorter mitochondrial sequence of valyl-tRNA synthesase containing 1093 amino acids. "Therefore, in the context of this article, every usage of "VARS2" should be replaced with "VARS" when referring to the causative variant".
December 8, 2017: Human Genomics
https://www.readbyqxmd.com/read/29219047/the-effects-of-genetic-polymorphism-on-treatment-response-of-recombinant-human-growth-hormone
#11
Shi Chen, Hanxiao You, Hui Pan, Huijuan Zhu, Hongbo Yang, Fengying Gong, Linjie Wang, Yu Jiang, Chengsheng Yan
Recombinant human growth hormone (rhGH) has been widely used in clinical treatment of growth hormone deficiency (GHD) or non GHD since 1985 and technology have achieved a great development in different long-acting formulations. Although the mathematical models for predicting the growth hormone response could help clinicians get to an individual personalized growth dose, many patients just can't reach the target height and the growth hormone responses differed.Genetic polymorphisms may play a role in the varies of individual responses in this treatment process...
December 6, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/29217803/growth-hormone-deficiency-in-children-from-suspecting-to-diagnosing
#12
Varuna Vyas, Anil Kumar, Vandana Jain
Isolated Growth hormone deficiency is an important and treatable cause of short stature. However, it is often difficult to diagnose the condition with certainty due to the lack of a single robust diagnostic test. Short children, other than those with the classical phenotype of immature chubby facies, truncal obesity and micropenis in boys, or those with history of cranial lesions with known association with hypopituitarism, should be evaluated for growth hormone deficiency only after excluding the other more common conditions...
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29213168/pituitary-imaging-in-129-children-with-growth-hormone-deficiency-a-spectrum-of-findings
#13
Rushaid N A AlJurayyan, Nasir A M AlJurayyan, Hala G Omer, Sharifah D A Alissa, Hessah M N AlOtaibi, Reem A H AlKhalifah, Amir M I Babiker, Sarar Mohamed
Growth Hormone (GH) deficiency is the most common pituitary hormone deficiency in children. Magnetic Resonance Imaging (MRI) of the brain detects structural pituitary anomalies associated with GH deficiency. This retrospective hospital-based study was conducted at King Khalid University hospital (KKUH), Riyadh, Saudi Arabia, during the period (January 1995-June 2016). The available radiological, clinical and laboratory records of all children with confirmed GH deficiency by dynamic testing who had MRI brain were reviewed...
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29213091/nitric-oxide-mediates-apoptosis-and-mitochondrial-dysfunction-and-plays-a-role-in-growth-hormone-deficiency-by-nivalenol-in-gh3-cells
#14
Deyu Huang, Luqing Cui, Pu Guo, Xijuan Xue, Qinghua Wu, Hafiz Iftikhar Hussain, Xu Wang, Zonghui Yuan
Nivalenol (NIV), a type B trichothecenes commonly found in cereal crops, can cause growth impairment in animals. However, limited information about its mechanisms is available. Trichothecenes have been characterized as an inhibitor of protein synthesis and induce apoptosis in cells. Oxidative stress is considered an underlying mechanism. However, whether NIV can induce oxidative stress and apoptosis in rat pituitary cells line GH3 is unclear. The present study showed that NIV significantly reduced the viability of cells and caused oxidative stress in GH3 cells...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29206809/effect-of-recombinant-human-growth-hormone-therapy-on-blood-lipid-and-carotid-intima-media-thickness-in-children-with-growth-hormone-deficiency
#15
Ming Chen, Dongmei Gan, Yili Luo, Sharvan Rampersad, Lu Xu, Shaoling Yang, Nan Li, Hong Li
BACKGROUND: Reports on the association between growth hormone deficiency (GHD) and cardiovascular risk factors in children are limited. We aim to investigate the effect of different doses of rhGH therapy on blood lipid and cIMT in Chinese GHD children. METHODS: Ninety children including 60 isolated GHD children and 30 healthy children were enrolled. GHD children were randomly divided into 2 groups (A and B) according to rhGH dose given: Group A received 0.23 mg/kg/week and group B 0...
December 5, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29198444/endocrine-and-metabolic-assessment-in-adults-with-langerhans-cell-histiocytosis
#16
L Montefusco, S Harari, D Elia, A Rossi, C Specchia, O Torre, G Adda, M Arosio
CONTEXT: Diabetes insipidus (DI) is one of most common complications of Langerhans cell histiocytosis (LCH) but prevalence of anterior pituitary deficiencies and metabolic alterations have not been clearly defined yet. OBJECTIVES: Evaluate prevalence of endocrine and metabolic manifestations in a cohort of patients affected by Pulmonary LCH. METHODS: Observational cross-sectional study on 18 adults (7 M/11 F, 42±12years) studied for complete basal and dynamic endocrine lab tests and glucose metabolism...
November 29, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/29184809/review-of-prader-willi-syndrome-the-endocrine-approach
#17
REVIEW
Ryan Heksch, Manmohan Kamboj, Kathryn Anglin, Kathryn Obrynba
Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM)...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29175558/a-complex-phenotype-in-a-family-with-a-pathogenic-sox3-missense-variant
#18
Anne M Jelsig, Birgitte R Diness, S Sven Kreiborg, Katharina Main, Vibeke A Larsen, Hanne Hove
Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#19
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29152430/a-dosimetric-comparison-of-intensity-modulated-proton-therapy-volumetric-modulated-arc-therapy-and-4%C3%AF-non-coplanar-intensity-modulated-radiation-therapy-for-a-patient-with-parameningeal-rhabdomyosarcoma
#20
Tiffany W Chen, Julian Sison, Becky Lee, Arthur J Olch, Andrew Chang, Annelise Giebeler, Kenneth Wong
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and manifests as two major histological subtypes: embryonal and alveolar. The five-year local failure rate for RMS at parameningeal sites (middle ear, mastoid region, nasal cavity, etc.) is around 17% despite multiple Intergroup Rhabdomyosarcoma Study Group (IRS) trials conducted to determine the optimal radiation treatment regimen. This case report explores the use of intensity-modulated proton therapy (IMPT) for a 10-year-old child who presented with left eye irritation, facial pain, and headaches and was found to have an alveolar parameningeal rhabdomyosarcoma...
September 10, 2017: Curēus
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