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Growth hormone syndrome

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https://www.readbyqxmd.com/read/29769040/novel-aggrecan-variant-p-gln2364pro-causes-severe-familial-nonsyndromic-adult-short-stature-and-poor-growth-hormone-response-in-chinese-children
#1
Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni, Feihong Luo
BACKGROUND: Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unknown ACAN gene variant reduces adult height and we analyze the GH response in children from an affected large Chinese family. METHODS: Two children initially diagnosed with idiopathic short stature (ISS) and a third mildly short child from a large Chinese family presented with poor GH response...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29765966/further-clinical-evidence-for-the-effect-of-igf-1-on-hair-growth-and-alopecia
#2
Ralph M Trüeb
Observations on the Laron syndrome originally offered the opportunity to explore the effect of insulin-like growth factor 1 (IGF-1) deficiency on human hair growth and differentiation. According to its expression in the dermal hair papilla, IGF-1 is likely involved in reciprocal signaling. It has been shown to affect follicular proliferation, tissue remodeling, and the hair growth cycle, as well as follicular differentiation, identifying IGF-1 signaling as an important mitogenic and morphogenetic regulator in hair follicle biology...
April 2018: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29756419/growth-hormone-and-aging-updated-review
#3
REVIEW
Andrzej Bartke
Role of growth hormone (GH) in mammalian aging is actively explored in clinical, epidemiological, and experimental studies. The age-related decline in GH levels is variously interpreted as a symptom of neuroendocrine aging, as one of causes of altered body composition and other unwelcome symptoms of aging, or as a mechanism of natural protection from cancer and other chronic diseases. Absence of GH signals due to mutations affecting anterior pituitary development, GH secretion, or GH receptors produces an impressive extension of longevity in laboratory mice...
May 11, 2018: World Journal of Men's Health
https://www.readbyqxmd.com/read/29750649/cardiac-examination-in-children-with-laron-syndrome-undergoing-mecasermin-therapy
#4
Nurdan Erol, Metin Yıldız, Ayla Güven, Ayse Yıldırım
BACKGROUND: Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS. This study aims to research cardiac findings of children with LS, who receive treatment with mecasermin...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29748515/growth-hormone-receptor-mutations-related-to-individual-dwarfism
#5
REVIEW
Shudai Lin, Congjun Li, Charles Li, Xiquan Zhang
Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH⁻GHR⁻IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH⁻GHR⁻IGF-1 signal transaction process in the dwarf phenotype...
May 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29745981/evaluation-of-biochemical-endocrine-and-metabolic-biomarkers-for-the-early-diagnosis-of-polycystic-ovary-syndrome-among-non-obese-saudi-women
#6
Maha H Daghestani
OBJECTIVE: To investigate the potential of selected biochemical, endocrine, and metabolic biomarkers for early diagnosis of polycystic ovary syndrome (PCOS) among non-obese women. METHODS: A prospective observational cross-sectional study was conducted at three medical centers in Makkah, Saudi Arabia, between July 15 and September 20, 2017. Eligible participants were non-obese women diagnosed with PCOS according to the Rotterdam criteria (n=44) and non-obese normo-ovulatory women without signs of PCOS (control group; n=44)...
May 10, 2018: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29743141/chemotherapy-patient-with-stevens-johnson-syndrome-presents-to-the-emergency-department-a-case-report
#7
Stephanie Widmer, Michele Grossman
BACKGROUND: Stevens-Johnson syndrome (SJS) is part of a continuum of severe mucocutaneous reactions, commonly thought to be triggered by certain medications. The syndrome itself is characterized by diffuse necrosis and detachment of the epidermis. CASE REPORT: This case report discusses a patient who presented to the Emergency Department with signs and symptoms of Stevens-Johnson syndrome four days after chemotherapy administration of ribociclib (Kisqali®). Ribociclib is a newly approved, cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor indicated for the treatment of hormone receptor positive, human epidermal growth factor receptor 2 negative (HR+/HER2-) metastatic breast cancer...
April 11, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29741675/the-intestinotrophic-effects-of-glucagon-like-peptide-2-glp-2-in-relation-to-intestinal-neoplasia
#8
Adile Orhan, Ismail Gögenur, Hannelouise Kissow
Context: Glucagon-like peptide-2 (GLP-2) is a gastrointestinal hormone with intestinotrophic and anti-apoptotic effects. The hormone's therapeutic potential in intestinal diseases and relation to intestinal neoplasia have raised great interest among researchers. This paper reviews and discusses published experimental and clinical studies concerning the growth-stimulating and anti-apoptotic effects of GLP-2 in relation to intestinal neoplasia. Evidence acquisition: The data used in this narrative review were collected through literature research in PubMed using English keywords...
May 7, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29740400/the-role-of-kcnq1-mutations-and-maternal-beta-blocker-use-during-pregnancy-in-the-growth-of-children-with-long-qt-syndrome
#9
Heta Huttunen, Matti Hero, Mitja Lääperi, Johanna Känsäkoski, Heikki Swan, Joel A Hirsch, Päivi J Miettinen, Taneli Raivio
Objective: Two missense mutations in KCNQ1 , an imprinted gene that encodes the alpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal dominant growth hormone deficiency and maternally inherited gingival fibromatosis. We evaluated endocrine features, birth size, and subsequent somatic growth of patients with long QT syndrome 1 (LQT1) due to loss-of-function mutations in KCNQ1 . Design: Medical records of 104 patients with LQT1 in a single tertiary care center between 1995 and 2015 were retrospectively reviewed...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#10
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29739096/measurement-differences-between-two-immunoassay-systems-for-lh-and-fsh-a-comparison-of-roche-cobas-e601-vs-abbott-architect-i2000sr
#11
Lianli Yin, Yinghua Tang, Xiang Chen, Yifan Sun
BACKGROUND: Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) regulate the growth and reproductive activity of gonadal tissue and determine the concentration of LH is essential for the prediction of ovulation. Collectively, FSH and LH are important measurements to ascertain the causes of infertility as well as diagnosing disorders such as polycystic ovary syndrome and pituitary and gonadal dysfunction. This study compares the correlation between LH and FSH measurements during examination with two different systems, Architect i2000sr (Abbott Laboratories; Lake Bluff, IL, USA) and Cobas e601 (Roche; Geneva, Switzerland), and assesses the differences between these systems...
March 1, 2018: Clinical Laboratory
https://www.readbyqxmd.com/read/29737268/evaluation-and-management-of-the-child-with-hypothyroidism
#12
Alexander A C Leung, Alexander K C Leung
BACKGROUND: Thyroid hormones are critical for early neurocognitive development as well as growth and development throughout childhood. Prompt recognition and treatment of hypothyroidism is therefore of utmost importance to optimize physical and neurodevelopmental outcomes. OBJECTIVE: To review in depth the evaluation, diagnosis, and treatment of hypothyroidism in children. METHODS: A PubMed search was completed in Clinical Queries using the key term "hypothyroidism"...
May 8, 2018: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
https://www.readbyqxmd.com/read/29725365/effects-of-recombinant-human-growth-hormone-on-protein-malnutrition-and-igf-1-and-il-2-gene-expression-levels-in-chronic-nephrotic-syndrome
#13
Guang Dai, Donghai Wang, Hua Dong
The aim of the study was to investigate the effects of recombinant human growth hormone on protein malnutrition and insulin-like growth factor-1 ( IGF-1 ) and interleukin-2 ( IL-2 ) gene expressions in chronic nephrotic syndrome. Eighty patients with chronic nephrotic syndrome were admitted to our hospital. The patients were included in the study period from January 2015 to December 2016 and were divided into two groups (40 cases in each group) according to the random number method. All the patients enrolled received symptomatic and supportive treatment...
May 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29724126/serial-analysis-of-multiple-serum-cytokine-responses-to-adrenocorticotropic-hormone-therapy-in-patients-with-west-syndrome
#14
Gaku Yamanaka, Natsumi Morishita, Shinichiro Morichi, Mika Takeshita, Urabe Tomomi, Yu Ishida, Takamatsu Tomoko, Shingo Oana, Yusuke Watanabe, Soken Go, Yasuyo Kashiwagi, Hisashi Kawashima
Adrenocorticotropic hormone (ACTH) therapy is effective for West syndrome; however, the underlying mechanism of action remains unknown. This study explored this mechanism in 5 Japanese patients with West syndrome, injected with ACTH for 28 days. Serum samples were obtained before and 30, 120, and 720 minutes after ACTH injection divided into an "early" (1-4 days) and a "late" (10-28 days) group. Responses to ACTH over time were analyzed by measuring the levels of 27 cytokines. In the early group, serum levels of interleukins-5, -9, and -17, basic fibroblast growth factor, interferon (IFN-γ), IFN-γ-inducible protein 10, chemokine ligand (CCL) 3 and 4, and platelet-derived growth factor were higher in all patients before ACTH administration than in the 720-minute time point...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29720538/sympathetic-innervation-regulates-macrophage-activity-in-rat-with-polycystic-ovary
#15
Florencia Figueroa, Gisela Mendoza, Dario Cardozo, Fabian Mohamed, Liliana Oliveros, Myriam Liliana Forneris
Polycystic ovary syndrome (PCOS) is a low grade inflammatory disease characterized by hyperandrogenism and ovarian hyperinnervation. The aim of this work is to investigate whether in vivo bilateral superior ovarian nerve (SON) section in adult rats with estradiol valerate induced polycystic ovarian syndrome (PCO rats) affects macrophage spleen cells (MФ) and modifies the steroidogenic ability of their secretions. Culture media of MФ from PCO rats and PCO rats with SON section (PCO-SON rats) were used to stimulate in vitro intact ovaries...
May 2, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29703730/screening-for-germline-kcnq1-and-kcne2-mutations-in-a-set-of-somatotropinoma-patients
#16
Anna-Pauliina Iivonen, Johanna Känsäkoski, Atte Karppinen, Leena Kivipelto, Camilla Schalin-Jäntti, Auli Karhu, Taneli Raivio
OBJECTIVE: Recently, mutations in KCNQ1 , a potassium channel gene usually linked to long QT syndrome, were reported to cause maternally inherited gingival fibromatosis and growth hormone deficiency (GHD). Expression of the mutated KCNQ1 with the auxiliary potassium channel subunit KCNE2 was shown to reduce pituitary hormone secretion in functional experiments. Here, we investigated if germline mutations in KCNQ1 and KCNE2 were present in patients with somatotropinomas, which represent a model of growth hormone excess...
May 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29699389/a-synopsis-on-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#17
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Results: Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
April 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29691907/investigation-of-maxillofacial-morphology-and-oral-characteristics-with-turner-syndrome-and-early-mixed-dentition
#18
Nozomi Ahiko, Yoshiyuki Baba, Michiko Tsuji, Reiko Horikawa, Keiji Moriyama
Turner syndrome (TS) is associated with an X chromosome abnormality in women and is characterized by infantilism, congenital webbed neck, and cubitus valgus. The aim of this study was to determine the maxillofacial morphology and oral characteristics of Japanese girls (mean age, 8.5 years) with TS and early mixed dentition. Lateral cephalograms obtained at the first visit were used to analyze maxillofacial morphology. Oral characteristics were identified using orthopantomograms, intraoral photographs, and study casts...
April 25, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29691711/biomechanics-and-mechanical-signaling-in-the-ovary-a-systematic-review
#19
REVIEW
Jaimin S Shah, Reem Sabouni, Kamaria C Cayton Vaught, Carter M Owen, David F Albertini, James H Segars
PURPOSE: Mammalian oogenesis and folliculogenesis share a dynamic connection that is critical for gamete development. For maintenance of quiescence or follicular activation, follicles must respond to soluble signals (growth factors and hormones) and physical stresses, including mechanical forces and osmotic shifts. Likewise, mechanical processes are involved in cortical tension and cell polarity in oocytes. Our objective was to examine the contribution and influence of biomechanical signaling in female mammalian gametogenesis...
April 24, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29678421/growth-hormone-receptor-deficient-pigs-resemble-the-pathophysiology-of-human-laron-syndrome-and-reveal-altered-activation-of-signaling-cascades-in-the-liver
#20
Arne Hinrichs, Barbara Kessler, Mayuko Kurome, Andreas Blutke, Elisabeth Kemter, Maren Bernau, Armin M Scholz, Birgit Rathkolb, Simone Renner, Sebastian Bultmann, Heinrich Leonhardt, Martin Hrabĕ de Angelis, Hiroshi Nagashima, Andreas Hoeflich, Werner F Blum, Martin Bidlingmaier, Rüdiger Wanke, Maik Dahlhoff, Eckhard Wolf
OBJECTIVE: Laron syndrome (LS) is a rare, autosomal recessive disorder in humans caused by loss-of-function mutations of the growth hormone receptor (GHR) gene. To establish a large animal model for LS, pigs with GHR knockout (KO) mutations were generated and characterized. METHODS: CRISPR/Cas9 technology was applied to mutate exon 3 of the GHR gene in porcine zygotes. Two heterozygous founder sows with a 1-bp or 7-bp insertion in GHR exon 3 were obtained, and their heterozygous F1 offspring were intercrossed to produce GHR-KO, heterozygous GHR mutant, and wild-type pigs...
March 15, 2018: Molecular Metabolism
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