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hypothalamic syndrome

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https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#1
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28191524/renin-angiotensin-aldosterone-system-in-insulin-resistance-and-metabolic-syndrome
#2
Undurti N Das
Obesity and its consequent complications such as hypertension and metabolic syndrome are increasing in incidence in almost all countries. Insulin resistance is common in obesity. Renin- angiotensin system (RAS) is an important target in the treatment of hypertension and drugs that act on RAS improve insulin resistance and decrease the incidence of type 2 diabetes mellitus, explaining the close association between hypertension and type 2 diabetes mellitus. RAS influences food intake by modulating the hypothalamic expression of neuropeptide Y and orexins via AMPK dephosphorylation...
June 1, 2016: Journal of Translational Internal Medicine
https://www.readbyqxmd.com/read/28183310/animal-models-of-hyperandrogenism-and-ovarian-morphology-changes-as-features-of-polycystic-ovary-syndrome-a-systematic-review
#3
REVIEW
Larissa Paixão, Ramon B Ramos, Anita Lavarda, Debora M Morsh, Poli Mara Spritzer
Polycystic ovary syndrome (PCOS) is a common endocrine disorder, affecting 9-18% of women in reproductive age that causes hyperandrogenism and infertility due to dysfunctional follicular maturation and anovulation. The etiology of PCOS is still poorly known, and information from experimental animal models may help improve current understanding of the mechanisms of PCOS initiation and development. Therefore, we conducted a systematic review of currently available methods for simulation of PCOS in experimental models, focusing on two main endocrine traits: ovarian morphology changes and circulating levels of sex hormones and gonadotropins...
February 10, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28181780/diagnosis-treatment-clinical-course-and-prognosis-of-childhood-onset-craniopharyngioma-patients
#4
Hermann L Müller
CONTEXT: For decades gross-total resection was the preferred treatment option in childhood-onset craniopharyngioma, assuming that radical strategies at the time of initial diagnosis and treatment would result in cure. Recent reports on long-term prognosis, novel treatment approaches, and molecular genetics provide new insights into more risk-adapted treatment strategies in order to prevent sequelae such as hypothalamic syndrome. EVIDENCE ACQUISITION: A search for original articles published between 2000 and 2016 was performed in PubMed, Science Citation Index Expanded, EMBASE and Scopus...
February 9, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#5
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28158916/acute-recapitulation-of-the-hyperinsulinemia-and-hyperlipidemia-characteristic-of-metabolic-syndrome-suppresses-gonadotropins
#6
Justin Chosich, Andrew P Bradford, Amanda A Allshouse, Jane E B Reusch, Nanette Santoro, Irene E Schauer
OBJECTIVE: To determine the effect of lipid/heparin versus saline infusion, with or without concurrent euglycemic hyperinsulinemia, on serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Obesity is associated with hyperlipidemia, insulin resistance, and relative hypogonadotropic hypogonadism. It was hypothesized that acutely elevated fatty acids and insulin would impair gonadotropin secretion. METHODS: Regularly cycling women and men without obesity underwent a crossover 6-hour infusion study over four visits...
February 3, 2017: Obesity
https://www.readbyqxmd.com/read/28153671/insomnia-and-risk-of-cardiovascular-disease
#7
REVIEW
Sogol Javaheri, Susan Redline
Insomnia is the most prevalent sleep disorder in the United States and is highly comorbid with a number of cardiovascular diseases. In the last decade a number of observational studies have demonstrated an association between insomnia and incident cardiovascular disease (CVD) morbidity and mortality, including hypertension, coronary heart disease, and heart failure. Despite some inconsistencies in the literature, likely due to variation in how insomnia is defined and measured, the existing data suggest that insomnia, especially when accompanied by short sleep duration, is associated with increased risk for hypertension, coronary heart disease and recurrent acute coronary syndrome, and heart failure...
January 30, 2017: Chest
https://www.readbyqxmd.com/read/28137862/dyrk1a-regulates-hap1-dcaf7-wdr68-binding-with-implication-for-delayed-growth-in-down-syndrome
#8
Jianxing Xiang, Su Yang, Ning Xin, Marta A Gaertig, Roger H Reeves, Shihua Li, Xiao-Jiang Li
Huntingtin-associated protein 1 (Hap1) is known to be critical for postnatal hypothalamic function and growth. Hap1 forms stigmoid bodies (SBs), unique neuronal cytoplasmic inclusions of unknown function that are enriched in hypothalamic neurons. Here we developed a simple strategy to isolate the SB-enriched fraction from mouse brain. By analyzing Hap1 immunoprecipitants from this fraction, we identified a Hap1-interacting SB component, DDB1 and CUL4 associated factor 7 (Dcaf7)/WD40 repeat 68 (WDR68), whose protein level and nuclear translocation are regulated by Hap1...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28131534/the-first-sixty-five-craniopharyngioma-operations-in-france
#9
REVIEW
I Castro-Dufourny, R Carrasco, R Prieto, L Barrios, J-M Pascual
Craniopharyngiomas (CPs) are benign epithelial tumors that develop along the hypothalamus-hypophyseal axis and were first described by Jakob Erdheim in 1904. These tumors have represented a challenge for surgeons since the rise of modern neurosurgery. The study of CPs is linked to the development of this surgical discipline in parallel with neuroendocrinology within the French school of neurology, led by Joseph Babinski. For the present study, all CP cases published in the French scientific literature before the development of modern neuroradiology were gathered, and 65 cases that underwent surgical procedures between 1921 and 1973 were selected...
January 25, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28107893/influence-of-stress-systems-and-physical-activity-on-different-dimensions-of-fatigue-in-female-fibromyalgia-patients
#10
Johanna M Doerr, Susanne Fischer, Urs M Nater, Jana Strahler
OBJECTIVE: Fatigue is a defining characteristic and one of the most debilitating features of fibromyalgia syndrome (FMS). The mechanisms underlying different dimensions of fatigue in FMS remain unclear. The aim of the current study was to test whether stress-related biological processes and physical activity modulate fatigue experience. METHODS: Using an ambulatory assessment design, 26 female FMS patients reported general, mental, and physical fatigue levels at six time points per day for 14 consecutive days...
February 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28100688/the-use-of-oxytocin-to-improve-feeding-and-social-skills-in-infants-with-prader-willi-syndrome
#11
Maïthé Tauber, Kader Boulanouar, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Virginie Ehlinger, Pascale Fichaux-Bourin, Catherine Molinas, Sandy Faye, Marion Valette, Jeanne Pourrinet, Catie Cessans, Sylvie Viaux-Sauvelon, Céline Bascoul, Antoine Guedeney, Patric Delhanty, Vincent Geenen, Henri Martens, Françoise Muscatelli, David Cohen, Angèle Consoli, Pierre Payoux, Catherine Arnaud, Jean-Pierre Salles
BACKGROUND AND OBJECTIVES: Patients with Prader-Willi syndrome (PWS) display poor feeding and social skills as infants and fewer hypothalamic oxytocin (OXT)-producing neurons were documented in adults. Animal data demonstrated that early treatment with OXT restores sucking after birth. Our aim is to reproduce these data in infants with PWS. METHODS: We conducted a phase 2 escalating dose study of a short course (7 days) of intranasal OXT administration. We enrolled 18 infants with PWS under 6 months old (6 infants in each step) who received 4 IU of OXT either every other day, daily, or twice daily...
January 18, 2017: Pediatrics
https://www.readbyqxmd.com/read/28094877/hypothalamus-specific-re-introduction-of-snord116-into-otherwise-snord116-deficient-mice-increased-energy-expenditure
#12
Y Qi, L Purtell, M Fu, L Zhang, S Zolotukhin, L Campbell, H Herzog
The Snord116 gene cluster has been recognized as a critical contributor to the Prader-Willi Syndrome (PWS) with mice lacking Snord116 displaying many classical PWS phenotypes including low postnatal body weight, reduced bone mass and increased food intake. However, these mice do not develop obesity due to increased energy expenditure. To understand the physiological function of Snord116 better and potentially rescue the altered metabolism of Snord116(-/-) mice, we used an adeno-associated viral (AAV) approach to reintroduce the Snord116 gene product into the hypothalamus in Snord116(-/-) mice at different ages...
January 17, 2017: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/28094169/a-12-week-randomized-controlled-trial-of-twice-daily-intranasal-oxytocin-for-social-cognitive-deficits-in-people-with-schizophrenia
#13
L Fredrik Jarskog, Cort A Pedersen, Jacqueline L Johnson, Robert M Hamer, Shane W Rau, Tonya Elliott, David L Penn
Social cognition is impaired in people with schizophrenia and these deficits are strongly correlated with social functioning. Oxytocin is a hypothalamic peptide that contributes to maternal infant bonding and has diverse pro-social effects in adults. This study tested the hypothesis that 12weeks of intranasal oxytocin will improve social cognitive function in outpatients with schizophrenia and schizoaffective disorder. Sixty-eight eligible participants were randomized to oxytocin (24IU twice daily) or placebo...
January 13, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28086774/androgenic-effects-of-aqueous-and-methanolic-extracts-of-ficus-asperifolia-in-male-wistar-rats
#14
Pierre Watcho, Hermine Meli Watio, Modeste Wankeu-Nya, Esther Ngadjui, Patrick Deeh Defo, Pepin Alango Nkeng-Efouet, Telesphore Benoit Nguelefack, Albert Kamanyi
BACKGROUND: Androgen deficiency is a clinical syndrome resulting from the inability of the testes to produce physiological levels of testosterone due to a disturbance occurring at one or more levels of the hypothalamic-pituitary-testicular axis. The present study was undertaken to evaluate the androgenic properties of aqueous and methanolic extracts of Ficus asperifolia on normal and castrated immature rats. METHODS: Normal rats were treated either per os with aqueous or methanolic extract of Ficus asperifolia (100 mg/kg or 500 mg/kg b...
January 13, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28065687/restless-legs-syndrome-and-cardiovascular-disease-a-research-roadmap
#15
REVIEW
Daniel J Gottlieb, Virend K Somers, Naresh M Punjabi, John W Winkelman
In this paper, we first critically appraise the epidemiologic literature examining the association of restless legs syndrome (RLS) with cardiovascular disease (CVD) and then consider whether lessons learned from the study of cardiovascular consequences of other sleep disorders might inform a research agenda to examine the potential mechanisms of cardiovascular morbidity of RLS. Cross-sectional and longitudinal studies are both mixed as to whether there is a meaningful association of RLS and CVD. On the other hand, numerous cross-sectional and longitudinal observational studies have shown a strong association of obstructive sleep apnea (OSA) with CVD risk...
October 27, 2016: Sleep Medicine
https://www.readbyqxmd.com/read/28061975/the-place-of-stress-and-emotions-in-the-irritable-bowel-syndrome
#16
S Pellissier, B Bonaz
Our emotional state can have many consequences on our somatic health and well-being. Negative emotions such as anxiety play a major role in gut functioning due to the bidirectional communications between gut and brain, namely, the brain-gut axis. The irritable bowel syndrome (IBS), characterized by an unusual visceral hypersensitivity, is the most common disorder encountered by gastroenterologists. Among the main symptoms, the presence of current or recurrent abdominal pain or discomfort associated with bloating and altered bowel habits characterizes this syndrome that could strongly alter the quality of life...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28058714/a-phytotherapic-approach-to-reduce-sperm-dna-fragmentation-in-patients-with-male-infertility
#17
Marco Capece, Giuseppe Romeo, Antonio Ruffo, Leo Romis, Salvatore Mordente, Giovanni Di Lauro
INTRODUCTION: Infertility affects 50 to 80 million (between 8 and 12% of couples). Male factor is a cause of infertility in almost half of the cases, mainly due to oligoasthenoteratozoospermia. DNA fragmentation is now considered an important factor in the aetiology of male infertility. We studied the effects on semen analysis and on DNA fragmentation of in vivo admnistration of Myo-Inositol and Tribulus Terrestris plus Alga Ecklonia plus Biovis (Tradafertil; Tradapharma Sagl, Swizerland) in men with previously diagnosed male infertility...
December 28, 2016: Urologia
https://www.readbyqxmd.com/read/28053584/effect-of-cynomorium-total-flavone-on-depression-model-of-perimenopausal-rat
#18
Mingsan Miao, Xiaoli Yan, Lin Guo, Pengfei Li
PURPOSE: To observe the effect of cynomorium total flavone on the depression model of perimenopausal rat and to analyze the action characteristics of cynomorium total flavone on depression of rat with perimenopausal syndrome. METHOD: Duplicate the model of rat with perimenopausal depression based on the combined method of incomplete castration and chronic stimulation, and keep drug administration for 35d. And then measure related behavior indicators and the change of biochemical index level in serum and brains; measure the estrogen/androgen receptor (ER/AR) in related tissues and the ERmRNA expression in hypothalamus...
January 2017: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/28050466/a-rare-case-of-ovarian-hyperstimulation-syndrome-in-a-preterm-infant
#19
Asieh Mosallanejad, Shahrzad Tabatabai, Marjan Shakiba, Mohammad Reza Alaei, Hedieh Saneifard
Ovarian hyperstimulation syndrome is a rare disease among preterm infants. This syndrome was first described in 1985 in four infants with a gestational age of <30 weeks. Several explanations for this syndrome have been suggested namely the immaturity of Hypothalamic-Pituitary-Gonadal (HPG) axis, lack of negative feedback, increased sensitivity of Follicle Stimulating Hormone (FSH) receptors due to mutation and high level of estradiol. In this report, a case of hyperstimulation syndrome in a newborn with gestational age of 30 weeks is presented and the probable mechanisms in the literature are discussed...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28045396/hypothalamic-inflammation-in-obesity-and-metabolic-disease
#20
Alexander Jais, Jens C Brüning
Over the last years, hypothalamic inflammation has been linked to the development and progression of obesity and its sequelae. There is accumulating evidence that this inflammation not only impairs energy balance but also contributes to obesity-associated insulin resistance. Elevated activation of key inflammatory mediators such as JNK and IκB kinase (IKK) occurs rapidly upon consumption of a high-fat diet, even prior to significant weight gain. This activation of hypothalamic inflammatory pathways results in the uncoupling of caloric intake and energy expenditure, fostering overeating and further weight gain...
January 3, 2017: Journal of Clinical Investigation
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