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https://www.readbyqxmd.com/read/29148047/plasma-copeptin-levels-in-patients-with-restless-legs-syndrome
#1
S Topaloglu Tuac, S Ozben, M Koseoglu Bitnel, A Koksal, E Kucuksayan, A Hanikoğlu, T Ozben
OBJECTIVES: Copeptin, the C-terminal fragment of antidiuretic hormone, is a new biomarker that has been found to be elevated in several disorders and could be related with prognosis. This study aimed to compare plasma copeptin levels in patients with restless legs syndrome (RLS) with healthy individuals and to investigate whether plasma copeptin levels were associated with the severity of disease. MATERIAL AND METHODS: 41 patients with primary RLS, who were followed in Bakirkoy Psychiatry and Neurology Research and Training Hospital and 41 age- and sex-matched healthy individuals were included into the study...
November 17, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29136166/diabetes-induced-hyperglycemia-impairs-male-reproductive-function-a-systematic-review
#2
Constanze C Maresch, Dina C Stute, Marco G Alves, Pedro F Oliveira, David M de Kretser, Thomas Linn
BACKGROUND: Hyperglycemia can result from a loss of pancreatic beta-cells or a decline in their function leading to decreased insulin secretion or may arise from insulin resistance and variable degrees of inadequate insulin secretion resulting in diabetes and related comorbidities. To date several reviews have addressed the issue of diabetes-related male infertility but most have focused on how metabolic syndrome causes the decline in male fertility. However, a comprehensive overview as to how diabetes-induced hyperglycemia impairs male fertility is missing...
November 10, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/29125115/roles-of-hypothalamic-pituitary-adrenal-axis-and-hypothalamus-pituitary-ovary-axis-in-the-abnormal-endocrine-functions-in-patients-with-polycystic-ovary-syndrome
#3
Fan Wang, Zheng-Hong Zhang, Kai-Zhuan Xiao, Zheng-Chao Wang
Polycystic ovary syndrome(PCOS) is a common reproductive endocrine disease in women of childbearing age. While it can be affected by a variety of factors,its pathophysiology remains unclear. Its clinical features mainly include anovulation,hyperandrogenism,and hyperinsulinemia,which are closely related with abnormal neuroendocrine system. Hypothalamic-pituitary-gonadal axis(HPG) plays a crucial regulatory role in various life activities in mammals. In particular,hypothalamic-pituitary-adrenal(HPA) axis and hypothalamus-pituitary-ovary(HPO) axis can be abnormal in PCOS patients...
October 30, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29118985/acute-development-of-cushing-syndrome-in-an-hiv-infected-child-on-atazanavir-ritonavir-based-antiretroviral-therapy
#4
Gueorgui Dubrocq, Andrea Estrada, Shannon Kelly, Natella Rakhmanina
An 11-year-old male with perinatally acquired human immune deficiency virus (HIV) infection on antiretroviral regimen, which included abacavir plus lamivudine (Epzicom), didanosine, ritonavir and atazanavir presented with bilateral axillary striae, increased appetite, fatigue, facial swelling and acute weight gain. Two months prior to presentation, the patient had received a diagnostic and therapeutic intra-articular triamcinolone injection in the knee for pain relief and subsequently became progressively swollen in the face, developed striae bilaterally at the axillae, experienced increased appetite, fatigue and an 8 pound weight gain...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29118304/pediatric-optic-pathway-hypothalamic-glioma
#5
Yasuo Aihara, Kentaro Chiba, Seiichiro Eguchi, Kosaku Amano, Takakazu Kawamata
Optic pathway/hypothalamic gliomas (OP/HGs) are rare astrocytic tumors that appear more commonly among young children and often are unresectable. They comprise approximately 2% of all central nervous system tumors and account for 3-5% of pediatric intracranial tumors. Initial manifestations are often visual disturbances, endocrinopathies and hypothalamic dysfunction such as the diencephalic syndrome, and sometimes hydrocephalus due to cerebrospinal fluid (CSF) outflow obstruction. In many cases, the tumors are diagnosed late in the clinical course because they silently enlarge...
November 9, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#6
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29106787/familial-pallister-hall-in-adulthood
#7
(no author information available yet)
Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. A 59 year old man developed seizures 4 years prior to our evaluation of him, at which time imaging showed a hypothalamic hamartoma. The seizures were controlled medically...
October 6, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29099999/high-fat-simple-carbohydrate-diet-intake-induces-hypothalamic-pituitary-thyroid-axis-dysregulation-in-c57bl-6j-male-mice
#8
Swarnalatha Banavara Nagaraj, Neena Roy, Mahesh Manjunath Gouda, Rajeish Moger, Asha Abraham
Given the association between subclinical hypothyroidism and metabolic syndrome (MetS), we wanted to explore if high fat simple carbohydrate (HFSC) diet affect hypothalamus-pituitary-thyroid axis. One month old male C57BL/6J mice were fed with Control (C) and HFSC (T) feed (n=18 each) respectively for 5 months. T3 showed a significant increase in T(13.5%) compared to age matched C by 5th month.TSH was significantly high (1mo:1.9fold; 3mo:2.66 fold; 5mo:3.5fold) from 1stmonth to 5thmonth in T compared to age matched C...
November 3, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/29097701/two-missense-mutations-in-kcnq1-cause-pituitary-hormone-deficiency-and-maternally-inherited-gingival-fibromatosis
#9
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29095983/progesterone-suppression-of-lh-pulse-frequency-in-adolescent-girls-with-hyperandrogenism-effects-of-metformin
#10
Jessica A Lundgren, Su Hee Kim, Christine M Burt Solorzano, Christopher R McCartney, John C Marshall
Context: Polycystic ovary syndrome (PCOS) and adolescent hyperandrogenism (HA) are characterized by rapid LH (GnRH) pulse frequency. This partly reflects impaired GnRH pulse generator (hypothalamic) sensitivity to progesterone (P4) negative feedback. We aimed to assess whether metformin may improve P4 sensitivity in adolescent HA, for which it is prescribed widely. Objective: To test the hypothesis that metformin improves hypothalamic P4 sensitivity in adolescent HA...
October 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29077038/effects-of-late-gestational-fetal-exposure-to-dexamethasone-administration-on-the-postnatal-hypothalamus-pituitary-adrenal-axis-response-to-hypoglycemia-in-pigs
#11
René Schiffner, Guadalupe L Rodríguez-González, Florian Rakers, Marius Nistor, Peter W Nathanielsz, Teodora Daneva, Matthias Schwab, Thomas Lehmann, Martin Schmidt
BACKGROUND: Prenatal glucocorticoid administration alters the activity of the fetal hypothalamic-pituitary-adrenocortical axis (HPAA), and correspondingly the adenocorticotropic hormone (ACTH) and cortisol levels after birth. The dosages required for these effects are critically discussed. Activation of the HPAA is related to metabolic syndrome and diabetes mellitus. Hypoglycemia is the classic side effect of antidiabetic treatment. We hypothesized that a low dosage of dexamethasone in late pregnancy alters the HPAA response to hypoglycemia in pigs...
October 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29073797/features-of-polycystic-ovary-syndrome-pcos-in-women-with-functional-hypothalamic-amenorrhea-fha-may-be-reversible-with-recovery-of-menstrual-function
#12
Enrico Carmina, Franca Fruzzetti, Roger A Lobo
OBJECTIVE: Since features of polycystic ovary syndrome (PCOS) have been found to be prevalent in women with functional hypothalamic amenorrhea (FHA), we wished to determine what happens to these features after recovery of menstrual function in FHA Design: Prospective cohort study. Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. METHODS: Twenty-eight women with FHA and 30 age-matched ovulatory controls were studied. We measured serum estradiol, LH, FSH, testosterone, DHEAS, anti-Mullerian hormone (AMH), body mass index, and ovarian morphology on transvaginal ultrasound...
October 27, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29061165/sustained-endocrine-profiles-of-a-girl-with-wagr-syndrome
#13
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29039178/-potential-clinical-application-of-kisspeptin-in-reproductive-endocrinology
#14
Yanling Fu, Yimin Zhu
Gonadotropin-releasing hormone (GnRH) plays an important role in the process of reproduction. Studies have shown that a family of peptides Kisspeptin can act on GnRH-related neurons, stimulating the secretion of GnRH, and activating the hypothalamic-pituitary-gonadal axis. Both animal experiments and clinical studies have shown that exogenous administration of Kisspeptin is able to induce physiological GnRH release in healthy individuals and those with endocrine-disorders, which brings great hope for treatment of reproductive endocrine diseases...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29021890/zebrafish-knockout-of-down-syndrome-gene-dyrk1a-shows-social-impairments-relevant-to-autism
#15
Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E Davis, Charles E Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim
BACKGROUND: DYRK1A maps to the Down syndrome critical region at 21q22. Mutations in this kinase-encoding gene have been reported to cause microcephaly associated with either intellectual disability or autism in humans. Intellectual disability accompanied by microcephaly was recapitulated in a murine model by overexpressing Dyrk1a which mimicked Down syndrome phenotypes. However, given embryonic lethality in homozygous knockout (KO) mice, no murine model studies could present sufficient evidence to link Dyrk1a dysfunction with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28990588/triglycerides-cross-the-blood-brain-barrier-and-induce-central-leptin-and-insulin-receptor-resistance
#16
W A Banks, S A Farr, T S Salameh, M L Niehoff, E M Rhea, J E Morley, A J Hanson, K M Hansen, S Craft
OBJECTIVE: Resistance at the brain receptors for leptin and insulin has been associated with increased feeding, obesity and cognitive impairments. The causal agent for central resistance is unknown but could be derived from the blood. Here we postulate whether hypertriglyceridemia, the major dyslipidemia of the metabolic syndrome, could underlie central leptin and insulin resistance. DESIGN: We used radioactively labeled triglycerides to measure blood-brain barrier (BBB) penetration, western blots to measure receptor activation, and feeding and cognitive tests to assess behavioral endpoints...
October 9, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28977204/tadalafil-protective-action-against-the-development-of-multiple-organ-failure-syndrome
#17
Granville G de Oliveira, Samer A H de Oliveira, Paulo Henrique H Botelho, Marcos Aurelio Barboza de Oliveira, Ka Bian, Ferid Murad
INTRODUCTION: Multiple organ failure syndrome (MOFS) is a pathology associated to unspecified and severe trauma, characterized by elevated morbidity and mortality. The complex inflammatory MOFS-related reactions generate important ischemia-reperfusion responses in the induction of this syndrome. Nitric oxide elevation, through the activation of cyclic guanosine monophosphate (cGMP), has the potential of counteracting the typical systemic vasoconstriction, and platelet-induced hypercoagulation...
July 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28973533/the-prader-willi-syndrome-proteins-magel2-and-necdin-regulate-leptin-receptor-cell-surface-abundance-through-ubiquitination-pathways
#18
Tishani Methsala Wijesuriya, Leentje De Ceuninck, Delphine Masschaele, Matthea R Sanderson, Karin Vanessa Carias, Jan Tavernier, Rachel Wevrick
In Prader-Willi syndrome (PWS), obesity is caused by the disruption of appetite-controlling pathways in the brain. Two PWS candidate genes encode MAGEL2 and necdin, related melanoma antigen proteins that assemble into ubiquitination complexes. Mice lacking Magel2 are obese and lack leptin sensitivity in hypothalamic pro-opiomelanocortin neurons, suggesting dysregulation of leptin receptor (LepR) activity. Hypothalamus from Magel2-null mice had less LepR and altered levels of ubiquitin pathway proteins that regulate LepR processing (Rnf41, Usp8, and Stam1)...
November 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28969495/prolonged-hypothalamic-pituitary-adrenal-axis-activation-after-acute-coronary-syndrome-in-the-genesis-praxy-cohort
#19
Andrew R Tang, Doreen M Rabi, Kim L Lavoie, Simon L Bacon, Louise Pilote, Gregory A Kline
Background Glucocorticoid excess has been linked with cardiovascular disease. Little is known about the long-term cortisol response in patients after acute coronary syndrome. Design The objective of this study was to describe the distribution of salivary cortisol in the post-acute phase of acute coronary syndrome and to describe the association of late-night salivary cortisol with cardiovascular risk factors. Methods We used late-night salivary cortisol measurements post-discharge to estimate hypothalamic-pituitary-adrenal axis activity in 309 patients aged 18-55 years enrolled in the GENESIS-PRAXY study from January 2009-April 2013...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28963545/altered-brain-and-gut-responses-to-corticotropin-releasing-hormone-crh-in-patients-with-irritable-bowel-syndrome
#20
Michiko Kano, Tomohiko Muratsubaki, Lukas Van Oudenhove, Joe Morishita, Makoto Yoshizawa, Keiji Kohno, Mao Yagihashi, Yukari Tanaka, Shunji Mugikura, Patrick Dupont, Huynh Giao Ly, Kei Takase, Motoyori Kanazawa, Shin Fukudo
Stress is a known trigger of irritable bowel syndrome (IBS) and exacerbates its gastrointestinal symptoms. However, underlying the physiological mechanism remains unknown. Here, we investigated hypothalamic-pituitary-adrenal (HPA) axis, colonic motility, and autonomic responses to corticotropin-releasing hormone (CRH) administration as well as brain activity alterations in IBS. The study included 28 IBS patients and 34 age and sex-matched healthy control subjects. IBS patients demonstrated greater adrenocorticotropic hormone (ACTH) responses to CRH than control subjects...
September 29, 2017: Scientific Reports
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