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Central diabetes insipidus

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https://www.readbyqxmd.com/read/27889325/-langerhans-cell-histiocytosis-and-erdheim-chester-disease-a-continuity
#1
S Parreau, J Haroche, I Pommepuy, J F Emile, J C Bourras, F Archambeaud
INTRODUCTION: Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described. OBSERVATION: A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation...
November 23, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27879307/unusual-cause-of-profound-weight-loss-in-a-young-woman
#2
Ashu Rastogi, Pavan Uppula, Kanchan Kumar Mukherjee, Anil Bhansali
A 27-year-old woman presented with anorexia, weight loss and psychiatric symptoms for the past 4 years. She did not have history of headache, visual disturbances or symptoms of raised intracranial pressure. She was sarcopenic with body mass index of 10.16 kg/m(2)Her systemic examination was normal except for temporal hemianopia suggesting a sellar/suprasellar lesion. Hormonal evaluation revealed pan-hypopituitarism with central diabetes insipidus. Subsequent neuroimaging revealed sellar-suprasellar mass lesion with intense contrast enhancement and leptomeningeal metastases...
November 22, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27857837/autoimmune-polyendocrinopathy-and-hypophysitis-after-puumala-hantavirus-infection
#3
Marlene Tarvainen, Satu Mäkelä, Jukka Mustonen, Pia Jaatinen
: Puumala hantavirus (PUUV) infection causes nephropathia epidemica (NE), a relatively mild form of haemorrhagic fever with renal syndrome (HFRS). Hypophyseal haemorrhage and hypopituitarism have been described in case reports on patients with acute NE. Chronic hypopituitarism diagnosed months or years after the acute illness has also been reported, without any signs of a haemorrhagic aetiology. The mechanisms leading to the late-onset hormonal defects remain unknown. Here, we present a case of NE-associated autoimmune polyendocrinopathy and hypopituitarism presumably due to autoimmune hypophysitis...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27845884/central-diabetes-insipidus-clinical-profile-that-suggests-organicity-in-peruvian-children-lima-peru-2001-2013
#4
Miguel Angel De Los Santos, Carlos Manuel Del Águila, Maria Isabel Rojas, Juan Manuel Falen, Oswaldo Nuñez, Eliana Manuela Chávez, Oscar Antonio Espinoza, Paola Marianella Pinto, Martha Rosario Calagua
BACKGROUND: Central diabetes insipidus (CDI) is a heterogeneous disease caused by arginine vasopressin deficiency; its management implies a profound understanding of the pathophysiology and the clinical spectrum. The aim of the study was to describe the clinical characteristics that indicate organicity in children and adolescents with central diabetes insipidus treated at the Department of Endocrinology from The Child Health's Institute during 2001 to 2013. METHODS: Cross-sectional, retrospective study...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27817141/mortality-in-adults-with-hypopituitarism-a-systematic-review-and-meta-analysis
#5
Sina Jasim, Fares Alahdab, Ahmed T Ahmed, Shrikant Tamhane, Larry J Prokop, Todd B Nippoldt, M Hassan Murad
PURPOSE: Hypopituitarism is a rare disorder with significant morbidity. To study the evidence on the association of premature mortality and hypopituitarism. METHODS: A comprehensive search of multiple databases: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Scopus was conducted through August, 2015. Eligible studies that evaluated patients with hypopituitarism and reported mortality estimates were selected following a predefined protocol...
November 5, 2016: Endocrine
https://www.readbyqxmd.com/read/27812776/critical-review-of-igg4-related-hypophysitis
#6
Junpei Shikuma, Kenshi Kan, Rokuro Ito, Kazuo Hara, Hiroyuki Sakai, Takashi Miwa, Akira Kanazawa, Masato Odawara
PURPOSE: IgG4-related hypophysitis is a rare disease, with only 34 cases published in English (2015). Available short reviews may not present complete details of IgG4-related hypophysitis. We aimed to survey case reports of IgG4-related hypophysitis, including abstracts of scientific meetings, in English and Japanese. METHODS: We searched for information about IgG4-related hypophysitis in PubMed and Igakuchuozasshi (Japan Medical Abstracts Society). Among 104 case reports found, we reviewed 84 fulfilling Leporati's diagnostic criteria...
November 3, 2016: Pituitary
https://www.readbyqxmd.com/read/27760550/clinicopathological-features-and-braf-v600e-mutations-in-patients-with-isolated-hypothalamic-pituitary-langerhans-cell-histiocytosis
#7
Zhen Huo, Tao Lu, Zhiyong Liang, Fan Ping, Jie Shen, Jingjing Lu, Wenbing Ma, Dachun Zhao, Dingrong Zhong
BACKGROUND: Isolated hypothalamic-pituitary Langerhans cell histiocytosis (HPLCH) is very rare. We investigated the clinicopathological characteristics, endocrine function changes, BRAF(V600E) mutations and treatments of isolated HPLCH. METHODS: We identified seven patients with isolated HPLCH by reviewing the clinical and pathological files in our hospital from 2007 to 2015. The clinical characteristics of the seven patients were retrospectively reviewed, especially the endocrine function changes...
October 19, 2016: Diagnostic Pathology
https://www.readbyqxmd.com/read/27759649/erdheim-chester-disease-ecd-case-report-clinical-and-basic-investigations-and-review-of-literature
#8
Mohammad Adawi, Bishara Bisharat, Abdalla Bowirrat
BACKGROUND: Erdheim-Chester disease (ECD) is an uncommon aggressive, multisystem form of non-Langerhans' cell histocytosis, which was firstly reported by Jakob Erdheim and William chester in 1930. The disease pathological features encompass an aberrant multiplication, overproduction and accumulation of white blood cells called histiocytes within multiple tissues and organs. Herein, we present a case of ECD owing to the rarity of this disease (roughly 550 cases have been described in the literature to date)...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27728176/a-case-of-central-diabetes-insipidus
#9
S Banerjee, A Kumar
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27702933/erdheim-chester-disease-25-year-history-with-early-cns-involvement
#10
C M Rice, C A Hall, P McCoubrie, S A Renowden, N Cohen, N J Scolding
We report a case of Erdheim-Chester disease (ECD) with a 25-year history following initial presentation with diabetes insipidus and brainstem involvement. The exceptionally long history is particularly notable, given that ECD is a life-threatening disorder and there is a recognised association between central nervous system involvement and poor outcome. The case is a timely reminder of the presenting features of the condition, given the emergence of potential new treatment options.
October 4, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27652275/unusual-presentation-of-central-diabetes-insipidus-in-a-patient-with-neurosarcoidosis
#11
Vedha Sanghi, Aanchal Kapoor
Hypernatremia is a frequent cause of intensive care unit admission. The patient presented in this article had hypernatremia refractory to D5W (dextrose 5% water) therapy, which led to a complex investigation. Workup revealed central diabetes insipidus most likely secondary to flare up of neurosarcoidosis. The challenge in terms of diagnosis was a presentation with low urine output in the setting of hypernatremia resistant to treatment with desmopressin. This case unfolded the role of hypothyroidism causing secondary renal dysfunction and hence needed continued treatment with thyroxine in addition to treatment for hypernatremia...
July 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27646495/prospective-study-of-hypothalamo-hypophyseal-dysfunction-in-children-and-adolescents-following-traumatic-brain-injury
#12
David Krahulik, Darina Aleksijevic, Vratislav Smolka, Eva Klaskova, Petra Venhacova, Miroslav Vaverka, Vladimir Mihal, Jirina Zapletalova
BACKGROUND AND AIMS: Retrospective studies of TBI have found a neuroendocrine dysfunction following traumatic brain injury in 23 to 60% of adults and 15 to 21% of children. Our aims were to determine the prevalence of hypothalamo-hypophyseal dysfunction in children following brain injury, assess its relationship to the type of injury and the course of the acute post-traumatic phase. PATIENTS AND METHODS: Body development (growth, pubertal development, and skeletal maturity) were evaluated in 58 patients (21 girls) after a brain injury rated 3 to 12 on the Glasgow Coma Scale (GCS)...
September 19, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/27642481/-etiological-diagnosis-of-central-diabetes-insipidus-about-41-cases
#13
Fatma Chaker, Melika Chihaoui, Meriem Yazidi, Hedia Slimane
The occurrence of polyuria-polydipsia syndrome with hypotonic urine requires careful diagnostic strategy. This study aims to evaluate diagnostic modalities for central diabetes insipidus. We conducted a retrospective study of 41 cases with central diabetes insipidus (CDI). Data were collected at the Department of Endocrinology, University Hospital La Rabta, Tunis, from 1990 to 2013. We identified the circumstances for detecting CDI, the abnormalities in anterior pituitary assessment and pituitary imaging. CDI occurred in the postoperative period in 20 patients...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27641679/functional-recovery-of-aqp2-recessive-mutations-through-hetero-oligomerization-with-wild-type-counterpart
#14
Abdulah El Tarazi, Yoann Lussier, Sandra Da Cal, Pierre Bissonnette, Daniel G Bichet
Aquaporin-2 (AQP2) is a homotetrameric water channel responsible for the final water reuptake in the kidney. Mutations in the protein induce nephrogenic diabetes insipidus (NDI), which challenges the water balance by producing large urinary volumes. Although recessive AQP2 mutations are believed to generate non-functional and monomeric proteins, the literature identifies several mild mutations which suggest the existence of mixed wt/mut tetramers likely to carry function in heterozygotes. Using Xenopus oocytes, we tested this hypothesis and found that mild mutants (V24A, D150E) can associate with wt-AQP2 in mixed heteromers, providing clear functional gain in the process (62 ± 17% and 63 ± 17% increases, respectively), conversely to the strong monomeric R187C mutant which fails to associate with wt-AQP2...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27593225/brattleboro-rats-have-impaired-apical-membrane-water-permeability-regulation-in-the-outer-medullary-collecting-duct-principal-cells
#15
Galina S Baturina, Liubov E Katkova, Sotirios G Zarogiannis, Evgeniy I Solenov
Vasopressin (AVP) regulates the body salt-water balance. Brattleboro rats carry an AVP gene mutation resulting in a recessive form of central diabetes insipidus, being ideal for AVP deficiency studies. Herein, we studied the water permeability of the apical and basolateral sides of outer medullary collecting duct (OMCD) principal cells in response to dDAVP (a V2 receptor agonist) administration in Wistar and Brattleboro rats. Biophysical measurements of the water permeability (Pf ) of isolated OMCD principal cells were performed with the calcein quenching method with/without dDAVP (10(-8)  mol/L)...
December 2016: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/27555916/a-case-of-pituitary-abscess-presenting-without-a-source-of-infection-or-prior-pituitary-pathology
#16
Derick Adams, Philip A Kern
UNLABELLED: Pituitary abscess is a relatively uncommon cause of pituitary hormone deficiencies and/or a suprasellar mass. Risk factors for pituitary abscess include prior surgery, irradiation and/or pathology of the suprasellar region as well as underlying infections. We present the case of a 22-year-old female presenting with a spontaneous pituitary abscess in the absence of risk factors described previously. Her initial presentation included headache, bitemporal hemianopia, polyuria, polydipsia and amenorrhoea...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27540876/incidence-of-central-diabetes-insipidus-in-children-presenting-with-polydipsia-and-polyuria
#17
Nadine G Haddad, Zeina M Nabhan, Erica A Eugster
OBJECTIVE: Polydipsia and polyuria are a common reason for referral to the Pediatric Endocrine clinic. In the absence of hyperglycemia, diabetes insipidus (DI) should be considered. The objectives of the study were to determine the prevalence of central DI in a group of children presenting for evaluation of polydipsia and polyuria, and to determine if predictive features were present in patients in whom the diagnosis of DI was made. METHODS: The study was a retrospective chart review of children presenting to the Endocrine clinic with complaints of polydipsia and polyuria over a 5 year period...
August 19, 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27539621/two-novel-mutations-in-seven-czech-and-slovak-kindreds-with-familial-neurohypophyseal-diabetes-insipidus-benefit-of-genetic-testing
#18
Gabriela Hrčková, Viktor Jankó, Jitka Kytnarová, Michaela Čižmárová, Markéta Tesařová, Ľudmila Košťálová, Daniela Virgová, Tomáš Dallos, Václav Hána, Jan Lebl, Jiří Zeman, László Kovács
UNLABELLED: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare hereditary disorder with unknown prevalence characterized by arginine-vasopressin hormone (AVP) deficiency resulting in polyuria and polydipsia from early childhood. We report the clinical manifestation and genetic test results in seven unrelated kindreds of Czech or Slovak origin with FNDI phenotype. The age of the sign outset ranged from 2 to 17 years with remarkable interfamilial and intrafamilial variability...
September 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27516079/lithium-poisoning
#19
Jonathan Baird-Gunning, Tom Lea-Henry, Lotte C G Hoegberg, Sophie Gosselin, Darren M Roberts
Lithium is a commonly prescribed treatment for bipolar affective disorder. However, treatment is complicated by lithium's narrow therapeutic index and the influence of kidney function, both of which increase the risk of toxicity. Therefore, careful attention to dosing, monitoring, and titration is required. The cause of lithium poisoning influences treatment and 3 patterns are described: acute, acute-on-chronic, and chronic. Chronic poisoning is the most common etiology, is usually unintentional, and results from lithium intake exceeding elimination...
August 11, 2016: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/27452130/biopsy-proven-pituitary-sarcoidosis-presenting-as-a-possible-adenoma
#20
Richard A Prayson
Sarcoidosis is a well-recognized systemic granulomatous process which involves the central nervous system in 5-15% of patients. One of the more frequent sites of central nervous system involvement is the pituitary and hypothalamic region. Involvement of the sellar region by sarcoidosis is overall an infrequent occurrence, comprising less than 1% of all intrasellar lesions. Patients typically present with an infiltrative lesion on imaging studies and clinically with symptoms related to diabetes insipidus or hyperprolactinemia...
July 21, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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