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https://www.readbyqxmd.com/read/29781512/natural-history-of-rathke-s-cleft-cysts-a-retrospective-analysis-of-a-two-centers-experience
#1
Elisa Sala, Justin M Moore, Alvaro Amorin, Giulia Carosi, Hector Martinez, Griffith R Harsh, Maura Arosio, Giovanna Mantovani, Laurence Katznelson
OBJECTIVE: Rathke's Cleft Cyst (RCC) is a common sellar lesion which may cause visual impairment, hypopituitarism, and headaches from mass effect. The natural history of these lesions is currently unclear. We investigated the natural history of RCCs and compared surgically treated patients with those treated conservatively. METHODS: We performed a retrospective cohort study of patients diagnosed with a RCC between 1996 and 2016 at Stanford University and Ospedale Maggiore Policlinico di Milano...
May 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29775155/long-term-surgical-outcomes-following-transsphenoidal-surgery-in-patients-with-rathke-s-cleft-cysts
#2
Michelle Lin, Michelle A Wedemeyer, Daniel Bradley, Daniel A Donoho, Vance L Fredrickson, Martin H Weiss, John D Carmichael, Gabriel Zada
OBJECTIVE Rathke's cleft cysts (RCCs) are benign epithelial lesions of the sellar region typically treated via a transsphenoidal approach with cyst fenestration and drainage. At present, there is limited evidence to guide patient selection for operative treatment. Furthermore, there is minimal literature describing factors contributing to cyst recurrence. METHODS The authors conducted a retrospective analysis of 109 consecutive cases of pathology-confirmed RCCs treated via a transsphenoidal approach at a single center from 1995 to 2016...
May 18, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29774890/genetic-and-clinical-aspects-of-wolfram-syndrome-1-a-severe-neurodegenerative-disease
#3
REVIEW
Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS...
May 2018: Pediatric Research
https://www.readbyqxmd.com/read/29767319/endoscopic-vs-microscopic-transsphenoidal-surgery-for-cushing-s-disease-a-systematic-review-and-meta-analysis
#4
Leonie H A Broersen, Nienke R Biermasz, Wouter R van Furth, Friso de Vries, Marco J T Verstegen, Olaf M Dekkers, Alberto M Pereira
PURPOSE: Systematic review and meta-analysis comparing endoscopic and microscopic transsphenoidal surgery for Cushing's disease regarding surgical outcomes (remission, recurrence, and mortality) and complication rates. To stratify the results by tumor size. METHODS: Nine electronic databases were searched in February 2017 to identify potentially relevant articles. Cohort studies assessing surgical outcomes or complication rates after endoscopic or microscopic transsphenoidal surgery for Cushing's disease were eligible...
May 16, 2018: Pituitary
https://www.readbyqxmd.com/read/29755523/hypophyseal-involvement-in-immunoglobulin-g4-related-disease-a-retrospective-study-from-a-single-tertiary-center
#5
Yang Liu, Linjie Wang, Wen Zhang, Hui Pan, Hongbo Yang, Kan Deng, Lin Lu, Yong Yao, Shi Chen, Xiaofeng Chai, Feng Feng, Hui You, Zimeng Jin, Huijuan Zhu
This study aims to outline the clinical features and outcomes of IgG4-related hypophysitis (IgG4-RH) patients in a tertiary medical center. We reviewed clinical manifestations and imaging and pituitary function tests at baseline, as well as during follow-up. Ten patients were included. The mean age at diagnosis of IgG4-RH was 48.4 (16.0-64.0) years. An average of 3 (0-9) extrapituitary organs were involved. Five patients had panhypopituitarism, three had only posterior hypopituitarism, one had only anterior hypopituitarism, and one had a normal pituitary function...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29755270/histiocytic-lesions-of-the-orbit-a-study-of-9-cases
#6
A Kaan Gündüz, Emine Temel
Purpose: To describe the clinical presentation, treatment, and outcome of patients with histiocytic lesions of the orbit. Methods: Retrospective study of 9 patients treated and followed up between October 2001 and January 2018. Results: Eight patients in our series were males and one patient was female. The mean age at presentation was 16.8 years (range, 1 to 42 years). All patients had unilateral disease. The most common presenting complaint was upper eyelid swelling in 8 of 9...
January 2018: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29752700/neuro-radiological-features-can-predict-hypopituitarism-in-primary-autoimmune-hypophysitis
#7
Tommaso Tartaglione, Sabrina Chiloiro, Maria Elena Laino, Antonella Giampietro, Simona Gaudino, Angelo Zoli, Antonio Bianchi, Alfredo Pontecorvi, Cesare Colosimo, Laura De Marinis
Primary autoimmune hypophysitis (PAH) is considered an underdiagnosed disease, due to the difficulty in reaching a definitive diagnosis. PAH clinical diagnosis remains an exclusion diagnosis. We aimed to correlate PAH neuro-radiological signs to endocrine features and evaluate their prognostic role. 24 PAH cases were enrolled and classified according to neuro-radiological signs: in 12 adeno-hypophysitis (AHs), 8 infundibulo-neuro-hypophysitis (INHs) and 4 pan-hypophysitis (PHs). Secondary hypogonadism developed more frequently in INHs as compared to AHs (54...
May 11, 2018: Pituitary
https://www.readbyqxmd.com/read/29752488/open-resection-of-hypothalamic-hamartomas-for-intractable-epilepsy-revisited-using-intraoperative-mri
#8
Libby van Tonder, Sasha Burn, Anand Iyer, Jo Blair, Mohammed Didi, Michael Carter, Timothy Martland, Conor Mallucci
INTRODUCTION: Hypothalamic hamartomas (HHs) are rare non-neoplastic lesions which cause drug-resistant epilepsy with associated behavioural, psychiatric and endocrine issues. With the development of new minimally invasive techniques for the treatment of HH, there is a need to reappraise the effectiveness and safety of each approach. We review the outcomes of HH patients treated surgically, utilizing intraoperative magnetic resonance imaging (IOMRI), by a team of Alder Hey NHS Foundation Trust tumour and epilepsy neurosurgeons since 2011...
May 11, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29728875/natural-history-and-clinical-characteristics-of-50-patients-with-wolfram-syndrome
#9
Gema Esteban Bueno, Dyanne Ruiz-Castañeda, Javier Ruiz Martínez, Manuel Romero Muñoz, Pedro Carrillo Alascio
PURPOSE: To describe clinical characteristics of diabetes mellitus (DM) in a group of patients with Wolfram Syndrome (WS). METHODS: Descriptive, cross-sectional observational design. The sample consisted of 50 patients diagnosed with WS. Clinical criteria contributing to WS diagnosis were analyzed: diabetes mellitus (DM), optic nerve atrophy (OA), sensorineural deafness, urological and neurological dysfunction, among others. These parameters were assessed according to their presence/absence, age of onset, and various clinical-analytical parameters...
May 4, 2018: Endocrine
https://www.readbyqxmd.com/read/29724799/-18-f-fdg-pet-ct-for-the-evaluation-of-primary-eosinophilic-granuloma-of-the-hypothalamus
#10
Anna Eshghi, Robert Klein, Naghmehossadat Eshghi, Phillip Hsin Kuo
A 21-year-old man presented with polyuria and polydipsia and was discovered to have diabetes insipidus due to eosinophilic granuloma of the hypothalamus. 18 F FDG-PET/CT for metastatic work-up revealed an intensely FDG avid hypothalamic mass and no other sites of disease.
May 3, 2018: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/29722489/-study-of-diagnostic-value-of-natremia-in-a-cohort-of-patients-with-hypercalcemia
#11
A Le, B Couturier, E Cogan, F Vandergheynst
INTRODUCTION: Hypercalcemia is a common pathological condition in clinical practice. The two most common causes are primary hyperparathyroidism and cancer. SIADH is often encountered in cancer cases and is the most common cause of hyponatremia. The aim of this study is to evaluate serum sodium levels in a cohort of patients with hypercalcemia and consider its predictive value in determining the origin of this hypercalcemia. MATERIALS AND METHODS: We performed a retrospective study on a series of 15...
2018: Revue Médicale de Bruxelles
https://www.readbyqxmd.com/read/29716529/severe-localised-granulomatosis-with-polyangiitis-wegener-s-granulomatosis-manifesting-with-extensive-cranial-nerve-palsies-and-cranial-diabetes-insipidus-a-case-report-and-literature-review
#12
James E Peters, Vivek Gupta, Ibtisam T Saeed, Curtis Offiah, Ali S M Jawad
BACKGROUND: Granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis) is a multisystem vasculitis of small- to medium-sized blood vessels. Cranial involvement can result in cranial nerve palsies and, rarely, pituitary infiltration. CASE PRESENTATION: We describe the case of a 32 year-old woman with limited but severe GPA manifesting as progressive cranial nerve palsies and pituitary dysfunction. Our patient initially presented with localised ENT involvement, but despite treatment with methotrexate, she deteriorated...
May 1, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29696555/desmopressin-induced-severe-hyponatremia-with-central-pontine-myelinolysis-a-case-report
#13
Tanzib Hossain, Marya Ghazipura, Vineet Reddy, Pedro J Rivera, Vikramjit Mukherjee
Desmopressin, a synthetic vasopressin analog, is used to treat central diabetes insipidus, hemostatic disorders such as von Willebrand's disease, and nocturnal enuresis. We present the case of a 69-year-old man who developed severe hyponatremia during treatment with intranasal desmopressin at 10 µg twice daily for chronic polyuria and nocturia thought to be due to central diabetes insipidus. After 5 months of therapy, the patient noticed progressive fatigue, anorexia, dizziness, weakness, light-headedness, decreased concentration, and new-onset falls...
April 25, 2018: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/29686164/-treatment-of-rathke-s-cleft-cyst-technical-note-for-preservation-of-pituitary-function
#14
Miiko Ito, Kenichiro Matsuda, Atsushi Kuge, Shinya Sato, Takamasa Kayama, Yukihiko Sonoda
Pituitary dysfunction, such as panhypopituitarism or diabetes insipidus(DI), is often found in patients with Rathke's cleft cyst. Patients were treated with transsphenoidal microscopic surgery; however, pituitary dysfunction did not usually recover. Recently, endoscopic transsphenoidal surgery(eTSS)has enabled minimally invasive surgery for patients with Rathke's cleft cyst. In this study, we analyzed 22 consecutive patients with Rathke's cleft cyst who underwent eTSS to determine if pituitary dysfunction recovered...
April 2018: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29681579/a-rat-model-for-pituitary-stalk-electric-lesion-induced-central-diabetes-insipidus-application-of-3d-printing-and-further-outcome-assessments
#15
Zhanpeng Feng, Yichao Ou, Mingfeng Zhou, Guangsen Wu, Linzi Ma, Yun Bao, Binghui Qiu, Songtao Qi
A stable and reproducible rat injury model is not currently available to study central diabetes insipidus (CDI) and the neurohypophyseal system. In addition, a system is needed to assess the severity of CDI and measure the accompanying neurobiological alterations. In the present study, a 3D-printed lesion knife with a curved head was designed to fit into the stereotaxic instrument. The neuro-anatomical features of the brain injury were determined by in vivo magnetic resonance imaging (MRI) and arginine vasopressin (AVP) immunostaining on brain sections...
April 20, 2018: Experimental Animals
https://www.readbyqxmd.com/read/29675260/one-too-many-diabetes-the-combination-of-hyperglycaemic-hyperosmolar-state-and-central-diabetes-insipidus
#16
Snezana Burmazovic, Christoph Henzen, Lukas Brander, Luca Cioccari
The combination of hyperosmolar hyperglycaemic state and central diabetes insipidus is unusual and poses unique diagnostic and therapeutic challenges for clinicians. In a patient with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology that is considered, and achieving glycaemic control remains the first course of action. However, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and urine osmolality suggest concurrent symptomatic diabetes insipidus...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29668472/obesity-in-childhood-and-adolescence-genetic-factors
#17
Marko Kostovski, Velibor Tasic, Nevena Laban, Momir Polenakovic, Dragan Danilovski, Zoran Gucev
Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29659364/-association-between-central-diabetes-insipidus-and-type-2-diabetes-mellitus
#18
Claudia Palumbo, Nora Nicolaci, Andrés A La Manna, Natalia Branek, María N Pissano
Central diabetes insipidus is a rare disease of the hypothalamus and neurohypophysis. It is very unusually found in the adult with type 2 diabetes mellitus. It is manifested by a polydipsic polyuric syndrome, which must be distinguished from the poorly controlled type 2 diabetes mellitus. Given the similarity of both entities and the unusual nature of their coexistence, their suspicion is difficult. The case of a 72-year-old male with type 2 diabetes mellitus with poor insulin control (fasting hyperglycemia greater than 180 mg/dl) who had a long-standing polyuric syndrome is here presented...
2018: Medicina
https://www.readbyqxmd.com/read/29657217/systemic-lupus-erythematosus-with-sj%C3%A3-gren-s-syndrome-and-renal-tubular-acidosis-presenting-as-nephrogenic-diabetes-insipidus
#19
Ashaq Hussain Parrey, Fayaz Ahmad, Mushtaq Ahmad, Adil Basher
Systemic lupus erythematosus (SLE) presenting as diabetes insipidus (DI) is a rare association; there is a case report of neurogenic DI in patients of SLE; however, SLE and nephrogenic DI has not been reported in literature. We present a case of SLE presenting as nephrogenic DI. We report a case who presented with DI (nephrogenic) and fulfilled criteria for SLE and Sjögren's syndrome with renal tubular acidosis.
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29650969/akaps-pka-disruptors-increase-aqp2-activity-independently-of-vasopressin-in-a-model-of-nephrogenic-diabetes-insipidus
#20
Fumiaki Ando, Shuichi Mori, Naofumi Yui, Tetsuji Morimoto, Naohiro Nomura, Eisei Sohara, Tatemitsu Rai, Sei Sasaki, Yoshiaki Kondo, Hiroyuki Kagechika, Shinichi Uchida
Congenital nephrogenic diabetes insipidus (NDI) is characterized by the inability of the kidney to concentrate urine. Congenital NDI is mainly caused by loss-of-function mutations in the vasopressin type 2 receptor (V2R), leading to impaired aquaporin-2 (AQP2) water channel activity. So far, treatment options of congenital NDI either by rescuing mutant V2R with chemical chaperones or by elevating cyclic adenosine monophosphate (cAMP) levels have failed to yield effective therapies. Here we show that inhibition of A-kinase anchoring proteins (AKAPs) binding to PKA increases PKA activity and activates AQP2 channels in cortical collecting duct cells...
April 12, 2018: Nature Communications
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