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diabetes insipidus of central origin

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https://www.readbyqxmd.com/read/27539621/two-novel-mutations-in-seven-czech-and-slovak-kindreds-with-familial-neurohypophyseal-diabetes-insipidus-benefit-of-genetic-testing
#1
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/26219407/lymphocytic-infundibulo-neurohypophysitis-a-clinical-overview
#2
REVIEW
Philip C Johnston, Luen S Chew, Amir H Hamrahian, Laurence Kennedy
Lymphocytic infundibulo-neurohypophysitis is an uncommon inflammatory disorder postulated to be autoimmune in origin. Because of the location of inflammation, it selectively affects the posterior lobe of the pituitary (neurohypophysis) and pituitary stalk (infundibulum). The most common presentation is central diabetes insipidus. Although the definitive diagnosis is established histologically by a pituitary biopsy, radiological imaging can be valuable in diagnosing this condition. In this paper, we provide an overview of the pathophysiology, investigations, management, and outcomes of lymphocytic infundibulo-neurohypophysitis...
December 2015: Endocrine
https://www.readbyqxmd.com/read/26059526/predictive-parameters-of-response-to-desmopressin-in-primary-nocturnal-enuresis
#3
RANDOMIZED CONTROLLED TRIAL
Charlotte Van Herzeele, Jonathan Evans, Paul Eggert, Henri Lottmann, Jens Peter Norgaard, Johan Vande Walle
INTRODUCTION/BACKGROUND: Many recent treatment guidelines have advocated the importance of a full noninvasive medical evaluation. To individualize treatment, special emphasis must be put on recording of the maximum voided volume (MVV) and nocturnal diuresis in a diary or frequency/volume chart. OBJECTIVE: The aim of this study was to identify any possible predictive factors to desmopressin response. STUDY DESIGN: This study is a re-analysis of a prospective, open-label, multinational, phase-IV study evaluating ≤6 months of treatment with desmopressin tablets for children with primary nocturnal enuresis...
August 2015: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/26024973/quality-of-life-in-the-patients-with-central-diabetes-insipidus-assessed-by-nagasaki-diabetes-insipidus-questionnaire
#4
Aya Nozaki, Takao Ando, Satoru Akazawa, Tsuyoshi Satoh, Ikuko Sagara, Ichiro Horie, Misa Imaizumi, Toshiro Usa, Robert T Yanagisawa, Atsushi Kawakami
Central diabetes insipidus (CDI) is characterized by polyuria and polydipsia due to a deficiency of vasopressin. Currently, the treatment goal for CDI is improvement of quality of life (QOL) by desmopressin (DDAVP) without developing hyponatremia. However, there is no reliable measure for QOL in CDI patients. We evaluate our original questionnaire for QOL, consisting of 12 questions focusing on polyuria, polydipsia, and DDAVP treatment, in CDI patients who underwent a switch from nasal spray to oral disintegrating tablets of DDAVP...
January 2016: Endocrine
https://www.readbyqxmd.com/read/25865950/erdheim-chester-disease
#5
REVIEW
Corrado Campochiaro, Alessandro Tomelleri, Giulio Cavalli, Alvise Berti, Lorenzo Dagna
Erdheim-Chester disease (ECD) is rare form of non-Langerhans cells histiocytosis with multiorgan involvement. Individuals are more frequently affected in their fifth decade and there is a slight male prevalence. Recent studies have demonstrated that ECD patients bare mutations in the proto-oncogene BRAF (and more rarely in other genes involved in the MAPK activation pathway), suggesting a critical role of this pathway in the pathogenesis and a possible clonal origin of the disease. Clinical manifestations are extremely protean and virtually every organ system can be affected...
May 2015: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/25697243/-pathophysiology-of-sodium-disorders-in-children
#6
REVIEW
Enrique Ályarez L, Emilia González C
Dysnatremia is among the most common electrolyte disorders in clinical medicine and its improper management can have serious consequences associated with increased morbidity and mortality of patients. The aim of this study is to update the pathophysiology of dysnatremia and review some simple clinical and laboratory tools, easy to interpret, that allow us to make a quick and simple approach. Dysnatremia involves water balance disorders. Water balance is directly related to osmoregulation. There are mechanisms to maintain plasma osmolality control; which are triggered by 1-2% changes...
June 2014: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/25596951/langerhans-cell-histiocytosis-diagnosis-on-thyroid-aspirate-and-review-of-the-literature
#7
REVIEW
Anjali Saqi, Adriana P Kuker, Susana A Ebner, John Ausiello, Vaidehi Jobanputra, Govind Bhagat, Tamar A Giorgadze
Thyroid gland involvement by Langerhans cell histiocytosis is extremely rare. A 35-year-old woman with a history of a suprasellar mass previously diagnosed as a ganglioglioma and complicated by diabetes insipidus, hypogonadotropic hypogonadism, and central hypothyroidism presented with acute onset of neck enlargement. On ultrasound examination, almost the entire thyroid appeared replaced by abnormal lobulated hypoechoic tissue with increased vascularity. Fine needle aspiration (FNA) of the thyroid was performed and revealed singly scattered and loosely cohesive large cells with abundant cytoplasm, including some with irregular nuclear contours and nuclear grooves...
December 2015: Head and Neck Pathology
https://www.readbyqxmd.com/read/25367057/hypoparathyroidism-and-central-diabetes-insipidus-in-search-of-the-link
#8
Ori Eyal, Asaf Oren, Harald Jüppner, Raz Somech, Annamaria De Bellis, Michael Mannstadt, Auryan Szalat, Margalit Bleiberg, Yosef Weisman, Naomi Weintrob
UNLABELLED: Two siblings (a 15-year-old boy and an 11-year-old girl) who presented with hypocalcemic seizure at the age of 2 years and 2 months (boy) and 2 years and 4 months (girl) were diagnosed with hypoparathyroidism. At the age of 3 years, the girl developed central diabetes insipidus with good response to desmopressin acetate treatment. The family history was unremarkable, and there was no consanguinity between the parents. The father is of Iraqi/Egyptian Jewish origin and the mother is of Iranian/Romanian Jewish origin...
December 2014: European Journal of Pediatrics
https://www.readbyqxmd.com/read/25105512/technical-strategies-for-the-transcallosal-transforaminal-approach-to-third-ventricle-tumors-expanding-the-operative-corridor
#9
Prayash Patel, Aaron A Cohen-Gadol, Frederick Boop, Paul Klimo
OBJECT: There are a number of surgical approaches to the third ventricle, each with advantages and disadvantages. Which approach to use depends on the location of the lesion within the ventricle, the goals of the operation, and the surgeon's experience. The authors present their results in children with a modified approach through the expanded foramen of Monro. METHODS: A retrospective study was conducted to identify and analyze all children who underwent what the authors term the "expanded transforaminal" approach to the third ventricle between 2010 and 2013...
October 2014: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/24904886/inflamed-symptomatic-sellar-arachnoid-cyst-case-report
#10
Kwang Hyon Park, Ho-Shin Gwak, Eun Kyung Hong, Sang Hyun Lee
Sellar arachnoid cysts are rare; an infected arachnoid cyst is extremely rare as only one case has been reported to date in the literature. Here, we report a patient with an infected or inflamed sellar arachnoid cyst that was successfully treated with transsphenoidal surgery (TSA). A 53-year-old female with a history of chronic sinusitis developed a headache 5 months ago, and one month before admission polyuria, polydipsia, and abnormal vaginal bleeding occurred. The magnetic resonance imaging (MRI) showed a sellar cystic mass with a thickened pituitary stalk...
April 2013: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/24837565/-neuroimaging-of-langerhans-cell-histiocytosis-in-the-central-nervous-system-of-children
#11
M De La Hoz Polo, M Rebollo Polo, C Fons Estupiña, J Muchart López, O Cruz Martinez
Langerhans cell histiocytosis (LCH) is a rare disease characterized by the accumulation within tissues of anomalous dendritic cells similar to Langerhans cells. The clinical presentation varies, ranging from the appearance of a single bone lesion to multisystemic involvement. Central nervous system (CNS) involvement, manifesting as diabetes insipidus secondary to pituitary involvement, has been known since the original description of the disease. Two types of CNS lesions are currently differentiated. The first, pseudotumoral lesions with infiltration by Langerhans cells, most commonly manifests as pituitary infiltration...
March 2015: Radiología
https://www.readbyqxmd.com/read/24245102/-a-not-very-essential-obesity-the-rohhad-syndrome-description-of-two-cases-and-review-of-the-literature
#12
REVIEW
V Ramistella, M Wasniewska, M Valenzise, D Corica, S Cantucci, E Pitrolo, M Romeo, F De Luca
UNLABELLED: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder. Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia); alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency)...
July 2013: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/23644438/severe-water-intoxication-secondary-to-the-concomitant-intake-of-non-steroidal-anti-inflammatory-drugs-and-desmopressin-a-case-report-and-review-of-the-literature
#13
Elisa Verrua, Giovanna Mantovani, Emanuele Ferrante, Andrea Noto, Elisa Sala, Elena Malchiodi, Gaetano Iapichino, Paolo Beck Peccoz, Anna Spada
Most of the clinical data on the safety profile of desmopressin (DDAVP), which is an effective treatment for both polyuric conditions and bleeding disorders, originate from studies on the tailoring of drug treatment, whereas few reports exist describing severe side effects secondary to drug-drug interaction. We herein describe a case of severe hyponatremia complicated by seizure and coma due to the intake of non-steroidal anti-inflammatory drugs (NSAIDs) in a patient on DDAVP replacement therapy for central diabetes insipidus (DI)...
January 2013: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/23624139/severe-water-intoxication-secondary-to-the-concomitant-intake-of-non-steroidal-anti-inflammatory-drugs-and-desmopressin-a-case-report-and-review-of-the-literature
#14
REVIEW
Elisa Verrua, Giovanna Mantovani, Emanuele Ferrante, Andrea Noto, Elisa Sala, Elena Malchiodi, Gaetano Iapichino, Paolo Beck Peccoz, Anna Spada
Most of the clinical data on the safety profile of desmopressin (DDAVP), which is an effective treatment for both polyuric conditions and bleeding disorders, originate from studies on the tailoring of drug treatment, whereas few reports exist describing severe side effects secondary to drug-drug interaction. We herein describe a case of severe hyponatremia complicated by seizure and coma due to the intake of non-steroidal anti-inflammatory drugs (NSAIDs) in a patient on DDAVP replacement therapy for central diabetes insipidus (DI)...
January 2013: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/23508789/a-case-of-syndrome-of-inappropriate-scretion-of-anti-diuretic-hormone-associated-with-sodium-valproate
#15
Hong Joo Lee, Jung Kook Wi, Ju Young Moon, Kyung Hwan Jeong, Chun Gyoo Ihm, Sang Ho Lee, Tae Won Lee
We report a rare case of the concurrent manifestation of central diabetes insipidus (CDI) and type 2 diabetes mellitus (DM). A 56 year-old man was diagnosed as a type 2 DM on the basis of hyperglycemia with polyuria and polydipsia at a local clinic two months ago and started an oral hypoglycemic medication, but resulted in no symptomatic improvement at all. Upon admission to the university hospital, the patient's initial fasting blood sugar level was 140 mg/dL, and he showed polydipsic and polyuric conditions more than 8 L urine/day...
December 2012: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/23508726/polyuria-with-the-concurrent-manifestation-of-central-diabetes-insipidus-cdi-type-2-diabetes-mellitus-dm
#16
Hyun-Jong Shin, Jae-Ha Kim, Joo-Hark Yi, Sang-Woong Han, Ho-Jung Kim
We report a rare case of the concurrent manifestation of central diabetes insipidus (CDI) and type 2 diabetes mellitus (DM). A 56 year-old man was diagnosed as a type 2 DM on the basis of hyperglycemia with polyuria and polydipsia at a local clinic two months ago and started an oral hypoglycemic medication, but resulted in no symptomatic improvement at all. Upon admission to the university hospital, the patient's initial fasting blood sugar level was 140 mg/dL, and he showed polydipsic and polyuric conditions more than 8 L urine/day...
December 2012: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/22374125/the-evolutionary-origin-of-the-vasopressin-v2-type-receptor-aquaporin-axis-and-the-urine-concentrating-mechanism
#17
REVIEW
Kristian Vinter Juul
In this mini-review, current evidence for how the vasopressin/V2-type receptor/aquaporin axis developed co-evolutionary as a crucial part of the urine-concentrating mechanism will be presented. The present-day human kidney, allowing the concentration of urine up to a maximal osmolality around 1200 mosmol kg(-1)-or urine to plasma osmolality ratio around 4-with essentially no sodium secreted is the result of up to 3 billion years evolution. Moving from aquatic to terrestrial habitats required profound changes in kidney morphology, most notable the loops of Henle modifying the kidneys from basically a water excretory system to a water conserving system...
August 2012: Endocrine
https://www.readbyqxmd.com/read/22323586/central-diabetes-insipidus-associated-with-impaired-renal-aquaporin-1-expression-in-mice-lacking-liver-x-receptor-%C3%AE
#18
Chiara Gabbi, Xiaomu Kong, Hitoshi Suzuki, Hyun-Jin Kim, Min Gao, Xiao Jia, Hideo Ohnishi, Yoichi Ueta, Margaret Warner, Youfei Guan, Jan-Åke Gustafsson
The present study demonstrates a key role for the oxysterol receptor liver X receptor β (LXRβ) in the etiology of diabetes insipidus (DI). Given free access to water, LXRβ(-/-) but not LXRα(-/-) mice exhibited polyuria (abnormal daily excretion of highly diluted urine) and polydipsia (increased water intake), both features of diabetes insipidus. LXRβ(-/-) mice responded to 24-h dehydration with a decreased urine volume and increased urine osmolality. To determine whether the DI was of central or nephrogenic origin, we examined the responsiveness of the kidney to arginine vasopressin (AVP)...
February 21, 2012: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/20329585/-central-diabetes-insipidus-in-adult-patients-the-first-sign-of-langerhans-cell-histiocytosis-and-erdheim-chester-disease-three-case-studies-and-literature-review
#19
REVIEW
Z Adam, K Balsíková, M Krejcí, L Pour, S Stĕpánková, P Svacina, M Hermanová, J Vanícek, P Krupa, J Stanícek, R Koukalová, J Neubauer, A Krivanová, J Mayer, R Hájek
Central diabetes insipidus with an onset in adulthood is very rare. Unlike in children, central diabetes insipidus in adults is more frequently caused by inflammatory processes and neoplastic infiltrations that do not originate from the neuronal tissue than primary neuronal tissue tumours. Rare histiocytic neoplasias (Langerhans cell histiocytosis, xanthogranulomatosis and Erdheim-Chester disease) have a specific affinity to hypothalamus and the pituitary stalk not only in paediatric patients but also when occurring in adults...
February 2010: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/19777917/-germinoma-responsible-for-central-diabetes-insipidus
#20
N Bakoto, M Strivay
We report the case of a 20-year-old woman who presented with sudden onset of polydipsia and polyuria. A diagnosis of diabetes insipidus was confirmed and the MRI showed a pituitary stalk enlargement. The patient was treated with Minirin. Two years later, she developed a panhypopituitarism. The MRI showed an intrasellar mass with an enlargement of the pituitary gland. A biopsy confirmed a germinoma. The patient was treated with radiotherapy with a partial response as only a part of the mass disappeared. This case highlights the importance of the clinical and radiological follow-up of central diabetes insipidus, especially when it is of unknown origin...
July 2009: Revue Médicale de Liège
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