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https://www.readbyqxmd.com/read/28420857/usefulness-of-anti-rabphilin-3a-antibodies-for-diagnosing-central-diabetes-insipidus-in-the-third-trimester-of-pregnancy
#1
Kanako Sakurai, Rika Yamashita, Satsuki Niituma, Shintaro Iwama, Yoshihisa Sugimura, Zenei Arihara, Kazuhiro Takahashi
We report a 27-year-old pregnant woman with polyuria, polydipsia and headache in the third trimester of pregnancy. Hypernatremia (153 mEq/L), high plasma osmolality (300 mOsm/kgH2O) and low urinary osmolality (92 mOsm/kgH2O) were observed at the admission to our hospital. Plasma arginine vasopressin (AVP) level was inappropriately low (2.2 pg/mL) compared to the high plasma osmolality. Plasma AVP responses to hypertonic-saline infusion were blunted, and her urine osmolality increased in response to desmopressin...
April 14, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28418465/nocturnal-polyuria-drug-approved
#2
Rebecca Voelker
No abstract text is available yet for this article.
April 18, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28403376/eruption-of-yellow-brown-and-red-brown-papules-in-a-young-adult-with-polydipsia-and-polyuria
#3
Jessica M Donigan, Zachary N Collins, David A Wada
No abstract text is available yet for this article.
April 12, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28381666/acquired-fanconi-syndrome-in-two-dogs-following-long-term-consumption-of-pet-jerky-treats-in-japan-case-report
#4
Akira Yabuki, Tomoko Iwanaga, Urs Giger, Mariko Sawa, Moeko Kohyama, Osamu Yamato
Renal Fanconi syndrome has recently been associated with the ingestion of pet jerky treats from China in mostly small breed dogs in North America, Australia and Europe. We report here about two dogs with Fanconi syndrome following pet jerky treats exposure in Japan. A mixed-breed dog and a French bulldog showed weight loss, polyuria and polydipsia. For years, the owners had been feeding large quantities of pet jerky treats containing chicken prepared in China. Diagnostics revealed glycosuria without hyperglycemia, severe aminoaciduria, and in one case also ketonuria, hypokalemia and metabolic acidosis...
April 1, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#5
Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour-Hendili, Pierre-Yves Courand, Christophe Simian, Georges Deschenes, Theresa Kwon, Aurélia Bertholet-Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, Paul Cozette, Jean Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde-Chiche, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Djamal Djeddi, Brigitte Llanas, Ferielle Louillet, Elodie Merieau, Maria Mileva, Luisa Mota-Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwenaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas-Poussou
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations...
April 5, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28377335/discovery-of-diabetes-in-the-elderly-what-diagnosis
#6
Pacifique Lévy, Laurence Pacot, Jean-Philippe Bastard, Camille Vatier
Type 1 diabetes accounts for 5 to 10% of all diabetes cases. It appears most often during childhood or adolescence. We report the case of a hypertensive overweight patient of 79 years who consulted for asthenia in context of polyuria-polydipsia syndrome in which blood glucose assay revealed a diabetes mellitus associated with ketosis. Despite the age, the body mass index and the history of the patient, type 1 diabetes diagnosis should be considered in this clinical presentation with brutal and symptomatic early...
April 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28377333/prenatal-diagnosis-of-bartter-syndrome-amniotic-fluid-aldosterone
#7
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, Rosa Vargas-Poussou, Isabelle Czerkiewicz, Didier Chevenne, Jean-François Oury, Georges Deschênes, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age...
April 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28358037/type-1-diabetes-mellitus
#8
REVIEW
Anastasia Katsarou, Soffia Gudbjörnsdottir, Araz Rawshani, Dana Dabelea, Ezio Bonifacio, Barbara J Anderson, Laura M Jacobsen, Desmond A Schatz, Åke Lernmark
Type 1 diabetes mellitus (T1DM), also known as autoimmune diabetes, is a chronic disease characterized by insulin deficiency due to pancreatic β-cell loss and leads to hyperglycaemia. Although the age of symptomatic onset is usually during childhood or adolescence, symptoms can sometimes develop much later. Although the aetiology of T1DM is not completely understood, the pathogenesis of the disease is thought to involve T cell-mediated destruction of β-cells. Islet-targeting autoantibodies that target insulin, 65 kDa glutamic acid decarboxylase, insulinoma-associated protein 2 and zinc transporter 8 - all of which are proteins associated with secretory granules in β-cells - are biomarkers of T1DM-associated autoimmunity that are found months to years before symptom onset, and can be used to identify and study individuals who are at risk of developing T1DM...
March 30, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28330766/water-metabolism-dysfunction-via-renin-angiotensin-system-activation-caused-by-liver-damage-in-mice-treated-with-microcystin-rr
#9
Qing Zhong, Feng Sun, Weiguang Wang, Wenqing Xiao, Xiaoni Zhao, Kangding Gu
Microcystins (MCs) are a group of monocyclic heptapeptide toxins that have been shown to act as potent hepatotoxins. However, the observed symptoms of water metabolism disruption induced by microcystin-RR (MC-RR) or MCs have rarely been reported, and a relatively clear mechanism has not been identified. In the present study, male mice were divided into 4 groups (A: 140μg/kg, B: 70μg/kg,C: 35μg/kg, and D: 0μg/kg) and administered MC-RR daily for a month. On day 8 of treatment, an increase in water intake and urine output was observed in the high-dose group compared with the control, and the symptoms worsened with the repeated administration of the toxin until day 30...
March 19, 2017: Toxicology Letters
https://www.readbyqxmd.com/read/28319023/isolated-bilateral-simplex-ureteric-ectopia-bladder-capacity-as-an-indicator-of-continence-outcome
#10
Vasilis Stavrinides, Paul Charlesworth, Dan Wood, Divyesh Desai, Abraham Cherian, Imran Mushtaq, Peter Cuckow, Naima Smeulders
INTRODUCTION: Isolated bilateral simplex ectopic ureters (BSEUs) are rare but pose a therapeutic challenge: ureteric reimplantation alone does not accomplish continence in all. Identifying the patients needing additional procedures for continence early could prevent multiple operations. OBJECTIVE: Potential preoperative indicators for postoperative continence are explored in eight BSEU girls without cloacal, anorectal, or spinal anomalies. STUDY DESIGN: With institutional approval, all patients with BSEU between 1985 and 2012 were retrospectively reviewed...
March 6, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28295826/prevalence-types-and-associations-of-medically-unexplained-symptoms-and-signs-a-cross-sectional-study-of-1023-adults-with-intellectual-disabilities
#11
M Osugo, J Morrison, L Allan, D Kinnear, S-A Cooper
BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...
March 9, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28295650/daily-salt-intake-is-an-independent-risk-factor-for-pollakiuria-and-nocturia
#12
Tomohiro Matsuo, Yasuyoshi Miyata, Hideki Sakai
OBJECTIVE: To clarify the relationships between daily salt intake and lower urinary tract symptoms. METHODS: A cross-sectional clinical study was carried out with 728 patients. Spot urine samples were collected to evaluate estimated daily salt intake. The patients were divided into two groups based on mean salt intake (9.2 g/day). Their urinary condition was evaluated using the Core Lower Urinary Tract Symptoms score and 3-day frequency volume charts. The influence of salt intake on lower urinary tract symptoms was investigated using multivariate logistic regression analysis...
March 14, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28289066/polyuria-in-a-patient-with-aspergillus-infection
#13
Mitchell H Rosner
No abstract text is available yet for this article.
March 13, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28288174/poor-phenotype-genotype-association-in-a-large-series-of-patients-with-type-iii-bartter-syndrome
#14
Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, Gema Ariceta
INTRODUCTION: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS...
2017: PloS One
https://www.readbyqxmd.com/read/28279978/desmopressin-for-nocturia-in-adults
#15
(no author information available yet)
Desmopressin has been used for many years in the treatment of diabetes insipidus, nocturnal enuresis (involuntary urination while asleep) and nocturia associated with multiple sclerosis (in adults aged up to 65 years); it has also been recommended in certain circumstances for the treatment of nocturia in men and women (previously, an unlicensed use).(1,2) Recently, a new brand of desmopressin sublingual tablet (lyophilisate-an orally disintegrating tablet; Noqdirna-Ferring) has been licensed for use in adults of any age for the treatment of nocturia due to idiopathic nocturnal polyuria...
March 2017: Drug and Therapeutics Bulletin
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#16
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28273603/rare-presentation-of-wegener-s-granulomatosis-in-the-pituitary-gland-case-report-and-literature-review
#17
Samantha M Baird, Upasna Pratap, Catriona McLean, Candice P Law, Nicholas Maartens
INTRODUCTION: Wegener's granulomatosis (WG) is a systemic vasculitis that can affect a variety of organs including ear, nose and throat, lungs and kidneys. However WG is unusual in the pituitary and rare in the central nervous system. PRESENTATION OF CASE: A 56-year-old male with likely WG presented with polyuria and polydipsia despite six months of conservative medical management. MRI scanning revealed an enlarging heterogeneously enhancing pituitary gland. Following endoscopic transsphenoidal pituitary biopsy and debulking, final tissue pathology was diagnostic for WG in the pituitary gland...
February 20, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28272259/rathke-cleft-cyst-masquerading-as-pituitary-abscess-a-case-report
#18
Chengxian Yang, Xinjie Bao, Xiaohai Liu, Kan Deng, Ming Feng, Yong Yao, Renzhi Wang
BACKGROUND: Rathke cleft cyst (RCC) is a rare cystic sellar entity, which is usually small in size and asymptomatic in most patients. RCC presenting panhypopituitarism and a cystic lesion with rim enhancement on magnetic resonance imaging is extremely rare. Therefore, it is easy to be misdiagnosed as pituitary abscess because of the similar clinical manifestations and neuroimaging changes. CASE SUMMARY: We report a rare case of RCC masquerading as pituitary abscess clinically and radiologically with no evidence of central nervous system infection...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28265842/jean-camus-and-gustave-roussy-pioneering-french-researchers-on-the-endocrine-functions-of-the-hypothalamus
#19
Inés Castro-Dufourny, Rodrigo Carrasco, Ruth Prieto, José M Pascual
At the beginning of the twentieth century, the hypothalamus was known merely as an anatomical region of the brain lying beneath the thalamus. An increasing number of clinicopathological reports had shown the association of diabetes insipidus and adiposogenital dystrophy (Babinski-Fröhlich's syndrome), with pituitary tumors involving the infundibulum and tuber cinereum, two structures of the basal hypothalamus. The French physicians Jean Camus (1872-1924) and Gustave Roussy (1874-1948) were the first authors to undertake systematic, controlled observations of the effects of localized injuries to the basal hypothalamus in dogs and cats by pricking the infundibulo-tuberal region (ITR) with a heated needle...
March 6, 2017: Pituitary
https://www.readbyqxmd.com/read/28262212/type-b-insulin-resistance-in-peru
#20
Henry Zelada, Dante Gamarra, Hugo Arbañil, Helard Manrique
Type B insulin resistance (IR) is a rare autoimmune disease characterized by the presence of insulin receptor autoantibodies, resulting in a marked IR inducing hyperglycemia. Our first case is a 42-year-old female with a history of RA, SLE and Hashimoto-thyroiditis that presented with cachexia, acanthosis-nigricans, hirsutism, negative anti-insulin-ab and glucose level between 400 to 700 mg/dl, despite a total insulin dose of 1000 IU/day. She received pulses of cyclophosphamide along with prednisone. One year later the patient was off insulin and with HbA1c of 5...
March 2017: American Journal of the Medical Sciences
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