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https://www.readbyqxmd.com/read/28319023/isolated-bilateral-simplex-ureteric-ectopia-bladder-capacity-as-an-indicator-of-continence-outcome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
(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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28261769/evaluation-of-risk-factors-and-development-of-acute-kidney-injury-in-aneurysmal-subarachnoid-hemorrhage-head-injury-and-severe-sepsis-septic-shock-patients-during-icu-treatment
#12
Ceren Kamar, Achmet Ali, Demet Altun, Günseli Orhun, Akın Sabancı, Altay Sencer, İbrahim Özkan Akıncı
BACKGROUND: There are few studies examining development of acute kidney injury (AKI) in the various types of patients in intensive care units (ICUs). Presently described is evaluation of risk factors and development of AKI in different groups of ICU patients. METHODS: Present study was performed in 3 different ICUs. Development of AKI was measured using Acute Kidney Injury Network (AKIN) classification system. Total of 300 patients who were treated in trauma, neurosurgery, or general ICU departments (due to head injury, aneurysmal subarachnoid hemorrhage [aSAH], or severe sepsis/septic shock, respectively) were assessed for incidence, risk factors, and development of AKI...
January 2017: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/28255420/complete-resection-of-a-primitive-neuroectodermal-tumour-arising-in-the-bladder-of-a-31-year-old-female-after-neoadjuvant-chemotherapy
#13
Cameron J Lam, Bobby Shayegan
Primitive neuroectodermal tumours (PNET) that arise in the urinary bladder are an extremely rare occurrence. Very few cases have been reported so far in the literature1-13 and we report another case here in a 31-year-old-female. The patient presented with polyuria, gross hematuria, followed by development of anuria, and was discovered to have a 9.4 cm mass arising in the posterolateral aspect of the bladder. Histologically, the tumour showed small, round, blue cells. Further analysis using break-apart fluorescent in situ hybridization (FISH) revealed non-random chromosomal translocations of the ews gene suggestive of Ewing sarcoma (ES)/PNET...
July 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28248860/rapid-exacerbation-of-lymphocytic-infundibuloneurohypophysitis
#14
Kimitaka Shibue, Toshihito Fujii, Hisanori Goto, Yui Yamashita, Yoshihisa Sugimura, Masahiro Tanji, Akihiro Yasoda, Nobuya Inagaki
RATIONALE: Lymphocytic hypophysitis is a relatively rare autoimmune disease defined by lymphocytic infiltration to the pituitary. Its rarity and wide spectrum of clinical manifestations make clarification of the pathology difficult. Here, we describe a case we examined from the primary diagnosis to final discharge, showing the serial progression of lymphocytic infundibuloneurohypophysitis (LINH) to panhypopituitarism with extrapituitary inflammatory invasion in a short period, and responding favorably to high-dose glucocorticoid treatment...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28241874/restored-vision-in-a-young-dog-following-corticosteroid-treatment-of-presumptive-hypophysitis
#15
Nina Marie Rzechorzek, Tiziana Liuti, Catherine Stalin, Katia Marioni-Henry
BACKGROUND: Hypophysitis is an umbrella term for a group of disorders involving inflammation of the pituitary gland. A rare occurrence in humans, hypophysitis can produce a range of clinical signs including (but not limited to) visual deficits and diabetes insipidus. Only five cases of canine hypophysitis exist in the literature, all presenting in mature dogs with no visual deficits and a grave outcome. This case report describes the clinical and advanced imaging features of blindness-inducing presumptive hypophysitis in a dog, which rapidly resolved with medical management...
February 28, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28239141/chronic-myeloid-leukemia-associated-hypercalcemia-a-case-report-and-literature-review
#16
REVIEW
David Toro-Tobón, Sarimar Agosto, Sara Ahmadi, Maureen Koops, Jan M Bruder
BACKGROUND Hypercalcemia associated with chronic myeloid leukemia (CML) is an ominous sign. Although rare, several cases have been reported and multiple pathophysiologic mechanisms have been independently proposed. We present a patient case and a literature review of the clinical presentation and mechanisms of CML-associated hypercalcemia. CASE REPORT A 58-year-old male with a past medical history of CML diagnosed six years earlier, presented to the emergency department with one week of acute confusion, disorientation, polyuria, and polydipsia...
February 27, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28238446/ctns-molecular-genetics-profile-in-a-persian-nephropathic-cystinosis-population
#17
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A Gahl, Babak Behnam
PURPOSE: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS...
February 23, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28218410/pharmacokinetics-and-pharmacodynamics-of-tolvaptan-in-autosomal-dominant-polycystic-kidney-disease-phase-2-trials-for-dose-selection-in-the-pivotal-phase-3-trial
#18
Susan E Shoaf, Arlene B Chapman, Vicente E Torres, John Ouyang, Frank S Czerwiec
In the pivotal TEMPO 3:4 trial, the arginine vasopressin V2-receptor antagonist tolvaptan reduced the rate of kidney growth in patients with autosomal dominant polycystic kidney disease. Tolvaptan was initiated as daily morning/afternoon doses of 45/15 mg, and uptitrated weekly to 60/30 mg and 90/30 mg according to patient-reported tolerability. The current report describes 3 phase 2 trials in adult autosomal dominant polycystic kidney disease subjects that were the basis for the titrated split-dose regimen: a single ascending-dose trial (tolvaptan 15 to 120 mg; n = 11), a multiple split-dose trial (tolvaptan 15/15 mg, 30/0 mg, 30/15 mg, and 30/30 mg; n = 37), and an 8-week open-label safety and efficacy trial in 46 of the 48 subjects who participated in the prior 2 trials (tolvaptan 30/15 mg, 45/15 mg, 60/30 mg, and 90/30 mg)...
February 20, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28208214/pathogenesis-of-enuresis-towards-a-new-understanding
#19
REVIEW
Tryggve Nevéus
Enuresis was historically viewed as a primarily psychiatric disorder, but this understanding has changed dramatically since the end of the last century, when it became clear that somatic factors, such as nocturnal polyuria as a result of vasopressin deficiency, nocturnal detrusor overactivity and high arousal thresholds, all play a crucial role in enuresis pathogenesis. It has also become clear that enuresis is inherited in the majority of cases, although the correlation between genotype and enuretic phenotype is not straightforward...
February 16, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28165541/obstructive-sleep-disordered-breathing-enuresis-and-combined-disorders-in-children-chance-or-related-association
#20
Marco Zaffanello, Giorgio Piacentini, Giuseppe Lippi, Vassilios Fanos, Emma Gasperi, Luana Nosetti
Nocturnal enuresis is usually diagnosed and treated by a primary paediatrician or family practitioner; if there is any doubt, the children may be referred to a paediatric urologist. Obstructive sleep-disordered breathing is a complex, multifactorial disorder. Adenotonsillar hypertrophy is considered an important factor associated with obstructive sleep apnoea syndrome. Enuresis and obstructive sleep-disordered breathing are both frequent problems of sleep in childhood. We conducted an electronic search in Medline, Scopus and the ISI Web of Science to look for published material and identify a putative link between nocturnal enuresis and obstructive sleep-disordered breathing...
February 6, 2017: Swiss Medical Weekly
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