A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status —maintaining quality of life—are of crucial importance. AbstractGiven the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status —maintaining quality of life—are of crucial importance.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research

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Source: Journal of Public Health Management and Practice - Category: Health Management Tags: Research Reports: Case Study Source Type: research
This study evaluated a novel composite measure of health literacy and numeracy by assessing its predictive validity for diabetes self-care activities and glycemic control. Methods: Patients (N = 102) with type 2 diabetes were recruited from a family medicine clinic at an academic medical center. Combined health literacy was assessed by combining the results of the Health Literacy Scale and the Subjective Numeracy Scale. Self-management activities were assessed by the Summary of Diabetes Self-Care Activities scale. Hemoglobin A1c (A1c) values were extracted from patients' medical records to assess glycemic control. Path ...
Source: Journal of Public Health Management and Practice - Category: Health Management Tags: Research Reports: Research Full Report Source Type: research
ConclusionsWeight loss after EGJR is sustained up to 5  years after revision with little effect on medical comorbidities. Patients with a greater reduction in stoma diameter experienced superior weight loss.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
In this study, wound-related outcomes are examined, comparing patients who underwent surgery before (Group 1) versus after (Group 2) this intervention. Statistical analysis performed utilizingt tests and Chi square analysis;p 
Source: Surgical Endoscopy - Category: Surgery Source Type: research
We present a child who was incidentally found to have right hydronephrosis secondary to ureteropelvic junction obstruction, and was subsequently also diagnosed with NDI. After being medically managed, he underwent open right pyeloplasty. His polydipsia abated within 1 month of surgery, and he has done well off of medications since that time.
Source: Urology - Category: Urology & Nephrology Authors: Tags: Pediatric Case Reports Source Type: research
We present a child who was incidentally found to have right hydronephrosis secondary to ureteropelvic junction obstruction, and was subsequently also diagnosed with NDI. After being medically managed, he underwent open right pyeloplasty. His polydipsia abated within one month of surgery, and he has done well off of medications since that time.
Source: Urology - Category: Urology & Nephrology Authors: Tags: Pediatric Case Reports Source Type: research
Contributors : Takafumi Suzuki ; Shiori Seki ; Keiichiro Hiramoto ; Eriko Naganuma ; Eri H Kobayashi ; Ayaka Yamaoka ; Liam Baird ; Nobuyuki Takahashi ; Hiroshi Sato ; Masayuki YamamotoSeries Type : Expression profiling by arrayOrganism : Mus musculusNF-E2-related factor-2 (Nrf2) regulates the cellular response to oxidative/electrophilic stresses, and loss of Keap1 increases the Nrf2 protein level. As Keap1-null mice die of esophageal hyperkeratosis, whole-body phenotypes of Nrf2 hyperactivation in adult animals remain to be delineated. Here we show that deleting esophageal Nrf2 in Keap1-null mice the mice survive until ad...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
We describe the case of a 56-year-old man with acute renal failure and tuberoinfundibular hypophysitis due to IgG4-RD. Steroid therapy lowered the serum IgG4 level and ameliorated renal dysfunction, bilateral hydronephrosis and retroperitoneal fibrosis. However, polyuria from post-obstructive diuresis and unmasked central diabetes insipidus ensued. The patient's polyuria continued despite the administration of a therapeutic dose of glucocorticoid; the patient's pituitary swelling and anterior pituitary dysfunction were partially ameliorated. The pituitary swelling recurred seven months later. In patients with IgG4-RD, the ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Vhl deletion in renal epithelia causes HIF-1α-dependent, HIF-2α-independent angiogenesis and constitutive diuresis. Oncotarget. 2016 Aug 12; Authors: Schönenberger D, Rajski M, Harlander S, Frew IJ Abstract One of the earliest requirements for the formation of a solid tumor is the establishment of an adequate blood supply. Clear cell renal cell carcinomas (ccRCC) are highly vascularized tumors in which the earliest genetic event is most commonly the biallelic inactivation of the VHL tumor suppressor gene, leading to constitutive activation of the HIF-1α and HIF-2α transcrip...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Abstract: Nephrogenic diabetes insipidus (NDI) is a condition resulting from the kidney's impaired response to circulating antidiuretic hormone (ADH), leading to polydipsia and polyuria. Urinary tract dilatation caused by NDI is a rare situation. Here, we report a case of congenital NDI presented with bilateral hydronephrosis. A 15-year-old boy complaining a history of intermittent fever was admitted to Peking Union Medical College Hospital. He voided 10 to 15 L of urine daily. Radiographic examination revealed severe dilatation of bilateral renal pelvis, ureter, and bladder. Urinalysis shows hyposthenuria. He was diag...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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