Renal phenotype in Bardet-Biedl Syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.

Renal phenotype in Bardet-Biedl Syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion. Am J Physiol Renal Physiol. 2016 Aug 3;:ajprenal.00224.2016 Authors: Zacchia M, Zacchia E, Zona E, Capolongo G, Raiola I, Rinaldi L, Trepiccione F, Ingrosso D, Perna A, Di Iorio V, Simonelli F, Moe OW, Capasso G Abstract The renal phenotype in Bardet-Biedl syndrome (BBS) is highly variable. The present study describes renal findings in 41 BBS patients and analyzes the pathogenesis of hyposthenuria, the most common renal dysfunction. 5/41 patients (12%) showed an estimated glomerular filtration rate
Source: Am J Physiol Renal P... - Category: Urology & Nephrology Authors: Tags: Am J Physiol Renal Physiol Source Type: research

Related Links:

DISCUSSION:  VWF:Ag expression, a marker of endothelial ± platelet activation, is enhanced in recently symptomatic versus asymptomatic carotid stenosis patients, including in MES-ve patients, and decreases with ADAMTS13 activity over time following atherosclerotic TIA/ischemic stroke. PMID: 32932544 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: Thromb Haemost Source Type: research
Authors: James AH Abstract This is the obstetrician's view on 3 different clinical scenarios involving bleeding and thrombotic disorders. In the first scenario, an 18 year old with a history of heavy menstrual bleeding since menarche presents with abdominal pain and ultrasound findings suggestive of a hemorrhagic ovarian cyst. The association with an underlying bleeding disorder is recognized. The goals of management, which are controlling hemorrhage and preserving fertility, are stated. Ovarian suppression, the most effective method to prevent recurrent hemorrhagic ovarian cysts, is outlined. Long-term management ...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Multiple studies have shown that in approximately half of individuals with pulmonary embolism (PE), the deep venous thrombosis (DVT) is not evident at the moment of PE diagnosis. The underlying factors and the origin of PE in these patients are not completely understood: missed DVT, embolization of DVT in its entirety, or de-novo PE being possible explanations. The aim of this study was to evaluate the differences in PE patient with or without co-existing DVT. Sixty-three consecutive PE patients were included. Whole leg bilateral Doppler compression ultrasound was performed to all patients. The PE location and extension, C...
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
In this study, we report the age-associated differences between fetal MSC (fMSC) populations and MSCs isolated from elderly donors with respect to their transcriptomes. We successfully reprogrammed fMSCs (55 days post conception) and adult MSC (aMSC; 60-74 years) to iPSCs and, subsequently, generated the corresponding iMSCs. In addition, iMSCs were also derived from ESCs. The iMSCs were similar although not identical to primary MSCs. We unraveled a putative rejuvenation and aging gene expression signature. We show that iMSCs irrespective of donor age and cell type re-acquired a similar secretome to that of th...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
The third-generation tyrosine kinase inhibitor (TKI) ponatinib has been associated with high rates of acute ischemic events. The pathophysiology responsible for these events is unknown. We hypothesized that ponatinib produces an endothelial angiopathy involving excessive endothelial-associated von Willebrand factor (VWF) and secondary platelet adhesion. In wild-type mice and ApoE–/– mice on a Western diet, ultrasound molecular imaging of the thoracic aorta for VWF A1-domain and glycoprotein-Ibα was performed to quantify endothelial-associated VWF and platelet adhesion. After treatment of wild-type mice fo...
Source: Blood - Category: Hematology Authors: Tags: Myeloid Neoplasia, Platelets and Thrombopoiesis, Thrombosis and Hemostasis, Vascular Biology Source Type: research
Conclusions These results show that a decrease in the ability of 1399H VWF to bind collagen IV under static conditions corresponds to a decrease in binding under flow conditions, an increased bleeding time, and a prolonged time to thrombosis. This study supports the potential for a bleeding phenotype in patients with aberrant VWF-collagen IV binding. PMID: 30565388 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research
Conclusion: Our results may confirm the arrangement and severity of endothelial damage in preeclamptic patients and may have identified those patients with a significantly higher risk of developing cardiovascular disease.Gynecol Obstet Invest
Source: Gynecologic and Obstetric Investigation - Category: OBGYN Source Type: research
We examined the association between VWF levels and coronary plaque as assessed by intravascular ultrasound (IVUS) in CAD patients treated with statins. Ninety-one CAD patients who underwent percutaneous coronary intervention under IVUS guidance, and who were already receiving statin treatment based on Japanese guidelines, were included. An IVUS examination was performed for the culprit lesion, and plasma VWF antigen levels were measured using enzyme-linked immuno sorbent assay. In all of the patients, the low-density lipoprotein cholesterol levels just before the IVUS examination were low (86 ± 26 mg/dL). The VWF ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
The aim of this study was to evaluate a panel of endothelium-targeted microbubble (MB) ultrasound contrast agents bearing small peptide ligands as a human-ready approach for molecular imaging of markers of high-risk atherosclerotic plaque. Small peptide ligands with established affinity for human P-selectin, VCAM-1, LOX-1 and von Willebrand factor (VWF) were conjugated to the surface of lipid-stabilized MBs. Contrast-enhanced ultrasound (CEUS) molecular imaging of the thoracic aorta was performed in wild-type and gene-targeted mice with advanced atherosclerosis (DKO).
Source: Ultrasound in Medicine and Biology - Category: Radiology Authors: Tags: Original Contribution Source Type: research
Conclusions Large PVs exhibit thrombosis more frequently than HVs during MW ablation procedures. Biologic differences in thrombogenicity, rather than heat transfer, between PVs and HVs may contribute to their different rates of thrombosis.
Source: Journal of Vascular and Interventional Radiology - Category: Radiology Source Type: research
More News: Study | Ultrasound | Urology & Nephrology | von Willebrand Disease