Diverse phenotypes in children with PAX2 ‐related disorder

ConclusionWe firstly reported skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and congenital ventricular septal defect as new phenotypes ofPAX2‐related disorder which enlarged the phenotypic spectrum. Gout was firstly reported as the onset symptom ofPAX2‐related disorder. The diagnosis ofPAX2‐related disorder should be considered without family history due to a much higher percentage ofDe novo mutations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Although mild acute kidney injury (AKI) commonly encountered in clinical practice may resolve completely, it is increasingly apparent from human and animal data that more severe AKI often progresses to chronic kidney disease (CKD).1 After kidney injury, tubular epithelial cells (TECs) are primarily responsible for regeneration and repair by proliferating, de-differentiating, migrating, and redifferentiating.2 Depending on the extent of injury, additional repair may occur through fibrosis, the replacement of nonviable kidney tissue by the extracellular matrix.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Nephrology Digest Source Type: research
Conclusions: This retrospective cohort study demonstrates that both ESRD and CKD patients have worse outcomes compared to patients with no kidney disease after HA for FNF. Level of Evidence: Prognostic Level III. See instructions for authors for a complete description of levels of evidence.
Source: Journal of Orthopaedic Trauma - Category: Orthopaedics Tags: Original Article Source Type: research
Conditions:   Chronic Kidney Diseases;   Blood Pressure;   Hyperemia;   Vasoconstriction Interventions:   Drug: Curcumin;   Other: Placebo Sponsor:   Nicholas Kruse Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Myocardial injury after noncardiac surgery (MINS) is prognostically relevant myocardial injury due to ischemia that occurs during or within 30  days after noncardiac surgery and is known to be independently associated with 30-day mortality after intervention. Nonetheless, the long-term prognostic importance of MINS in vascular surgery patients is poorly described, and the prevalence of MINS in endovascular aneurysm repair (EVAR) patients is unknown. Also, most studies use fourth-generation troponin T, which can have significant baseline increases in chronic kidney disease patients.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
The incidence of chronic kidney disease (CKD) has reached pandemic proportions across the world. Critical limb ischemia (CLI) in the CKD patient is a huge clinical challenge often culminating in major amputation or mortality. Endovascular revascularization is sometimes not feasible because of potential contrast agent-induced damage to the residual renal function, whereas heavy calcification may limit the success of such interventions. Surgical revascularization in these patients also carries added challenges and risks with seemingly poor outcomes in terms of limb salvage.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
This study simulated the high-phosphorus (Pi) environment in patients with chronic kidney disease. Nano-hydroxyapatite (HAP) crystals were used to damage rat aortic smooth muscle cells (A7R5) pre-damaged with different concentrations of Pi solution to compare the differences in HAP-induced calcification in A7R5 cells before and after injury by high-Pi condition. After the A7R5 cells were damaged by high-Pi environment, the following were observed. HAP resulted in declined cell viability and lysosomal integrity, release of lactate dehydrogenase, and increased reactive oxygen species production. The ability of high-Pi damage...
Source: Materials Science and Engineering: C - Category: Materials Science Source Type: research
AbstractObjectiveTo investigate the relationship between emotion sharing and technically troubled dialysis (TTD) in a remote patient monitoring (RPM) setting.Materials and MethodsA custom software system was developed for home hemodialysis patients to use in an RPM setting, with focus on emoticon sharing and sentiment analysis of patients ’ text data. We analyzed the outcome of emoticon and sentiment against TTD. Logistic regression was used to assess the relationship between patients’ emotions (emoticon and sentiment) and TTD.ResultsUsage data were collected from January 1, 2015 to June 1, 2018 from 156 patien...
Source: Journal of the American Medical Informatics Association - Category: Information Technology Source Type: research
This study was designed to evaluate the efficacy and safety of apatinib, a novel tyrosine kinase inhibitor targeting tumor angiogenesis, as second-line treatment in recurrent or advanced cervical cancer patients. Twenty patients who failed cisplatin/paclitaxel ± bevacizumab treatment received a 4-week cycle of apatinib, with a daily dosage of 500 mg or 250 mg. The follow-up period ranged from 5.9 to 21.3 months (median, 14.0 months). None of the patients achieved a complete response (CR). Nevertheless, a partial response (PR), stable disease (SD) an d progressive disease (PD) were observed i...
Source: Investigational New Drugs - Category: Drugs & Pharmacology Source Type: research
AbstractBackgroundIt has been reported that 20% of lung cancer patients have renal impairment caused by chronic kidney disease (CKD). Since docetaxel is predominantly excreted by the hepatobiliary system, it is administered to non ‐small cell lung cancer (NSCLC) patients with renal impairment. However, few clinical data are available on the toxicity and efficacy of docetaxel for patients with nondialysis renal impairment. Furthermore, some cases of tubular nephrotoxicity caused by docetaxel in NSCLC patients have been repor ted. Therefore, a retrospective cohort study was conducted to assess the influence of nondialysis ...
Source: Thoracic Cancer - Category: Cancer & Oncology Authors: Tags: ORIGINAL ARTICLE Source Type: research
CONCLUSION: Collectively, our results suggest that HIF-1α participates in the inflammatory response process caused by Ang II and that downregulation of HIF-1α may be able to partially protect or reverse inflammatory injury in podocytes. PMID: 31623681 [PubMed - in process]
Source: BMC Pharmacology and Toxicology - Category: Drugs & Pharmacology Tags: BMC Pharmacol Toxicol Source Type: research
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