SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.

RATIONALE: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred syndrome is a common cause of syndromic deafness, but the metabolic abnormalities it causes are often overlooked. Here, we report the case of a patient diagnosed with Pendred syndrome with hypokalemia. PATIENT CONCERNS: A 53-year-old deaf-mute woman was hospitalized due to severe limb asthenia. The emergency examination showed that her blood potassium level was 1.8 mmol/L. DIAGNOSES: Through the genetic test, we found a mutation of SLC26A4 gene in NM_000441: c.2027T>A, p.L676Q, as well as the SLC26A4 exon 5-6 deletion. These genetic variations pointed to Pendred syndrome (an autosomal recessive disorder that mainly affects the inner ear, thyroid, and kidney) which is a common cause of syndromic deafness. INTERVENTIONS: The patient was treated with potassium supplements and screened for the cause of hypokalemia. OUTCOMES: The patient was discharged after her potassium levels rose to the normal range. LESSONS: Patients with Pendred syndrome may also have certain metabolic abnormalities; thus, more attention should be paid to them during clinical diagnosis.

Isobavachalcone ameliorates diabetic nephropathy in rats by inhibiting the NF-κB pathway.

Isobavachalcone (ISO) exhibits good anti-inflammatory activity. We evaluated the renoprotective effects of ISO against diabetic nephropathy (DN). Diabetic rats established by the single injection of streptozotocin (STZ) were orally treated with ISO. The levels of serum creatinine (Scr), blood urea nitrogen (BUN), and 24 hr urinary protein were measured. In this study, ISO effectively ameliorated renal damage by reducing BUN, Scr, and 24 hr urinary protein and also improved kidney pathological appearances. ISO prevented STZ-caused apoptosis in the glomerular tissue in vivo and blocked the high glucose (HG)-induced growth inhibitory effect in human renal glomerular endothelial cells in vitro. Moreover, ISO reduced pro-inflammatory mediator production and blocked the NF-κB pathway in the damaged renal tissues and HG-treated HRGEC cells. Taken together, the results of this study indicate that ISO consumption might have significant beneficial effects on the DN and this action might be correlated with the modulation of the NF-κB pathway. PRACTICAL APPLICATIONS: ISO is an active compound from the dried ripe fruit of Psoralea corylifolia L. seed, which is traditionally served as a food ingredient in Asia. In this investigation, we observed the beneficial effects of ISO on a murine model with DN. Further research revealed that the protective action of ISO might be connected with its weak hypoglycaemic and notable anti-inflammatory effects. Our research data suggest that ISO-enriched food might be a good choice for people suffering from DN.

Primary hyperparathyroidism in a woman with multiple tumors: A case report.

BACKGROUND: Parathyroid adenoma (PTA) is known as an adenomatous hyperparathyroidism syndrome. At earlier times, the major symptoms of this disease included high blood calcium and low phosphorus. PTA is a benign neuroendocrine neoplasm. We have reviewed the literature and found that it is rare for patients with hyperparathyroidism to have benign tumors with multiple organs at the same time. This report describes a patient with a PTA and four nonfunctional adenomas. CASE SUMMARY: We report a case of primary hyperparathyroidism in a 39-year-old woman with multiple organ tumors. The patient was admitted to hospital because of hypercalcemia. Laboratory, imaging, and histological examinations confirmed a left parathyroid neoplasm. Right thyroid adenoma was discovered during hospitalization. She had a medical history of uterine fibroids, right benign mammary gland tumor, and meningioma. The patient recovered after surgical and conservative treatments. CONCLUSION: Primary hyperparathyroidism with multiple organ tumors is uncommon, and further studies should be conducted to determine if there is genetic heterogeneity.

Association of platelet glycoprotein receptor alpha2beta1 integrin and glycoprotein IIIa gene polymorphisms with diabetic retinopathy: evidence from 3007 subjects.

PURPOSE: Many epidemiological studies have evaluated associations of platelet glycoprotein receptor alpha2beta1 integrin (ITGA2) and glycoprotein IIIa (ITGB3) gene polymorphisms with diabetic retinopathy (DR), but the published data are inconclusive. The aim of the present study was to assess the associations by using meta-analysis. METHODS: A comprehensive electronic search (PubMed, EMBASE, Elsevier Science Direct, CNKI and Wanfang) was carried out until 31 August 2013. Odds ratios (ORs) and its 95% confidence intervals (CIs) were used to assess the strength of the associations. RESULTS: Nine studies including 1678 cases and 1329 controls were included in the meta-analysis. Meta-analysis was performed for ITGA2 gene BgI II polymorphism (7 studies including 758 cases and 570 controls) and ITGB3 gene PlA1/A2 polymorphism (4 studies including 1047 cases and 861 controls). Significant associations were found for BgI II (+ versus -: OR = 1.42, 95% CI = 1.06-1.90, p = 0.02; +/- + +/+ versus -/-: OR = 1.46, 95% CI = 0.99-2.15, p = 0.06; +/+ versus -/- + +/-: OR = 1.90, 95% CI = 1.35-2.67, p = 0.0003) and PlA1/A2 (A2 versus A1: OR = 0.74, 95% CI = 0.52-1.07, p = 0.11; A1A2 + A2A2 versus A1A1: OR = 0.80, 95% CI = 0.64-0.99, p = 0.04; A2A2 versus A1A1 + A1A2: OR = 0.45, 95% CI = 0.27-0.75, p = 0.002) polymorphisms. CONCLUSION: This meta-analysis demonstrates that DR is associated with ITGA2 BgI II and ITGB3 PlA1/A2 polymorphisms.