Association of genetic variants in the adiponectin encoding gene (ADIPOQ) with type 2 diabetes in Japanese Brazilians

AimThe objective of this study is to assess the contribution of ADIPOQ variants to type 2 diabetes in Japanese Brazilians.MethodsWe genotyped 200 patients with diabetes mellitus (100 male and 100 female, aged 55.0 years [47.5–64.0 years]) and 200 control subjects with normal glucose tolerant (NGT) (72 male and 128 female, aged 52.0 years [43.5–64.5 years]).ResultsWhereas each polymorphism studied (T45G, G276T, and A349G) was not significantly associated with type 2 diabetes mellitus, the haplotype GGA was overrepresented in our diabetic population (9.3% against 3.1% in NGT individuals, P=.0003). Also, this haplotype was associated with decreased levels of adiponectin. We also identified three mutations in exon 3: I164T, R221S, and H241P, but, owing to the low frequencies of them, associations with type 2 diabetes could not be evaluated. The subjects carrying the R221S mutation had plasma adiponectin levels lower than those without the mutation (2.10 μg/ml [1.35–2.55 μg/ml] vs. 6.68 μg/ml [3.90–11.23 μg/ml], P=.015). Similarly, the I164T mutation carriers had mean plasma adiponectin levels lower than those noncarriers (3.73 μg/ml [3.10–4.35 μg/ml] vs. 6.68 μg/ml [3.90–11.23 μg/ml]), but this difference was not significant (P=.17).ConclusionsWe identified in the ADIPOQ gene a risk haplotype for type 2 diabetes in the Japanese Brazilian population.     

Evaluation of oral antiseptic rinsing before sputum collection to reduce contamination of mycobacterial cultures

To assess whether rinsing with oral antiseptics before sputum collection would reduce contamination of mycobacterial cultures, 120 patients with suspected tuberculosis were randomly assigned to rinse with chlorhexidine or cetylpyridinium mouthwash before collection. The culture contamination rate was significantly lower after rinsing with chlorhexidine before collection, especially for cultures grown in MGIT medium.     

Acute thrombosis of mechanical mitral valve prosthesis successfully treated with thrombolysis

A 61-year-old female patient using a mechanical prosthesis for 11 years was admitted to the hospital with sudden dyspnea, pallor and atrial fibrillation. The diagnostic evaluation included transesophageal echocardiogram, which showed a significantly reduced motion of one of the leaflets of the mitral prosthesis and immobility of the other, in addition to a thickened structure compatible with a thrombus adherent to the valve. The patient was diagnosed with thrombosis of mechanical mitral valve prosthesis. Thrombolytic therapy (rtPA) was started successfully. The patient has been followed up for more than one year with a favorable outcome.     

Molecular lymph node staging in bladder urothelial carcinoma: impact on survival

Background

Routine histologic analysis of lymph nodes (LN) for detecting disseminated bladder urothelial carcinoma (BUC) lacks sensitivity.

Objective

To identify and test potential mRNA markers of BUC dissemination in LN that has been missed by histological analysis, and to compare the performance of selected markers with patients’ clinical outcome.

Design, setting, and participants

Microarray data and a literature search were used to identify potential markers expressed in BUC but absent in LN. Five genes were finally selected to be studied by quantitative real-time RT-PCR (qRT-PCR) in 181 and 29 LN from 102 BUC patients and 29 controls, respectively, collected from 2002 to 2004 (median follow-up of 35 mo).

Measurements

The three most expressed genes plus two additional markers selected from the literature were finally evaluated by qRT-PCR. Gene expression values were statistically compared with histologic results and clinical outcome.

Results and limitations

A discriminant analysis showed that the combination of FXYD3 and KRT20 genes yielded a 100% sensitivity and specificity differentiating LN with BUC dissemination from controls. Combined, the expression of both genes allowed the identification of urothelial cells in LN in 20.5% of patients with previous histologically negative LN. These patients did not have a significantly worse survival than those who were negative by qRT-PCR.

Conclusions

Using molecular markers it was possible to improve the sensitivity of LN histologic analysis. However, since 20.5% of patients that reclassified as positive by qRT-PCR did not have a significantly worse survival, we assume lymphadenectomy was important to remove residual disease.