Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as responsible for aBS has resulted in new insights into renal salt handling, diuretic action and blood-pressure regulation. A gene locus of a fourth variant of aBS called BSND, which in contrast to the other forms is associated with sensorineural deafness (SND) and renal failure, has been mapped to chromosome 1p. We report here the identification by positional cloning, in a region not covered by the human genome sequencing projects, of a new gene, BSND, as the cause of BSND. We examined ten families with BSND and detected seven different mutations in BSND that probably result in loss of function. In accordance with the phenotype, BSND is expressed in the thin limb and the thick ascending limb of the loop of Henle in the kidney and in the dark cells of the inner ear. The gene encodes a hitherto unknown protein with two putative transmembrane alpha-helices and thus might function as a regulator for ion-transport proteins involved in aBS, or else as a new transporter or channel itself.

FINDRISK questionnaire combined with HbA1c testing as a potential screening strategy for undiagnosed diabetes in a healthy population.

Despite the efforts to control the epidemic of diabetes the total number of people living with diabetes is still steadily rising. In order to detect people at risk, cost-effective, convenient, and sensitive screening tools to assess the diabetes risk and to detect undiagnosed type 2 diabetes need to be developed and implemented in the primary care setting. To evaluate the combination of the well established FINDRISK questionnaire and HbA1c testing as a potential screening strategy the data obtained from 671 blood donors were analyzed for a potential correlation with the results of an oral glucose tolerance test. Based on the oral glucose tolerance test, 65 blood donors (9.7%) were newly diagnosed with diabetes, 336 (50.1%) with prediabetes, and 270 (40.2%) had a normal test result. Of the 401 blood donors diagnosed with prediabetes or diabetes 322 (80.3%) had a HbA1c between 5.7% and 6.4% and 27 (6.7%) with a HbA1c of 6.5% or greater. The majority of the blood donors newly diagnosed with diabetes or prediabetes (n=327) had a FINDRISK result of 12 points or higher. ROC analyses confirmed that the optimal cut off levels were for FINDRISK ≥ 12 points and for HbA1c ≥ 5.9%. Thus, a 3-step screening strategy applying the FINDRISK questionnaire followed by HbA1c testing and performing an oral glucose tolerance test on selected individuals could be a cost-saving approach for screening large populations and identifying people at risk for diabetes or undiagnosed diabetes.

[The BSD Health Study: a pilot study to examine the comparability of Bavarian blood donors with the Bavarian general population by a comparison with KORA S4]. / Die BSD Gesundheitsstudie: eine Pilotstudie zur Untersuchung der Vergleichbarkeit bayerischer Blutspender mit der Allgemein-bevölkerung Bayerns durch einen Vergleich mit KORA S4.

AIM: The aim of this pilot study was to compare the health status of Bavarian blood donors to the general population in Bavaria (Southern Germany). METHODS: Blood donors in Bavaria were evaluated with respect to socio-demographic characteristics, smoking status and selected diseases. The subset of blood donors from rural areas and aged 35-74 years (n=1 187), was compared to participants in the population-based survey KORA S4 living in rural areas near Augsburg (n=1 870). The comparison was based on logistic regression models adjusted for age and sex. RESULTS: Bavarian blood donors lived significantly more often in communities with less than 20 000 inhabitants (OR=4.73, KI: 3.69-6.13). They were more often born in Germany (OR=2.71, KI: 2.12-3.50) and had less university degrees (OR=0.60, KI: 0.44-0.81). Never smoking is more common in blood donors (OR=1.53, 95% KI: (1.30; 1.80)). The prevalence of asthma, myocardial infarction (HI) and cancer (men only) is significantly lower in blood donors compared to the general population both living in rural areas (OR (Asthma)=0.32, 95% KI: (0.20; 0.52); OR (HI)=0.17, 95% KI: (0.08; 0.34)). The initially significantly lower number of cancer cases in male blood donors disappeared after adjustment for smoking status and community size. No difference was detected for type 2 diabetes. CONCLUSION: With the exception of type 2 dia-betes, the prevalence of the investigated diseases was lower in blood donors than in the general population. Differences can probably be explained by lifestyle factors as there might be a selection of healthier and more health-conscious blood donors. In the literature, a reduced risk of MI is discussed to be related to the frequency of blood donation. However, these questions need further research.

[Cellular content of mixed saliva sediment in patients with chronic mucosal inflammation]. / Kletochnyi sostav osadka smeshannoi sliuny u patsientov s khronicheskimi vospalitel'nymi protsessami na slizistykh obolochkakh.

A comparative analysis was made of the saliva sediment cell composition in healthy patients and patients with chronic mucosal inflammation. Migration of leucocytes to the oral cavity was registered in patients with chronic inflammatory processes. A reliable increase in the number of epithelial cells with high degree of destruction was determined in saliva in addition to the appearance of cubic epithelial cells. These results indicate certain violation of epithelial reparation. It is proposed to use a quantitative analysis of saliva sediment for estimating functional conditions of mucosa.