Echocardiographic appearance of ruptured aortic cusp

Serial echocardiograms of a patient with enterococcal endocarditis and aortic insufficiency suggested the presence of vegetations on the aortic valve with progression of the lesion to frank prolapse of an aortic valve cusp. At surgery, the patient was found to have a flail noncoronary cusp to which an 8 mm vegetation was adherent. Anatomic correlations are presented, and a possible mechanism for the unusual echographic findings is discussed.     

Using Participatory Methods to Assess PrEP Interest and Uptake Among Young People Living in the Southeastern US: A Mixed Methods Assessment

AIDS and Behavior - Adolescents and young adults (AYA; 13–24 years-old) comprise 22% of new HIV infections in the United States (US), most of whom live in the South. We used the...     

Disruption of EXOC6B in a patient with developmental delay,epilepsy, and a de novo balanced t(2;8) translocation

Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the development of various next-generation sequencing techniques, fast and specific analyses of the breakpoint regions of chromosomal rearrangements are possible. Here, we report on a 19-year-old woman with a de novo balanced translocation t(2;8)(p13.2;q22.1) and a severe clinical phenotype including intellectual disability, epilepsy, behavioral features resembling autism, and minor dysmorphic features. By next-generation sequencing, we defined the breakpoints and found disruption of the exocyst complex component 6B (EXOC6B) gene in intron 1 on chromosome 2p13.2 involving two Alu elements with a homology of 81%. No gene was found at the respective breakpoint on chromosome 8. Expression analysis of the EXOC6B in blood lymphocytes and buccal smear revealed reduced expression in the patient in comparison with the control. Our findings in combination with one recently published case and one other patient listed in DECIPHER v5.1 indicate EXOC6B as a gene relevant for intellectual development and electrophysiological stability.     

Occurrence of Pneumocystis carinii DNA and anti-Pneumocystis antibodies in the sera of infants during a period of of physiologic decreased immune response

The polymerase chain reaction (PCR) and indirect immunofluorescent test (IF) were used for examination of serum samples obtained from infants with respiratory tract infections. Sixty (11.9%) out of the 503 examined infant samples were positive for anti-P. carinii IgM and 354 (70.4%) contained anti-Pneumocystis IgG. P. carinii DNA was found in 6 (6.7%) sera from 90 of infected infants. Five out these 6 samples were for anti-Pneumocystis antibodies positive; 4 contained both IgG and IgM classes and one had only IgG. The sixth sample had neither IgG nor IgM, despite of P. carinii DNA presence. The results of the studies indicated that for diagnosis Pneumocystis carinii pneumonia (PCP) in infants on serum specimens detection of antibodies by IF test is of greater value than Pneumocystis DNA amplification by PCR method.     

Serosurvey of pathogenic hantaviruses among forestry workers in Hungary

Objectives

The aim of the study was to survey the prevalence of human hantavirus infections among forestry workers, who are considered a risk population for contracting the disease. Sera collected from volunteers were tested for antibodies against Dobrava-Belgrade (DOBV) and Puumala (PUUV) viruses.

Material and Methods

For serological analyses, full capsid proteins of DOBV and PUUV viruses were produced in a bacterial expression system, while Ni-resin was used for protein purification. Samples were screened for anti-hantavirus antibodies by ELISA, results were confirmed by Western blot analysis.

Results

A total of 835 samples collected from 750 males and 85 females were tested by indirect ELISA and positive test results were confirmed by Western blot assay. Out of the 45 ELISA-reactive samples, 38 were confirmed by Western blot analysis. The regional distribution of seropositive individuals was as follows: 1.9% (2/107) in the Danube-Tisza Plateau (Great Plains), 3.1% (10/321) in the Southern Transdanubian region, 5.2% (13/248) in the Northern Transdanubian, and 8.2% (13/159) in the North Hungarian Mountains.

Conclusions

Our data show marked geographic differences in seroprevalence of pathogenic hantaviruses within Hungary, indicating elevated exposure to hantavirus infections in some areas.     

Positive and negative effects of glitazones in carcinogenesis: Experimental models vs. clinical practice

Diabetes increases cancer risk, which may be modulated by careful choice of treatment. Experimental reports showed efficacy of glitazones in various in vitro and in vivo models of carcinogenesis, but procarcinogenic effects in some models were reported too, and, similarly, data on cancer incidence in glitazone users are inconsistent. This review summarizes oncostatic effects of glitazones in preclinical and clinical studies and brings a brief summary of their impact on cancer risk in diabetic patients, with a focus on the association between pioglitazone use and bladder cancer.     

Cholesterol metabolism is affected by calcium phosphate supplementation in humans

Dietary calcium and phosphate precipitate in the small intestine to form insoluble amorphous calcium phosphate (ACP). The ability of ACP to bind and inactivate luminal bile acids might have an effect on cholesterol metabolism. To test this hypothesis, a placebo-controlled, double-blind, crossover study with pentacalcium hydroxy-triphosphate supplementation (CaP; 1.0 g elemental calcium) was conducted in 31 young healthy volunteers. The CaP was incorporated into bread. Serum cholesterol concentrations were lower after 4 wk of supplementation than after 4 wk of placebo (4.36 vs. 4.60 mmol/L; P = 0.008). Serum LDL cholesterol and the ratio of LDL:HDL cholesterol also tended to be lower after CaP supplementation than after placebo (-5.6%, P = 0.083 and -5.4%, P < 0.062, respectively). The participants' fat and cholesterol intakes and fecal fat excretion did not differ in the 2 periods. Although the analysis of fecal samples showed no difference in the excretion of total neutral sterols (sum of cholesterol and its transformation products), the excretion of cholesterol itself increased (9.64 vs. 5.80 micromol/g dry matter; P = 0.025; n = 25), whereas the excretion of the metabolite coprostanol decreased (18.5 vs. 21.0 mumol/g dry matter; P = 0.025; n = 25) in the CaP period. Bile acid excretion increased during the CaP period compared with the placebo period (25.4 vs. 22.9 micromol/g dry matter; P = 0.003). The observed beneficial effects on cholesterol metabolism are not the result of an increased excretion of cholesterol, but might be explained by an increased bile acid excretion and a subsequent regeneration of bile acids from endogenous cholesterol in the liver.