High numbers of Staphylococcus aureus at three bathing beaches in South Florida.

While the value of Staphylococcus aureus as an indicator for non-enteric diseases is unclear, understanding its prevalence in recreational beaches would prove useful, given its pathogenic potential. Staphylococcus aureus levels were evaluated in sand and seawater at three beaches during one year. To elucidate possible S. aureus sources or colonization trends, distribution in sand was analyzed at Hollywood Beach. Staphylococcus aureus levels fluctuated throughout the study with highest average densities detected in dry sand (3.46 × 105 CFU/g, Hobie Beach), particularly at beaches with high human density. Patchy distribution marked hotspots of human use and/or possible bacterial re-growth. Data from a brief epidemiological survey indicated a very slight association between beach usage and skin conditions; suggesting high S. aureus levels in sand may not necessarily constitute major health risks. Because the possibility of disease transmission exists, particularly to children and immuno-compromised beach-goers, periodic surveying of highly frequented beaches seems warranted.

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset stroke. Mutations in MFN2 account for up to 20-30% of all axonal CMT type 2 cases. To further investigate the prevalence of MFN2 mutations and to add to the genotypic spectrum, we sequenced all exons of MFN2 in a cohort of 39 CMT2 patients. We identified seven variants, four of which are novel. One previously described change was co-inherited with a PMP22 duplication, which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, which is a rare occurrence in the genotypic spectrum of MFN2 characterized mainly by missense mutations. Our results confirm a MFN2 mutation rate of ~15-20% in CMT2.

Genetic control of human brain transcript expression in Alzheimer disease.

We recently surveyed the relationship between the human brain transcriptome and genome in a series of neuropathologically normal postmortem samples. We have now analyzed additional samples with a confirmed pathologic diagnosis of late-onset Alzheimer disease (LOAD; final n = 188 controls, 176 cases). Nine percent of the cortical transcripts that we analyzed had expression profiles correlated with their genotypes in the combined cohort, and approximately 5% of transcripts had SNP-transcript relationships that could distinguish LOAD samples. Two of these transcripts have been previously implicated in LOAD candidate-gene SNP-expression screens. This study shows how the relationship between common inherited genetic variants and brain transcript expression can be used in the study of human brain disorders. We suggest that studying the transcriptome as a quantitative endo-phenotype has greater power for discovering risk SNPs influencing expression than the use of discrete diagnostic categories such as presence or absence of disease.

Prevalence and distribution of fecal indicator organisms in South Florida beach sand and preliminary assessment of health effects associated with beach sand exposure.

Fecal indicator levels in nearshore waters of South Florida are routinely monitored to assess microbial contamination at recreational beaches. However, samples of sand from the surf zone and upper beach are not monitored which is surprising since sand may accumulate and harbor fecal-derived organisms. This study examined the prevalence of fecal indicator organisms in tidally-affected beach sand and in upper beach sand and compared these counts to levels in the water. Since indicator organisms were statistically elevated in sand relative to water, the study also considered the potential health risks associated with beach use and exposure to sand. Fecal coliforms, Escherichia coli, enterococci, somatic coliphages, and F(+)-specific coliphages were enumerated from sand and water at three South Florida beaches (Ft. Lauderdale Beach, Hollywood Beach, and Hobie Beach) over a 2-year period. Bacteria were consistently more concentrated in 100g samples of beach sand (2-23 fold in wet sand and 30-460 fold in dry sand) compared to 100ml samples of water. Somatic coliphages were commonly recovered from both sand and water while F(+)-specific coliphages were less commonly detected. Seeding experiments revealed that a single specimen of gull feces significantly influenced enterococci levels in some 3.1m(2) of beach sand. Examination of beach sand on a micro-spatial scale demonstrated that the variation in enterococci density over short distances was considerable. Results of multiple linear regression analysis showed that the physical and chemical parameters monitored in this study could only minimally account for the variation observed in indicator densities. A pilot epidemiological study was conducted to examine whether the length of exposure to beach water and sand could be correlated with health risk. Logistic regression analysis results provided preliminary evidence that time spent in the wet sand and time spent in the water were associated with a dose-dependent increase in gastrointestinal illness.

Cortical and amygdalar Lewy body burden in Parkinson's disease patients with visual hallucinations.

Visual hallucinations (VH) are among the most common non-motor complications of Parkinson's disease (PD). A few studies on their etiopathogenesis have suggested involvement of cortical and amygdalar areas. In order to investigate the possible association between extranigral Lewy Body (LB) distribution across cortical and amygdalar regions and the presence of VH in PD brain donors, we conducted a clinico-pathological comparison of 10 PD patients with VH vs 10 closely matched PD patients without VH. The LB burden was significantly higher across the amygdala and the frontal, temporal and parietal cortical areas in patients with VH. Although our results suggest significant extranigral involvement, the precise etiopathologic mechanisms responsible for the development of VH need further clarification.