Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

High-resolution monitoring of biogeochemical gradients in a tar oil-contaminated aquifer.

The detailed understanding of in situ biodegradation of petroleum hydrocarbons in porous aquifers requires knowledge on biogeochemical gradients, the distribution of individual redox species and microorganisms. The generally limited spatial resolution of conventional monitoring wells, however, hampers appropriate characterization of small-scale gradients and thus localization of the relevant processes. Groundwater sampling across a BTEX plume in a sandy aquifer by means of a novel high-resolution multi-level well (HR-MLW) is presented here. The presence of distinct and steep biogeochemical gradients is demonstrated in the centimeter and decimeter scale, which could not be resolved with a conventional multi-level well. The thin BTEX plume with a vertical extension of only 80 cm exhibited a decline of contaminant concentrations by two orders of magnitude within a few centimeters in the upper and lower fringe zone. The small-scale distribution of sulfate, sulfide and Fe(II) in relation to the contaminants and elevated ?34S and ?18O values of groundwater sulfate strongly indicated sulfate and iron reduction to be the dominant redox processes involved in biodegradation. High microbial activities and biomass especially at the plume fringes and the slope of chemical gradients supported the concept that the latter are regulated by microbial processes and transverse dispersion, i.e. vertical mixing of electron donors and acceptors. Transverse dispersion therefore was suggested to be a driving factor controlling biodegradation in porous aquifers, but not exclusively limiting natural attenuation processes at this site. Broad overlapping zones of electron donors and electron acceptors point towards additional factors limiting anaerobic biodegradation in situ. The identification of small-scale gradients substantially contributed to a better understanding of biodegradation processes and hence is a prerequisite for the development of reliable predictive mathematical models and future remediation strategies

Spatial distributions of sulphur species and sulphate-reducing bacteria provide insights into sulphur redox cycling and biodegradation hot-spots in a hydrocarbon-contaminated aquifer.

Dissimilatory sulphate reduction (DSR) has been proven to be one of the most relevant redox reactions in the biodegradation of contaminants in groundwater. However, the possible role of sulphur species of intermediate oxidation state, as well as the role of potential re-oxidative sulphur cycling in biodegradation particularly at the groundwater table are still poorly understood. Here we used a combination of stable isotope measurements of SO42−, H2S, and S0 as well as geochemical profiling of sulphur intermediates with special emphasis on SO32−, S2O32−, and S0 to unravel possible sulphur cycling in the biodegradation of aromatics in a hydrocarbon-contaminated porous aquifer. By linking these results to the quantification of total bacterial rRNA genes and respiratory genes of sulphate reducers, as well as pyrotag sequencing of bacterial communities over depth, light is shed on possible key-organisms involved. Our results substantiate the role of DSR in biodegradation of hydrocarbons (mainly toluene) in the highly active plume fringes above and beneath the plume core. In both zones the concentration of sulphur intermediates (S0, SO32− and S2O32−) was almost twice that of other sampling-depths, indicating intense sulphur redox cycling. The dual isotopic fingerprint of oxygen and sulphur in dissolved sulphate suggested a re-oxidation of reduced sulphur compounds to sulphate especially at the upper fringe zone. An isotopic shift in δ34S of S0 of nearly +4‰ compared to the δ34S values of H2S from the same depth linked to a high abundance (∼10%) of sequence reads related to Sulphuricurvum spp. (Epsilonproteobacteria) in the same depth were indicative of intensive oxidation of S0 to sulphate in this zone. At the lower plume fringe S0 constituted the main inorganic sulphur species, possibly formed by abiotic re-oxidation of H2S with Fe(III)oxides subsequent to sulphate reduction. These results provide first insights into intense sulphur redox cycling in a hydrocarbon contaminant plume, which widens the perspective of redox processes and microbial interactions ongoing in contaminated aquifers