Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Genetic transmissible spongiform encephalopathy (TSE) diseases are always associated with one of the more than 50 disease-associated point or insert mutations of the PrP gene (PRNP) [12] and represent approximately 10 to 20% of all forms of TSE diseases [9]. Each mutation is often associated with specific clinic-pathological phenotype [12] that are generally represented by Creutzfeldt-Jakob disease (CJD) [3, 8], Gerstmann–Sträussler–Scheinker disease or inherited prion protein cerebral amyloidoses [5], and fatal familial insomnia [4]. The methionine/valine polymorphism at codon 129 of PRNP plays also a role in determining the disease phenotype, especially when co-segregates with the pathogenic mutation [3]. Most PRNP mutations responsible for the CJD phenotype, including the R208H, are extremely rare and often there is no evidence of CJD in other family members. In particular, the R208H mutation co-segregates either with methionine or valine at codon 129 and it has been fully described in only 12 patients carrying M129 and 4 patients with V129 [8]. Here, we report clinical and neuropathological details of the fourth worldwide case of CJD carrying the rare R208H-129 Val PRNP genotype with a suggestive positive family history for dementia

Composition of dissolved organic matter within a lacustrine environment

Freshwater dissolved organic matter (DOM) is a complex mixture of chemical components that are central to many environmental processes, including carbon and nitrogen cycling. However, questions remain as to its chemical characteristics, sources and transformation mechanisms. Here, we employ 1- and 2-D nuclear magnetic resonance (NMR) spectroscopy to investigate the structural components of lacustrine DOM from Ireland, and how it varies within a lake system, as well as to assess potential sources. Major components found, such as carboxyl-rich alicyclic molecules (CRAM) are consistent with those recently identified in marine and freshwater DOM. Lignin-type markers and protein/peptides were identified and vary spatially. Phenylalanine was detected in lake areas influenced by agriculture, whereas it is not detectable where zebra mussels are prominent. The presence of peptidoglycan, lipoproteins, large polymeric carbo- hydrates and proteinaceous material supports the substantial contribution of material derived from microorganisms. Evidence is provided that peptidoglycan and silicate species may in part originate from soil microbes

A 49-year-old man with neuropsychiatric symptoms followed by progressive cognitive decline.

No abstract is available for this article

Project. 2014 Guidelines of Ukrainian Association of Cardiologists, Ukrainian Association of Endocrine Surgeons, Association of Nephrologists of Ukraine on Differential Diagnosis of Arterial Hypertension

The article presents recommendations on the differential diagnosis of hypertension. Recommendations prepared by the working group on hypertension of the Ukrainian Association of cardiology with the participation of  nephrologists and endocrinologists

Estimation of the conduction velocity of sympathetic sudomotor c fibers in healthy subjects: study of sympathetic skin reflex

The aim of this study was to establish a simple method for estimating the conduction velocity (CV) of postganglionic sympathetic sudomotor C fibres (SSFCV) in the upper and lower limbs by simultaneously measuring, the sympathetic skin reflex (SSR) in two distant sites. Fifty healthy volunteers were studied. SSRs were recorded with standard surface electrodes applied to both proximal (axilla and crural line) and distal sites for each limb (hand and foot). The CV of the efferent branch of the SSR was calculated by dividing the difference in the latencies of the response from two recording sites by the distance between the sites (axilla-hand for upper limb; crural line-foot for lower limb). Day-to-day reproducibility and intra-individual variability of the SSFCV were calculated. For the upper limbs, the SSFCV in the axilla-hand tract was 2.0 +/-0.3 m/sec (range 1.6-2.4 m/sec). For the lower limb, the SSFCV in the crural line-foot tract was 1.4 +/-0.4 m/sec (range 1.2-1.6 m/sec). Mean intra-individual variability of the SSFCV for the upper and lower limbs was 0.11 and 0.09, respectively. The coefficient of variation of the SSFCV for the upper and lower limbs was 5.1% and 5.4%, respectively. Our data show that this simple and non-invasive method can reliably be used to measure the CV of the sympathetic sudomotor fibres, in suitable temperature conditions, and may be useful when investigating the physiological functions of peripheral nerves in patients with peripheral neuropathies