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Disinfection of hospital environments is a cornerstone of intervention strategies to reduce the risk of hospital-associated infections. Many studies show that standard cleaning procedures are not sufficient for proper disinfection of hospital environments and that the addition of no-touch technologies, such us ultraviolet light, can provide deeper sanitisation. This study aims to test whether the application of ultraviolet light after standard procedures improves hygiene levels in the shortest possible time and shows the degree of contamination before and after irradiation. A cross-sectional study was conducted in a real clinical setting in rehabilitation rooms of a contracted clinic "Rugani Hospital" in Monteriggioni (SI), Italy, between December 2019 and August 2020.the study was carried out according to the following protocol: i) quantization of contamination of 12 selected target points in room; ii) attribution to the points of a probability of contamination risk; iii) sampling of a subset of 6 points with probabilistic assignment; iv) evaluation of the pre-post disinfection environmental hygiene using a UV-C system. For the pre-post statistical analysis the non-parametric Wilcoxon test was used; the multivariate MANOVA was used to verify the role of different confounders, with post hoc Bonferroni test. Probabilistic calculations minimised the samplings required to conclude that the application of the ultraviolet light device reduced the level of contamination in a statistically significant manner (p < 0.01) when comparing pre- and post-exposure, with less irradiation time than indicated by the manufacturer.

Linkage analysis of the dominant distal myopathy we previously identified in a large Australian family demonstrated one significant linkage region located on chromosome 7 and encompassing 18.6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy. Sequencing of FLNC cDNA identified a c.752T>C (p.Met251Thr) mutation in the N-terminal actin-binding domain (ABD); this mutation segregated with the disease and was absent in 200 controls. We identified an Italian family with the same phenotype and found a c.577G>A (p.Ala193Thr) filamin C ABD mutation that segregated with the disease. Filamin C ABD mutations have not been described, although filamin A and filamin B ABD mutations cause multiple musculoskeletal disorders. The distal myopathy phenotype and muscle pathology in the two families differ from myofibrillar myopathies caused by filamin C rod and dimerization domain mutations because of the distinct involvement of hand muscles and lack of pathological protein aggregation. Thus, like the position of FLNA and B mutations, the position of the FLNC mutation determines disease phenotype. The two filamin C ABD mutations increase actin-binding affinity in a manner similar to filamin A and filamin B ABD mutations. Cell-culture expression of the c.752T>C (p.Met251)Thr mutant filamin C ABD demonstrated reduced nuclear localization as did mutant filamin A and filamin B ABDs. Expression of both filamin C ABD mutants as full-length proteins induced increased aggregation of filamin. We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations., (Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

We report a 36-year-old patient with 46XY pure gonadal dysgenesis (GD), who manifested a syndrome of progressive motor-sensory neuropathy. Sural nerve biopsy showed severe axonal neuropathy. Since reported cases of chronic motor-sensory neuropathy and pure gonadal dysgenesis have been characterized by nerve biopsy evidence of minifascicle formation, we suggest that this clinical association may be a new type of hereditary motor-sensory neuropathy, not necessarily associated with minifascicle formation.

We sequenced all mitochondrial tRNA genes from a patient with sporadic external ophthalmoplegia (PEO) and 5% COX-negative fibers in muscle biopsy, who had no detectable large mtDNA deletions. Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNA(Ser(UCN)) gene. RFLP analysis confirmed that 30% of muscle and 20% of urinary epithelium mtDNA harbored the mutation, which was absent in other tissues of the proband as well as in mtDNA of his mother and 100 patients with various encephalomyopathies. Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNA(Ser(UCN)).

Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.

We report the case of a 51-year-old woman with anosmia and chronic sensory ataxic neuropathy. Olfactory tests suggested neurosensory anosmia. Immunocytochemical analysis showed serum antibodies against dorsal root ganglion (DRG) cells and olfactory neurons, in the absence of other known causes of anosmia and sensory neuropathy. Clinical and laboratory data suggested a slow autoimmune process affecting dorsal root ganglion and olfactory cells.

Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle pain and walking impairment. Muscle biopsy showed rods and other typical findings suggesting nemaline myopathy. This myopathy should be taken into account in the differential diagnosis of adult onset myopathies. Only ultrastructural examination allows an exact diagnosis.

We describe the neuropathological findings in a 30-year-old man who died two months after attempting suicide with a shotgun. We focused our study on lesions associated with retained lead shot pellets and distant therefrom, as well as lesions distant from the principal site of injury. At the sites of the retained lead shot pellets, we found macrophage proliferation and astrocyte activation, together with axonal spheroids and signs of neuronal damage. In the remaining white matter we observed axonal swellings, astrocyte activation and rarefaction of the neuropil; regressive phenomena of the neurons were also present. All axonal spheroids immunoreacted with antibodies against APP, alphaB-crystallin, NF subunits and ubiquitin. Most reactive astrocytes were positive for GFAP and alphaB-crystallin immunostaining. Some neurons immunoreacting with alphaB-crystallin were also found. These data indicated that an important local reaction developed at the sites of lead shot retention, and mild signs of diffuse axonal damage were found throughout the brain.

Objective: To investigate morphological abnormalities in nerve and smooth muscle structures of the anorectal wall underlying gastrointestinal dysfunction in patients with systemic sclerosis (SSc)., Methods: We performed deep rectal biopsy in 3 patients with limited scleroderma of relatively recent onset and intestinal symptoms., Results: We found ultrastructural signs of axonal degeneration and cytoskeletal abnormalities in the bundles of unmyelinated fibers. There was also focal degeneration of smooth muscle cells, often in association with the presence of partially degranulated mast cells. Many mast cells were also observed in close relation to nerve fibers and vessels. The enteric vessels often showed basal lamina reduplication and hypertrophied endothelial cells with obliterated lumen. No significant fibrosis was found., Conclusion: Our findings indicate early involvement of the autonomic nervous system and to a lesser extent of smooth muscle cells. We confirmed the presence of early vascular lesions and involvement of mast cells in the pathological process.