Keratin-based Nanofibres

Non

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients

Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Results: Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed. Conclusions: Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients. \ua9 2016 Published by the BMJ Publishing Group Limited

From DYMUS to DYPARK: validation of a screening questionnaire for dysphagia in Parkinson's disease

Dysphagia is a common debilitating symptom in people with Parkinson's Disease (PD), adequate screening of swallowing disorders is fundamental. The DYMUS questionnaire has shown very good characteristics for the screening of dysphagia in Multiple Sclerosis, and it might also prove useful for screening dysphagia in PD. The primary aim was to test and validate the DYMUS questionnaire in PD patients. This is an observational multicentric study involving 103 patients affected by PD. All subjects filled in the DYMUS and the Eating Assessment Tool (EAT-10) questionnaires. A subgroup of patients (n = 53) underwent a fiber-optic endoscopic evaluation of swallowing (FEES) and their dysphagia was scored by means of the Dysphagia Outcome Severity Scale (DOSS). DYMUS showed a relatively high level of internal consistency (Cronbach's alpha 0.79). A significant positive correlation was found between the DYMUS and the EAT-10 scores (p < 0.001), while a negative correlation was found between the DYMUS and the DOSS scores (p < 0.001). DYMUS showed a good sensitivity and specificity compared to FEES for detecting dysphagia (area under the curve: 0.82, p < 0.001). The ROC curve analysis showed that a DYMUS score >= 6 represents a reliable cut-off for the risk of dysphagia. The DYMUS questionnaire proved to be a reliable screening tool to detect dysphagia in patients suffering from PD. It is easy to understand, it can be self-administered and therefore adequate for adoption in the clinical practice with the more convenient name of DYPARK

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype-phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is alpha-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis

Xanthoproteic reaction for the evaluation of wool antifelting treatments

The substances responsible for the yellowing of wool treated with nitric acid are two amino acid constituents of the fibre: tryptophan and tyrosine. Nitric acid penetrates the fibres and carries out electrophilic aromatic substitution on the two above-mentioned amino acid residues, producing different colour yields. The intensity of yellowing depends in various ways on the treatment conditions (time, temperature, nitric acid concentration, agitation, and liquor ratio). Yellowing evaluation shows abnormal yellowing depending on acid concentration in the range 5.6-5.9 M. Working in this region makes it possible to use the chromatic reaction in order to show the damage done to wool fibres by the oxidising agents utilised in normal antifelting treatments. Wool damage by the oxidants is usually evaluated by dyeing methods based on different affinity of damaged fibres. By contrast, the xanthoproteic reaction yields chromogens as a function of the accessibility of tryptophan and tyrosine residues for the action of nitric acid on damaged fibres, and can be used for assessing the degree of antifelting treatment and its possible unevenness through the development on the treated wool of a yellow coloration more intense than on untreated woo

Outstanding traits and thermal behaviour for the identification of speciality animal fibres

The extra-fine, soft and warm fibres used by the textile industry for manufacturing high-quality, luxury textiles are obtained from the undercoat hair of several domestic mammals of the genera Capra, Bos, Camelus, and Lama. The demand for 'speciality fibres' by the fashion world represents an important opportunity for livelihoods, on condition that conservation of the wild species is preserved. Large scale trade of hair from wild goats hunted for meat or trophy and hybridisation of wild (Capra ibex) and domestic (Capra hircus) goats or wild Vicuna (Lama vicugna) and domestic Alpaca (Lama pacos), with the aim of improving fibre fineness and yield, would involve a risk of genetic pollution and would severely threaten conservation and biodiversity. This work describes fibre morphology and cell structure of fine fibres from the most important wild and domestic fibre producing species with the aim of enhancing traits for identification purposes. Microscopy investigation shows that exposure to thermal and nutritional stresses in the wild, lead to finer hair associated with lower rate of growth, yielding orientation and elongation of the cuticle cells. Differential scanning calorimetry reveals specie-specific differences in the internal structure of the fibre cortex, probably related to the process of hair keratinisation

Characterisation of keratin biomass from butchery and wool industry wastes

The chemical and structural characteristics of wool and horn-hoof were compared with the aim of better addressing possible exploitation of protein biomasses available as waste from textile industry and butchery. Amino acid analysis showed that wool has a higher amount of cystine and a lower amount of the amino acids that favour alpha-helix formation than horn-hoof. The difference in the alpha-helix content is confirmed by FTIR spectroscopy. Electrophoresis separation patterns showed two characteristic protein fractions related to low-sulphur proteins (between 60,000 and 45,000 Da) in wool, while different low-sulphur proteins are present in horn-hoof These data are partially confirmed by DSC analyses that showed different endothermic peaks at temperatures higher than 200 degrees C in the horn-hoof thermograms, probably due to denaturation of alpha-keratins at different molecular weights. Moreover. wool keratin was more hygroscopic and showed a higher extractability with reducing agents than horn-hoof On the basis of these results. waste wool is a more Suitable source than horn-hoof for uses involving protein extraction, but application can be envisaged also in surfactant foams for fire extinguishers and slow-release nitrogen fertilizer

Chapter 10. Fibroin Grafting Onto Wool Fibers: Recent Advances and Applications

During the process of silk manufacturing higher amounts of by-products are produced. These are mainly constituted by very short fiber wastes not useful for spinning that represent about 10% wt of spun yarn. These materials are highly homogeneous and have higher protein content (fibroin and sericin content about 94% wt), then they are suitable as source of significant amount of purified fibroin in form of powder, gel and film, useful as biopolymer for wound healing, cosmetic preparations, membranes supporting enzymes and so on. Another possible application not yet thoroughly studied can be the use of the recovered fibroin, after solubilization, as functional product for textile finishing. The aim of the present work was just to obtain bicomponent natural fibers by coating wool fibers with thin fibroin film. The finishing should be stable to washing hence much work was devoted to the search of a polyfunctional chemical reagent able to graft fibroin onto wool fibers without damaging the physical and chemical properties. To this purpose four epoxides (three bifunctional and a trifunctioctional ) were investigated. The finishing of wool with fibroin should confer to the final fabric innovative surface effects regarding shine and handfeel. Moreover, since the fibroin film should cover the scales of the wool surface responsible for felting, even an improvement of antifelting properties could be expected. The experiments were carried out on wool top as well as on fabric and the products were characterized by SEM and FTIR-ATR analyses. The better operating conditions to obtain fabrics with homogeneous fibroin coating on the wool fibers were determined