LaCulturaNonSiFerma -- Report su uso e la diffusione degli hashtag delle istituzioni culturali italiane durante il periodo di lockdown

This report presents an analysis of #hashtags used by Italian Cultural Heritage institutions to promote and communicate cultural content during the COVID-19 lock-down period in Italy. Several activities to support and engage users' have been proposed using social media. Most of these activities present one or more #hashtags which help to aggregate content and create a community on specific topics. Results show that on one side Italian institutions have been very proactive in adapting to the pandemic scenario and on the other side users' reacted very positively increasing their participation in the proposed activities.Comment: in Italia

ItaGLAM: A corpus of Cultural Communication on Twitter during the Pandemic

This paper describes the compilation and annotation of ItaGLAM, a corpus of tweets written by Italian Galleries, Libreries, Archives and Museums (GLAMs) during the lockdown period in Italy due to the COVID-19 pandemic. ItaGLAM has been annotated with a set of labels which may be useful to identify different types of communication. Furthermore, the collected data have been used to train a set of classifiers.The results are analyzed to evaluate the information flow between GLAM and users and to analyze cultural communication on the Web

An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy.

Charcot-Marie Tooth type 2B (CMT2B) is a rare inherited peripheral neuropathy caused by five missense mutations in the RAB7A gene, which encodes a small GTPase of the RAB family. Currently, no cure is available for this disease. In this study, we approached the disease by comparing the lipid metabolism of CMT2B-derived fibroblasts to that of healthy controls. We found that CMT2B cells showed increased monounsaturated fatty acid level and increased expression of key enzymes of monounsaturated and polyunsaturated fatty acid synthesis. Moreover, in CMT2B cells a higher expression of acetyl-CoA carboxylase (ACC) and fatty acid synthase (FAS), key enzymes of de novo fatty acid synthesis, with a concomitantly increased [1-14C]acetate incorporation into fatty acids, was observed. The expression of diacylglycerol acyltransferase 2, a rate-limiting enzyme in triacylglycerol synthesis, as well as triacylglycerol levels were increased in CMT2B compared to control cells. In addition, as RAB7A controls lipid droplet breakdown and lipid droplet dynamics have been linked to diseases, we analyzed these organelles and showed that in CMT2B cells there is a strong accumulation of lipid droplets compared to control cells, thus reinforcing our data on abnormal lipid metabolism in CMT2B. Furthermore, we demonstrated that ACC and FAS expression levels changed upon RAB7 silencing or overexpression in HeLa cells, thus suggesting that metabolic modifications observed in CMT2B-derived fibroblasts can be, at least in part, related to RAB7 mutations

A Device to Quantify Sweat in Single Sweat Glands to Diagnose Neuropathy

We devised an objective "Sensitive Sweat Test" (SST) that detects and quantifies early changes in the function of sudomotor nerves that activate sweat glands (SGs). The SST is designed to diagnose peripheral neuropathy early, when the probability for reversal is greatest. Chemotherapy induced and diabetic neuropathy are very common causes of neuropathy in the USA. Both result in peripheral numbness, pain, decreased sweating, abnormal circulation, and eventual weakness. Early recognition can provide a better opportunity to treat and halt neuropathy than discovery after the onset of nerve degeneration. We contend that early diagnosis can be achieved by sensitive monitoring of sweating. Unfortunately, the changes that first signal impending sweat deficiency escape detection by conventional clinical examination and current tests We contracted with several MN small business concerns (SBCs) to construct the SST miniature camera device Methods Skin sites on the medial calf and foot dorsum, each measuring 2 cm 2 were stimulated to sweat maximally by iontophoresis of 1% pilocarpine (2 ma, 5 min; Transparent tape thinly coated with starch was attached over the lens of the SST miniature camera. The skin test sites were prepped with a 1% iodine solution. The skin was wiped dry and immediately the camera was pressed against the skin, activating a switch to begin image collection and storage. As sweat water exited from each sweat pore it contacted iodine and starch and formed a tiny dark spot. The tape prevented formation of a drop. Instead, sweat was forced to flow centrifugally to form a flat expanding dark spot. The SST device imaged spots from >200 SGs at 1 frame/sec (area of 2 cm 2 ) for 60 to 90 seconds, until adjacent spots coalesced. The process was performed twice. Image analysis was done in the Mathworks Software, MATLAB version R2012a. Each individual sweat spot was identified and followed from frame to fram

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.This investigation was supported by the Instituto de Salud Carlos III and the Fundacion Vasca de Innovacion e Investigacion Sanitarias (funds to ES)

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Aims SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the p.S331 residue of SPTLC1 cause a distinct phenotype, whose pathogenic basis has not been established. This study aims to define the neuropathological and biochemical consequences of the SPTLC1 p.S331 variant, and test response to l-serine in this specific genotype. Methods We report clinical and neurophysiological characterisation of two unrelated children carrying distinct p.S331 SPTLC1 variants. The neuropathology was investigated by analysis of sural nerve and skin innervation. To clarify the biochemical consequences of the p.S331 variant, we performed sphingolipidomic profiling of serum and skin fibroblasts. We also tested the effect of l-serine supplementation in skin fibroblasts of patients with p.S331 mutations. Results In both patients, we recognised an early onset phenotype with prevalent progressive motor neuron disease. Neuropathology showed severe damage to the sensory and autonomic systems. Sphingolipidomic analysis showed the coexistence of neurotoxic deoxy-sphingolipids with an excess of canonical products of the SPT enzyme. l-serine supplementation in patient fibroblasts reduced production of toxic 1-deoxysphingolipids but further increased the overproduction of sphingolipids. Conclusions Our findings suggest that p.S331 SPTLC1 variants lead to an overlap phenotype combining features of sensory and motor neuropathies, thus proposing a continuum in the spectrum of SPTLC1-related disorders. l-serine supplementation in these patients may be detrimental

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturbance. However, the associated genotypes and phenotypes are poorly characterized due to the small number of patients described. Here, we report clinical, instrumental, and genetic findings in an Italian family with novel PARK9 and PARK15 mutations. The proband developed a severe progressive phenotype including juvenile-onset parkinsonism, pyramidal disturbances, cognitive decline, and oculomotor abnormalities. On the contrary, his brother only shows mild abnormalities (pyramidal, cognitive, and oculomotor) on the neurological examination at the age of 31 years. These two brothers both carry a novel homozygous PARK9 missense (p.G877R) and a novel heterozygous PARK15 mutation (p.R481C). The PARK9 mutation replaces a crucial residue for the ATPase activity, and is therefore most likely a loss-of-function mutation and disease-causing in homozygous state. The pathogenic significance of the PARK15 single heterozygous mutation remains unclear. In both sibs, DaTSCAN single photon emission computed tomography showed marked nigrostriatal dopaminergic defects, and transcranial magnetic stimulation detected prolonged central motor conduction time. MRI, including T2*-weighted imaging, detected no evidence of brain iron accumulation. This family, the third reported with homozygous PARK9 mutations and the first with mutations in two genes for atypical juvenile parkinsonism, illustrates that PARK9-linked disease might display wide intra-familial clinical variability and milder phenotypes, suggesting the existence of strong, still unknown, modifiers