Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.

OBJECTIVE: We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature. METHODS: A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed. RESULTS: Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively. CONCLUSIONS: There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.

How Much Dialogic Coordination Practices Matter to Healthcare Professionals-A Delphi Approach towards a Tool for Identification and Measurement.

The study of coordination practices in health policy is a central aspect. The need for further research has been recently highlighted because of COVID-19. In this sense, dialogic practices (DP) have been identified but not validated yet. The purpose of this study is to develop and validate a DP questionnaire for healthcare teams. Items were identified based on a literature review, and the content validation was carried out by means of a Delphi study. A total of 10 experts assessed the clarity and appropriateness of the items and their corresponding measurement scales. After two rounds, a high level of consensus was reached, with agreement of 90% or higher on all items, and a high degree of stability and concordance in the results. This study resulted in a questionnaire consisting of four items, one for each identified DP initially proposed to the experts, as no other practices were revealed. From a practical perspective, the validation of these items constitutes a methodological innovation that responds to the call in the literature to open new avenues for comparative studies, and the possibility of generalising the findings and bringing together different approaches to the problem of coordination, which is key in health policy where unforeseen situations emerge.

Experimental Analysis and Application of a Multivariable Regression Technique to Define the Optimal Drilling Conditions for Carbon Fiber Reinforced Polymer (CFRP) Composites.

Carbon fiber reinforced polymers (CFRPs) are interesting materials due to their excellent properties, such as their high strength-to-weight ratio, low thermal expansion, and high fatigue resistance. However, to meet the requirements for their assembly, the drilling processes involved should be optimized. Defects such as delamination, dimensional errors and poor internal surface finish can lead to the premature failure of parts when bolt-joined or rivet-connected. In addition, the characteristic anisotropy and heterogeneity of these materials, and the issues related to the temperature reached during drilling, make it difficult to obtain optimal cutting parameters or to achieve high material removal rates. This research focuses on the optimization of the CFRPs drilling process by means of experimental analysis-varying the feed and spindle speed-for two different types of commercial drills-a twist tool and a dagger tool. An automatic image processing methodology was developed for the evaluation of the dimensional accuracy and delamination of the holes. The optimization was carried out using a multi-objective regression technique based on the dimensional deviations, delamination and surface finish. The areas with favorable machining conditions have been delimited for both tools and the results indicate that the twist tool allows one to achieve more productive cutting conditions than the dagger tool, when the combination of low feeds and high spindle speeds are the conditions to be avoided.

Neurophysiological study in cerebrotendinous xanthomatosis.

INTRODUCTION: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive disease due to mutations of the 27α-hydroxylase. It is characterized by cataracts, xanthomas, and neurological manifestations. Polyneuropathy has been reported, although it is unclear whether it is axonal or demyelinating. METHODS: We report clinical and neurophysiological results of 13 patients with CTX diagnosed in Spain. RESULTS: In 8 patients (62%), peripheral neuropathy was demonstrated (4 demyelinating, 3 axonal, and 1 mixed; 3 predominantly motor and 5 sensorimotor). All patients had clinical signs/symptoms of peripheral neuropathy. Upper limb somatosensory evoked potentials (SSEPs) were affected in 38% of patients, and lower limb SSEPs in 67%. Fifty percent of patients had delayed brainstem auditory evoked potentials, and 43% had affected visual evoked potentials. DISCUSSION: In this series, polyneuropathy was predominantly sensorimotor and demyelinating. Neurophysiological studies correlated only partially with clinical follow-up. Therefore, we recommend neurophysiological follow-up studies only if clinical symptoms are present.

Ecstasy (MDMA): A rebellion coherent with the system.

Aim: This study attempts to demonstrate the relevance of the socio-cultural model of drugs in explaining the impressive development of ecstasy in the last 45 years. Method: First the study describes the use of ecstasy by groups which have left their imprint on the substance: university students, gays, yuppies and the "New Age" movement. Then the link between ecstasy and techno music led to the socially integrated "club" phenomenon, and the "rave", which began as a rupturing, nonconformist phenomenon. Findings: According to this argument, in spite of its clearly counterculture beginnings, the "rave" movement and its most characteristic drug, ecstasy, have gradually become integrated into mainstream culture, somehow reinforcing the functioning of capitalist postmodernity. Our study explains ecstasy's history in reference to the cultural contradictions of capitalism and the functions that it currently fulfils for young people. Based on this analysis, the implications of the cultural perspective are discussed as a paradigm of research in drug use, stressing notions of subculture, myths and rituals. It also proposes a harmonious articulation of academic and common knowledge as the most appropriate method for their study. Conclusion: A cultural approach to drug use could assist in unblocking a field so in need of conceptual and empirical revision.

Características clínicas de pacientes con diagnóstico reciente de hepatitis B en Hospital Roosevelt / Clinical characteristics of patients with the recent diagnosis of hepatitis B at Roosevelt Hospital

Con el objetivo de establecer las principales características clínicas de los pacientes con diagnóstico reciente de hepatitis B, se realizó un estudio transversal en pacientes con antígeno de superficie positivo que requirieron ingreso al Hospital Roosevelt del 1 de enero del 2001 al 30 de junio del 2003. Se analizaron 52 pacientes que visitaron los diferentes servicios del Hospital Roosevelt. El 75/100 fueron del sexo masculino y el 25/100 del sexo femenino. El paciente de menor edad fue de 16 años y de 74 años el de mayor edad. Al momento del diagnóstico la ictericia se presentó en el 96.2/100 de los casos, seguido de náuseas en 88.5/100 pérdida del apetito...