The role of specialist nurses in detecting spasticity and related symptoms in multiple sclerosis.

BACKGROUND: Spasticity is a frequent symptom of multiple sclerosis (MS), which may negatively influence daily living activities (ADL). OBJECTIVES: To (1) explore the feasibility to conduct a structured interview by specialist nurses about limitations in ADL; (2) determine the percentage of people with MS (PwMS) with limitations in ADL related to spasticity; (3) to assess the knowledge about spasticity and describe its clinical features. DESIGN: Observational, cross-sectional, multicentre study in 16 MS units of Catalonia (Spain). Participants were recruited from the outpatient facility and day-care hospital between July 2018 and June 2019 and met the following criteria: (1) age 18 or older, (2) diagnosis of MS according to McDonald criteria 2010 and (3) no clinical relapse in previous 30 days. METHODS: Specialist nurses conducted a structured interview divided in two parts: the assessment of (1) limitations in the ADL and (2) the presence of spasticity and associated symptoms. The usefulness of this intervention was requested. This study met the STROBE reporting guidelines checklist for observational studies. RESULTS: Three hundred sixty eight pwMS (244 women) with a mean age of 46 years and a median Expanded Disability Status Scale score of 2.5 (range, 0-8.5) were included. 262 (71%) pwMS had limitations in the ADL, and spasticity was reported as the most limiting symptom in 59 (23%). As a result of the interview, spasticity was observed in 199 (76%) participants; 47 (24%) of them were unaware that they had spasticity and 102 (51%) would not have reported it spontaneously. The level of the interview satisfaction was high (90%). CONCLUSIONS: Spasticity is a complex and limiting symptom in MS. The structured interview conducted by specialist nurses is feasible and has good acceptance. PATIENT CONTRIBUTION: Specialist nurses can be proactive in MS clinical assessment, which may help to detect symptoms with negative impact on quality of life.

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Purpose: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods: Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole exome sequencing. Results: The study allowed us to detect likely pathogenic variants in PEX6, a gene typically involved in peroxisomal biogenesis disorders (PBDs). Beside deaf-blindness, both families showed additional features: Siblings from Family 1 showed enamel alteration and abnormal peroxisome. In addition, the brother had mild neurodevelopmental delay and nephrolithiasis. The case II:1 from Family 2 showed intellectual disability, enamel alteration, and dysmorphism. Conclusions: We have reported three new cases with pathogenic variants in PEX6 presenting with milder forms of the Zellweger spectrum disorders (ZSD). The three cases showed distinct clinical features. Thus, expanding the phenotypic spectrum of PBDs and ascertaining exome sequencing is an effective strategy for an accurate diagnosis of clinically overlapping and genetically heterogeneous disorders such as deafness-blindness association.

Long-Term Impact of an Educational Antimicrobial Stewardship Program on Hospital-Acquired Candidemia and Multidrug-Resistant Bloodstream Infections: A Quasi-Experimental Study of Interrupted Time-Series Analysis.

BACKGROUND: The global crisis of bacterial resistance urges the scientific community to implement intervention programs in healthcare facilities to promote an appropriate use of antibiotics. However, the clinical benefits or the impact on resistance of these interventions has not been definitively proved. METHODS: We designed a quasi-experimental intervention study with an interrupted time-series analysis. A multidisciplinary team conducted a multifaceted educational intervention in our tertiary-care hospital over a 5-year period. The main activity of the program consisted of peer-to-peer educational interviews between counselors and prescribers from all departments to reinforce the principles of the proper use of antibiotics. We assessed antibiotic consumption, incidence density of Candida and multidrug-resistant (MDR) bacteria bloodstream infections (BSIs) and their crude death rate per 1000 occupied bed days (OBDs). RESULTS: A quick and intense reduction in antibiotic consumption occurred 6 months after the implementation of the intervention (change in level, -216.8 defined daily doses per 1000 OBDs; 95% confidence interval, -347.5 to -86.1), and was sustained during subsequent years (average reduction, -19,9%). In addition, the increasing trend observed in the preintervention period for the incidence density of candidemia and MDR BSI (+0.018 cases per 1000 OBDs per quarter; 95% confidence interval, -.003 to .039) reverted toward a decreasing trend of -0.130 per quarter (change in slope, -0.029; -.051 to -.008), and so did the mortality rate (change in slope, -0.015; -.021 to -.008). CONCLUSIONS: This education-based antimicrobial stewardship program was effective in decreasing the incidence and mortality rate of hospital-acquired candidemia and MDR BSI through sustained reduction in antibiotic use.

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.

BACKGROUND: This study was undertaken to analyse the OA1 gene (GPR143) and its involvement in a Spanish family presenting with nystagmus, a common symptom of X-linked ocular albinism (XLOA). METHODS: DNA samples from the index case and eight relatives were analysed by multiplex ligation-dependent probe amplification (MLPA). Sequence analysis and restriction assay were used to confirm the results. In addition, an analysis of a STR located in intron 1 of the OA1 gene (OA-CA) was performed. RESULTS: The father of the proband presented with nystagmus, a feature consistent with XLOA. Mutation screening by multiplex ligation-dependent probe amplification and sequence analysis of the exon 2 of the OA1 gene led to the identification of the novel p.Glu129fsX35 (g.5815delA) mutation in two affected males and four carrier females. Three relatives were found to be non-mutated. The deletion detected resulted in a truncated protein 35 codons downstream and generated a new restriction site for the XcmI endonuclease. Additionally, microsatellite analysis showed co-segregation with the disease in the family. CONCLUSIONS: A novel deletion in the OA1 gene was identified in a Spanish family with ocular albinism. The mutation detected is likely a loss-of-function alteration. To the best of our knowledge, we describe the first Spanish family known to present with XLOA due to mutations in the OA1 gene.

Use of extracellular vesicles from lymphatic drainage as surrogate markers of melanoma progression and BRAF V600E mutation.

Liquid biopsies from cancer patients have the potential to improve diagnosis and prognosis. The assessment of surrogate markers of tumor progression in circulating extracellular vesicles could be a powerful non-invasive approach in this setting. We have characterized extracellular vesicles purified from the lymphatic drainage also known as exudative seroma (ES) of stage III melanoma patients obtained after lymphadenectomy. Proteomic analysis showed that seroma-derived exosomes are enriched in proteins resembling melanoma progression. In addition, we found that the BRAFV600E mutation can be detected in ES-derived extracellular vesicles and its detection correlated with patients at risk of relapse.

The effectiveness of a learning strategies program for university students.

BACKGROUND: University lecturers often complain about their students’ lack of learning strategies, but not many universities in Spain offer specific courses in this area. Studies on their effectiveness are also rare. METHOD: This study presents the results of a Learning Strategies Course implemented at the School of Teacher Training and Education, University of Oviedo, Spain. A quasi-experimental design was used with an experi-mental (n = 60) and a control group (n = 57) of students on the Educational Psychology course. A Spanish adaptation of the Motivated Strategies for Learning Questionnaire (MSLQ): the CEAMR2 was used as a pre and post-test measure. Group A (EG) received training in learning strategies, while group B (CG) received no training. RESULTS: Post-test measures showed significant differences in five out of the ten learning strategies assessed: elaboration, organization, repetition, self-questioning and study space, and also an improvement in one out of the six motivational scales: control of learning beliefs. DISCUSSION: The results suggest that learning strategies courses with proven effectiveness should be offered to university students.

Homology models of the cannabinoid CB1 and CB2 receptors. A docking analysis study.

The 3D models of both CB1 and CB2 human receptors have been established by homology modeling using as template the X-ray structure of bovine Rhodopsin (code pdb: 1F88) a G-protein-coupled receptor (GPCR). A recursive approach comprising sequence alignment and model building was used to build both models, followed by the refinement of non-conserved regions. The cannabinoid system has been studied by means of docking techniques, using the 3D models of both CB1 and CB2 and well known reference inverse agonist/antagonist compounds. An approach based on the flexibility of the structures has been used to model the receptor-ligand complexes. The structural effects of ligand binding were studied and analyzed on the basis of hydrogen bond interactions, and binding energy calculations. Potential interaction sites of the receptor were determined from analysis of the difference accessible surface area (DASA) study of the protein with and without ligand.

Sugar contents of Brandy de Jerez during its aging.

Brandy de Jerez is aged in American oak casks according to the traditional dynamic system (Soleras y Criaderas) and sometimes additionally by the static system (Anadas). The experimental arrangement used here for the analytical monitoring of brandy aging consisted of 15 casks, 12 of which were set up for aging by the dynamic system, which is well established in the denomination of origin area, whereas the other 3 contained the same brandy but aged according to the static system. This paper studies the kinetics of sugar extraction from oak wood to distillate, as well as the possible correlations between the sugar contents in brandy and its age or the commercial type it belongs to (Solera, Solera Reserva, or Solera Gran Reserva). High-performance anion-exchange chromatography with pulsed amperometric detection was used as the analytical tool to measure the concentrations of glucose, fructose, arabinose, galactose, and xylose, the presence of which in brandy has previously been described.

Malformacion uterina arteriovenosa / Uterine arteriovenous malformation

RESUMEN La malformación arteriovenosa uterina (MAVU) es una causa poco frecuente de sangrado uterino, dado que en la mayoría de casos cursa de forma asintomática. Las MAVU son dilataciones varicosas arteriovenosas intramiometriales sin afectación capilar. Plantean un reto diagnóstico y terapéutico en el esfuerzo de la preservación de la fertilidad, constituyéndose la embolización como su principal tratamiento. En la actualidad, el estándar de oro para el diagnóstico de esta patología es la angiografía. Sin embargo, las modalidades menos invasivas como la ecografía Doppler color se utilizan cada vez más para el diagnóstico. Se presenta el caso de una mujer de 20 años de edad, con antecedente de embarazo molar y sangrado menstrual excesivo debido a MAVU.

ABSTRACT Uterine arteriovenous malformation (AVMV) is a rare cause of uterine bleeding, since most cases are asymptomatic. The MAVU are intramyometrial arteriovenous variceal dilatations without capillary involvement. They propouse a diagnostic and therapeutic challenge in the effort for preservation of fertility, constituting the embolization its main treatment. At present, the gold standard for the diagnosis of this pathology is angiography. However, less invasive modalities such as color Doppler ultrasound are increasingly used for diagnosis. We present the case of a 20-year-old woman with a history of molar pregnancy and excessive menstrual bleeding due to MAVU.

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

PURPOSE: Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease, autosomal recessive cone-rod dystrophy, and autosomal recessive retinitis pigmentosa. The purpose of this study was to determine (1) associations among mutations and polymorphisms and (2) the role of the polymorphisms as protector/risk factors. METHODS: A case-control study was designed in which 128 Spanish patients and 84 control individuals were analyzed. Patient samples presented one or two mutated alleles previously identified using ABCR400 microarray and sequencing. RESULTS: A total of 18 previously described polymorphisms were studied in patients and control individuals. All except one presented a polymorphisms frequency higher than 5% in patients, and five mutations were found to have a frequency >5%. The use of statistical methods showed that the frequency of the majority of polymorphisms was similar in patients and controls, except for the IVS10+5delG, p.Asn1868Ile, IVS48+21C>T, and p.Arg943Gln polymorphisms. In addition, IVS48+21C>T and p.Arg943Gln were found to be in linkage disequilibrium with the p.Gly1961Glu and p.Arg602Trp mutations, respectively. CONCLUSIONS: Although the high allelic heterogeneity in ABCA4 and the wide spectrum of many common and rare polymorphisms complicate the interpretation of clinical relevance, polymorphisms were identified that may act as risk factors (p.Asn1868Ile) and others that may act as protection factors (p.His423Arg and IVS10+5 delG).

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

PURPOSE: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD), a few cases of autosomal recessive cone-rod dystrophy (arCRD), and autosomal recessive retinitis pigmentosa (arRP). The purpose of this study was to compare high-resolution melting (HRM) analysis with denaturing high-performance liquid chromatography (dHPLC), to evaluate the efficiency of the different screening methodologies. METHODS: Thirty-eight STGD, 15 arCRD, and 5 arRP unrelated Spanish patients who had been analyzed with the ABCR microarray were evaluated. The results were confirmed by direct sequencing. In patients with either no or only one mutant allele, ABCA4 was further analyzed by HRM and dHPLC. Haplotype analysis was also performed. RESULTS: In a previous microarray analysis, 37 ABCA4 variants (37/116; 31.9%) were found. dHPLC and HRM scanning identified 18 different genotypes in 20 samples. Of the samples studied, 19/20 were identified correctly by HRM and 16/20 by dHPLC. One homozygous mutation was not detected by dHPLC; however, the p.Cys2137Tyr homozygote was distinguished from the wild-type by HRM technique. In the same way, one novel change in exon 5 (p.Arg187His) was found only by means of the HRM technique. In addition, dHPLC identified the mutation p.Trp1724Cys in one sample; however, HRM detected the mutation in two samples. CONCLUSIONS: ABCA4 should be analyzed by an optimal screening technique, to perform further characterization of pathologic alleles. The results seemed to show that HRM had better sensitivity and specificity than did dHPLC, with the advantage that some homozygous sequence alterations were identifiable.

Estudios sobre la mujer en tres revistas de salud publica / Studies on women in three public health journals: a bibliographicl review

Observa la influencia que la "Conferência Nacional de Saúde e Direitos da Mulher", realizada en Brasília, en 1986, tuvo sobre las principales publicaciones periódicas del área de la salud pública de Brasil, respecto al tema de la mujer. Se muestran los artículos publicados en tres revistas del área, relacionados con la salud de la mujer; sin pretender realizar un análisis profundo del contenido de los artículos citados. Para ello, se organizaron por área temática los artículos publicados a partir de 1986 en las tres revista: Revista de Saúde Pública, Saúde em Debate, y Cadernos de Saúde Pública. Se examinaron los artículos que tratan de la mujer, número de publicaciones y aspectos tratados en su contenido.

Correlación entre horas de lectura y miopia / Correlation between hours of reading and myopia

La intensión de esta investigación es relacionar las horas de lectura con la miopia. Se realizo un estudio observacional descriptivo, de corte transversal, con un componente analitico, donde se comparó estudiantes de medicina de la Universidad Nacional de Asunción y transeúntes del centro de Asunción, para el mismo se reclutaron 100 estudiantes de primer curso, 100 estudiantes de sexto curso y 100 transeúntes, siendo el número de hombres y mujeres igual. Se vió una frecuencia de 51 por ciento de personas con miopia en los estudiantes de medicina, contrastando con un 29 por ciento de los mismos en los transeúntes (p=0,00013); un 45, 8 por ciento de los miopes y un 34,3 por ciento de los no miopes lee mas de 12 horas por semana, donde se ve que las horas de lecturas es significativamente mayor en los miopes (p=0,02)