Immediate implants following tooth extraction. A systematic review

Objectives: The aim of this article is to review the current state of immediate implants, with their pros and contras, and the clinical indications and contraindications. Material and Methods: An exhaustive literature search has been carried out in the COCHRANE library and MEDLINE electronic databases from 2004 to November 2009. Randomized clinical trials and clinical trials focused on single implants placed in fresh extraction sockets were included and compared. A meta-analysis could not be performed due to heterogeneity of the data. Results: Twenty studies out of 135 articles from the initial search were finally included, which summed up a total of 1139 immediate implants with at least a 12-month follow-up. Our results have been compared with other current available papers in the literature reviewed that obtained similar outcomes. Discussion: Immediate implants have predictable results with several advantages over delayed implant placement. However, technical complications have been described regarding this technique. Also, biomaterials may be needed when the jumping distance is greater than 1mm or any bone defect is present. Conclusions: Few studies report on success rates rather than survival rates in the literature reviewed. Short-term clinical results were described and results were comparable to those obtained with delayed implant placement. Further long-term, randomized clinical trials are needed to give scientific evidence on the benefits of immediate implants over delayed implant placement. © Medicina Oral S. L

El proceso de enseñanza-aprendizaje de la Estadística. Concepciones y creencias de los profesores universitarios (Original).

The objective of this article was to describe the beliefs and conceptions of a group of Statistics teachers of the University of Sancti Spíritus "José Martí Pérez" about the teaching-learning process. A descriptive level research was carried out, in a transversal way, in which two questionnaires were applied in the form of a survey: an open and a closed one with a Likert scale. The Statistics teacher was used as the unit of study, from a voluntary sample of eight teachers. In the statistical processing of the data collected, the mean and standard deviation were used. The results showed that the students present difficulties in the previous contents to face the subject, in identifying the adequate statistical technique to solve a research problem and presented a lack of commitment with their learning. The teachers expressed the need to be updated on the methods, means, organizational forms and types of evaluation most used in the teaching-learning process of Statistics.Este artículo tuvo como objetivo describir las creencias y concepciones de un grupo de profesores de Estadística de la Universidad de Sancti Spíritus “José Martí Pérez” sobre el proceso de enseñanza-aprendizaje. Se realizó una investigación del nivel descriptivo, de forma transversal, en la cual se aplicaron dos cuestionarios en forma de encuesta: uno abierto y otro cerrado con escala Likert. Se utilizó como unidad de estudio al profesor de Estadística, de una muestra voluntaria de ocho profesores. En el procesamiento estadístico de los datos recogidos se utilizó la media y la desviación típica. Los resultados arrojaron que los estudiantes presentaron dificultades en los contenidos precedentes para enfrentar la asignatura, en identificar la técnica estadística adecuada para resolver un problema de investigación y falta de compromiso con su aprendizaje. En los profesores se manifestó la necesidad de actualizarse sobre los métodos, los medios, las formas organizativas y los tipos de evaluación más utilizados en el proceso de enseñanza-aprendizaje de la Estadística

Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease

11 páginas, 3 figuras, 2 tablasIntroduction: The aim of this study is to describe the frequency and distribution of SOD1 mutations in Spain, and to explore those factors contributing to their phenotype and prognosis. Methods: Seventeen centres shared data on amyotrophic lateral sclerosis (ALS) patients carrying pathogenic or likely pathogenic SOD1 variants. Multivariable models were used to explore prognostic modifiers. Results: In 144 patients (from 88 families), 29 mutations (26 missense, 2 deletion/insertion and 1 frameshift) were found in all 5 exons of SOD1, including 7 novel mutations. 2.6% of ALS patients (including 17.7% familial and 1.3% sporadic) were estimated to carry SOD1 mutations. Its frequency varied considerably between regions, due to founder events. The most frequent mutation was p.Gly38Arg (n = 58), followed by p.Glu22Gly (n = 11), p.Asn140His (n = 10), and the novel p.Leu120Val (n = 10). Most mutations were characterized by a protracted course, and some of them by atypical phenotypes. Older age of onset was independently associated with faster disease progression (exp(Estimate) = 1.03 [0.01, 0.05], p = 0.001) and poorer survival (HR = 1.05 [1.01, 1.08], p = 0.007), regardless of the underlying mutation. Female sex was independently associated to faster disease progression (exp(Estimate) = 2.1 [1.23, 3.65], p = 0.012) in patients carrying the p.Gly38Arg mutation, resulting in shorter survival compared with male carriers (236 vs 301 months). Conclusions: These data may help to evaluate the efficacy of SOD1 targeted treatments, and to expand the number of patients that might benefit from these treatments.This study has received funding from: Instituto de Salud Carlos III (21/00737 PI J.F.V.C., 19/01178 PI T.S., PI 19/01543 to R.R.), cofunded by European Regional Development Fund (‘A way to make Europe’); STOPELA (2017/0653); I + D biomedicina 2017 from Comunidad de Madrid ‘ELA-Madrid’ (B2017/BMD-3813 to A.G.-R.); estrategias frente a Enfermedades Neurodegenerativas Ministerio de Sanidad – Comunidad de Madrid B.O.C.M. Num. 142 - Lunes 17 de junio de 2019 - Pág. 10 ‘Estudio genético de la población con ELA de la Comunidad de Madrid’ to A.G.-R. The Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and the Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) are initiatives from the ISCIII. J.F.V.C., T.S., C.P., M.P., R.R.-G., J.T.S. and R.J.M. are members of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD). The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.Peer reviewe

El uso de la infografía como herramienta pedagógica en el aula: aportaciones para el desarrollo de proyectos de investigación y la difusión de resultados en el ámbito del Trabajo Social

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Novel genes and sex differences in COVID-19 severity

[EN] Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.S

Análisis estructural prospectivo sobre la enseñanza de la Estadística en las carreras universitarias

Este trabajo tiene como objetivo identificar cuáles son las variables a través de los cuales se puede medir la calidad del proceso de enseñanza-aprendizaje de la Estadística en las carreras universitarias donde se imparte esta asig - natura a partir de la dificultades que se presentan en la actualidad, mediante un análisis estructural prospectivo que permita determinar las variables determinantes, cla - ves, autónomas y de resultado, variables esenciales para la determinación de la evolución del sistema

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.

MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive phenotypical description and, if possible, to establish a genotype-phenotype correlation. Retrospectively, data on patients diagnosed with CMT2Z in Spain were collected and clinical, electrophysiological and muscle imaging information were analysed. Fifteen patients with CMT2Z were identified throughout Spain, seven of them belonging to a single kindred, whilst the rest were sporadic. The most common mutation was p.R252W, and four new mutations were identified. Eleven patients were categorized as having a scapuloperoneal phenotype, with asymmetric muscle weakness, early proximal upper limb involvement and frequent spontaneous muscular activity with distal sensory impairment and pes cavus, whilst two presented with a more classic length dependent sensory motor phenotype. This distinction was corroborated by the distribution of muscle fatty infiltration in muscle imaging. Two other patients were classified as having a neurodevelopmental phenotype consisting in congenital or early onset, delay in motor milestones, and global developmental delay in one of them. Nerve conduction studies revealed an unequivocally axonal neuropathy with frequent spontaneous activity, and serum creatine kinase levels were increased in 50% of the patients. MORC2 mutations are a rare cause of CMT in Spain, but in-depth phenotyping reveals a recognizable phenotypic spectrum that will be clinically relevant for future identification of this disease

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C : A prospective observational study

Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with ≥2 clinical signs/symptoms of NP-C were considered 'suspected NP-C' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI ≥70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 [4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores ≥70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis