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1.
Front Psychol ; 14: 1122362, 2023.
Article in English | MEDLINE | ID: mdl-37034954

ABSTRACT

This research aimed to understand the role of after-school sports programs in social inclusion processes in culturally diverse contexts through a multicase study within two locations. The first location was in Spain where immigrant and Spanish students were enrolled, and the other was in Chile with Mapuche-Huilliche students, immigrant and Chilean students. The implemented programs at both sites were similar in their educational focus on socio-educational values, and teaching models (hybridization of teaching games for understanding and cooperative learning) that enhance social inclusion. Using individual and group interviews with teachers, sports coordinators, parents, and students, a qualitative approach was used to identify the factors that facilitate or hinder the social inclusion processes. In addition, the researchers used qualitative observations of the programs over six months using "notes logbook" to record their impressions during the observation process. Results indicated that the implemented sports programs successfully facilitated social inclusion processes, enabling the development of interpersonal skills and relationships between students from different cultural backgrounds. The previous training and experiences of teachers in culturally diverse contexts, and incorporation of traditional sporting games from all cultures, seems to be an important facilitator factor for the inclusion potential of the implemented programs.

2.
Blood ; 139(7): 1039-1051, 2022 02 17.
Article in English | MEDLINE | ID: mdl-34767620

ABSTRACT

Human telomere biology disorders (TBD)/short telomere syndromes (STS) are heterogeneous disorders caused by inherited loss-of-function mutations in telomere-associated genes. Here, we identify 3 germline heterozygous missense variants in the RPA1 gene in 4 unrelated probands presenting with short telomeres and varying clinical features of TBD/STS, including bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopenia, pulmonary fibrosis, or skin manifestations. All variants cluster to DNA-binding domain A of RPA1 protein. RPA1 is a single-strand DNA-binding protein required for DNA replication and repair and involved in telomere maintenance. We showed that RPA1E240K and RPA1V227A proteins exhibit increased binding to single-strand and telomeric DNA, implying a gain in DNA-binding function, whereas RPA1T270A has binding properties similar to wild-type protein. To study the mutational effect in a cellular system, CRISPR/Cas9 was used to knock-in the RPA1E240K mutation into healthy inducible pluripotent stem cells. This resulted in severe telomere shortening and impaired hematopoietic differentiation. Furthermore, in patients with RPA1E240K, we discovered somatic genetic rescue in hematopoietic cells due to an acquired truncating cis RPA1 mutation or a uniparental isodisomy 17p with loss of mutant allele, coinciding with stabilized blood counts. Using single-cell sequencing, the 2 somatic genetic rescue events were proven to be independently acquired in hematopoietic stem cells. In summary, we describe the first human disease caused by germline RPA1 variants in individuals with TBD/STS.


Subject(s)
Bone Marrow Failure Disorders/pathology , Gain of Function Mutation , Heterozygote , Myelodysplastic Syndromes/pathology , Replication Protein A/genetics , Telomere Shortening , Telomere/genetics , Adolescent , Adult , Bone Marrow Failure Disorders/etiology , Bone Marrow Failure Disorders/metabolism , Cell Differentiation , Child , Female , Humans , Infant, Newborn , Male , Middle Aged , Myelodysplastic Syndromes/etiology , Myelodysplastic Syndromes/metabolism , Young Adult
3.
Opt Express ; 29(23): 38441-38450, 2021 Nov 08.
Article in English | MEDLINE | ID: mdl-34808897

ABSTRACT

A large number of applications in classical and quantum photonics require the capability of implementing arbitrary linear unitary transformations on a set of optical modes. In a seminal work by Reck et al. [Phys. Rev. Lett.73, 58 (1994)10.1103/PhysRevLett.73.58], it was shown how to build such multiport universal interferometers with a mesh of beam splitters and phase shifters, and this design became the basis for most experimental implementations in the last decades. However, the design of Reck et al. is difficult to scale up to a large number of modes, which would be required for many applications. Here we present a deterministic algorithm that can find an exact and efficient implementation of any unitary transformation, using only Fourier transforms and phase masks. Since Fourier transforms and phase masks are routinely implemented in several optical setups and they do not suffer from some of the scalability issues associated with building extensive meshes of beam splitters, we believe that our design can be useful for many applications in photonics.

5.
Nat Med ; 27(10): 1806-1817, 2021 10.
Article in English | MEDLINE | ID: mdl-34621053

ABSTRACT

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.


Subject(s)
Clonal Evolution/genetics , Clonal Hematopoiesis/genetics , Intracellular Signaling Peptides and Proteins/genetics , Myelodysplastic Syndromes/genetics , Tumor Suppressor Proteins/genetics , Adolescent , Bone Marrow Cells/metabolism , Child , Child, Preschool , Female , GATA2 Transcription Factor/genetics , Germ-Line Mutation/genetics , HEK293 Cells , High-Throughput Nucleotide Sequencing , Humans , Infant , Kaplan-Meier Estimate , Male , Myelodysplastic Syndromes/pathology , Single-Cell Analysis
7.
J Med Microbiol ; 70(9)2021 Sep.
Article in English | MEDLINE | ID: mdl-34516365

ABSTRACT

Introduction. The identification of enteropathogens is critical for the clinical management of patients with suspected gastrointestinal infection. The FLOW multiplex PCR system (FMPS) is a semi-automated platform (FLOW System, Roche) for multiplex real-time PCR analysis.Hypothesis/Gap Statement. FMPS has greater sensitivity for the detection of enteric pathogens than standard methods such as culture, biochemical identification, immunochromatography or microscopic examination.Aim.The diagnostic performance of the FMPS was evaluated and compared to that of traditional microbiological procedures.Methodology. A total of 10 659 samples were collected and analysed over a period of 7 years. From 2013 to 2018 (every July to September), samples were processed using standard microbiological culture methods. In 2019, the FMPS was implemented using real-time PCR to detect the following enteropathogens: Shigella spp., Salmonella spp., Campylobacter spp., Giardia intestinalis, Entamoeba histolytica, Blastocystis hominis, Cryptosporidum spp., Dientamoeba fragilis, adenovirus, norovirus and rotavirus. Standard microbiological culture methods (2013-2018) included stool culture, microscopy and immunochromatography.Results. A total of 1078 stool samples were analysed prospectively using the FMPS from July to September (2019): bacterial, parasitic and viral pathogens were identified in 15.3, 9.71 and 5.29 % of cases, respectively. During the same period of 6 years (2013-2018), the proportion of positive identifications using standard microbiological methods from 2013 to 2018 was significantly lower. A major significant recovery improvement was observed for all bacteria species tested: Shigella spp./enteroinvasive Escherichia coli (EIEC) (P <0.05), Salmonella spp. (P <0.05) and Campylobacter spp. (P <0.05). Marked differences were also observed for the parasites G. intestinalis, Cryptosporidium spp. and D. fragilis.Conclusion. These results support the value of multiplex real-time PCR analysis for the detection of enteric pathogens in laboratory diagnosis with outstanding performance in identifying labile micro-organisms. The identification of unsuspected micro-organisms for less specific clinical presentations may also impact on clinical practice and help optimize patient management.


Subject(s)
Gastroenteritis/diagnosis , Multiplex Polymerase Chain Reaction , Real-Time Polymerase Chain Reaction , Adenoviridae/isolation & purification , Blastocystis hominis/isolation & purification , Campylobacter/isolation & purification , Cryptosporidium/isolation & purification , Dientamoeba/isolation & purification , Entamoeba histolytica/isolation & purification , Feces/microbiology , Feces/parasitology , Feces/virology , Gastroenteritis/microbiology , Gastroenteritis/parasitology , Giardia lamblia/isolation & purification , Humans , Norovirus/isolation & purification , Rotavirus/isolation & purification , Salmonella/isolation & purification , Shigella/isolation & purification
8.
Cancer Discov ; 11(12): 3008-3027, 2021 12 01.
Article in English | MEDLINE | ID: mdl-34301788

ABSTRACT

Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-risk disease. Here, we used a three-platform sequencing approach, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RNA-seq), to examine tumor and germline genomes from 309 prospectively identified children with newly diagnosed (85%) or relapsed/refractory (15%) cancers, unselected for tumor type. Eighty-six percent of patients harbored diagnostic (53%), prognostic (57%), therapeutically relevant (25%), and/or cancer-predisposing (18%) variants. Inclusion of WGS enabled detection of activating gene fusions and enhancer hijacks (36% and 8% of tumors, respectively), small intragenic deletions (15% of tumors), and mutational signatures revealing of pathogenic variant effects. Evaluation of paired tumor-normal data revealed relevance to tumor development for 55% of pathogenic germline variants. This study demonstrates the power of a three-platform approach that incorporates WGS to interrogate and interpret the full range of genomic variants across newly diagnosed as well as relapsed/refractory pediatric cancers. SIGNIFICANCE: Pediatric cancers are driven by diverse genomic lesions, and sequencing has proven useful in evaluating high-risk and relapsed/refractory cases. We show that combined WGS, WES, and RNA-seq of tumor and paired normal tissues enables identification and characterization of genetic drivers across the full spectrum of pediatric cancers. This article is highlighted in the In This Issue feature, p. 2945.


Subject(s)
Neoplasms , Child , DNA , Humans , Mutation , Neoplasms/genetics , Sequence Analysis, RNA , Exome Sequencing
9.
Leukemia ; 34(10): 2673-2687, 2020 10.
Article in English | MEDLINE | ID: mdl-32555368

ABSTRACT

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2. In total, we identified nine individuals with five heterozygous synonymous mutations: c.351C>G, p.T117T (N = 4); c.649C>T, p.L217L; c.981G>A, p.G327G; c.1023C>T, p.A341A; and c.1416G>A, p.P472P (N = 2). They accounted for 8.2% (9/110) of cases with GATA2 deficiency in our cohort and resulted in selective loss of mutant RNA. While for the hotspot mutation (c.351C>G) a splicing error leading to RNA and protein reduction was identified, severe, likely late stage RNA loss without splicing disruption was found for other mutations. Finally, the synonymous mutations did not alter protein function or stability. In summary, synonymous GATA2 substitutions are a new common cause of GATA2 deficiency. These findings have broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.


Subject(s)
GATA2 Deficiency/genetics , GATA2 Transcription Factor/deficiency , GATA2 Transcription Factor/genetics , RNA/genetics , Silent Mutation/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Genetic Association Studies , Genetic Predisposition to Disease/genetics , Germ-Line Mutation/genetics , Heterozygote , Humans , Immunologic Deficiency Syndromes/genetics , Male , Myelodysplastic Syndromes/genetics , Phenotype , Young Adult
10.
PLoS Negl Trop Dis ; 14(2): e0008082, 2020 02.
Article in English | MEDLINE | ID: mdl-32069280

ABSTRACT

BACKGROUND: Dengue virus (DENV) is the most important arbovirus worldwide, causing infections in endemic countries and returning travellers from these areas. Rapid diagnostic tests are needed to improve patient management and monitor local transmission. The detection of DENV non-structural protein 1 (NS1) is a useful tool for the diagnosis, but the currently available methods can be time consuming or lack sensitivity. The objective of our study was to evaluate a new rapid and semi-quantitative microfluidic DENV NS1 immuno-magnetic agglutination assay based on aggregation of magnetic nanoparticles detected by an electronic reader (Virotrack Dengue Acute and Blubox, Blusense diagnostics, Copenhagen, Denmark). METHODOLOGY/PRINCIPAL FINDINGS: A panel of 135 serum samples from travelers returning from dengue endemic countries was analyzed (74 DENV positive samples including the four DENV serotypes, 26 Zika virus positive samples, 25 chikungunya virus positive samples, 5 malaria positive samples and 5 negative samples). Samples were tested by three different antigen detection methods: SD Dengue NS1 Ag ELISA, SD BIOLINE Dengue Duo and ViroTrack Dengue Acute. The sensitivity observed for SD Dengue NS1 Ag ELISA, ViroTrack Dengue Acute and SD BIOLINE Dengue Duo was 97.2%, 91.1% and 68.1%, respectively. All methods showed high specificity (98.4% for ViroTrack Dengue Acute and 100% for both SD Dengue NS1 Ag ELISA and SD BIOLINE Dengue Duo). SD Dengue NS1 Ag ELISA and ViroTrack Dengue Acute only failed to detect samples positive for DENV-2. CONCLUSIONS/SIGNIFICANCE: ViroTrack Dengue Acute is a sensitive and specific assay for DENV NS1 detection. It provides faster results than the ELISA method and a better performance than the rapid immunochromatographic tests. ViroTrack Dengue Acute could represent a valuable tool for rapid diagnosis of DENV infections in returning travellers from endemic countries.


Subject(s)
Antigens, Viral/isolation & purification , Dengue Virus/metabolism , Immunomagnetic Separation/methods , Microfluidic Analytical Techniques/methods , Viral Nonstructural Proteins/chemistry , Dengue Virus/classification , Viral Nonstructural Proteins/metabolism
11.
Educ. fis. deporte ; 39(1): https://revistas.udea.edu.co/index.php/educacionfisicaydeporte/article/view/340292, Enero 2020.
Article in Spanish | LILACS | ID: biblio-1104458

ABSTRACT

Objetivo: establecer si maestros de educación física utilizan sistemas de Evaluación Formativa y Compartida en sus aulas, y observar las ventajas e inconvenientes que supone la implementación de este tipo de evaluación. Método: estudio con diseño de metodología mixta. Se seleccionó una muestra a conveniencia de 17 maestros. Como instrumentos para la obtención de datos se aplicó un cuestionario cerrado con escala tipo Likert y se realizaron entrevistas semi-estructuradas. Resultados y conclusión: se encontró que los docentes sí utilizan sistemas de Evaluación Formativa y Compartida en el aula, y consideran que la ventaja fundamental es que el alumnado se hace consciente y mejora su proceso de enseñanza aprendizaje. Como inconveniente principal, los maestros destacan la carga de trabajo que supone, tanto para el profesorado, como para el alumnado.


Objective: To establish if physical education teachers use formative and shared assessment systems in their classrooms, and to observe the advantages and disadvantages of using this type of assessment. Method: Study with mixed methodology design. A sample of 17 teachers was selected at the convenience. As instruments for obtaining data, a closed questionnaire with a Likert-type scale was applied, and semi-structured interviews were carried out. Results and Conclusion: It was found that teachers do use formative and shared assessment systems in their classrooms, and they consider that the fundamental advantage is that students become aware and improve their teaching-learning process. As the principal disadvantage, teachers highlight the workload that it entails for both, teachers and students.


Objetivo: estabelecer se os professores de educação física usam sistemas de avaliação formativa e compartilhada nas aulas, bem como observar as vantagens e desvantagens que supõe este tipo de avaliação. Método: estudo com desenho de uma metodologia mista. Selecionou-se uma amostra por conveniência de 17 professores. Nessa metodologia foram usados como instrumentos de recolha de dados: um questionário fechado com escala tipo Likert e entrevistas semiestruturadas. Resultados e conclusão: evidenciou-se que os professores usam sistemas de avaliação formativa e compartilhada nas suas aulas e consideram que sua vantagem principal é que os alunos são conscientes e melhoram o seu processo de ensino-aprendizagem. Como principal desvantagem, os professores destacam o volume de trabalho que isso implica tanto para os professores quanto para os alunos.


Subject(s)
Physical Education and Training , Educational Measurement , Education , Teacher Training
13.
Haematologica ; 103(6): 949-958, 2018 06.
Article in English | MEDLINE | ID: mdl-29599205

ABSTRACT

Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. Here the European DBA consortium reports novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with DBA. Although point mutations have not been previously reported for RPL15, we identified 4 individuals with truncating mutations p.Tyr81* (in 3 of 4) and p.Gln29*, and 2 with missense variants p.Leu10Pro and p.Lys153Thr. Notably, 75% (3 of 4) of truncating mutation carriers manifested with severe hydrops fetalis and required intrauterine transfusions. Even more remarkable is the observation that the 3 carriers of p.Tyr81* mutation became treatment-independent between four and 16 months of life and maintained normal blood counts until their last follow up. Genetic reversion at the DNA level as a potential mechanism of remission was not observed in our patients. In vitro studies revealed that cells carrying RPL15 mutations have pre-rRNA processing defects, reduced 60S ribosomal subunit formation, and severe proliferation defects. Red cell culture assays of RPL15-mutated primary erythroblast cells also showed a severe reduction in cell proliferation, delayed erythroid differentiation, elevated TP53 activity, and increased apoptosis. This study identifies a novel subgroup of DBA with mutations in the RPL15 gene with an unexpected high rate of hydrops fetalis and spontaneous, long-lasting remission.


Subject(s)
Anemia, Diamond-Blackfan/complications , Anemia, Diamond-Blackfan/genetics , Hydrops Fetalis/diagnosis , Hydrops Fetalis/etiology , Mutation , Pregnancy Complications, Hematologic , Ribosomal Proteins/genetics , Anemia, Diamond-Blackfan/diagnosis , Anemia, Diamond-Blackfan/therapy , Apoptosis/genetics , Biomarkers , Cell Differentiation/genetics , Cell Line , Cell Proliferation , DNA Mutational Analysis , Erythrocyte Indices , Female , Genes, p53 , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Humans , Male , Pedigree , Phenotype , Pregnancy , Protein Biosynthesis
14.
Rev. Fac. Med. (Bogotá) ; 66(1): 37-43, ene.-mar. 2018. tab
Article in Spanish | LILACS | ID: biblio-896821

ABSTRACT

Resumen Introducción. La salud y el deporte configuran prácticas, creencias y relaciones culturales particulares en cada contexto. Objetivo. Analizar las creencias de estudiantes inmigrantes y mapuche-huilliche sobre la relación entre deporte escolar y salud. Materiales y métodos. Se desarrolló un estudio multicaso cualitativo con enfoque etnográfico. Participaron 71 sujetos subdivididos en dos grupos: uno constituido por estudiantes inmigrantes que participaban de un programa de deporte escolar con principios comprensivos de enseñanza en España (n=47) y otro compuesto por alumnos de la etnia Mapuche-Huilliche que participaban de un programa análogo en Chile (n=24). Para la recolección de datos se aplican tres entrevistas colectivas a cada grupo. Resultados. Ambos colectivos perciben una asociación positiva entre la participación en deporte escolar y el desarrollo de la salud en diferentes dimensiones. Existen diferencias respecto a la interpretación cultural que ambos grupos otorgan al concepto salud y sus posibles relaciones con el deporte escolar. Sin embargo, en ambos contextos existen situaciones en que se considera de forma parcial la cultura de los estudiantes para trabajar sobre estos temas. Conclusiones. Estudiantes inmigrantes y mapuche-huilliche establecen creencias positivas sobre la relación entre deporte escolar y desarrollo de salud en sus diferentes manifestaciones.


Abstract Introduction: Health and sports shape particular practices, beliefs and cultural relationships in different contexts. Objective: To analyze the beliefs of immigrant and Huilliche-Mapuche students about the correlation between school sports and health. Materials and methods: A qualitative multiple-case study was developed based on an ethnographic approach. Participants included 71 subjects subdivided into two groups: one made up of immigrant students who participated in a school sports program with comprehensive teaching principles in Spain (n=47) and another made up of Huilliche-Mapuche students who participated in a similar program in Chile (n=24). Three group interviews were applied to each group for data collection. Results: Both groups perceived a positive association between participation in school sports and the development of health in different dimensions. There are differences regarding the cultural interpretation that both groups give to the concept of health and its possible correlation with school sports. However, both contexts present situations in which the culture of students is partially considered to work on these issues. Conclusions: Migrant and Huilliche-Mapuche students reported positive beliefs about the correlation between school sports and health development in its different manifestations.

15.
Haematologica ; 103(3): 427-437, 2018 03.
Article in English | MEDLINE | ID: mdl-29217778

ABSTRACT

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with thrombocytopenia with or without additional cytopenias and a hypocellular marrow without an increase of blasts. Genomic studies identified constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21, with decreased allele frequency in hematopoiesis. The non-random loss of mutated SAMD9L alleles was attained via monosomy 7, deletion 7q, UPD7q, or acquired truncating SAMD9L variants p.R1188X and p.S1317RfsX21. Incomplete penetrance was noted in 30% (3/10) of mutation carriers. Long-term observation revealed divergent outcomes with either progression to leukemia and/or accumulation of driver mutations (n=2), persistent monosomy 7 (n=4), and transient monosomy 7 followed by spontaneous recovery with SAMD9L-wildtype UPD7q (n=2). Dysmorphic features or neurological symptoms were absent in our patients, pointing to the notion that myelodysplasia with monosomy 7 can be a sole manifestation of SAMD9L disease. Collectively, our results define a new subtype of familial myelodysplastic syndrome and provide an explanation for the phenomenon of transient monosomy 7. Registered at: www.clinicaltrials.gov; #NCT00047268.


Subject(s)
Chromosome Deletion , Myelodysplastic Syndromes/genetics , Tumor Suppressor Proteins/genetics , Adolescent , Adult , Child , Child, Preschool , Chromosomes, Human, Pair 7 , Family Health , Female , Humans , Infant , Male , Pedigree , Penetrance , Thrombocytopenia , Young Adult
16.
Salud pública Méx ; 59(6): 650-656, nov.-dic. 2017. graf
Article in Spanish | LILACS | ID: biblio-903831

ABSTRACT

Resumen: Objetivo: Evaluar el comportamiento epidemiológico de la varicela y el herpes zoster (HZ) para determinar políticas de salud y disminuir prevalencia y complicaciones. Material y métodos: La frecuencia de casos se estimó con datos del Sistema Único de Información para la Vigilancia Epidemiológica (SUIVE), periodo 2000-2013; para los egresos hospitalarios de varicela y HZ, se utilizaron datos del Sistema Nacional de Información en Salud (Sinais). Resultados: El promedio de casos de varicela anual fue 296 733, 57% menores de 9 años, la mayoría de marzo a mayo; de 2004 a 2012 los egresos hospitalarios de varicela fueron 17 398, de ellos 4.6% presentó meningoecefalitis, 2.5% neumonía y 18% otras complicaciones. Por herpes zoster 7 042 egresos, más afectados de 65 años o más, 1.3:1 la relación mujer:hombre. Las complicaciones: neuralgia (11%), afección ocular (7%), meningoencefalitis (5.4%), enfermedad diseminada (2.8%) y otras (5.4%); estancia hospitalaria entre 6.4 a 13.3 días. Conclusiones: Los datos coinciden con los de la literatura de otros países. Se discute el papel de la vacunación en la prevención de la infección en niños y adultos.


Abstract: Objective: To evaluate the epidemiological behavior of varicella and herpes zoster (HZ) to determine the need of health policies to diminish prevalence and avoid complications. Materials and methods: To assess frequency, we analyzed data from the National Information System for Epidemiological Surveillance (SUIVE) from 2000 to 2013; to assess the discharge data of varicella and HZ, we evaluated information from the National System of health information (Sinais). Results: The average annual cases of chickenpox were 296 733, 57% mostly children under 9 years, most of them from March to May. From 2004 to 2012 hospital discharge of varicella were 17 398, of which 4.6% had meningoecephalitis, 2.5% pneumonia and 18% other complications. For herpes zoster 7 042 discharges, mostly affected were patients 65 years or older, 1.3:1 the woman-man relationship. Main complications were: neuralgia (11%), eye involvement (7%), meningoencephalitis (5.4%), disseminated disease (2.8%) and others (5.4%); hospital stay was between 6.4 and 13.3 days. Conclusions: Data is consistent with that of the literature in other countries. The role of vaccination to prevent infection in children and adults is discussed.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Chickenpox/epidemiology , Herpes Zoster/epidemiology , Patient Discharge/statistics & numerical data , Seasons , Chickenpox/complications , Chickenpox/prevention & control , Public Health , Prevalence , Encephalitis, Herpes Simplex/epidemiology , Geography, Medical , Health Policy , Health Services Needs and Demand , Herpes Zoster/complications , Length of Stay , Neuralgia/epidemiology
17.
Klin Padiatr ; 229(6): 329-334, 2017 Nov.
Article in English | MEDLINE | ID: mdl-29132164

ABSTRACT

Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected. Mutations in RUNX1 and genes of the RAS pathway appeared more instrumental in the pathogenesis of FA myeloid malignancies. RUNX1 mutations were associated with more advanced disease. Interestingly, one patient with refractory anemia with ring sideroblasts harbored the SF3B1 p.K700E mutation highlighting the mutation's causative role in MDS with ring sideroblasts even in the context of FA. On the whole, our findings implicate a different genetic architecture of FA MDS/AML from adult sporadic MDS. Notably, the genetic events resemble those described in pediatric MDS.


Subject(s)
Anemia, Sideroblastic/genetics , Fanconi Anemia/genetics , Leukemia, Myeloid, Acute/genetics , Myelodysplastic Syndromes/genetics , RNA Splicing Factors/genetics , Adult , Anemia, Sideroblastic/pathology , Child , Fanconi Anemia/pathology , Humans , Leukemia, Myeloid, Acute/pathology , Mutation , Myelodysplastic Syndromes/pathology , Phosphoproteins , RNA Splicing Factors/metabolism
18.
Salud Publica Mex ; 59(6): 650-656, 2017.
Article in Spanish | MEDLINE | ID: mdl-29451634

ABSTRACT

OBJECTIVE: To evaluate the epidemiological behavior of varicella and herpes zoster (HZ) to determine the need of health policies to diminish prevalence and avoid complications. MATERIALS AND METHODS: To assess frequency, we analyzed data from the National Information System for Epidemiological Surveillance (SUIVE) from 2000 to 2013; to assess the discharge data of varicella and HZ, we evaluated information from the National System of health information (Sinais). RESULTS: The average annual cases of chickenpox were 296 733, 57% mostly children under 9 years, most of them from March to May. From 2004 to 2012 hospital discharge of varicella were 17 398, of which 4.6% had meningoecephalitis, 2.5% pneumonia and 18% other complications. For herpes zoster 7 042 discharges, mostly affected were patients 65 years or older, 1.3:1 the woman-man relationship. Main complications were: neuralgia (11%), eye involvement (7%), meningoencephalitis (5.4%), disseminated disease (2.8%) and others (5.4%); hospital stay was between 6.4 and 13.3 days. CONCLUSIONS: Data is consistent with that of the literature in other countries. The role of vaccination to prevent infection in children and adults is discussed.


OBJETIVO: Evaluar el comportamiento epidemiológico de la varicela y el herpes zoster (HZ) para determinar políticas de salud y disminuir prevalencia y complicaciones. MATERIAL Y MÉTODOS: La frecuencia de casos se estimó con datos del Sistema Único de Información para la Vigilancia Epidemiológica (SUIVE), periodo 2000-2013; para los egresos hospitalarios de varicela y HZ, se utilizaron datos del Sistema Nacional de Información en Salud (Sinais). RESULTADOS: El promedio de casos de varicela anual fue 296 733, 57% menores de 9 años, la mayoría de marzo a mayo; de 2004 a 2012 los egresos hospitalarios de varicela fueron 17 398, de ellos 4.6% presentó meningoecefalitis, 2.5% neumonía y 18% otras complicaciones. Por herpes zoster 7 042 egresos, más afectados de 65 años o más, 1.3:1 la relación mujer:hombre. Las complicaciones: neuralgia (11%), afección ocular (7%), meningoencefalitis (5.4%), enfermedad diseminada (2.8%) y otras (5.4%); estancia hospitalaria entre 6.4 a 13.3 días. CONCLUSIONES: Los datos coinciden con los de la literatura de otros países. Se discute el papel de la vacunación en la prevención de la infección en niños y adultos.


Subject(s)
Chickenpox/epidemiology , Herpes Zoster/epidemiology , Aged , Chickenpox/complications , Chickenpox/prevention & control , Encephalitis, Herpes Simplex/epidemiology , Female , Geography, Medical , Health Policy , Health Services Needs and Demand , Herpes Zoster/complications , Herpes Zoster/prevention & control , Humans , Length of Stay , Male , Middle Aged , Neuralgia/epidemiology , Patient Discharge/statistics & numerical data , Prevalence , Public Health , Seasons
19.
Movimento (Porto Alegre) ; 22(4)out..-dez. 2016.
Article in Spanish | LILACS | ID: biblio-875830

ABSTRACT

Resumen: El objetivo de este estudio es conocer cómo percibe el alumnado de Formación Inicial del Profesorado de Educación Física la aplicación de un modelo de evaluación formativa, centrándonos en las ventajas, dificultades y grado de satisfacción. El estudio se realizó con una muestra de 136 estudiantes de la Facultad de Magisterio. Se aplicó la Escala CMEFIEF y se realizaron estadísticos descriptivos e inferenciales. Los resultados muestran un alto grado de satisfacción y una valoración alta de ventajas, como ofrecer alternativas a todo el alumnado y facilitarle un aprendizaje útil y activo; mientras que las mayores dificultades están relacionadas con las exigencias respecto a la implicación del alumnado. (AU)


Resumo: O objetivo deste estudo é conhecer como os estudantes de formação inicial para professores de Educação Física percebem a aplicação de um modelo de avaliação formativa, enfocando as vantagens, dificuldades e satisfação deste modelo. O estudo foi realizado com uma amostra de 136 estudantes da Faculdade de Educação. A escala CMEFIEF foi aplicada e foram realizadas estatísticas descritiva e inferencial. Os resultados mostram um alto grau de satisfação do aluno e alta valorização dos benefícios, como oferecer alternativas para todos os alunos e proporcionar uma aprendizagem útil e ativa; enquanto as maiores dificuldades estão relacionadas com os requisitos relativos à participação dos estudantes. (AU)


Abstract: This study aims to know how Physical Education studies during initial training perceive the implementation of a model of formative evaluation, focusing on advantages, difficulties and level of satisfaction. The study was conducted with a sample of 136 students from the School of Education. The CMEFIEF Scale was applied and descriptive and inferential statistics were conducted. The results show a high level of satisfaction and high appreciation for benefits such as offering alternatives to all students and promoting useful and active learning, while the most important difficulties are related to requirements regarding students' involvement. (AU)


Subject(s)
Humans , Male , Female , Educational Measurement , Faculty , Physical Education and Training
20.
Eval Program Plann ; 58: 106-115, 2016 10.
Article in English | MEDLINE | ID: mdl-27362584

ABSTRACT

This research applies a communicative methodology (CM) to the transformation and improvement of the Municipal Comprehensive School Sports Programme in Segovia, Spain (MCSSP), using egalitarian dialogue, based on validity rather than power claims to achieve intersubjectivity and arrive at consensus between all of the Programme's stakeholders through the intervention of an advisory committee (AC). The AC is a body comprising representatives of all stakeholder groups involved in the programme. During the 2013-2014 academic year the programme's AC met four times, operating as a communicative focus group (CFG). The meetings focused on: (1) excluding dimensions (barriers preventing transformation) and transforming dimensions (ways of overcoming barriers), (2) the programme's strengths, (3) the programme's weaknesses and specific actions to remedy them, and (4) the resulting conclusions which were then incorporated into the subsequent programme contract signed between the University and the Segovia Local Authority for 2014-2018. The key conclusions were: (1) the recommendations of the AC widen the range of perspectives and help the research team to make key decisions and (2) the use of CM to fully evaluate the programme and to reach a consensus on how to improve it proved very valuable.


Subject(s)
Advisory Committees/organization & administration , Communication , Program Development/methods , Schools/organization & administration , Sports , Focus Groups , Humans , Program Evaluation , Research Design , Spain , Strategic Planning
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