RESUMO
The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity. While large groups of Caucasian and Asiatic individuals suffering from ABCA4R have been well characterized, molecular information from certain ethnic groups is limited or unavailable, precluding a more realistic knowledge of ABCA4-related mutational profile worldwide. In this study, we describe the molecular findings of a large group of 211 ABCA4R index cases from Mexico. Genotyping was performed using either next generation sequencing (NGS) of a retinal dystrophy genes panel or exome. ABCA4 targeted mutation testing was applied to a subgroup of subjects in whom founder mutations were suspected. A total of 128 different ABCA4 pathogenic variants were identified, including 22 previously unpublished variants. The most common type of genetic variation was single nucleotide substitutions which occurred in 92.7% (408/440 alleles). According to the predicted protein effect, the most frequent variant type was missense, occurring in 83.5% of disease-causing alleles (368/440). Mutations such as p.Ala1773Val are fully demonstrated as a founder effect in native inhabitants of certain regions of Mexico. This study also gives us certain indications of other founder effects that need to be further studied in the near future. This is the largest molecularly characterized ABCA4R Latin American cohort, and our results supports the value of conducting genetic screening in underrepresented populations for a better knowledge of the mutational profile leading to monogenic diseases.
Assuntos
Transportadores de Cassetes de Ligação de ATP , Genótipo , Degeneração Retiniana , Humanos , Transportadores de Cassetes de Ligação de ATP/genética , México , Masculino , Feminino , Degeneração Retiniana/genética , Criança , Mutação , Adulto , Adolescente , Pessoa de Meia-Idade , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Fenótipo , Pré-Escolar , Adulto Jovem , LinhagemRESUMO
BACKGROUND: Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. METHODS: Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken. RESULTS: A total of 126 patients were included. Cases were solved in 74.6% of the study's population. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). CONCLUSIONS: The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country.
Assuntos
Distrofias Retinianas , Retinose Pigmentar , Síndromes de Usher , Humanos , Mutação , México/epidemiologia , Distrofias Retinianas/epidemiologia , Distrofias Retinianas/genética , Retinose Pigmentar/genética , Linhagem , Transportadores de Cassetes de Ligação de ATP/genéticaRESUMO
BACKGROUND: Breast milk is irreplaceable for healthy development. In Mexico, by 2019, the prevalence of exclusive breastfeeding (EBF) was low and the use of breastmilk substitutes (BMSs) was high. OBJECTIVE: The aim of this work was to evaluate the maternal and child characteristics related to breastfeeding (BF) duration and to the introduction of BMSs for residents of Mexico City (CdMX) and an agricultural town in Morelos. METHODS: A cross-sectional study was conducted with 160 mother-child binomials (0-15 months of age) from the megacity CdMX and the agricultural town. OUTCOMES: EBF and total breastfeeding (TBF) duration, age of transition to BMSs, and the introduction of complementary feeding (CF) were assessed. Associations with maternal and infant factors were assessed using Cox models. RESULTS: The prevalence of EBF in the joint samples at 5.9 months was 32.6% and 5.8% at 6 months. EBF was favored under the following conditions: living in CdMX, receiving prenatal care, no newborn hospitalization, and breastmilk provided as first food at birth. TBF was prolonged under the following conditions: older mother, female children, rooming-in care during puerperium, receiving BF upon discharge after birth, cohabiting with extended family, and having no siblings. The introduction of BMSs predominated under the following conditions: living in an agricultural town, BMSs given after birth before discharge, younger mother, worker mother, and lack of prenatal care. The early introduction of CF (before the fourth month) was 2% for CdMX and 14% for the agricultural town. CONCLUSIONS: The agricultural population had a higher risk of the premature interruption of EBF/TBF and the early introduction of BMSs and CF. Protective factors were family-friendly environments and being born in a baby-friendly hospital.
Assuntos
Aleitamento Materno , Mães , Lactente , Gravidez , Feminino , Humanos , Estudos Transversais , México , Leite HumanoRESUMO
BACKGROUND: Retinoblastoma (Rb) most frequently presents as a unilateral sporadic disease up to 40% of cases, however, arise from a monoallelic germline pathogenic variant. Only 10% of the germline mutations are inherited, and high penetrance is seen in up to 90% of these cases. As an effort to optimize counseling and screening, mutations are classified according to inheritance patterns. However, RB1 spectrum is highly heterogeneous, and information for unaffected carriers remains scarce. MATERIALS AND METHODS: The Mexican family of a 5-month-old patient diagnosed with Rb was studied. The family consisted of five individuals (father, mother, and three siblings). Genetic testing using a next-generation sequencing assay targeting RB1 with oligonucleotide baits designed to capture its exons and 20 bases flanking intronic sequences was performed in every family member. Clinical history and a complete ophthalmological examination (best-corrected visual acuity, slit-lamp biomicroscopy, macular optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and electrophysiological studies) were performed in members testing positive to RB1 mutation. RESULTS: The father and her five-month-old daughter tested positive for a non-synonymous RB1 mutation c.459del (p.Lys154Serfs*21). The girl presented with bilateral retinoblastoma, successfully treated with cryotherapy and intravenous chemotherapy. The father had no relevant findings on imaging studies or ophthalmologic evaluation. CONCLUSIONS: This report describes a rare case of a novel low-penetrance RB1 germline mutation. Long-term follow-up of the father will include periodic evaluation of the eyes and orbits, and surveillance for systemic sarcoma and secondary malignancies. Implications for unaffected individuals need to be further studied.
Assuntos
Neoplasias da Retina , Retinoblastoma , Análise Mutacional de DNA , Éxons , Feminino , Mutação em Linhagem Germinativa , Humanos , Lactente , Masculino , Mutação , Penetrância , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/genética , Neoplasias da Retina/patologia , Retinoblastoma/diagnóstico , Retinoblastoma/genética , Retinoblastoma/patologia , Proteínas de Ligação a Retinoblastoma/genética , Ubiquitina-Proteína Ligases/genéticaRESUMO
KEY MESSAGE: PCD role in unisexual flowers. The developmental processes underlying the transition from hermaphroditism to unisexuality are key to understanding variation and evolution of floral structure and function. A detailed examination of the cytological and histological patterns involved in pollen and ovule development of staminate and pistillate flowers in the dioecious Opuntia robusta was undertaken, and the potential involvement of programmed cell death in the abortion of the sex whorls was explored. Flowers initiated development as hermaphrodites and became functionally unisexual by anthesis. Female individuals have pistillate flowers with a conspicuous stigma, functional ovary, collapsed stamens and no pollen grains. Male individuals have staminate flowers, with large yellow anthers, abundant pollen grains, underdeveloped stigma, style and an ovary that rarely produced ovules. In pistillate flowers, anther abortion resulted from the premature degradation of the tapetum by PCD, followed by irregular deposition of callose wall around the microsporocytes, and finally by microspore degradation. In staminate flowers, the stigma could support pollen germination; however, the ovaries were reduced, with evidence of placental arrest and ovule abortion through PCD, when ovules were present. We demonstrate that PCD is recruited in both pistillate and staminate flower development; however, it occurs at different times of floral development. This study contributes to the understanding of the nature of the O. robusta breeding system and identifies developmental landmarks that contribute to sexual determination in Cactaceae.
Assuntos
Apoptose , Opuntia/crescimento & desenvolvimento , Infertilidade das Plantas , Flores/crescimento & desenvolvimento , Flores/fisiologia , Opuntia/fisiologia , Óvulo Vegetal/crescimento & desenvolvimento , Óvulo Vegetal/fisiologia , Melhoramento Vegetal , Pólen/crescimento & desenvolvimento , Pólen/fisiologia , Polinização , ReproduçãoRESUMO
Severe congenital eye malformations, particularly microphthalmia and anophthalmia, are one of the main causes of visual handicap worldwide. They can arise from multifactorial, chromosomal, or monogenic factors and can be associated with extensive clinical variability. Genetic analysis of individuals with these defects has allowed the recognition of dozens of genes whose mutations lead to disruption of normal ocular embryonic development. Recent application of next generation sequencing (NGS) techniques for genetic screening of patients with congenital eye defects has greatly improved the recognition of monogenic cases. In this study, we applied clinical exome NGS to a group of 14 Mexican patients (including 7 familial and 7 sporadic cases) with microphthalmia and/or anophthalmia. Causal or likely causal pathogenic variants were demonstrated in ~60% (8 out of 14 patients) individuals. Seven out of 8 different identified mutations occurred in well-known microphthalmia/anophthalmia genes (OTX2, VSX2, MFRP, VSX1) or in genes associated with syndromes that include ocular defects (CHD7, COL4A1) (including two instances of CHD7 pathogenic variants). A single pathogenic variant was identified in PIEZO2, a gene that was not previously associated with isolated ocular defects. NGS efficiently identified the genetic etiology of microphthalmia/anophthalmia in ~60% of cases included in this cohort, the first from Mexican origin analyzed to date. The molecular defects identified through clinical exome sequencing in this study expands the phenotypic spectra of CHD7-associated disorders and implicate PIEZO2 as a candidate gene for major eye developmental defects.
Assuntos
Anoftalmia , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Canais Iônicos/genética , Microftalmia , Fenótipo , Adolescente , Adulto , Anoftalmia/genética , Anoftalmia/patologia , Criança , Feminino , Humanos , Lactente , Masculino , México , Microftalmia/genética , Microftalmia/patologiaRESUMO
BACKGROUND: In recognition that the availability of resources in the medical facility forms part of the factors that influence the quality of healthcare, it is of vital importance to measure their outcome. The aim of this study was determine the efficiency of the medical facility through the use of beds in a secondary level hospital. METHODS: Through the Health Information Management System (HIMS), we examined statistical reports from July 2012 to June 2013 including variables such as expenses, patient days, occupancy rate, average length of stay by specialty and medical division, results were obtained for each strategic indicator, and these results were related assumptions proposing to assess hospital efficiency. RESULTS: Overall, we identified optimal efficiency of the medical facility without analysis of services, leads to deteriorating and low efficiency. The overall outcome of the five indicators applied overlooked saturation of services within the medical unit. However, the overall analysis shows the problem, noting the advantage of evaluating the same scenario from different perspectives. CONCLUSIONS: The include indicators measuring hospital efficiency resource based bed, allows considering deficiencies identified, so that decision making is strengthened the decision making health.
Introducción: reconociendo que los recursos disponibles en las unidades médicas forman parte de los factores que condicionan la atención médica de calidad, resulta de importancia medir su aprovechamiento. El objetivo de este estudio fue determinar la eficiencia hospitalaria a través del recurso cama en un hospital de segundo nivel. Métodos: del Sistema de Información Médico Operativo, se examinaron los cuadros de salida mensuales de julio 2012 a junio 2013 que incluyen variables como egresos, días paciente, porcentaje de ocupación y promedio de días de estancia por especialidad y división, se obtuvieron los resultados por cada indicador estratégico y se relacionaron dichos resultados proponiendo supuestos para valorar la eficiencia hospitalaria. Resultados: de manera global, se identifica una óptima eficiencia hospitalaria, sin embargo el análisis por servicio y división señala una eficiencia deteriorada y baja. El resultado global de los cinco indicadores aplicados ignora la saturación de los servicios al interior de la unidad médica. Sin embargo, el análisis en conjunto revela dicha problemática, demostrando la ventaja de evaluar un mismo escenario desde diferentes perspectivas. Conclusiones: incluir indicadores que midan la eficiencia hospitalaria partiendo del recurso cama, permite considerar deficiencias no identificadas, con lo que se fortalece la toma de decisiones en salud.
Assuntos
Ocupação de Leitos/estatística & dados numéricos , Eficiência Organizacional/estatística & dados numéricos , Centros de Cuidados de Saúde Secundários/estatística & dados numéricos , Humanos , MéxicoRESUMO
INTRODUCTION: There are few articles on evaluation of Toxoplasma gondii serological tests. Besides, commercially available tests are not always useful and are expensive for studies in open population. The aim of this study was to evaluate in-house ELISA and western blot for IgG antibodies in a representative sample of people living in Mexico. METHODOLOGY: Three hundred and five serum samples were randomly selected from two national seroepidemiological survey banks; they were taken from men and women of all ages and from all areas of the country. ELISA cut-off was established using the mean plus three standard deviations of negative samples. Western blots were analysed by two experienced technicians and positivity was established according to the presence of at least three diagnostic bands. A commercial ELISA kit was used as a third test. Two reference standards were built up: one using concordant results of two assays leaving the evaluated test out and the other in which the evaluated test was included (IN) with at least two concordant results to define diagnosis. RESULTS: the lowest values of diagnostic parameters were obtained with the OUT reference standards: in-house ELISA had 96.9% sensitivity, 62.1% specificity, 49.6% PPV, 98.1% NPV and 71.8% accuracy, while western blot presented 81.8%, 89.7%, 84.0%, 88.2% and 86.6% values and the best kappa coefficient (0.72-0.82). CONCLUSIONS: The in-house ELISA is useful for screening people of Mexico, due to its high sensitivity, while western blot may be used to confirm diagnosis. These techniques might prove useful in other Latin American countries.
Assuntos
Anticorpos Antiprotozoários/sangue , Testes Diagnósticos de Rotina/métodos , Imunoglobulina G/sangue , Toxoplasma/imunologia , Toxoplasmose/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Western Blotting/métodos , Criança , Pré-Escolar , Ensaio de Imunoadsorção Enzimática/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , México , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Testes Sorológicos/métodos , Adulto JovemRESUMO
La Psicoprofilaxis Obstétrica es un proceso educativo para la preparación integral del varón y de la gestante, proporcionándole conocimientos, desarrollando habilidades, reforzando actitudes que le permitan desarrollar comportamientos saludables y una actitud positiva frente al embarazo, parto y puerperio, pero también el beneficio de la preparación de la pareja, dándole a conocer a este último su rol activo durante dichos procesos. Objetivos: Determinar el nivel de conocimiento sobre el embarazo, parto y puerperio del varón que asiste al programa de Psicoprofilaxis Obstétrica en el Instituto Nacional Materno Perinatal en el 2013. Diseño: Se realizó un estudio observacional, descriptivo y transversal. Metodología: Se aplicó el instrumento a 59acompañantes varones que asistieron a la última sesión de Psicoprofilaxis Obstétrica. La confiabilidad del instrumento fue dada con la prueba de Cronbach (0.76), mientras su validez se dio mediante juicio de expertos (91.4 por ciento), contando con la aprobación del personal del servicio de Psicoprofilaxis Obstétrica del Instituto Nacional Materno Perinatal, contándose además con el consentimiento de los participantes. Principales medidas de resultados: Nivel de conocimiento del acompañante. Resultados: Se pudo hallar que existe un nivel de conocimiento alto relacionado al embarazo en un 39 por ciento de los varones encuestados y en un 45.8 por ciento el nivel de conocimiento acerca del parto es medio mientras el 76.3 por ciento de acompañantes posee un nivel de conocimiento alto sobre puerperio. Conclusión: El nivel de conocimiento del acompañante varón sobre el embarazo, parto y puerperio que asiste al Programa de Psicoprofilaxis Obstétrica en el Instituto Nacional Materno Perinatal es medio en un 50.8 por ciento.
Assuntos
Masculino , Humanos , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Conhecimento , Cuidado Pré-Natal , Cônjuges , Gravidez , Parto , Período Pós-Parto , Saúde Materno-Infantil , Estudos Retrospectivos , Estudos TransversaisRESUMO
Este estudio se realizó con el objetivo de estandarizar la práctica educativa del personal de enfermería del pabellón Fundadores A del Hospital de San José de Bogotá con el paciente, acerca del cuidado en casa con la herida quirúrgica a través del diseño e implementación de un modelo educativo. El diseño metodológico utilizado fue investigación-acción, el cual permite la interrelación de apoyo y asesoría con la población del estudio, así como la generación de nuevos conocimientos al investigador y a los grupos participantes. Este fue un proceso dirigido por etapas. Primero se sensibilizó al personal de enfermería del pabellón Fundadores A,donde conocieron la importancia y la necesidad de implementar el modelo educativo. Con la participación del personal del estudio y del grupo investigador se diseñó el modelo, para seguir con el segundo paso del proceso que abrió el camino a la aplicación y evaluación del mismo. La aplicación del diseño fue considerada por el personal como una herramienta de trabajo que unifica conocimientos y actividades designadas. El resultado evidencia que el grupo no solo recibió los conocimientos del modelo sino que lo convirtieron en parte de su práctica diaria. En conclusión, el modelo educativo mejoró la práctica educativa del personal de enfermería con el paciente de cirugía, sobre los cuidados en casa con la herida quirúrgica. Esto se incluirá en el esquema de calidad que destaca a la institución.
Assuntos
Humanos , Educação Continuada em Enfermagem , Implementação de Plano de Saúde , Metodologia como Assunto , Serviços de Assistência DomiciliarRESUMO
Tuberculoid (TT) and lepromatous leprosy (LL) develop in the human host depending on his ability to trigger a specific cellular immune response(CIR). Different genes have been demonstrated in susceptibility/protection and may explain the forms of leprosy. The major histocompatibility complex (MHC) play an important role. The aim of the study was to explore the contribution of human leukocyte antigen (HLA) DRB1, DQA1, DQB1 and DQ promoter genes in LL Mexican patients. Six families (26 LL, three TT patients and 27 controls) were analyzed; 114 unrelated patients were compared with 204 controls. Class I typing was done by the standard microlymphocytotoxicity and class II typing using PCR-SSOP. Haplotype segregation correlated with specific CIR in vivo and in vitro using lepromin. Haplotype sharing was significantly deviated in the affected sibs (p=0.01). Six healthy sibs were non-responders to lepromin and four of them were DQ1 homozgotes. DQ1 was significantly associated with LL and with non-responders. We set up macrophage activation experiments after infecting these cells with 5x10(6) bacilli to demonstrate if elimination occurred in the context or DQ1. When DQ1 was present on macrophages and on T cells, bacteria were poorly eliminated from the cell (32%) while when absent, 76% of the individuals were able to eliminate the bacilli (p=0.03). DRB1*1501 DQA1*0102-DQB1*0602 (DQ1 subtype) was significantly increased in the patients, indicating its participation in susceptibility. QBP 5.11/5.12 promoter present in the mentioned haplotype, and QAP 1.4, linked to DRB1*1301/02 haplotypes were also associated. Two mechanisms are suggested: the promoter polymorphisms may influence allele expression and thus the amount of peptides presented to the T-cell receptor, leading to a deficient CIR: HLA restriction is important for vaccine design; the way peptides anchor the DRB1*1501 groove may be relevant to the activation of TH1 cells, which contribute to an efficient presentation of peptides inducing a protective T-cell response.
Assuntos
Vacinas Bacterianas , Genes MHC da Classe II , Predisposição Genética para Doença , Hanseníase/genética , Vacinas Sintéticas , Humanos , Hanseníase/prevenção & controleRESUMO
Se utilizó el Esquema de Diagnóstico Neuropsicológico de Ardila-Ostrosky-Canseco (2), el cual explora 9 áreas diferentes, pero en el presente estudio sólo se aplicaron las primeras seis: funsiones motoras, conocimiento somatosensorial, reconocimiento espacial y visoespacial, conocimiento auditivo y lenguaje, proceso congnoscitivos y lenguaje oral. Los resultados mostraron que el grupo analfabeta tuvo un mayor número de errores en todas las tareas evaluadas, que el grupo alfabetizado pero esta diferencia fue mayor en las primeras 4 secciones. Al comparar por edad a los sujetos del grupo analfabeta, éstos no mostraron diferencias significativas, por lo que se sugiere que las diferencias entre los dos grupos no se deben a esta variable. Al comparar las ejecuciones de cada uno de los reactivos entre el grupo analfabeta y el grupo alfabetizado, encontramos que las peores ejecuciones del grupo analfabeta fueron en los siguientes reactivos: a) funciones motoras: reproducción de posiciones (espejo), dibujo secuenciales (continuidad secuencial) y reacción de elección; b) reconocimiento visual y visoespacial: identificación de figuras enmascaradas, memoria visual y la reproducción de cubo; c) lenguaje oral: cierre de frases (conjunciones), frases subordinadas, interpretación prosódica y comprensión de la moraleja de un texto. En general, se observó un gradiente de ejecución caracterizado por más errores en las ejecuciones de medida que bajaba el nivel sociocultural y el nivel educativo de los sujetos. La discusión de los resultados se hizo considerando los factores del nivel sociocultural, la educación, las condiciones de vida y las diferencias entre uno y otro sexo. Se plantea la posibilidad de que todos estos factores influyan sobre la organización estructural y funcional del sistema nervioso y sobre la organización de las funciones psicológicas superiores
Assuntos
Adulto , Humanos , Feminino , Mulheres/educação , Mulheres/psicologia , Escolaridade , Atividade Motora , Desempenho Psicomotor , Testes NeuropsicológicosRESUMO
El estreptococo beta hemolítico del grupo B requiere de una identificación simple, oportuna y confiable que coadyuve a la atención médica de los pacientes. El objetivo de este estudio fue practicar la prueba rápida de CAMP en gota para la identificación presuntiva del microorganismo y compararla con el CAMP tradicional, así como con las pruebas específicas de coaglutinación y aglutinación en látex. De las cepas bacterianas beta hemolíticas, obtenidas de diversas fuentes: 26 fueron de estreptococco B, ocho de estreptococco A, cuatro de estreptococo D, dos de estreptococo C y nueve de L. monocytogenes. La concordancia entre las pruebas de CAMP fue absoluta para las cepas que dieron un resultado positivo (26 estreptococos B y nueve listerias). Las 14 cepas restantes con CAMP negativo pertenecieron a los otros estreptocóccicos señalados. Al valorar esta informacicón exclusivamente para el estreptococo B, en relación a las pruebas de identificación serológica (definitivas), la especificidad y la sensibilidad del CAMP en gota fueron del 100% con valor predictivo positivo de 1. En conclusión, esta prueba rápida constituye una alternativa eficiente y económica, al alcance de cualquier laboratorio bacteriológico, para lograr la identificación de Streptococcus agalatie