RESUMO
Objetivo: Identificar los determinantes sociales relacionados a la salud ocular en pobladores adultos de una comunidad de Ica 2022. Materiales y métodos: Se desarrolló una investigación con enfoque cuantitativo de corte transversal, correlacional, donde se incluyó una muestra de 108 pobladores adultos del sector de Santa Bárbara del distrito de Tinguiña en Ica, obtenida por muestreo probabilístico; utilizando dos instrumentos elaborados por las autoras, cada uno fue sometido a validación (p: 0.031) y prueba de confiabilidad (α=0.81; KR-20: 0.83). Resultados: Se identificó como factor biológico sexo femenino en 69.4%, la edad promedio fue de 51.84 ±15.56; el 75% no refiere antecedentes familiares, dentro de los estilos de vida el 94% se expone a una pantalla electrónica, el 65% consume alimentos que protegen la visión y el 62% no toma en cuenta la distancia e iluminación adecuada para la lectoescritura; el 91% refirió recibir una atención sanitaria inadecuada, el 71% afirma que su situación económica no les permite atender su salud, 80% no accede a una consulta oftalmológica, ni cubren su tratamiento; asimismo, el 94% de los pobladores no cuidan su salud ocular. Conclusión: Los determinantes sociales de la salud ocular identificados corresponden a la deficiente situación socioeconómica (rs = 0.212; p: 0.027); el ingreso familiar deficiente para la atención de salud (rs = 0.25; p: 0.009); no cubrir la consulta oftalmológica (rs = 0.24; p: 0.012); ni el tratamiento que esta genera (rs = 0.213; p: 0.02). (AU)
Objective: To identify the social determinants associated with eye health in adult residents of a community in Ica 2022. Materials and methods: An investigation with a cross-sectional quantitative approach was developed, correlational, which included a sample of 108adult residents of the Santa Bárbara sector of the Tinguiña district in Ica, obtained by probabilistic sampling; using two instruments developed by the authors, each one was subjected to validation (p: 0.031) and reliability test (α=0.81; KR-20: 0.83). Results: Female sex was identified as a biological factor in 69.4%, the average age was 51.84 ±15.56; 75% do not refer family history, within lifestyles, 94% are exposed to an electronic screen, 65% consume foods that protect vision; 65% consume foods that protect vision and 62% do not take into account the distance and adequate lighting for reading and writing; 91% reported receiving inadequate health care, 71% affirm that their economic situation does not allow them to take care of their health, 80% do not access an ophthalmological consultation, nor do they cover their treatment; Likewise, 94% of the inhabitants do not take care of their eye health. Conclusion: The social determinants of ocular health identified correspond to the deficient socioeconomic situation (rs = 0.212; p: 0.027); deficient family income for health care (rs = 0.25; p: 0.009) and does not cover ophthalmology consultation (rs = 0.24; p: 0.012); nor the treatment that it generates (rs = 0.213; p: 0.02). (AU)
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Fatores Socioeconômicos , Saúde Ocular , Determinantes Sociais da Saúde , Estilo de Vida , Estudos TransversaisRESUMO
Introducción: en Argentina la prevalencia de sobrepeso (SP)/ obesidad (O) en adultos alcanza el 33,8 y 14,8% respectivamente. Por ello se considera necesario avanzar en el conocimiento de aquellas situaciones que condicionan o inducen a estilos de vida (EV) no saludables como una medida de prevención de enfermedades vinculadas al estado nutricional. Objetivos: describir EV y su asociación con variables sociodemográficas y estado nutricional en personas adultas de Salta. Materiales y métodos: estudio descriptivo transversal, adultos (18/50 años), ambos sexos, muestreo no intencional. Se utilizó cuestionario Fantástico para categorizar EV (excelente, bueno, regular, malo y muy malo). Variables: estado nutricional (IMC: desnutrición, normal, sobrepeso, obesidad), nivel educativo, estado civil, residencia, trabajo. Análisis de datos: comparación de medias (ANOVA) y frecuencias (Chi2 y Fisher), p<0,05. Epi Info 6, SPSS versión 19. Resultados: se evaluaron 465 adultos, 70,8% mujeres, 29,2% varones. Edad media: 34,1 y 32,6 años respectivamente, residentes mayoritariamente en departamento Capital (85,4%). Estado civil: predominaron las personas solteras (54,2%) y el nivel educativo medio (49,9%). El 66% manifestó realizar alguna actividad laboral rentada. El 51% presentó EV "bueno", 25% "excelente", 17% "regular" 5% "malo", 0,2% "muy malo". La prevalencia de sobrepeso y obesidad fue de 30,6 y 20,0% con diferencias significativas según sexo. La relación estilos de vida/estado nutricional mostró predominio de las categorías "regular" y "malo" entre las personas con sobrepeso/ obesidad. Las personas con EV críticos mostraron valores de IMC más elevados; excelente: 24,64%, regular: 27,83%; muy malo: 31,14%; (p=0,000). Conclusiones: el estudio demuestra que existe una asociación significativa de orden negativo entre sobrepeso/obesidad y estilos de vida. Es recomendable fomentar conductas saludables como una manera de impactar positivamente en la disminución de la prevalencia de factores de riesgo asociados al estado nutricional.
Introduction: in Argentina, the prevalence of overweight/ obesity in adults is 34,8% and 14,8%, respectively. It is considered necessary to advance in the knowledge of those situations that influence or induce unhealthy lifestyle as a measure of prevention of the diseases related to nutritional status. Objectives: to describe lifestyles and their association with socio-demographic variables and nutritional status in adults from Salta. Material and methods: descriptive, cross-sectional study, in adults (18-50 years) both sexes. Unintentional sampling. The FANTASTIC questionnaire was used to categorize the lifestyles (excellent, good, regular, bad, very bad). Variables: nutritional status (BMI: malnutrition, normal, overweight, obese), educational level, marital status, residence, work. Data analysis: comparison of means (ANOVA) and frequencies (Chi2, Fisher), p <0,05. Epi Info 6 and SPSS version 19. Results: 465 adults, 70,8% female and 29,2% male, mean age 34,1 and 32,6 years, respectively, mostly residents in the Capital area (85,4%) were evaluated. Marital status: single people predominated (54,2%), and the average educational level (49,9%). 66% reported they perform some paid labor activity. 51,4% had ""good", 25,2% "excellent", 17,4% "regular" 5,8% "bad" and 0,2% "very bad". The prevalence of overweight and obesity was 30% and 20%, with significant differences according to sex. The Lifestyle/Nutritional Status relationship showed predominance in "regular" and "bad" categories among people with overweight/obesity. People with critical lifestyles showed higher BMI values; excellent: 24,64; regular: 27,83; very bad: 31,14; p=0,000). Conclusions: the study shows that there is a significant and negative association between overweight/obesity and lifestyles. Given this, it is advisable to encourage healthy behaviors as a way to positively impact on reducing the prevalence of risk factors associated with nutritional status.
Assuntos
Humanos , Estado Nutricional , Adulto , Estilo de VidaRESUMO
El consumo elevado de bebidas azucaradas se ha relacionado con mayor prevalencia de obesidad y hábitos de vida no saludables. Sus calorías, vacías de nutrientes, son elegidas por muchos consumidores, entre ellos adolescentes, constituyendo la mayor fuente de azúcares añadidos en sus dietas. La ingesta calórica resultante del consumo de estas bebidas es un factor que podría contribuir al aumento de peso entre los jóvenes. Objetivos: evaluar la prevalencia y asociación de factores nutricionales, socio-demográficos y hábitos de vida con consumo frecuente de bebidas azucaradas en adolescentes escolarizados de Salta (2008-2009). Metodología: estudio transversal. Muestreo probabilístico de escuelas de nivel medio. Valoración antropométrica, cuestionario de frecuencia de consumo de alimentos y hábitos de vida a adolescentes del último curso (16-20 años). Análisis estadístico: distribución de frecuencias, chi2. Regresión logística multivariada (OR, p< 0,05). SPSS19, EPI-INFO.Resultados: se evaluaron 659 adolescentes; 73,7% consumía bebidas azucaradas en forma frecuente (>3 veces/semana), 42,8% no realizaba actividad física. La prevalencia de sobrepeso/obesidad fue de 13,8 y 3,9 %. El consumo de bebidas azucaradas se asoció a familias de bajos ingresos (OR 1.63), al consumo frecuente de golosinas (OR 2.26) y la falta de actividad física (OR 2.24). No se asoció con el estado nutricional. Conclusiones: se observa consumo elevado de bebidas azucaradas, asociado a hábitos de vida no saludables y familias de bajos ingresos. Es imperativo aplicar estrategias de salud pública, como la educación sobre la ingesta de bebidas y su reemplazo por líquidos más saludables.
The high consumption of sweetened beverages has beenlinked to increased prevalence of obesity and unhealthy living habits. Their calories, nutrient de cient, are chosen by many consumers, including adolescents, constituting the largest source of added sugars in their diets. The resulting caloric intake from consumption of these drinks is a factor that may contribute to weight gain among young adults.Objective: to evaluate the prevalence and association of nutritional, socio- demographic and lifestyle factors with frequent consumption of sugar-sweetened beverages among adolescent students of the last course (2008-2009). Methods: cross-sectional study. Probability sampling of high schools. Anthropometric evaluation, frequency questionnaire and food consumption habits of last year teenagers (16-20 years). Statistical analysis: frequency distribution, chi2. Multivariate logistic regression (OR, p < 0,05).SPSS 19. EPIINFO. Results: 659 adolescents were evaluated, 73,7% consumed sugary drinks frequently (> 3times/week), 42,8% did not perform physical activity. The prevalence of overweight / obesity was 13,8% and 3,9%. Consumption of sweetened beverages was associated with low-income families (OR 1.63), frequent consumption of sweets (OR 2.26) and lack of physical activity (OR 2.24). It was not associated with the nutritional status. Conclusion: High consumption of sugar-sweetened beveragesis associated with unhealthy life habits and low-income families. It is imperative to implement public health strategies, such as education about beverage intake and replacing them with healthier liquids.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Fenômenos Fisiológicos da Nutrição do Adolescente , Bebidas/estatística & dados numéricos , Doces/efeitos adversos , Escolaridade , Política Nutricional , Obesidade/epidemiologia , Açúcares , Argentina , Ensino Fundamental e Médio , Estudos Transversais/normas , Comportamentos Relacionados com a SaúdeRESUMO
Conocer estilos de vida/hábitos alimentarios de adolescentes escolarizados de zonas urbanas y rural es estableciendo similitudes/diferencias. MÉTODOS: Estudio descriptivo, transversal. Población: jóvenes 14-19 años, ambos sexos, de 3 escuelas públicas urbanas y 2 rurales; nivel polimodal, jornada simple. Selección: muestreo simple al azar por conveniencia. Instrumentos: cuestionario FANTÁSTICO (escala Likert), adecuado/validado por encuesta piloto (Alpha Crombach: 0,6458). Procesamiento: programa Epi Info 6.0. Distribución de frecuencias, medidas de tendencia central, ji cuadrado, significación menor al 5% (p< 0,05). RESULTADOS: En ambos grupos; Estilos de vida Buenos, Hábitos alimentarios adecuados en consumo deleche, carnes, frutas y verduras. No desayunan: 24%. Al efectuar la comparación entre áreas urbanas y rurales se observó: actividad física inadecuada: 42.7% y 44.2%; sedentarismo: 11.6% y 8.1%; consumo frecuente de alcohol: 11.6% y 7.7% y consumo de tabaco: 34.9% y 22.7%; respectivamente. CONCLUSIONES: Los adolescentes urbanos están más expuestos a factores de riesgo cardiovascular por un mayor consumo de alcohol, tabaquismo, y actividad física inadecuada.
To know the lifestyles and eating habits ofschool-going adolescents from urban and rural areas byestablishing similarities and differences.METHODS: Descriptive, cross-sectional study. Population:male and female adolescents aged between 14 and 19 yearswho attended polimodal level at half-day public schools (3urban and 2 rural schools). Selection: convenience, simplerandom sampling.Instruments: FANTASTIC questionnaire (Likert scale), which was validated by a pilot survey (Cronbachs Alpha: 0,6458).Processing: Epi Info 6.0 program, frequency distribution,measures of central tendency, Chi-square test, significance level lower than 5% (p < 0.05). RESULTS: In both groups, the lifestyle was Good and theeating habits were Adequate in terms of milk, meat, fruitsand vegetables consumption, but 24% of the participantsskipped breakfast.The comparison between urban versus rural areas showed the following results: inadequate physical activity, 42.7% and 44.2%; sedentary lifestyle, 11.6% and 8.1%; frequent consumption of alcohol, 11.6% and 7.7% and tobacco use,34.9% and 22.7%, respectively. CONCLUSIONS: Adolescents from urban areas are more susceptible to risk factors for cardiovascular diseases due to the increased consumption of alcohol and tobacco, and inadequate physical activity.
OBJETIVO: Conhecer estilos de vida/hábitos alimentícios de adolescentes escolarizados de zonas urbanas e rurais estabelecendo similaridades/diferenças. MÉTODOS: Estudo descritivo, transversal. População: jovens 14-19 anos, ambos os sexos, de 3 escolas públicas urbanas e 2 rurais; ensino médio, meio período. Seleção: amostragem simples aleatória por conveniência. Instrumentos: questionário FANTÁSTICO (escala Likert), adequado/validado pela pesquisa piloto (AlphaCrombach: 0,6458). Processamento: programa Epi Info 6.0. Distribuição de frequências, medidas de tendência central, chi-quadrado, significância menor a 5% (p< 0,05). RESULTADOS: Em ambos os grupos; Estilo de vidaBons, Hábitos alimentícios adequados em consumo de leite, carnes, frutas e verduras. Não tomam café da manhã: 24%. Ao realizar a comparação entre áreas urbanas e rurais observou-se: atividade física inadequada: 42.7% e 44.2%; sedentarismo: 11,6% e 8,1%; consumo frequente de álcool:11.6% e 7.7% e consumo de tabaco: 34.9% e 22.7%; respectivamente. CONCLUSÕES: Os adolescentes urbanos estão mais expostos a fatores de risco cardiovascular devido a um maior consumo de álcool, tabagismo, e atividade física inadequada.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adolescente , Doenças Cardiovasculares , Comportamento AlimentarRESUMO
OBJECTIVE: To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation. METHODS: We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient. RESULTS: An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone thelarche, adrenarche, and menarche. Blood pressure was 155/90 mm Hg, she had no axillary or pubic hair, breasts were Tanner stage 1, and female genitalia were Tanner stage 1. Further laboratory studies showed hypokalemia with metabolic alkalosis, hypergonadotropic hypogonadism, a 46, XY karyotype, a low 17-hydroxyprogesterone level, and a high deoxycorticosterone level. Sequencing of the CYP17A1 gene demonstrated homozygous transversion of cytosine to adenine (TCAâTAA) in exon 5, which causes a premature stop codon at position 288 (Ser288X). Imaging studies showed large adrenal glands, cystic picture in the inguinal canal (suggestive of intra-abdominal testes), and absent Müllerian structures. Exploratory laparotomy was performed to remove the remaining gonads, and the final histologic examination showed atrophic testes. CONCLUSIONS: Congenital adrenal hyperplasia due to CYP17 deficiency should be suspected in patients with hypertension, hypokalemic alkalosis, and hypogonadism. In such cases, it is mandatory to assess the karyotype and perform hormonal and molecular genetic studies.
Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Esteroide 17-alfa-Hidroxilase/genética , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/genética , Hiperplasia Suprarrenal Congênita/cirurgia , Feminino , Humanos , Cariotipagem , Mutação , RadiografiaRESUMO
BACKGROUND AND AIMS: Rhabdomyosarcoma (RMS) is a pediatric tumor whose classification is based on histological criteria according to two main subgroups, embryonal RMS (ERMS) and alveolar RMS (ARMS). The majority but not all ARMS carry the specific PAX3(7)/FKHR translocation. The type of translocation in patients with ARMS defines the prognosis. METHODS: We retrospectively analyzed 30 cases of ARMS in Mexican patients and evaluated the fusion status of the genes using RT-PCR and fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded tissues (FFPET). RESULTS: From 25 samples (83%) with optimal RNA quality, RT-PCR revealed 15 cases (50%) with the t(2;13)/PAX3-FKHR. Only one case (3%) was positive to t(1;13)/PAX7-FKHR and nine cases (30%) were fusion-negative. Correspondingly, using FISH, the t(2;13)/PAX3-FKHR was found positive in 19 cases (63.5%), one case (3%) revealed the t(1;13)/PAX7/FKHR and ten cases (33.5%) were fusion-negative by this method. Five cases were not evaluable by RT-PCR but recovered by FISH. Only four of the total revealed t(2;13); the other was fusion-negative. CONCLUSIONS: FISH technique is more sensitive when FFPET is used to describe the chromosomal translocation of ARMS. These Latino patients showed an association of the t(2;13) in older patients (mean: 9 years) and negative translocation in younger patients (mean: 4 years) (p <0.05). Both t(2;13) and negative-fusion were present in patients with clinical stages III and IV (p <0.05). There was a nonsignificant trend of t(2;13) to lower overall survival than negative-fusion status.
Assuntos
Hibridização in Situ Fluorescente/métodos , Proteínas Recombinantes de Fusão/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Rabdomiossarcoma/genética , Criança , Formaldeído , Humanos , Estimativa de Kaplan-Meier , México , Inclusão em Parafina , Estudos Retrospectivos , Rabdomiossarcoma/classificação , Rabdomiossarcoma/mortalidade , Rabdomiossarcoma/patologiaRESUMO
There are limited data on mitochondrial DNA (mtDNA) variation in the Mexican mestizo population. To examine the genetic diversity and matrilineal ancestry, the full mtDNA hypervariable regions I and II were sequenced in 270 unrelated mestizos from different regions of Mexico. A total of 202 different haplotypes were identified and the haplotype diversity was 0.9945. Amerindian haplotypes predominated in the sample with a proportion of 93.3%, followed by European (6.0%) and African haplotypes (0.7%). The frequency of the Amerindian haplogroups A2, B2, C1 and D1 was 51.1, 17.8, 18.5 and 5.9%, respectively. The frequency of Amerindian haplogroups was higher in the central region than in Mexico City, whereas it was the contrary for European haplogroups. This difference was accounted principally by the high frequency of B2 haplotypes in the central region. The minimum spanning network, the mismatch distribution and Tajima's D neutrality test suggest a population expansion for each Amerindian haplogroup, which could be initiated more recently for haplogroups A2 and D1. The present knowledge combined with other nuclear genetic markers will be essential in future association studies to correct for genetic substructure in mestizo populations.
Assuntos
DNA Mitocondrial/genética , Variação Genética , Haplótipos , Indígenas Norte-Americanos/genética , População Negra/genética , DNA Mitocondrial/química , DNA Mitocondrial/classificação , Frequência do Gene , Genética Populacional , Geografia , Humanos , México , Filogenia , Análise de Sequência de DNA , População Branca/genéticaRESUMO
17alpha-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. This condition shows considerable clinical and biochemical variation. Molecular characterization of novel mutations in the CYP17A1 gene and detailed study of their structural, enzymatic, and clinical consequences are required to fully understand enzyme behavior. Here, we present the first molecular characterization of two novel mutations in CYP17A1 in a 15-year-old female Mexican mestizo 46,XY female with primary amenorrhea and lack of pubertal development and severe hypertension that manifested only after surgery. A complete clinical and biochemical evaluation was compatible with 17OHD. Structural anomalies in the CYP17A1 gene were discovered by direct automated sequencing, which revealed a novel compound heterozygous K110X/R362H mutation that leads to a complete lack of enzyme activity. Immunohistochemical analyses performed to determine protein expression and localization showed that cytochrome P450 17A1 was completely absent in the patient's testicular tissue. Studies of novel mutations, such as those described here, provide important information that allows us to better understand the effect of a given mutation on enzyme function and to observe the impact of the mutation on clinical phenotype.
Assuntos
Hiperplasia Suprarrenal Congênita/enzimologia , Mutação , Esteroide 17-alfa-Hidroxilase/genética , Acantose Nigricans/diagnóstico , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Hormônio Adrenocorticotrópico , Sequência de Bases , DNA/sangue , DNA/química , Estradiol/sangue , Hormônio Foliculoestimulante/sangue , Disgenesia Gonadal/enzimologia , Disgenesia Gonadal/genética , Heterozigoto , Humanos , Hidrocortisona/sangue , Hormônio Luteinizante/sangue , Masculino , Fenótipo , Puberdade , Testículo/enzimologia , Testosterona/sangueRESUMO
Gonadoblastoma (GB) is an in situ tumor consisting of a heterogeneous population of mature and immature germ cells, other cells resembling immature Sertoli/granulosa cells, and Leydig/lutein-like cells, may also be present. GB almost exclusively affects a subset of patients with intersex disorders and in 30% of them overgrowth of the germinal component of the tumor is observed and the lesion is term dysgerminoma/seminoma. Several pathways have been proposed to explain the malignant process, and abnormal OCT3/4 expression is the most robust risk factor for malignant transformation. Some authors have suggested that OCT3/4 and beta-catenin might both be involved in the same oncogenic pathway, as both genes are master regulators of cell differentiation and, overexpression of either gene may result in cancer development. The mechanism by which beta-catenin participates in GB transformation is not completely clear and exploration of the E-cadherin pathway did not conclusively show that this pathway participated in the molecular pathogenesis of GB. Here we analyze seven patients with mixed gonadal dysgenesis and GB, in an effort to elucidate the participation of beta-catenin and E-cadherin, as well as OCT3/4, in the oncogenic pathways involved in the transformation of GB into seminoma/dysgerminoma. We conclude that the proliferation of immature germ cells in GB may be due to an interaction between OCT3/4 and accumulated beta-catenin in the nuclei of the immature germ cells.
Assuntos
Caderinas/fisiologia , Disgerminoma/etiologia , Disgenesia Gonadal Mista/complicações , Gonadoblastoma/etiologia , Fator 3 de Transcrição de Octâmero/fisiologia , Neoplasias Ovarianas/etiologia , Neoplasias Testiculares/complicações , beta Catenina/fisiologia , Adolescente , Transformação Celular Neoplásica , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Lactente , MasculinoRESUMO
PURPOSE: To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND). METHODS: We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan. RESULTS: Two molecular defects found in the NDP gene were: a missense mutation (265C > G) within codon 97 that resulted in the interchange of arginine by proline, and a partial deletion in the untranslated 3' region of exon 3 of the NDP gene. Clinical findings were more severe in the family that presented the partial deletion. We also diagnosed the carrier status of one daughter through GeneScan; this method proved to be a useful tool for establishing female carriers of ND. CONCLUSION: Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.
Assuntos
Cegueira/congênito , Proteínas do Olho/genética , Perda Auditiva Neurossensorial/genética , Deficiências da Aprendizagem/genética , Mutação de Sentido Incorreto , Proteínas do Tecido Nervoso/genética , Deleção de Sequência , Criança , Pré-Escolar , Análise Mutacional de DNA , Saúde da Família , Feminino , Triagem de Portadores Genéticos , Heterozigoto , Humanos , Masculino , Biologia Molecular , Linhagem , Reação em Cadeia da Polimerase , Retina/anormalidadesRESUMO
We report a Mexican boy with isolated ectrodactyly (split hand malformation) in whom a new mutation was identified in exon 3 of the TP63 gene. In contrast to previously reported patients with isolated split hand/foot anomaly and mutations in the DNA binding domain of Tp63, the mutation described herein induce an amino acid substitution (R97C) in the canonical transactivation (TA) domain. To our knowledge, this is the first naturally occurring mutation described so far in this part of the protein. Based on the genotype-phenotype correlation observed in our patient, we hypothesize that integrity of the TA domain of Tp63 is critical for normal limb development.
Assuntos
Deformidades Congênitas da Mão/genética , Mutação de Sentido Incorreto , Fosfoproteínas/genética , Transativadores/genética , Sequência de Bases , Sítios de Ligação/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Proteínas de Ligação a DNA , Genes Supressores de Tumor , Deformidades Congênitas da Mão/patologia , Heterozigoto , Humanos , Lactente , Masculino , Fatores de Transcrição , Ativação Transcricional/genética , Proteínas Supressoras de TumorRESUMO
Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.
Assuntos
Cromossomos Humanos Y/genética , Disgenesia Gonadal Mista/genética , Gonadoblastoma/patologia , Neoplasias Ovarianas/patologia , Neoplasias Testiculares/patologia , Testículo/anormalidades , Adolescente , Pré-Escolar , Feminino , Disgenesia Gonadal Mista/patologia , Gonadoblastoma/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Neoplasias Ovarianas/genética , Neoplasias Testiculares/genéticaRESUMO
In the year 2002, the population of Mexico was approaching 103 million inhabitants. Approximately 74% of them live in the cities with a continuous migration from rural to urban areas. Genetic departments are concentrated in the capital and other big cities. In this paper we review the current status of genetic departments in Mexico City, emphasizing the main areas of genetic services offered to the public and involved in research. We also comment on the deficiencies identified and suggest recommendations to improve the quality of the genetic services offered to the Mexican population.
Assuntos
Serviços em Genética/organização & administração , Anormalidades Congênitas/prevenção & controle , Atenção à Saúde/organização & administração , Atenção à Saúde/normas , Doenças Genéticas Inatas/prevenção & controle , Serviços em Genética/ética , Serviços em Genética/normas , Ocupações em Saúde/educação , Humanos , MéxicoRESUMO
The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical genetics; (b) the conduct of epidemiological research on the prevalence and types of birth defects, genetic disorders and genetic predispositions to common diseases; (c) the education of health professionals in genetics; (d) the education of genetic professionals in community health and public health genetics; (e) the fostering of interactions between clinical geneticists, public health personnel, primary health care workers and community organizations, and (f) a better planning of regionalized services to avoid duplication and inefficiency.
Assuntos
Serviços em Genética/normas , Genética Médica/normas , Guias como Assunto , Organização Mundial da Saúde , Redes Comunitárias , Serviços em Genética/organização & administração , Técnicas Genéticas , Testes Genéticos , Genética Médica/organização & administração , Humanos , América LatinaRESUMO
Sex differentiation in humans depends on the presence of the Y-linked gene SRY, which is activated in the pre-Sertoli cells of the developing gonadal primordium to trigger testicular differentiation. Occasionally testicular formation can take place in subjects lacking a Y chromosome resulting in a 46,XX sex reversal condition. True hermaphroditism (TH) is a rare form of intersexuality characterized by the presence of testicular and ovarian tissue in the same individual. Genetic heterogeneity has been proposed as a cause of dual gonadal development in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients. Here we report a TH case in which hidden mosaicism for the Y and X chromosome was detected by PCR and FISH in peripheral blood and gonadal tissue, supporting the fact that mosaicism may cause TH and that molecular analysis of gonadal tissue should be performed in all 46,XX cases.
Assuntos
Deleção Cromossômica , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Transtornos do Desenvolvimento Sexual/genética , Mosaicismo , Aberrações dos Cromossomos Sexuais , Criança , Feminino , Genes sry/genética , Genitália Feminina/anormalidades , Genitália Feminina/cirurgia , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Testículo/anormalidades , Testículo/cirurgiaRESUMO
We report on 9 confirmed cases of tinea imbricata (Tokelau, infection due to Trichophyton concentricum) out of 16 family members. They had a common mother with three different fathers. The genetic analysis of the family suggests an autosomal dominant pattern of susceptibility. Most cases (8/9) were presented as concentric and lamellar forms. One patient also had onychomycosis due to T. concentricum. Only two out of nine cases had a positive response to trichophytin.
Assuntos
Família , Genes Dominantes , Predisposição Genética para Doença , Casamento , Grupos Populacionais , Tinha/genética , Trichophyton , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Linhagem , Tinha/microbiologiaRESUMO
INTRODUCTION: Müllerian agenesis, also named the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or vaginal aplasia, is the second most common cause of primary amenorrhea. It is characterized by the congenital absence of the Müllerian structures including the Fallopian tubes, the uterus, and the internal portion of the vagina in an otherwise normally feminized 46,XX subject. Most cases are sporadic in inheritance, but the occurrence of some patients with chromosomal translocations or even familial aggregates suggest a genetic basis for the disease, although the etiology of the disease is still unknown. It has been suggested that activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect. METHODS: In this study we describe the molecular analysis of both the AMH and AMHR genes in a group of 15 patients with Müllerian agenesis. After sequencing all exons and exon/intron junctions of both genes, we were not able to detect any deleterious mutation. RESULTS: Five new polymorphisms, 2 of them in the AMHRII gene and 3 of them in the AMH gene, were identified. No significant differences between patients and controls were observed in the frequency of a given polymorphism. CONCLUSION: This work reinforces the view that molecular defects in the AMH or AMHR are unlikely sources for the MRKHS syndrome.
Assuntos
Transtornos do Desenvolvimento Sexual/genética , Ductos Paramesonéfricos/anormalidades , Hormônio Antimülleriano , Estudos de Casos e Controles , Feminino , Glicoproteínas/genética , Humanos , Polimorfismo Genético , Receptores de Peptídeos/genética , Receptores de Fatores de Crescimento Transformadores beta , Síndrome , Hormônios Testiculares/genética , UTP-Hexose-1-Fosfato Uridililtransferase/genéticaRESUMO
True hermaphroditism (TH) is an unusual form of sex reversal, characterized by the development of testicular and ovarian tissue in the same subject. Approximately 60% of the patients have a 46,XX karyotype, 33% are mosaics with a second cell line containing a Y chromosome, while the remaining 7% are 46,XY. Molecular analyses have demonstrated that SRY is present in only 10% of TH with a 46,XX karyotype; therefore, in the remaining 90%, mutations at unknown X-linked or autosomal sex determining loci have been proposed as factors responsible for testicular development. True hermaphroditism presents considerable genetic heterogeneity with several molecular anomalies leading to the dual gonadal development as SRY point mutations or SRY hidden gonadal mosaicism. In order to identify genetic defects associated with subjects with the disease, we performed molecular analyses of the SRY gene in DNA from blood leukocytes and gonadal tissue in 12 true hermaphrodites with different karyotypes. Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites.
Assuntos
Cromossomos Humanos Y/genética , Transtornos do Desenvolvimento Sexual/genética , Genes sry , Mosaicismo , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Reação em Cadeia da Polimerase , Diferenciação Sexual/genéticaRESUMO
Es bastante lo que se ha estudiado sobre la influencia del medio ambiente desfavorable en las posibilidades de crecimiento y desarrollo infantil, por ello éste trabajo tiene como objetivo visualizar si en un medio socio-económico adverso, los escolares que padecen desnutrición responden de igual manera al proceso de enseñanza-aprendizaje que los niños normonutridos del mismo medio. De un estudio antropométrico, se obtuvo la población con déficit nutricional según parámetros de peso/edad, considerando como déficit a todo escolar que tuviere -10 por ciento de adecuación a la mediana según tablas del National Center For Health Statistics (NCHS); como grupo experimental, se tomó al azar un N=de 20 niños desnutridos, de 5 a 10 años y como grupo control, igual N de escolares de la misma escuela con valores normales en peso/talla, peso/edad y talla/edad. Se aplicaron encuestas personalizadas a los maestros para evalar la respuesta de los escolares al proceso de enseñanza - aprendizaje. Contenían las siguientes variables: participación en clase, atención, manifestación de fatiga, conductas socializadoras, aptitudes preponderantes por áreas. La encuesta socioeconómica conteniendo datos de vivienda, educación, ocupación y composición del grupo familiar se realizó en el domicilio de los escolares. En el grupo experimental se observó mayor manifestación de fatiga (P menor o igual 0.007), y menor capacidad de atención en clase (P menor o igual 2), los escolares desnutridos se destacan en aptitudes artísticas y los normonutridos en capacidad de razonamiento. Se infiere que los niños malnutridos tienen disminuídas sus posibilidades de respuestas al proceso de enseñanza-aprendizaje en relación a los normonutridos, aunque el desarrollo de las potencialidades de estos últimos, está condicionado también por el medio socioeconómico al que pertenecen.