RESUMO

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Assuntos

Craniossinostoses , Sequência de Bases , Criança , Craniossinostoses/genética , Estudos Transversais , Proteínas de Ligação a DNA/genética , Família , Humanos , Mutação de Sentido Incorreto/genética , Fatores de Transcrição/genética

RESUMO

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Assuntos

Humanos , Criança , Craniossinostoses/genética , Fatores de Transcrição/genética , Sequência de Bases , Família , Estudos Transversais , Mutação de Sentido Incorreto/genética , Proteínas de Ligação a DNA/genética

RESUMO

Estuaries are highly productive ecosystems, defined by salt-freshwater exchanges that are significantly altered by changes upstream and in adjacent coastal areas. Tropical estuaries are characterized by the periodic advance and retreat of saline intrusion, depending on seasonality, episodic river flows and flooding events. Salt-water intrusion due to the estuarine dynamics might be affected by dam systems, which could modify the hydrological regime of the estuary in relation to other stressors, such as land use changes. For this purpose, field measurements of salinity, temperature, river-discharge and flow velocities were conducted over a year to analyze the current hydrological regime in the upper estuary of the Grijalva River in the southern Gulf of Mexico, part of the Biosphere Reserve "Pantanos de Centla", one of the most biodiverse areas in the world. Analysis of land use and vegetation cover was performed. Historical implications of the hydrological performance of the four-dam system (1957 to 2014) are presented, together with the upstream-induced changes (i.e. discharge and seasonal water volumes variations): before, between and after the full operation of the dam system. A general loss of seasonality in the river discharge was identified (1974-1987), when critical mean annual water discharges were registered (Qmean from 263.56 to 126.49 m3/s). Chronological changes in the estuary and in the surrounding area due to the introduction of large extensions of cultivated grassland (~1020 km2), reduction in mangrove cover (~223 km2) and tular (~1340 km2) were noticed. These modifications mostly occurred before conservation strategies were implemented, such as the designation of the Biosphere Reserve (1992). This study contributes to a better understanding of the response of estuarine systems to anthropic perturbations and the development of long-term management plans that could take into account climate change and the increase of hydropower development.

RESUMO

It is known that certain lactic acid bacterial (LAB) strains can produce folates, a B-group vitamin that cannot be synthesized by humans and must be exogenously obtained. The aim of this study was to select folate-producing LAB and evaluate their probiotic characteristics in order to obtain a tuber-based food with elevated folate content. Several LAB strains were isolated from a traditional Andean fermented potato product tocosh and cultured in folate-free culture medium. Five folate-producing strains (29-138 ng/mL) were selected to ferment three Andean tubers (potato S. tuberosum spp. andigena, oca Oxalis tuberosa and papalisa Ullucus tuberosus). Sterile purees were inoculated and samples were collected at 0, 6 and 24 h of fermentation and after 28 days of cold storage. Cell growth, pH and total folate were determined. All selected strains were able to grow and produce folates in the substrates and two Lactobacillus sakei strains, CRL 2209 and CRL 2210, produced the highest folate concentrations (730-1484 ng/g after 24 h fermentation). These strains were selected to ferment potato substrates supplemented with amaranth (Amaranthus caudathus) and chia (Salvia hispanica) flour to increase the nutritional value. This addition increased folate synthesis in 89-95%. Furthermore, the ability to survive under simulated gastrointestinal conditions was evaluated and cell counts of the 5 strains remained above the recommended for a probiotic candidate (8.0 log CFU/mL). In conclusion, the selected LAB could be considered potentially probiotic strains and could be used to produce novel tuber based products with elevated folate concentrations. These products could also be used as novel food matrixes for the delivery of probiotic microorganisms.

Assuntos

Ácido Fólico/análise , Lactobacillales/metabolismo , Probióticos/metabolismo , Solanum tuberosum/metabolismo , Solanum tuberosum/microbiologia , Fermentação , Ácido Fólico/metabolismo , Tecnologia de Alimentos , Modelos Biológicos , Tubérculos

RESUMO

AIM: To establish risk factors for seizure recurrence and short term Engel classification after surgery for mesial temporal sclerosis (MTS). PATIENTS AND METHODS: Nested case-control study in a cohort of patients diagnosed with MTS by magnetic resonance imaging and who had at least two years of postsurgical follow-up; patients with bilateral MTS were excluded. Clinical characteristics, epileptogenic focus in video-electroencefalography (video-EEG) and surgical issues were evaluated regarding to seizure recurrence during the first two postsurgical years and Engel classification in the first and second anniversary after surgery. RESULTS: From October 2001 to June 2008, 144 patients with MTS were evaluated as candidates for epilepsy surgery; until June 2007, 89 patients underwent epilepsy surgery, 51.7% with left MTS. 35.8% of patients experienced seizure recurrence before two post-surgical years; presurgical risk factor associated to this recurrence was bitemporal focus or single temporal focus with contralateral dissemination by video-EEG (odds ratio = 6.32; 95% confidence interval = 1.64-26.41); and post-surgical, seizures that occurred in the first month of surgery (p = 0004). No association with seizure recurrence was found with gender, presurgical tonic-clonic seizures, MTS side and epilepsy duration. 66.3% and 75.8% of patients were Engel I classified in the first and second anniversary after surgery, respectively. 91% of operated patients showed a good outcome after two years of epilepsy surgery. CONCLUSION: Epileptogenic focus location by electrophysiology is a fundamental factor in short term outcome after surgery for MTS.

Assuntos

Epilepsia do Lobo Temporal , Epilepsia , Esclerose , Convulsões , Adolescente , Adulto , Epilepsia/fisiopatologia , Epilepsia/cirurgia , Epilepsia do Lobo Temporal/patologia , Epilepsia do Lobo Temporal/cirurgia , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Esclerose/patologia , Esclerose/fisiopatologia , Esclerose/cirurgia , Convulsões/fisiopatologia , Convulsões/cirurgia , Resultado do Tratamento , Adulto Jovem

RESUMO

INTRODUCTION: Linkage analyses provide strong evidence of how genetic factors influence epilepsy, due to the fact that they involve the determination of the cosegregation of specific marker alleles with epilepsy within families. AIMS: Our aim was to determine whether there was some kind of propensity to develop generalised idiopathic epilepsy (GIE) in the 15q22.1-q25.1 region in an extended multigenerational family from the Paisa de Antioquia community, which is a genetic isolate located in Colombia that segregates for GIE and has a strong capacity to detect linkage. PATIENTS AND METHODS: We selected a family containing a number of individuals suffering from epilepsy who visited the Antioquia Neurological Institute. Each affected individual had to have been diagnosed by a neurologist as suffering from non-myoclonic idiopathic epilepsy or from partial idiopathic epilepsy. All patients suspected of suffering from idiopathic epilepsy were submitted to video monitoring in order to characterise seizures electroencephalographically. RESULTS: Of the 106 individuals in this family who were included in the family tree, 76 were genotyped; 15 of them suffered from generalised clonic tonic seizures and six were considered as being possibly affected. Lod score results were significantly negative for all the markers in relation to each of the models under consideration. CONCLUSIONS: The possibility of the genes that code for the a-3, a-5 and b-4 subunits of the neuronal nicotinic acetylcholine receptor (CHRNA3, CHRNA5 and CHRNB4) situated in the 15q region being responsible for the familial aggregation of GIE in this family, as has been suggested in previous studies in other families, was ruled out.

Assuntos

Cromossomos Humanos Par 15 , Epilepsia/genética , Ligação Genética , Predisposição Genética para Doença , Colômbia , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Humanos , Escore Lod , Linhagem , Receptores Nicotínicos/genética

RESUMO

INTRODUCTION: Linkage analyses enable us to identify the loci that bestow susceptibility to certain diseases which are assumed to have a genetic aetiology by determining the cosegregation of alleles of specific markers within families. AIMS: The aim of this study was to determine whether there is generalised idiopathic epilepsy (GIE) susceptibility in the 8q22.1 -q24.23, 16p13.3 and 21q22.3 regions within an extended multigenerational family belonging to the Paisa community in Antioquia, a genetic isolate located in Colombia segregating for GIE with a strong capacity for detecting linkage. PATIENTS AND METHODS: A family with a number of individuals affected by idiopathic epilepsy who visited the Instituto Neurológico de Antioquia was selected for study. An affected individual was required to have been diagnosed by a neurologist as suffering from non-myoclonic idiopathic epilepsy or partial idiopathic epilepsy. All patients suspected of suffering from idiopathic epilepsy were submitted to video monitoring in order to characterise the seizures electroencephalographically. RESULTS: Of the 106 individuals in this family that were included in the family tree, 76 were genotyped, 15 of whom were affected by generalised clonic tonic seizures and six were considered to be possibly affected. Results of the lod score were significantly negative for all the markers in relation to each model that was considered. CONCLUSIONS: The possibility of the genes located in the 8q22.1 -q24.23, 16p13.3 and 21q22.3 regions being responsible for the familial aggregation of GIE in this family was ruled out, which is in accordance with claims made in previous studies conducted on other families.

Assuntos

Epilepsia/genética , Ligação Genética , Adolescente , Adulto , Criança , Pré-Escolar , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Colômbia , Eletroencefalografia , Epilepsia/classificação , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Família , Feminino , Marcadores Genéticos , Genótipo , Humanos , Lactente , Escore Lod , Masculino , Linhagem

RESUMO

Clear evidence has been presented correlating gene polymorphisms at 6p21.3-21.4 (containing HLA and TNF) and the predisposition to acquire multiple sclerosis (MS). In a previous study, we found that polymorphisms at HLA DQAI were associated with being or not being predisposed to MS in individuals inhabiting the tropics, where the prevalence of MS is significantly lower than in subtropical areas. Here, we tested the hypothesis that polymorphisms at D6S276, D6S265, D6S273 and D6S291 microsatellite loci are in strong linkage disequilibrium with a major genetic factor predisposing to MS. These microsatellites span the 6p21.3 region with intervals of 5 cM establishing particular landmarks for the HLA and TNF loci. Thirty-five MS patients and 35 controls, age, sex, social, ethnically and geographically matched healthy individuals, were studied. After testing the fit of gene frequencies to the normal distribution and performing the correlation for multiple comparisons, we found significant differences among the case and the control frequencies for the allele 202 belonging to the marker D6S276 (Pc=0.00455) and for the allele 114 belonging to the marker D6S265 (Pc=0.0084). For these two alleles at different loci, we found higher frequencies in the cases than in the controls. A nonsignificant p value was found in testing the existence of linkage disequilibrium among the studied loci in the cases and in the controls. In conclusion, the current study adds evidence to the established association among polymorphisms of genes located at 6p21.3-21.4 and MS. Furthermore, because of the distribution of the tested microsatellite loci, the more probable critical region could be correlated with the TNF neighborhood.

Assuntos

Cromossomos Humanos Par 6 , Antígenos HLA-DQ/genética , Esclerose Múltipla/genética , Fator de Necrose Tumoral alfa/genética , Adulto , Colômbia/epidemiologia , Feminino , Frequência do Gene , Predisposição Genética para Doença/epidemiologia , Cadeias alfa de HLA-DQ , Humanos , Desequilíbrio de Ligação , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Fenótipo , Polimorfismo Genético , Prevalência

RESUMO

INTRODUCTION: Myasthenia gravis (MG), considered the commonest of all the illnesses that affect neuromuscular transmission, is a disorder in which the autoimmune system attacks the post synaptic acetylcholine receptor proteins in the end plate terminal; it is characterised by weakness and skeletal muscle fatigue, with no anomalies in reflexes, sensitivity or coordination. Epidemiological indicators, such as incidence and prevalence, are not known in Colombia. AIMS. To determine the prevalence of MG among the inhabitants of Antioquia, through the use of the capture recapture method. PATIENTS AND METHODS: The capture recapture method was used for two sources, the Instituto Neurológico de Antioquia and the Hospital Universitario San Vicente de Pa l, which are the most important institutions for the diagnosis of neurological diseases in Antioquia. MG prevalence was calculated using the following formula: p= n/N 105. We examined the data from the period between 1 July 1995 and 30 June 2000 with the aim of identifying subjects who fitted the profile of MG sufferers. RESULTS: General MG prevalence in Antioquia was 27.7 cases per million inhabitants (CI 95%= 23.2 32.2). The male/female ratio was 1:3.77. CONCLUSIONS: The estimated prevalence of MG is lower than that reported in United States and other temperate regions, where it varies between 60 and 150 cases per million. The prevalence of MG is low in Antioquia, as in other tropical areas

Assuntos

Miastenia Gravis/epidemiologia , Adulto , Idade de Início , Área Programática de Saúde , Colômbia/epidemiologia , Feminino , Humanos , Incidência , Masculino , Prevalência

RESUMO

The brain cell karyotype of New World sand fly Lutzomyia shannoni was described. This species has four pairs of chromosomes, 2N=8, with one pair of heteromorphic chromosomes.

Assuntos

Encéfalo/citologia , Bandeamento Cromossômico , Psychodidae/genética , Animais , Feminino , Cariotipagem , Masculino , Metáfase

RESUMO

INTRODUCTION AND OBJECTIVE: Discrimination and quantification of the environmental and genetic components involved in developing multiple sclerosis (MS) have not been made. In order to discriminate these components we have ascertained affected individuals by MS belonging to the Paisa community from Antioquia, Colombia, a state localized in the tropical area of South America, to detect eventual linkage disequilibrium to HLA, locus DQ alpha, which could demonstrate the relevance of the genetic component. DEVELOPMENT: A contingence analysis among case-control HLA DQ alpha genotype distributions, by using Monte Carlo resampling method to solve small number sample, showed that there are significant differences between the two groups. We observe that HLA DQ alpha 1.1, 1.2 allele frequencies were higher in the cases than in the controls. Also, there was significant HLA DQ alpha 3 allele lower frequency (p < 0.05) in the cases than in the controls. CONCLUSIONS: Similar results have been described in other Caucasian populations living in non tropical areas. Before results could indicate that the Caucasoid populations genetic component implied in the susceptibility to MS have remained in Paisa community, whether the environmental component, being meaningful to develop MS.

Assuntos

Antígenos HLA-DQ/genética , Homeostase/genética , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Adulto , Alelos , Encéfalo/patologia , Estudos de Casos e Controles , Área Programática de Saúde , Colômbia/epidemiologia , Potenciais Evocados/fisiologia , Feminino , Ligação Genética , Humanos , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico

RESUMO

INTRODUCTION: In extended and multigenerational pedigrees, the idiopathic epilepsy phenotype shows an extreme variability. OBJECTIVE: The range of idiopathic epilepsy onset age in multigenerational pedigrees was studied in order to determine if genetic anticipation play a role in the heredity of Idiopathic Epilepsies. PATIENTS AND METHODS: We compare the seizures onset age among relative-pairs of (parents-children, grandfathers-grandsons and nephew uncles). The mean onset age was compared using the Wilcoxon sign-rank paired-sample non-parametrical test to determine whether or not significant differences over > 0 exist, which refutes the null hypothesis of not anticipation. 84 pairs of relatives were taken from 72 extended multigenerational pedigrees. RESULTS: The onset age of idiopathic epilepsy of the pairs showed a difference significantly > 0, which confirm the existence of intergenerational differences. This difference has a tendency to decrease in age which each successive generation. This difference occur in all relative pairs and therefore contradicts the ascertainment bias described by Penrose. CONCLUSIONS: The results outline the existence of unstable mutations (those produced by a nucleotidic variable number of tandem repeats) as a probable explanation of the susceptibility to develop some forms of idiopathic epilepsy.

Assuntos

Epilepsia/genética , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Inquéritos e Questionários

RESUMO

INTRODUCTION: The BASC is a multidimensional approach to evaluate the child behavior and it has been validated on the diagnosis of ADD/+H in North American children. OBJECTIVE: Validating BASC-PRS 6-11 on the diagnosis of ADD/+H. PATIENTS AND METHODS: We selected 25 male DSM IV-ADD/+H (combined type), 6 to 11-years-old children, and 25 age, gender, and socioeconomic status matched controls. Mean ages of both groups 8.16 (1.5), schooling of controls 2.64 (1.4), and cases 2.6 (1.9). RESULTS: On the Clinical Scale ADD/+H children had significant (Anova p < 0.01) higher scores in hyperactivity, conduct problems, and attention problems. On the Adaptive Scale only significant differences on social skills and leadership were found, with lower score in the ADD/+H group. A crosstab analysis between group code and each rating variable transformed into categorical (0 and 1) variable, cut-off point = 85 percentile, found that the case children's parents qualified as clinically in higher risk the variables attention problems (OR = 24.4; 95% CI = 4.5-130), conduct problems (OR = 9.0; 95% CI = 1.7-46.9) and hyperactivity (OR = 6.8; 95% CI = 1.6-28.5) (p < 0.01). A discriminant analysis selected attention problems as discriminant function (p < 0.0001). Classification capability 84% for each group. CONCLUSION: Our results proved the validity of the BASC-PRS 6-11 questionnaire for the screening diagnosis of ADD/+H children in a Spanish speaking population.

Assuntos

Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Pais/psicologia , Inquéritos e Questionários , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/etiologia , Transtornos do Comportamento Infantil/psicologia , Feminino , Humanos , Masculino , Relações Pais-Filho

RESUMO

INTRODUCTION: Behavioral Assessment System for Children (BASC) has demonstrated to be useful in the diagnosis of Attention Deficit Disorder (ADD). PATIENTS AND METHODS: A randomized sample of 120 children, 6 to 11-year-old, participants from the school of the city of Medellín, Colombia, was selected. The sample was stratified by sex and two socioeconomic status (SES). Parents were asked to answer the BASC Parent Rating Scale (PRS) 6-11, authorized Spanish version. RESULTS: Cronbach's alpha coefficient was 0.85 for the clinical scale (9 items). It was 0.75 for the Adaptive Scale (3 items). A scale designed with 4 items to assess ADD (hyperactivity, attention problems, aggression, and conduct problems) showed an alpha coefficient of 0.82. Male children scored significantly higher than female (ANOVA, p < 0.05) in hyperactivity, conduct problems, and atypicality. Children from low SES scored significantly higher than children of high SES on the most of clinical measures (p < 0.05) and lower on the three adaptive measures. Cluster analysis selecting six clusters found a prevalence of 61.6% for normal male children. In the total sample there were a 4% at risk of DDA type II (inattentive) and 14% at risk of DDA type I (combined). CONCLUSIONS: BASC PRS (6-11) showed reliability and validity to assessing the behavior in Spanish speaking Colombian children.

Assuntos

Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos do Comportamento Infantil/diagnóstico , Pais , Inquéritos e Questionários , Criança , Colômbia , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes

RESUMO

PURPOSE: A prospective series of 643 persons with epilepsy attending a reference neurologic center in Medellín, Colombia, was examined by computed tomography (CT scan) or serology or both with the enzyme-linked immunoelectrotransfer blot assay (EITB) to assess the prevalence of Taenia solium cysticercosis. METHODS: All presenting patients were consecutively enrolled in the study. Five hundred forty-six persons underwent cerebral CT scans; 376 of them also had serum EITB performed. RESULTS: Prevalence of neurocysticercosis by CT scan was 13.92%. Overall prevalence of T. solium antibodies with EITB was 9.82%, but for those with late-onset epilepsy (onset after age 30 years), prevalence increased to 17.5% and 19% for those who originated from outside urban Medellín. Seroprevalence in individuals with mixed lesions (cysts and calcifications) was 88.2% and 64.10% in those with live cysts. Conversely, only 2.72% of persons with CT findings not related to neurocysticercosis had positive EITB tests. CONCLUSIONS: Our study shows that an important proportion of individuals with epilepsy have radiologic or serologic evidence of T. solium infection, suggesting that neurocysticercosis is an important etiology for epilepsy in Colombia.

Assuntos

Epilepsia/epidemiologia , Neurocisticercose/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idade de Início , Assistência Ambulatorial , Encéfalo/diagnóstico por imagem , Colômbia/epidemiologia , Comorbidade , Epilepsia/diagnóstico , Epilepsia/diagnóstico por imagem , Feminino , Humanos , Immunoblotting/estatística & dados numéricos , Técnicas Imunoenzimáticas/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Neurocisticercose/diagnóstico , Neurocisticercose/diagnóstico por imagem , Prevalência , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X/estatística & dados numéricos

RESUMO

La discriminación y cuantificación de los componentes ambientales y genéticos en el desarrollo de esclerosis múltiple (EM) no se ha podido realizar. con la finalidad de acercarnos a la discriminación de dichos componentes, hemos analizado casos afectados de EM a partir de la comunidad paisa de Antioquia, Colombia, zona situada en el trópico; para detectar un posible desequilibrio de ligamiento al HLA, locus DQÓ, aspecto que revelaría la importancia del componente genético en el desarrollo de EM. Un análisis de contingencia entre las distribuciones genotípicas del HLA DQÓ de los casos y controles, usando el remuestreo de Monte Carlo para solucionar el problema del tamaño muestral que es inherente a las poblaciones con baja prevalencia de EM, reveló que existen diferencias significativas entre las dos distribuciones. La tendencia alélica observada fue de un incremento de los alelos 1.1., 1.2 y una disminución de los alelos 3 (con un p significativamente < de 0,05) y 4 en la población afectada. Los mismos resultados han sido descritos en otras poblaciones de origen caucasoide no localizadas en el trópico, lo cual puede indicar que este componente genético descrito en la población caucasoide se ha mantenido en la poblaciòn de enfermos con EM originarios de Antioquia y que continúa siendo importante para el desarrollo de la enfermedad

Assuntos

Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Colômbia

RESUMO

Most Colombian populations stem from the admixture of Caucasians, Amerindians and Negroids. In the world, these two latter ethnical groups show a significantly higher prevalence of epilepsy than the former one. We tested the hypothesis that the high prevalence of idiopathic epilepsy with generalized tonic clonic seizures found in the Antioquian population (Paisas), from Colombia, is due to their possible joint Negroid and Amerindian ethnic components. We have previously demonstrated that inheritance is the principal factor for developing epilepsy in this community. Analyses of racial admixture, heterogeneity between populations, genetic distance, and phyletic relationships were performed among epileptic and non epileptic samples from the Antioquian community. Also Caucasians, Spaniards, Basques, Jews, Chileans, Negroids, Amerindians and Mongoloids were included in the analysis. Four highly polymorphic blood systems were used as genetic markers: RH, MNS, ABO and FY. They were chosen because of their high discriminant power in these ethnic groups. In the population affected with idiopathic epilepsy, the estimated Negroid and Amerindian rates of admixture were low (3% and 14%, respectively). Although, these degrees of admixture can be explained due to common ancestral origins, the estimated proportion of Amerindian admixture in the epileptic affected population, was significantly higher than the estimated for the Non affected Antioquian population. The latter finding is consistent with the analysis of heterogeneity between populations that discriminated epileptic population from non epileptic Antioquian population (p < 0.05). Epileptic and non epileptic Paisas clustered in topology with Caucasians, very close to Spaniards and Basques and highly distant from Negroids and Amerindians. Thus, far, the origin of the high prevalence of idiopathic epilepsy in the Antioquian (Paisa) population cannot be explained by the hypothetical joint Negroid and Amerindian ethnical admixture, but using additional genetic markers and other methods of racial estimation of admixture it is necessary to corroborate if the Amerindian admixture component is significantly higher in the epileptic population than in the non epileptic Paisa population.

Assuntos

População Negra/genética , Epilepsia/etiologia , Indígenas Sul-Americanos/genética , Colômbia/epidemiologia , Epilepsia/epidemiologia , Humanos , Prevalência

RESUMO

Most Colombian populations stem from the admixture of Caucasians, Amerindians and Negroids. In the world, these two latter ethnical groups show a significantly higher prevalence of epilepsy than the former one. We tested the hypothesis that the high prevalence of idiopathic epilepsy with generalized tonic clonic seizures found in the Antioquian population (Paisas), from Colombia, is due to their possible joint Negroid and Amerindian ethnic components. We have previously demonstrated that inheritance is the principal factor for developing epilepsy in this community. Analyses of racial admixture, heterogeneity between populations, genetic distance, and phyletic relationships were performed among epileptic and non epileptic samples from the Antioquian community. Also Caucasians, Spaniards, Basques, Jews, Chileans, Negroids, Amerindians and Mongoloids were included in the analysis. Four highly polymorphic blood systems were used as genetic markers: RH, MNS, ABO and FY. They were chosen because of their high discriminant power in these ethnic groups. In the population affected with idiopathic epilepsy, the estimated Negroid and Amerindian rates of admixture were low (3 percent and 14 percent, respectively). Although, these degrees of admixture can be explained due to common ancestral origins, the estimated proportion of Amerindian admixture in the epileptic affected population, was significantly higher than the estimated for the Non affected Antioquian population. The latter finding is consistent with the analysis of heterogeneity between populations that discriminated epileptic population from non epileptic Antioquian population (p < 0.05). Epileptic and non epileptic Paisas clustered in topology with Caucasians, very close to Spaniards and Basques and highly distant from Negroids and Amerindians. Thus, far, the origin of the high prevalence of idiopathic epilepsy in the Antioquian (Paisa) population cannot be explained by the hypothetical joint Negroid and Amerindian ethnical admixture, but using additional genetic markers and other methods of racial estimation of admixture it is necessary to corroborate if the Amerindian admixture component is significantly higher in the epileptic population than in the non epileptic Paisa population

Assuntos

Humanos , População Negra/genética , Epilepsia/etiologia , Indígenas Sul-Americanos/genética , Colômbia/epidemiologia , Epilepsia/epidemiologia , Prevalência

RESUMO

Data on 113,913 liveborn children from a hospital in Guadalajara, Jalisco (Mexico), were analysed for birth defects (BD); mutation rates were calculated for sporadic aneuploidy, chromosome aberrations and dominant gene mutations. The results showed a general incidence of 13.92 BD cases per 1000 liveborns, of which 1.64% were chromosomal abnormalities, 1.50% were aneuploid, 0.14% were structural chromosome aberrations and 3.23% were dominant gene mutations. The mutation rates were 8.20 x 10(-4) chromosomal abnormalities, 7.5 x 10(-4) aneuploidies, 7.0 x 10(-5) chromosome aberrations and 1.61 x 10(-3) dominant gene mutations/gamete/generation, respectively. The lethality rate was 15.32% of the liveborns with BD. The described findings estimate the incidence of new human mutants detected at birth in a sample of the Mexican population. They show that the rate for some aneuploidies are similar to those found in other populations previously reported in the literature but the rates of chromosome and dominant gene mutations were different.

Assuntos

Aneuploidia , Aberrações Cromossômicas , Anormalidades Congênitas/epidemiologia , Genes Dominantes , Mutação , Anormalidades Congênitas/genética , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , México/epidemiologia

RESUMO

The case of a patient affected by maxillary retrognathism associated with mandibular prognathism, is described. The patient was operated in our service after being studied in the multidisciplinary clinics. It is determined to use a mandibular bone graft in order to make use of the same surgical area, avoiding, in that way, maxillary retrodisplacement and additional aggressions to the patients, which should be caused by the act of taking a fragment of the crest of the iliac bone. The patient presents a wholly favorable evolution.

Assuntos

Transplante Ósseo , Prognatismo/cirurgia , Retrognatismo/cirurgia , Adulto , Humanos , Masculino