RESUMO
BACKGROUND: Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. CASE PRESENTATION: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. CONCLUSIONS: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.
Assuntos
Síndromes Miastênicas Congênitas , Humanos , Síndromes Miastênicas Congênitas/genética , Masculino , Mutação , Simportadores/genética , Criança , Pré-EscolarRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) allele groups and alleles by PCR-SSP based typing in a total of 15,318 mixed ancestry Mexicans from all the states of the country divided into 78 sample sets, providing information regarding allelic and haplotypic frequencies and their linkage disequilibrium, as well as admixture estimates and genetic substructure. We identified the presence of 4268 unique HLA extended haplotypes across Mexico and find that the ten most frequent (HF > 1%) HLA haplotypes with significant linkage disequilibrium (Δ'≥0.1) in Mexico (accounting for 20% of the haplotypic diversity of the country) are of primarily Native American ancestry (A*02~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*08~DQB1*04, A*68~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*14~DQB1*03:01, A*24~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*04~DQB1*03:02, A*02~B*40:02~DRB1*04~DQB1*03:02, A*68~B*35~DRB1*04~DQB1*03:02, A*02~B*15:01~DRB1*04~DQB1*03:02). Admixture estimates obtained by a maximum likelihood method using HLA-A/-B/-DRB1 as genetic estimators revealed that the main genetic components in Mexico as a whole are Native American (ranging from 37.8% in the northern part of the country to 81.5% in the southeastern region) and European (ranging from 11.5% in the southeast to 62.6% in northern Mexico). African admixture ranged from 0.0 to 12.7% not following any specific pattern. We were able to detect three major immunogenetic clusters correlating with genetic diversity and differential admixture within Mexico: North, Central and Southeast, which is in accordance with previous reports using genome-wide data. Our findings provide insights into the population immunogenetic substructure of the whole country and add to the knowledge of mixed ancestry Latin American population genetics, important for disease association studies, detection of demographic signatures on population variation and improved allocation of public health resources.
Assuntos
Alelos , Genética Populacional/métodos , Antígenos HLA/genética , Complexo Principal de Histocompatibilidade/genética , Polimorfismo de Nucleotídeo Único , DNA/genética , DNA/isolamento & purificação , Frequência do Gene , Genoma Humano , Haplótipos , Humanos , Desequilíbrio de Ligação , MéxicoRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 144 Mexicans from the state of Guerrero to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes in the state of Guerrero include eight Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in the state of Guerrero are Native American (61.36⯱â¯2.69% by ML; 54.17% of Native American haplotypes) and European (35.01⯱â¯4.59% by ML; 32.29% of European haplotypes), and a relatively low African genetic component (3.63⯱â¯2.38% by ML; 5.90% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , MéxicoRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 173 Mexicans from the state of Chiapas living in the city of Tuxtla Gutiérrez (Nâ¯=â¯52) and rural communities (Nâ¯=â¯121), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes in Chiapas include 12 Native American and one European haplotype. Admixture estimates revealed that the main genetic components in Chiapas are Native American (71.61⯱â¯0.58% by ML; 53.16% of Native American haplotypes) and European (26.39⯱â¯5.05% by ML; 25.86% of European haplotypes), and a less prominent African genetic component (2.00⯱â¯5.20% by ML; 9.77% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Cidades , Frequência do Gene , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 122 Mexicans from the state of Hidalgo living in the city of Pachuca (Nâ¯=â¯41) and rural communities (Nâ¯=â¯81), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in Hidalgo include eight Native American and one European haplotypes. Admixture estimates revealed that the main genetic components in Hidalgo are Native American (58.93⯱â¯2.16% by ML; 54.51% of Native American haplotypes) and European (32.49⯱â¯2.88% by ML; 28.69% of European haplotypes), and a relatively high African genetic component (8.58⯱â¯0.93% by ML; 6.97% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 1113 Mexicans from the state of Veracruz living in the cities of Coatzacoalcos (Nâ¯=â¯55), Orizaba (Nâ¯=â¯60), Córdoba (Nâ¯=â¯56), Poza Rica (Nâ¯=â¯45), Veracruz (Nâ¯=â¯171), Xalapa (Nâ¯=â¯187) and rural communities (Nâ¯=â¯539) to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes include 12 Native American haplotypes. Admixture estimates revealed that the main genetic components are Native American (64.93⯱â¯1.27% by ML; 55.10% of Native American haplotypes) and European (26.56⯱â¯0.89% by ML; 28.38% of European haplotypes), and a relatively high African genetic component (8.52⯱â¯1.82% by ML; 8.78% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 81 Mexicans from the state of Campeche living in the city of Campeche (Nâ¯=â¯34) and rural communities (Nâ¯=â¯47), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Campeche include ten Native American, three European, one African and one Asian haplotype. Admixture estimates revealed that the main genetic components in the state of Campeche are Native American (65.56⯱â¯0.96% by ML; 51.24% of Native American haplotypes), European (34.44⯱â¯10.94% by ML; 30.25% of European haplotypes), and a virtually absent African genetic component (0.00⯱â¯10.31% by ML; 9.26% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Cidades , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 112 Mexicans from the state of Morelos living in the city of Cuernavaca (Nâ¯=â¯82) and rural communities (Nâ¯=â¯30), to obtain information regarding allelic and haplotypic frequencies. The most frequent haplotypes in Morelos include seven Native American, one European, one African and one Asian haplotype. Admixture estimates revealed that the main genetic components in Morelos are Native American (60.43⯱â¯2.22% by ML; 53.57% of Native American haplotypes) and European (39.58⯱â¯3.70% by ML; 27.68% of European haplotypes), and a virtually absent African genetic component (0.00⯱â¯4.93% by ML; but 11.16% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 224 Mexicans from the state of Tabasco living in the city of Villahermosa (Nâ¯=â¯82) and rural communities (Nâ¯=â¯142), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes in Tabasco include 13 Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in Tabasco are Native American (67.79⯱â¯1.59% by ML; 56.25% of Native American haplotypes) and European (27.21⯱â¯3.97% by ML; 29.91% of European haplotypes), and a less prominent African genetic component (5.01⯱â¯4.42% by ML; 8.93% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Cidades , Frequência do Gene , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 88 Mexicans from the state of Querétaro living in the city of Querétaro (Nâ¯=â¯45) and rural communities (Nâ¯=â¯43), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Querétaro include seven Native American, two European and one Asian haplotype. Admixture estimates revealed that the main genetic components in the state of Querétaro are Native American (51.82⯱â¯4.42% by ML; 42.61% of Native American haplotypes) and European (48.18⯱â¯3.55% by ML; 46.02% of European haplotypes), with a virtually absent African genetic component (0.00⯱â¯4.25% by ML; 4.55% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Frequência do Gene , Genótipo , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 1217 Mexicans from the Mexico City Metropolitan Area living in the northern (Nâ¯=â¯751), southern (Nâ¯=â¯52), eastern (Nâ¯=â¯79), western (Nâ¯=â¯33), and central (Nâ¯=â¯152) Mexico City, and rural communities (Nâ¯=â¯150), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes include 11 Native American haplotypes. Admixture estimates revealed that the main genetic components are Native American (63.85⯱â¯1.55% by ML; 57.19% of Native American haplotypes) and European (28.53⯱â¯3.13% by ML; 28.40% of European haplotypes), and a less apparent African genetic component (7.61⯱â¯1.96% by ML; 7.17% of African haplotypes).
Assuntos
Etnicidade/genética , Variação Genética , Genética Populacional , Antígenos HLA/genética , Alelos , Cidades , Frequência do Gene , Geografia , Haplótipos , Humanos , Desequilíbrio de Ligação , México , População RuralRESUMO
Se realizó un estudio transversal descriptivo directo en el Hospital Dr. Luis E. Aybar en el periodo comprendido entre octubre de 1989 a noviembre de 1990 inclusive, con el objetivo de conocer los resultados de la evaluación oftalmológica en los recien nacidos que han recibido oxigenoterapia en la unidad de cuidados intensivos de este centro hospitalario. La población estudiada fue un total de 26 niños de los cuales 21 (80.8 por ciento ) no presentaron alteraciones oftalmológicas y 5 (19.2 por ciento ) presentaron Retinopatia del prematuro. En el total de casos de Fibroplasia retrolental de hallazgo encontrado consistio en vasoconstricción arteriolar acompañado de vasodilatación y tortuosidad venosa que representa el primer grado de los estadios retinianos de la Retinopatia del prematuro