RESUMO
The effectiveness of gossypol as an antifertilizing agent is due to the severe injuries or death that this drug produces on spermatozoa and spermatides. Several in vitro and in vivo studies have shown that spermatozoal lactic and malic dehydrogenases are inhibited by gossypol; and that these are more susceptible than the somatic enzymes. Notwithstanding, the in vivo effects on other somatic enzymes have been poorly analyzed. The present study shows that gossypol did not produce toxic effects on eight erythrocytic enzymes of male hamsters that were fed daily with 20 mg of gossypol/kg, for 1, 3, 5 or 10 days. The enzymatic activities analyzed were: adenylate kinase, hexokinase, glucose-6-phosphatase, glucose phosphoisomerase, phosphofructokinase, glyceraldehyde-3-phosphate dehydrogenase, phosphoglyceratokinase and pyruvate kinase.
Assuntos
Metabolismo dos Carboidratos , Eritrócitos/enzimologia , Gossipol/toxicidade , Espermatozoides/efeitos dos fármacos , Administração Oral , Animais , Cricetinae , Eritrócitos/efeitos dos fármacos , Masculino , Espermatozoides/metabolismoRESUMO
829 icteric newborn males were studied in order to have more information about the frequency of the G-6-PD deficiency and its origin in the population of the Monterrey Metropolitan area (MMA), in northeastern Mexico. For each subject information about the maternal grandparents' birthplace (states of Mexico) was gathered. The newborns were grouped into five geographic areas. It was found that the frequency of G-6-PD deficiency is higher in icterics than in normal newborns. The grandparents of the deficient newborns with variant B belonged to the northeastern states of Mexico where more European genetic contribution was present whereas most of the grandparents of the A- deficient newborns were from the gulf coast states, where the genetic contribution was African.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Icterícia Neonatal/complicações , Emigração e Imigração , Feminino , Frequência do Gene , Variação Genética , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Recém-Nascido , Masculino , México/epidemiologiaRESUMO
Existe un gran número de errores congénitos del metabolismo asociados a anormalidades clínicas entre las que destaca el retardo mental, y que pueden prevenirse si se detecta y aplica la terapia adecuada y portuna. En este trabajo se presentan los resultados obtenidos aplicando pruebas de tamizaje metabólico (PTM) en 1485 muestras de orina de pacientes de la consulta pediátrica del Hospital General de Zona No. 21 y Hospital Regional de Especialidades No. 25, así como de clínicas del IMSS en el área metropolitana de Monterrey, Nuevo León, a las cuales se les realizaron pruebas químicas cualitativas para la determinación de aminoácidos, mucopolisacáridos, ácidos orgánicos y azúcares, así como cromatográficas. En una segunda ocasión solamente 44.83 y 57.02 por ciento respectivamente, dieron nuevamente una prueba positiva, por lo que se sugiere que médico responsable debe de enviar una segunda muestra con información sobre factores que puedan influir en los resultados
Assuntos
Humanos , Masculino , Feminino , Triagem Neonatal , Erros Inatos do Metabolismo/diagnósticoRESUMO
In order to know if there would be genetic structural differences among non industrial and industrial populations, two genetic markers were studied: color-blindness (CPC) and glucose-6-phosphate dehydrogenase deficiency (G6PD), in students, males and females that were resident in five non industrial populations in the State of Nuevo Leon. The results were compared with the information for industrial zone from the Monterrey Metropolitan area (AMM). It was found that the frequencies of CPC and G6PD in non industrial populations (2.57 and 0.00 per cent), were lower than the ones in the industrial AMM (4.0 and 0.66 per cent), probably as a result that in the first populations, with minor urbanization, the main factors that influence are: natural selection, interacial mixed or genetic drift and the second population is the immigration, since 1940 to present time, of Mexican populations with greater influence from the Indians and Africans.
Assuntos
Defeitos da Visão Cromática/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Adolescente , África/etnologia , Criança , Defeitos da Visão Cromática/etnologia , Defeitos da Visão Cromática/genética , Emigração e Imigração , Feminino , Frequência do Gene , Marcadores Genéticos , Deficiência de Glucosefosfato Desidrogenase/etnologia , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Indígenas Norte-Americanos/genética , Indústrias , Masculino , México/epidemiologia , Prevalência , População UrbanaRESUMO
In order to estimate the frequency of G6PD deficiency in the icteric population of the Monterrey metropolitan área (MMA), in the state of Nuevo León, there were studied 829 newborn males were studied. It was found that 13 subjects were deficient of this enzyme, that is equivalent to a frequency of 1.57% and when this frequency was compared with the one that was found an a previous study in a random sample of newborn males (0.66%) no statistical difference was observed, but it was estimated that the icteric newborn males have a relative risk of 2.34 times higher than the population in general to be a G6PD deficient, and this fact suggests the necessity to establish this screening test as a routine for all icteric newborn males, in order to have an opportune detection and an appropriate counselling.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Icterícia Neonatal/etiologia , Adulto , Antígenos de Grupos Sanguíneos , Feminino , Glucosefosfato Desidrogenase/sangue , Glucosefosfato Desidrogenase/genética , Deficiência de Glucosefosfato Desidrogenase/classificação , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Incidência , Recém-Nascido , Masculino , México/epidemiologia , RiscoRESUMO
The erytrocyte glucose-6-phosphate deshydrogenase (G6PD) identification and activity were determinated in all member of a family, which was selected because one of the sons showed the clinical signs of hemolitic anemia due to G6PD deficiency and this was confirmed by qualitative fluorescent test, enzyme activity quantification and electrophoretic runs. It was found that two clinically healthy brothers are G6PD deficients and that the mother and one sister are carriers of this enzimatyc defect of the A--variant. As an antecedent it was found that the propositus mother received chloramphenicol treatment for ten days during the first three months of pregnancy. The advantages of the opportune enzymatic studies, with the objective to avoid hemolitic crisis in those G6PD deficient persons, are commented.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Glucosefosfato Desidrogenase/genética , Adolescente , Anemia Hemolítica Congênita/genética , Feminino , Humanos , Lactente , Masculino , LinhagemAssuntos
Anormalidades Múltiplas/diagnóstico , Miopia/genética , Síndrome de Pierre Robin/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Artrite/genética , Osso e Ossos/anormalidades , Criança , Fissura Palatina/genética , Erros de Diagnóstico , Face/anormalidades , Feminino , Genes Dominantes , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/diagnóstico , Linhagem , Descolamento Retiniano/genéticaAssuntos
Transtornos do Desenvolvimento Sexual/genética , Criança , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Desenvolvimento Sexual/psicologia , Feminino , Hormônios Esteroides Gonadais/metabolismo , Humanos , Hipospadia/genética , Sistema Hipotálamo-Hipofisário/fisiopatologia , Masculino , Transtornos Mentais/etiologia , Escroto/anormalidades , Testículo/fisiopatologia , Cromossomo XRESUMO
Data from a program aiming to the detection of inborn errors of the erythrocyte metabolism (IEEM) in Northwestern Mexican populations are presented. 5,998 individuals were studied and divided in 5 groups: a) 1,022 full-term newborns without jaundice; b) 872 randomly selected full-term newborns; c) 3,243 full-term newborns with jaundice; d) 54 patients with hemolytic anemia, and e) 807 professional blood donors. In groups b, c and d screening for 9 out of 14 IEEM clearly associated with hemolysis was carried out by means of enzymatic fluorescent procedures. In groups a and e only G-6-PD deficiency was investigated. The results suggest that 0.34%, 0.77%, 24% and 0.37% of the individuals from groups b, c, d and e, respectively, have an IEEM. The frequency of G-6-PD deficiency was 0, 0.43%, 1.1%, 30.3% and 0.37% in the males from groups a, b, c, d and e, respectively. The IEEM as a cause of neonatal jaundice seem not to be a public health problem in the studied populations. Systematic screening for: 1) G-6-PD deficiency in newborns with jaundice and 2) IEEM in patients with hemolysis, is recommended.
Assuntos
Eritrócitos/metabolismo , Erros Inatos do Metabolismo/epidemiologia , Anemia Hemolítica/etiologia , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Humanos , Recém-Nascido , Icterícia Neonatal/etiologia , Masculino , Programas de Rastreamento , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/complicações , MéxicoRESUMO
Se presenta los resultados de los estudios bioquimicos cualitativos y cuantitativos realizados en una familia (padres y 2 ninas) en la que el caso indice presento caracteristicas clinicas sugestivas de la enfermedad de orina de jarabe de arce (EOJA). Dos pruebas cualitativas para la deteccion de errores congenitos del metabolismo -cloruro ferrico y 2,4-dinitrofenilhidrazina- fueron positivas en el caso indice. Mediante metodos cromatograficos se encontraron cantidades elevadas de leucina, valina y acido alfa-cetoisocaproico en el plasma y la orina de la proposita. Los leucocitos perifericos de la paciente incubados en presencia de 1,C14-leucina, no fueron capaces de formar 14CO2.Estos resultados confirmaron el diagnostico y sugirieron la forma clasica de la enfermedad. Con la metodologia utilizada no fue posible identificar el estado heterozigoto em ambos padres.En la hermana de la proposita los resultados fueron normales. Se enfatiza la importancia de la deteccion temprana de esta enfermedad con en objeto de establecer la terapia adecuada y ofrecer asesoriamiento genetico
Assuntos
Doença da Urina de Xarope de BordoRESUMO
Se hizo un estudio a una familia en la que tres hermanos, dos mujeres y un varon, de 16, 12 y 14 anos de edad respectivamente, presentaban retardo mental profundo.De las pruebas cualitativas para la investigacion de los errores metabolicos congenitos las de clorudo ferrico, tira reactiva para determinar fenilalanina y 2,4-dinitrofenilhidrazina fueron positivas en las muestras de orina de los tres pacientes, sugiriendo la excrecion de acido fenilpiruvico, catabolito de la fenilalanina. La cromatografia en papel y en capa fina de muestras de orina, mostro grandes cantidades de fenalalanina. Los resultados de la cuantificacion de los niveles plasmaticos de fenilalanina y tirosina por cromatografia en columna, fueron de 43.6, 34.7 y41.8 y de 1.2, 0.6 y 10 mg/100 ml, respectivamente. El analisis de los datos clinicos y bioquimicos encontrados en estos pacientes y su comparacion con los informados en la literatura para los nueve diferentes tipos de hiperfenilalaninemia, es compatible con um diagnostico de hiperfenilalaninemia tipo I