RESUMO
BACKGROUND AND OBJECTIVE: Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. METHODS: A Multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed and curated by health specialists; including clinical features, age at first symptoms, age at diagnosis, disease progression and management, family history, education, age and cause of death. RESULTS: There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of patients obtained definite diagnosis and most of them are in physiotherapy programs but not under steroid treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p = 0.05). Approximately 93.33% of our patients attended to education programs. Mean age at death was 18.94 +/- 6.73 years and the most frequent cause was pneumonia. CONCLUSION: Delayed diagnosis of DMD in Mexico is mainly caused by the late detection of first symptoms. There is no difference in early detection of symptoms between familiar and sporadic cases. Lifespan of patients in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect patient management and genetic counseling and could also preclude participation of patients into novel clinical trials.
Assuntos
Diagnóstico Tardio/estatística & dados numéricos , Gerenciamento Clínico , Aconselhamento Genético/estatística & dados numéricos , Distrofia Muscular de Duchenne/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Países em Desenvolvimento , Feminino , Humanos , Lactente , Masculino , México/epidemiologia , Distrofia Muscular de Duchenne/epidemiologia , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: The objective of this study was to determine the psychometric properties of the Kid s Eating Disorders Survey (KEDS)-Spanish version [Cuestionario infantil para trastornos de la conducta alimentaria (CITCA)]. METHOD: The following instruments were applied to subjects aged 7-17 years: K-SADS-PL-MX, Eating Attitude Test-40 (EAT- 40) and CITCA (Spanish version of the KEDS). RESULTS: A total of 98 females, age 12.5 + 2.5 (7-17), participated. Cronbach's alpha coefficient for the total of the KEDS was 0.92. The scale items were grouped into two main components, which accounted for 74.4% of the variance. The convergent validity between the Spanish version of the KEDS and the EAT-40 was significant: r = 0.832 (p = 0.01). The criterion validity, on comparing the Spanish version of the KEDS with the K-SADS-PL-MX, was acceptable, with a r = 0.899 (p = 0.01). The test-retest at 15 days was positive: r = 0.967 (p = 0.01).
Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Inquéritos e Questionários , Adolescente , Criança , Feminino , Humanos , Idioma , Masculino , México , PsicometriaRESUMO
OBJECTIVE: To evaluate whether maternal diabetes alters the habituation ability of fetuses and newborns. STUDY DESIGN: Two nonrandomized clinical trials were performed. First, we studied prenatal fetuses of women with pregestational diabetes, and control subjects matched for gestational age, and then we studied infants of diabetic mothers (IDM) and control subjects matched for gestational age and mode of delivery. Fetus and newborns were stimulated with vibroacoustic stimulus. RESULTS: In fetuses of diabetic mothers, the ability to habituate was lower, and the habituation rate was higher than in control subjects to all habituation tests. In the neonatal period, ability to habituate was lower (59% vs 100%; P< .001), and the habituation rate was higher (18 [14-21] vs 4 [1.2-6.8]; P< .001) in the IDM than in the control infants. We found a significant negative correlation between maternal glycosylated hemoglobin in each trimester of pregnancy and habituation ability in IDM. CONCLUSIONS: Fetuses and infants of diabetic mothers have impaired habituation ability, which is related to the degree of maternal metabolic control.
Assuntos
Sistema Nervoso Central/crescimento & desenvolvimento , Filho de Pais com Deficiência , Feto/fisiologia , Habituação Psicofisiológica , Recém-Nascido/fisiologia , Gravidez em Diabéticas , Estimulação Acústica , Adulto , Sistema Nervoso Central/embriologia , Feminino , Humanos , Gravidez , Trimestres da Gravidez , EspanhaRESUMO
The effect of sodium diethyldithiocarbamate (DDC) and S-2-aminoethyl-isothiouronicadenosin-5-triphosphate (adeturon) in the induction of Escherichia coli SOS response promoted by gamma-irradiation was studied by measuring the induction of sulA gene and the induction of lambda prophage. Furthermore, as a way of measure the exonuclease activity in gamma-irradiated cells in the presence or absence of both compounds, the DNA degradation was determined. Adeturon did not affected DNA degradation, but inhibited the induction of the SOS functions studied. On the contrary, DDC inhibited DNA degradation as well as the induction of the sulA gene, but enhanced lambda induction in E. coli lysogenic strains. These results indicate that both compounds diminish the DNA damage produced by gamma-irradiation and also suggest that the mechanisms of radioprotection must be different. Thus, radioprotection mediated by DDC should involve free hydroxyl radical scavenging and a minor activity of exonuclease. The enhancement of phage induction in E. coli cells that DDC produces could be attributed to its quelant effect and this would not be not probably directly related to radioprotection. Adeturon, as thiols, may serve also as scavenging agent of free hydroxyl radicals, diminishing indirectly the DNA damage level. In addition, adeturon must interact with DNA in the same form that other aminothiol compounds do it. This interaction, mediated by amino groups of adeturon, may serve to concentrate these compounds near of the DNA damage site, increasing the potential for the thiol portion of the molecule to donate hydrogen, decreasing the damage level on DNA molecule. However, adeturon do not modify the exonuclease activity. Some topic about the possible clinical application of both compounds are discussed.