ABSTRACT
Several countries, as Brazil, have public policies for periconceptional folic acid supplementation (FAS) in order to prevent unfavorable outcomes. Our aim was to evaluate the FAS situation in a public reference hospital from Southern Brazil. This study included all mothers who had children born at the Hospital Materno Infantil Presidente Vargas, RS, Brazil, in a 1-year period. Data collection was conducted through interviews with application of a clinical protocol and analysis of the patients' records. FAS was defined as the use of folic acid in any period of the periconceptional period, irrespective of the duration and amount. We also classified those mothers who correctly followed the national recommendation proposed by the Health Ministry of Brazil. The sample consisted of 765 mothers evaluated soon after childbirth. Their ages ranged from 12 to 45 years (mean 25.2 years). The overall level of FAS was 51.5%, and the use according to the national recommendation occurred in only 1.6%. Factors associated with non-FAS consisted of lower maternal age (p = .009) and maternal schooling (p = .023), higher number of pregnancies (p = .003), fewer prenatal visits (p = .050) and later prenatal care onset (p = .037). Periconceptional FAS in our midst seems to be very far from the ideal goal. Susceptible groups appeared to be mothers who were younger, less educated, multiparous, and had inadequate prenatal care. We believe that efforts of education and awareness should be especially targeted for these groups. These recommendations should also be strengthened among those who prescribe the FAS.
Subject(s)
Dietary Supplements , Folic Acid/administration & dosage , Neural Tube Defects/diet therapy , Prenatal Care , Adolescent , Adult , Brazil/epidemiology , Child , Female , Humans , Middle Aged , Neural Tube Defects/epidemiology , Neural Tube Defects/prevention & control , Pregnancy , Young AdultABSTRACT
ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses of patients with history of developmental delay.
RESUMO A síndrome do X frágil é a principal causa conhecida de deficiência de aprendizagem herdada, caracterizada por mutações no gene FMR1. Relatamos a detecção inesperada de um paciente com síndrome do X frágil por meio de cariótipo de sangue periférico com bandamento GTG (bandamento G após tripsina e Giemsa). A análise cariotípica identificou fragilidade Xq27.3 em 17% das metáfases analisadas e em 54% quando utilizado TC 199, consistente com o diagnóstico citogenético da síndrome. Este caso foi o único a apresentar as provas de fra(X) no cariótipo de alta resolução em nosso serviço de atendimento, contribuindo para futuros diagnósticos de pacientes com história de atraso no desenvolvimento.
ABSTRACT
ABSTRACT We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the applications and importance of this technique in the health area. The patient was a male, the only child of young and non-consanguineous parents without similar cases in the family. The patient underwent a cutaneous biopsy in which TEM revealed sub-basal membrane involvement, confirming the diagnosis of DEB. Despite technological advances, TEM continues to play an important role in diagnosis and clinical research and is considered the best option for confirmation of diagnosis and subtypes of diseases such as epidermolysis bullosa (EB).
RESUMO Relatamos o caso de um paciente com epidermólise bolhosa distrófica (EBD) diagnosticado por microscopia eletrônica de transmissão (MET), destacando aplicações e importância desta técnica na área da saúde. Paciente do sexo masculino, filho único de pais jovens não consanguíneos, sem histórico de caso familial. O paciente foi submetido à biópsia cutânea, na qual a MET revelou comprometimento da membrana sub-basal, confirmando o diagnóstico de EBD. Apesar dos avanços tecnológicos, a MET continua tendo papel importante no diagnóstico e na pesquisa clínica, sendo considerada a melhor opção para a confirmação do diagnóstico e dos subtipos de doenças como a epidermólise bolhosa (EB).
Subject(s)
Cataract/pathology , Corneal Opacity/pathology , Eye Abnormalities/pathology , Trisomy 18 Syndrome/pathology , Cataract/complications , Cataract/diagnosis , Corneal Opacity/complications , Corneal Opacity/diagnosis , Eye Abnormalities/complications , Eye Abnormalities/diagnosis , Female , Humans , Infant, Newborn , Male , Trisomy 18 Syndrome/complications , Trisomy 18 Syndrome/diagnosisABSTRACT
ABSTRACT The aim of our study aim was to report the case of a fetus with Turner syndrome (TS) diagnosed by karyotype from cystic hygroma (CH) fluid, highlighting the applications and importance of this procedure. First-trimester screening revealed an increased nuchal translucency measurement, cervical cystic hygroma and head and trunk subcutaneous edema. The presence of oligohydramnios prevented the performance of amniocentesis. We performed puncture of the CH for fetal karyotyping, which revealed X-chromosome monosomy (45,X), compatible with TS. Therefore, the use of CH fluid as an alternative sample for fetal karyotyping may be considered when conventional invasive procedures can not be performed.
RESUMO Relatamos o caso de um feto com síndrome de Turner (TS), diagnosticado por cariótipo de fluido do higroma cístico (CH), salientando as aplicações e a importância desse procedimento. Rastreio de primeiro trimestre revelou aumento da medida da translucência nucal, higroma cístico cervical e edema subcutâneo de cabeça e tronco. A presença de oligodrâmnio impediu a execução de amniocentese. Realizamos punção do CH para cariotipagem fetal, que revelou monossomia do cromossomo X (45,X), compatível com TS. Portanto, o uso de fluido do CH, como amostra alternativa para cariotipagem fetal, pode ser considerado quando procedimentos invasivos convencionais não podem ser realizados.
