ABSTRACT
O presente estudo buscou identificar a existência de anomalias cromossômicas registradas nos prontuários de nascidos vivos em uma maternidade. Estudo retrospectivo que analisou as informações contidas nos prontuários dos arquivos do Serviço de Arquivamento Médico de uma maternidade do estado do Amazonas entre janeiro de 2010 e dezembro de 2014, e estudou-se a correlação de anomalias cromossômicas presentes com características maternas e do nascido vivo. Analisou-se 15.621 prontuários, destes 163 apresentaram defeitos congênitos, 15 foram diagnosticados com síndromes cromossômicas distribuídas em três tipos de anomalias: 13 indivíduos com Síndrome de Down, um com Síndrome de Patau e um com Síndrome de Dany-Walker. Este é o primeiro registro de ocorrência e perfil dos nascimentos com anomalias cromossômicas em uma maternidade. O resultado é de grande importância para a saúde pública do Estado. A realização de novos estudos poderá fornecer um melhor panorama sobre diferentes doenças genéticas daquele estado (AU).
This study sought to identify the existence of chromosomal abnormalities recorded in the medical records of live-born infants in a maternity hospital. This retrospective study analyzed the information contained in the medical records of the archives of the Medical Archiving Service of a maternity hospital in Amazonas state between January 2010 and December 2014, with the correlation between the chromosomal abnormalities and the characteristics of the mothers and the live-born infants also studied. A total of 15,621 records were analyzed, of these 163 presented congenital defects, with 15 diagnosed with chromosomal syndromes, divided into three types of anomalies: 13 individuals with Down syndrome, one with Patau syndrome and one with Dandy-Walker syndrome. This is the first registration of the occurrence and profile of births with chromosomal abnormalities in a maternity hospital. The result is of great importance for the public health service of the state. The performance of further studies may provide a better overview of the different genetic diseases of this state (AU)
Este estudio tuvo la finalidad de identificar la existencia de anomalías cromosómicas registradas en los prontuarios de nacidos vivos en una maternidad. Estudio retrospectivo hecho por medio de análisis de informaciones contenidas en los prontuarios de los archivos del Servicio de Archivo Médico de una maternidad del estado de Amazonas entre enero de 2010 y diciembre de 2014. Fue examinada la correspondencia de anomalías cromosómicas presentes con características maternas y del nacido vivo. Se analizaron 15.621 prontuarios, de los cuales 163 presentaron defectos congénitos, 15 fueron diagnosticados con síndromes cromosómicas distribuidas en tres tipos de anomalías: 13 individuos con Síndrome de Down, un con Síndrome de Patau y un con Síndrome de Dany-Walker. Este es el primero registro de ocurrencia y perfil de los nacimientos con anomalías cromosómicas en una maternidad. El resultado tiene gran importancia para la salud pública del estado. La realización de nuevos estudios podrá traer un mejor panorama acerca de distintas enfermedades genéticas del estado (AU).
Subject(s)
Humans , Pregnancy , Infant, Newborn , Congenital Abnormalities , Pregnancy , Epidemiology, Descriptive , Live BirthABSTRACT
A criopreservação de oócitos contribuiu para o avanço das técnicas em reprodução humana nas últimas décadas. A metodologia tem sua aplicação na preservação da fertilidade, em programas de ovodoação, como estratégia para redução do número de embriões extranumerários criopreservados com manipulação de menor número de oócitos a fresco e para acúmulo de oócitos em ciclos com reduzida resposta ovariana. A partir do princípio de que todo cidadão tem direito a saúde, é dever do Estado garantir o acesso a todos os tipos de tratamento. O Centro de Referência da Saúde da Mulher Hospital Pérola Byington implantou a técnica de vitrificação de oócitos em 2010, aprimora os protocolos continuamente e busca melhores taxas de sobrevida, fertilização, clivagem e gestação. Relatamos as duas primeiras gestações, com nascimento, obtidas a partir de oócitos vitrificados em nosso Centro, que comprovam a viabilidade da aplicação dessa técnica e oferecem, assim, atendimento ao público com equidade e gratuidade integral.(AU)
The oocytes cryopreservation contributed substantially to a breakthough in Assisted Human Reproduction techniques over the last three decades. The methodology has been applied in the fertility preservation, through oocyte donation programmes, as strategy to reduce the number of supernumerary embryos cryopreserved by manipulating the least amount of fresh oocytes, and in the accumulation of oocytes in cycles with poor ovarian responders. Assuming the principle that every citizen has the right to health, it is the duty of the State to ensure access to all types of treatment. The Woman's Health Reference Center Pérola Byington Hospital has implemented the technique of oocytes vitrification since 2010, and has been improving our protocol continuously: aiming at improvements in the rates of survival, fertilization, cleavage and pregnancy. We reported the first two pregnancies, infants live born after oocytes vitrification, at our Center, proving the feasibility of the oocytes vitrification protocol applied, offering service to the public with equity and no cost for the patient.(AU)
Subject(s)
Humans , Female , Adult , Hospitals, Public , Oocytes , Reproductive Health Services , Reproductive Techniques, Assisted , VitrificationABSTRACT
OBJECTIVES: Birth defects are among the leading causes of infant mortality and morbidity in the Philippines. While affected infants make up a sizable portion of live births in General Santos City (GSC), no information is available about their actual numbers. This study aims to fill the knowledge gap about the prevalence and nature of congenital anomalies (CAs) and congenital metabolic disorders (CMDs) in the city from 2009 to 2012. METHODS: A retrospective study of in-patient records from six(6) medical facilities was done for CA/CMD cases from 2009-2012. Among the CMDs tested were congenital hypothyroidism (CH), congenital adrenal hyperlasia (CAH), galactosemia (GAL), hyperphenyalaninemia (HPA), phenylkentonuria (PKU) and glucose-6-phosphate dehydrogenase deficiency (G6PD def). RESULT: Collected data revealed 109 cases of CAs with limb deformities, oro-facial clefting and neural tube disorders comprising majority of cases. There were 878 reported cases of CMDs with glucose-6-phosphate dehydrogenase deficiency (G6PD def) as the most prevalent at 829 cases. There was also a preponderance of CAs/CMDs in a government hospital for the indigent. CONCLUSION: These result underscore the emergence of CAs and CMDs as a major health problem among newborns in GSC. Higher incidences of birth defects in one district hospital also reveal a tentative link between CA/CMD incidence and socioeconomic status. It is of paramount importance therefore, to undertake expansion of the newborn screening program and to establish local birth registries so that a more comprehensive and realistic picture of CA/CMD prevalence in the city will be obtained.
Subject(s)
Humans , Male , Female , Congenital Hypothyroidism , Galactosemias , Phenylketonurias , Congenital Abnormalities , PatientsABSTRACT
Aims: Interest in the distribution of birth weight arises because of the association between birth weight and the future health of the child. A common statistical result is that the birth weight distribution differs slightly from the Gaussian distribution. Methods: A standard attempt has been done to split the distribution into two components, a predominant Gaussian distribution and an unspecified “residual” distribution. Results: We considered birth weight data among triplets born in Finland in 1905-1959 and compare the birth weight among stillborn and live-born triplets. The stillbirth rates are 119.1 per 1000 births for males, 124.6 for females and 121.8 for all. The sex differences are not significant. The still birth rate for the period 1905-1930 was 119.5 and for the period 1931-1959, 124.2. We identified a strong association between birth weight of the triplets and their survival. The weight distribution for male triplets is described well by the Gaussian curve, while for females a slight deviation from the Gaussian distribution is discernible.