Directory of Open Access Journals Sweden. The Fragile X syndrome is the genetic entity that is the first cause of hereditary mental retardation characterized by a very peculiar physical and psychoneuroconductal phenotype. Innumerable studies, including the immunohistochemical techniques, have been conducted aimed at dilucidating the gene's function and the localization of the protein that it codified related to this affection. The immunohistochemical techique was used in order to detect individuals at genetical risk for presenting Fragile X syndrome by neonatal screening in 14 months.
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Directory of Open Access Journals Sweden. The Fragile X syndrome is the genetic entity that is the first cause of hereditary mental retardation characterized by a very peculiar physical and psychoneuroconductal phenotype. Innumerable studies, including the immunohistochemical techniques, have been conducted aimed at dilucidating the gene's function and the localization of the protein that it codified related to this affection.
The immunohistochemical techique was used in order to detect individuals at genetical risk for presenting Fragile X syndrome by neonatal screening in 14 months.
A total of 2 male infants were screened of whom 2 showed histochemical results. Their psychomotor development was exhaustively evaluated for 3 years and it was normal. The disease was not detected in any individual. The congenital errors of metabolism integrate a very heterogeneous group of diseases of genetic cause affecting mainly the infantile population. The diagnosis may be made in the early neonatal period or in children at risk for suffering from this disease.
The results obtained in our lab during 15 years are presented in this paper. It was thought that a child had a variant of galactosemia known as Duarte. A selective study of children with presumptive congenital errors of metabolism was conducted, and 3. The most frequent disease among them was mucopolysacharidosis. It was proved that the use of the conventional technology and a good cooperation of the physician allowed to make the diagnosis in a great number of children with some congenital error of metabolism.
Pesquisaje de glaucoma. Two patients having glaucoma family history were referred to the specialist at the Provincial General Teaching Hospital of Moron in order to confirm the diagnosis. Determination of serum lipoproteins is an interesting assessment for the investigation of hyperlipoproteinemia. It is very important to count on a fast and simple method, and with a reliable reagent, to secure such assessment.
Finlay" biological products enterprise, and these results are compared with a reagent kit for cholesterol determination, with the aim for analysing their correlation.
The outcomes were satisfactory. The correlation rate was 0, El sistema. Calidad del transporte neonatal en el Valle del Cauca: un reto para salud. It is stressed that randomly chosen women over 20 were included in the sample, who were screened and applied a survey.
Serological methods: an efficient option. The systematic study of children with growth retardation is essential in the work of the paediatric endocrinologist.
There have been identified multiple causes of short stature along the years, and the celiac disease CD is added to the immense list of disease of genetic, endocrine, osteomyoarticular, cardiovascular respiratory and gastrointestinal origin, just to remember some of them.
It has been proved that the active search of CD in these patients is very important, even when there are no gastrointestinal manifestations. Screening programs carried out in the population show that there is a subregister of CD, and recent studies have allowed to. Surfacen is an organic extract obtained from the pulmonary lavage of pigs. A significant improvement of the pulmonary function has been observed in inmature newborn lambs to days of pregnancy.
Later on, Surfacen was used in 23 preterm human neonates average weight of 1 g and These neonates had an inspired oxygen fraction 0. The results were as follows: the arterial pressure of oxygen increased significantly more than 9,3 kPa one hour after the administration of. La tasa de mortalidad en el sistema extensivo fue del Cuatro cepas de Staphylococcus spp. Este estudio demostr. METHODS: A descriptive, retrospective and longitudinal study was conducted on early neonatal mortality behavior in a sample of 49 deceases.
Maternal and newborn variables were analyzed whose data were obtained from death medical records and clinical records. Tuberculosis neonatal. METHODS: The study of strain susceptibility was carried out by microdilution in broth, and the checkerboard method in broth trays was used to assess the efficacy of antibiotic combination therapy.
Demandas y control del trabajo: implicaciones en las unidades de tratamiento intensivo pediatrico y neonatal. Utilizou-se o Job Content Questionnarie. Para reducir la TMI post- neonatal se debe obrar en la calidad del agua potable. La primera sugerencia es que en cada distrito debe haber un claro responsable y proveedor del agua potable.
Factores de riesgo asociados a osteopenia del prematuro en una terapia intensiva neonatal de referencia. Los datos fueron almacenados en una base de datos en Microsoft Excel , y procesados mediante el programa Statistica 4. Las variables fueron resumidas mediante frecuencias absolutas y relativas porcentuales. Introduction: early atherosclerotic signs have been identified as a top priority of investigation to the Research Center and Reference of Atherosclerosis in Havana Province.
Objective: to screen early atherosclerotic signs in children from 6 to 11 years old. Material and Method: an observational, descriptive and cross-sectional study was conducted in children apparently healthy enroll at "Salvador Gonzalez Delgado" elementary school, belonging to "Hermanos Cruz" health area in Pinar del Rio.
Factores de riesgo. The nosocomial infection and time of being infected were recorded in a form, as well as the vascular approach, artificial ventilation and isolated germs, among others. A data base using the Microsoft Excel 97 software was designed, and chi-square test was used, both of them with a confidence interval of p Ictericia Neonatal.
Se consid Cross-sectional study with 37 doctors and 20 nurses. We used the Job Content Questionnarie. Rev Cuid ; 2. Neonatal Death. What is neonatal death? Neonatal death is when a baby dies in These children and their parents filled out two survey forms, where a series of selected date were collected and used later to have the history of each child.
All this information was processed by computer. This is a cross-sectional quantitative study quantitative held in the rooming area of a medium-sized hospital in the hinterlands of Paran. Full Text Available Objetivo.
Se analizaron antecedentes maternos. To establish the relationship of normal, low, and moderate blood iron values in mothers and their newborns. Material and Methods. The mothers' clinical histories were collected and analyzed; hemoglobin. Es un estudio cualitativo, descriptivo, exploratorio.
Expectativas de los padres frente al cuidado del neonato. Los padres aprenden de las os enfermeras os. Full Text Available Fundamentos. This study aimed to understand the fathers' experiences during the hospitalization of premature newborn in the Neonatal Intensive Care Unit at a public hospital in Feira de Santana, Bahia. This is a qualitative descriptive exploratory study that was approved by the Ethics Committee of the Faculty of Technology and Sciences, and. Determinar el riesgo de mortalidad neonatal por edad gestacional y el peso al nacer.
El RA de mortalidad observado en neonatos de entre 34 a 44 semanas y peso mayor o igual a 2 g fue de 0. To determine the neonatal mortality risk according to gestational age and birth weight.
All new-borns discharged from the hospital between January 1 st , and October 31 st , were included in the study. Birth weight, gestational age, and conditions upon discharge were recorded. Absolute risk AR of mortality was calculated for each week-of-gestation- and birth group. Observed AR in newborns 34 to 44 weeks of gestational age and weighing at least 2 g was 0. AR of. Los profesionales se ven involucrados con la familia que vivencia el duelo.
Sobre pacientes, se realizaron cultivos con hisopado vaginal y anal a Neonatal hypertension. Neonatal hypertension HT is a frequently under reported condition and is seen uncommonly in the intensive care unit. It has been diagnosed long back but still is the least studied field in neonatology. There is still lack of universally accepted normotensive data for neonates as per gestational age, weight and post-natal age.
Neonatal HT is an important morbidity that needs timely detection and appropriate management, as it can lead to devastating short-term effect on various organs and also poor long-term adverse outcomes. There is no consensus yet about the treatment guidelines and majority of treatment protocols are based on the expert opinion. Neonate with HT should be evaluated in detail starting from antenatal, perinatal, post-natal history, and drug intake by neonate and mother.
This review article covers multiple aspects of neonatal hypertension like definition, normotensive data, various etiologies and methods of BP measurement, clinical features, diagnosis and management. Neonatal retinoblastoma. In developing countries, neonatal diagnosis of retinoblastoma has been less common. Neonatal retinoblastoma generally develops from a germline mutation of RB1, the retinoblastoma gene, even when the family history is negative and is thus usually hereditary. At least one-half of infants with neonatal retinoblastoma have unilateral tumors when the diagnosis is made, typically the International Intraocular Retinoblastoma Classification Murphree Group B or higher, but most germline mutation carriers will progress to bilateral involvement, typically Group A in the fellow eye.
Neonatal leukokoria usually leads to the diagnosis in children without a family history of retinoblastoma, and a Group C tumor or higher is typical in the more advanced involved eye. Almost all infants with neonatal retinoblastoma have at least one eye with a tumor in proximity to the foveola, but the macula of the fellow eye is frequently spared.
Infecciones TORCH y gestación
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Disponemos de diversas herramientas que nos permiten diagnosticar infecciones fetales. Es Sd. Si se produce durante el embarazo:. Tiene muchas dudas sobre lo que puede y no puede hacer.
Vacinas durante a gravidez 25 , 26? Meses depois surgiram os primeiros casos de microcefalia. Os estudos de Brasil et al. Contudo, rapidamente os resultados de estudos foram agregando conhecimento. Nenhum controle neonatos sem microcefalia foi positivo para o ZIKV. Esse tipo de pergunta deve ser respondida pelos estudos de seguimento em andamento