ABSTRACT
La red informatizada de salud SALGEN se utiliza desde el 2009 en la atención genética a la gestante y el recién nacido en la provincia de Sancti Spíritus, insertada en las facilidades de conexión en tiempo real entre todas las instituciones de salud que brinda INFOMED. Se han atendido 34 452 gestantes hasta septiembre 2015, realizando evaluación de riesgo genético, pesquisa de anemia de hematíes falciformes, dosificación de alfafetoproteína, diagnóstico prenatal citogenético, ultrasonido de cada trimestre, características del parto y del recién nacido, pesquisas metabólicas neonatales y evaluación genético clínica del lactante. El software brinda160 reportes que han permitido evaluar la calidad de todos los procederes del programa de la atención genética a gestantes y recién nacidos y otras acciones organizativas del programa de atención materno infantil además de indicadores evaluativos para ecografía prenatal de acuerdo a estándares internacionales que son visualizados online por los especialistas como forma de autoevaluación. Los resultados validan al sistema informático para su utilización a nivel de cualquier policlínico, municipio o provincia del país. Este trabajo tiene por objetivo evidenciar la utilidad de SALGEN en el perfeccionamiento de la atención genética a gestantes y recién nacidos y en el control de calidad de acciones del Programa de Atención Materno Infantil (PAMI)(AU)
The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen informatics platform since 2009 for health care, administrative and research activities oconcerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. Until September 2015 the platform has recorded 34 452 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, prenatal ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides 160 health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen can be use in any institution of primary health services, municipality or provinces of Cuba(AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Medical Informatics Applications , Child Health Services , Community Networks , Genetic Services/standards , CubaABSTRACT
La red informatizada de salud SALGEN se utiliza desde el 2009 en la atención genética a la gestante y el recién nacido en la provincia de Sancti Spíritus, insertada en las facilidades de conexión en tiempo real entre todas las instituciones de salud que brinda INFOMED. Se han atendido 34 452 gestantes hasta septiembre 2015, realizando evaluación de riesgo genético, pesquisa de anemia de hematíes falciformes, dosificación de alfafetoproteína, diagnóstico prenatal citogenético, ultrasonido de cada trimestre, características del parto y del recién nacido, pesquisas metabólicas neonatales y evaluación genético clínica del lactante. El software brinda160 reportes que han permitido evaluar la calidad de todos los procederes del programa de la atención genética a gestantes y recién nacidos y otras acciones organizativas del programa de atención materno infantil además de indicadores evaluativos para ecografía prenatal de acuerdo a estándares internacionales que son visualizados online por los especialistas como forma de autoevaluación. Los resultados validan al sistema informático para su utilización a nivel de cualquier policlínico, municipio o provincia del país. Este trabajo tiene por objetivo evidenciar la utilidad de SALGEN en el perfeccionamiento de la atención genética a gestantes y recién nacidos y en el control de calidad de acciones del Programa de Atención Materno Infantil (PAMI)(AU)
The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen informatics platform since 2009 for health care, administrative and research activities oconcerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. Until September 2015 the platform has recorded 34 452 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, prenatal ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides 160 health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen can be use in any institution of primary health services, municipality or provinces of Cuba(AU)
Subject(s)
Humans , Ultrasonography, Prenatal/methods , Genetic Services/standards , Genetic Services/trendsABSTRACT
The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen IT platform since 2009 for health care, administrative and research activities concerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. The platform has records for 23,025 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, first trimester ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, second trimester ultrasound, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen provides a new source of information for medical research and knowledge management, and its use in this case fulfills Cuba's criteria for an integrated health services network.
Subject(s)
Clinical Laboratory Information Systems/organization & administration , Genetic Services , Prenatal Diagnosis , Access to Information , Cuba , Female , Humans , Infant, Newborn , Organizational Case Studies , PregnancyABSTRACT
The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen IT platform since 2009 for health care, administrative and research activities concerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. The platform has records for 23,025 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, first trimester ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, second trimester ultrasound, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen provides a new source of information for medical research and knowledge management, and its use in this case fulfills Cuba's criteria for an integrated health services network(AU)
Subject(s)
Humans , Prenatal Diagnosis , Genetic Services/ethics , Pregnant Women/psychology , Genetics, Medical , Ultrasonography, Prenatal/ethics , Infant, NewbornABSTRACT
A cross-sectional study of traumatic brain injury patients was conducted at the Sancti Spíritus Provincial General Teaching Hospital in 2009 and 2010; the study population included all 16 traumatic brain injury patients who died during the period, plus 31 who survived to discharge. The following independent variables were used: Glasgow Coma Scale, Glasgow Coma Scale motor score, pupil reaction to light, blood glucose, respiratory distress, systolic blood pressure, hemoglobin, and lesions detectable on cranial computed tomography. Associations between independent and dependent variables (death or survival to discharge) were analyzed using the chi-square test and, for cells with expected values of 5, the Fisher exact test. Odds ratios and 95 percent confidence intervals were calculated(AU)
Subject(s)
Humans , Craniocerebral Trauma/complications , Craniocerebral Trauma/surgery , Severity of Illness Index , Coma/complications , Mortality , Glasgow Coma Scale , Prognosis , CubaABSTRACT
El síndrome Smith-Lemli-Opitz es un error congénito del metabolismo del colesterol ocasionado por una deficiencia de la enzima 7-dehidrocolesterol reductasa. Clínicamente se caracteriza por retraso mental y malformaciones congénitas, entre ellas la holoprosencefalia que ocurre en alrededor del 5(percent) de los pacientes. La mayoría de los casos reportados en la literatura tienen formas clásicas de holoprosencefalia y fenotipo severo de Smith-Lemli-Opitz y son homocigotos o heterocigotos compuestos para mutaciones que anulan la actividad enzimática. Se presenta una paciente que tiene un fenotipo ligero de Smith-Lemli-Opitz y un incisivo central único como manifestación mínima de holoprosencefalia. El estudio molecular demostró la presencia de dos mutaciones transmembranales, una de ellas no descrita con anterioridad, que preservan cierto grado de actividad funcional de la enzima. Se hipotetiza que otros factores genéticos fetales y/o maternos pueden haber contribuido a la expresión fenotípica (AU)
Subject(s)
Humans , Male , Female , Smith-Lemli-Opitz Syndrome , HoloprosencephalyABSTRACT
Los servicios de genética médica se iniciaron en Sancti Spíritus hace más de 20 años, con el objetivo de diagnosticar y prevenir los defectos congénitos y las enfermedades hereditarias. En esta investigación se hace un recuento de los principales resultados en la provincia durante este período. El programa de detección de portadoras de anemia por hematíes falciformes ha pesquisado hasta el 2007 un total de 147 216 gestantes. En los años analizados se han realizado 131 602 cuantificaciones de alfafetoptroteína en suero materno y se diagnosticaron 429 malformaciones fetales de mal pronóstico por ultrasonido. En la actualidad se realizan el diagnóstico prenatal citogenético al 92,1 (percent) de las gestantes de 37 años o más. El programa de pesquisa neonatal de errores innatos del metabolismo ha incluido el estudio de 114 625 recién nacidos y se han diagnosticado cuatro pacientes afectados por fenilcetonuria. La atención clínica a pacientes y familias con enfermedades genéticas ha sido un objetivo fundamental de la especialidad en la provincia (AU)
Subject(s)
Humans , Male , Female , Congenital Abnormalities/genetics , Genetic Diseases, Inborn/genetics , Prenatal Diagnosis , Mandatory Testing , Cytogenetic AnalysisABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive MCA-MR disorder caused by mutations within the 7-dehydrocholesterol reductase gene, DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7-dehydrocholesterol (7DHC) levels. It is a panethnic condition with variable mutation frequencies in different populations. Ten Cuban patients and four Canadian patients of Mediterranean ancestry with SLOS are reported herein. All these patients are at the mild end of the clinical spectrum (the highest Kelley-Hennekam severity score was 28 in one patient). All patients had genotypes which were compound heterozygous or homozygous for T93M; in all the Mediterranean patients the T93M mutation appeared to be associated with the J haplotype. Another compound heterozygote for T93M was of Ukrainian/Irish ancestry; in this patient the T93M was associated with a new haplotype designated K. The T93M mutation was initially reported as the most common in a series of patients from Italy. Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect.
Subject(s)
Founder Effect , Haplotypes/genetics , Mutation, Missense/genetics , Oxidoreductases Acting on CH-CH Group Donors/genetics , Smith-Lemli-Opitz Syndrome/genetics , Adolescent , Adult , Alleles , Child , Child, Preschool , Dehydrocholesterols/blood , Female , Genotype , Heterozygote , Homozygote , Humans , Male , Pregnancy , Smith-Lemli-Opitz Syndrome/diagnosisABSTRACT
Se valora el programa de diagnóstico prenatal por A.F.P. Se comentan los resultados considerados falsos positivos. Se indica el diagnóstico de las malformaciones encontradas y su distribución por meses. Se muestra la frecuencia de D.T.N. y se destaca la importancia del programa que representó aproximadamente un 1,4 0/00 de disminución en la tasa de mortalidad infantil de la provincia
Subject(s)
alpha-Fetoproteins , Congenital Abnormalities/diagnosis , Prenatal DiagnosisABSTRACT
Se valora el programa de diagnóstico prenatal por A.F.P. Se comentan los resultados considerados falsos positivos. Se indica el diagnóstico de las malformaciones encontradas y su distribución por meses. Se muestra la frecuencia de D.T.N. y se destaca la importancia del programa que representó aproximadamente un 1,4 0/00 de disminución en la tasa de mortalidad infantil de la provincia(AU)
