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1.
Medisan ; 26(4)jul.-ago. 2022. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1405826

RESUMO

Introducción: El nacimiento de personas con hemoglobinas SS y SC promovió la creación en Cuba de un programa de prevención que incluye el diagnóstico prenatal de estas hemoglobinopatías. Objetivo: Mostrar el impacto del diagnóstico prenatal en la incidencia de anemia drepanocítica y de enfermedad heterocigótica compuesta SC. Métodos: Se realizó un estudio descriptivo, retrospectivo, de corte transversal, en el Departamento Provincial de Genética Médica del Hospital Docente Infantil Sur Dr. Antonio María Béguez César en Santiago de Cuba, que abarcó un período de tres decenios más un sexenio (de 1984 a 2019), de los 713 fetos y niños en los que se detectó anemia de células falciformes. Para establecer el diagnóstico prenatal se realizó electroforesis de hemoglobina a las embarazadas -durante los primeros años con el equipo Habana y a partir del 2012 con la tecnología Hydrasys-. Resultados: Del total de casos diagnosticados, se interrumpió el embarazo en 44,3 %, con un incremento significativo de los abortos provocados por esta causa al transcurrir los años, a saber: 23,7 % en el primer decenio, 46,1 % en el segundo y 68,1 % en el tercero; mientras que en el período 2014-2019 fue de 59,3 %. Por consiguiente, disminuyó el nacimiento de niños enfermos de 76,3 % en los inicios del estudio a 53,9 y 31,9 % en el segundo y tercero decenios, respectivamente, y por último a 40,7 % en el sexenio. Conclusiones: El diagnóstico prenatal de la anemia de células falciformes SS y la enfermedad heterocigótica compuesta SC constituye el pilar fundamental para la prevención de estas hemoglobinopatías.


Introduction: The birth of people with SS and SC hemoglobine justified the creation of a prevention program in Cuba which includes the antenatal diagnosis of these hemoglobinopathies. Objective: To show the impact of the antenatal diagnosis in the incidence of sickle-cell anemia and of the composed heterocigotic disease SC. Methods: A descriptive restrospective and cross-sectional study was carried out in the Provincial Department of the Teaching Southern Pediatric Hospital Antonio María Béguez César in Santiago de Cuba, which included three decades and a sexennium (from 1984 to 2019), of the 713 fetuses and children in whom sickell-cell anemia was diagnosed. To establish the prenatal diagnosis, hemoglobine electrophoresis to all pregnant women, -During the first years with Havana equipment and from 2012 on, with the technology Hydrasys-. Results: From the total of diagnosed cases, pregnancy was interrupted in 44,3 %, with a significant increase of aborptions provoked due to this cause with the passing of years: 23.7 % in the first decenium, 46.1 in the second and 68.1 % in the third, while in the period 2014-2019 it was 59.3 %. Due to this, the births of sick children to from 76.3 % at the beggining of the study to 53.9 and 31.9 respectively, and finally to 40.7 % in the sexenium 2014-2019. Conclusions: The prenatal diagnosis of sickel-cell anemia SS and SC constitutes the key stone for the prevention of these hemoglobinopathies.


Assuntos
Hemoglobinopatias , Anemia Falciforme , Planos e Programas de Saúde , Doença da Hemoglobina SC
2.
Medisan ; 26(2)abr. 2022. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1405794

RESUMO

El control interno de calidad en el laboratorio clínico es una actividad especializada que monitoriza la calidad de los procesos y resultados, a la vez que permite aceptar o rechazar las corridas analíticas de las diferentes determinaciones. A tales efectos, se presentan los elementos de una guía práctica incluida en un software, diseñada con el objetivo de perfeccionar el control interno de la calidad en dichos laboratorios, donde se definen los principios y conceptos claves del tema, los procedimientos y su secuencia, los requisitos de calidad, las reglas de control, los cálculos estadísticos, la interpretación de los resultados, así como algunos de los indicadores novedosos y necesarios para asegurar la calidad.


The internal control of quality in the clinical laboratory is a specialized activity that monitors the quality of the processes and results at the same time that it allows to accept or to reject the analytic runs on the different determinations. To such effects, the elements of a practical guide included in a software are presented, designed with the objective of perfecting the internal control of the quality in these laboratories, where the principles and key concepts of the topic, procedures and their sequence, requirements of quality, control rules, statistical calculations, the interpretation of the results are defined, as well as some of the novel and necessary indicators to assure the quality.


Assuntos
Gestão da Qualidade Total , Laboratórios Clínicos , Controle de Qualidade
3.
Public Health Rep ; 135(1_suppl): 149S-157S, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32735185

RESUMO

OBJECTIVE: Federal funds have been spent to reduce the disproportionate effects of HIV/AIDS on racial/ethnic minority groups in the United States. We investigated the association between federal domestic HIV funding and age-adjusted HIV death rates by race/ethnicity in the United States during 1999-2017. METHODS: We analyzed HIV funding data from the Kaiser Family Foundation by federal fiscal year (FFY) and US age-adjusted death rates (AADRs) by race/ethnicity (Hispanic, non-Hispanic white, non-Hispanic black, and Asian/Pacific Islander and American Indian/Alaska Native [API+AI/AN]) from Centers for Disease Control and Prevention WONDER detailed mortality files. We fit joinpoint regression models to estimate the annual percentage change (APC), average APC, and changes in AADRs per billion US dollars in HIV funding, with 95% confidence intervals (CIs). For 19 data points, the number of joinpoints ranged from 0 to 4 on the basis of rules set by the program or by the user. A Monte Carlo permutation test indicated significant (P < .05) changes at joinpoints, and 2-sided t tests indicated significant APCs in AADRs. RESULTS: Domestic HIV funding increased from $10.7 billion in FFY 1999 to $26.3 billion in FFY 2017, but AADRs decreased at different rates for each racial/ethnic group. The average rate of change in AADR per US billion dollars was -9.4% (95% CI, -10.9% to -7.8%) for Hispanic residents, -7.8% (95% CI, -9.0% to -6.6%) for non-Hispanic black residents, -6.7% (95% CI, -9.3% to -4.0%) for non-Hispanic white residents, and -5.2% (95% CI, -7.8% to -2.5%) for non-Hispanic API+AI/AN residents. CONCLUSIONS: Increased domestic HIV funding was associated with faster decreases in age-adjusted HIV death rates for Hispanic and non-Hispanic black residents than for residents in other racial/ethnic groups. Increasing US HIV funding could be associated with decreasing future racial/ethnic disparities in the rate of HIV-related deaths.


Assuntos
Etnicidade/estatística & dados numéricos , Infecções por HIV/etnologia , Infecções por HIV/mortalidade , Prevenção Primária/economia , Grupos Raciais/estatística & dados numéricos , Síndrome da Imunodeficiência Adquirida/etnologia , Síndrome da Imunodeficiência Adquirida/mortalidade , Humanos , Estados Unidos
4.
Medisan ; 23(3)mayo.-jun. 2019. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1091099

RESUMO

Se realizó una investigación experimental, retrospectiva y longitudinal en el Laboratorio Clínico del Hospital Oncológico Docente Provincial Conrado Benítez García de Santiago de Cuba, con vistas a evaluar la calidad de los procesos analíticos por medio del cálculo del error total y la métrica seis sigma, para lo cual se tomaron los parámetros de glucemia, colesterol, gammaglutamil transferasa y alanina aminotransferasa, registrados en el control de calidad interno mensual durante el año 2017. La evaluación de cada medición química se había efectuado con dos controladores: Elitrol 1 y Elitrol 2. En más de 90 % de los meses fue aceptable la competencia en la determinación de los analitos controlados, excepto en la glucemia 1; así mismo existió un desempeño aceptable en las mediciones de la gammaglutamil transferasa y la alanina aminotransferasa, mientras que la glucemia y el colesterol mostraron el nivel inferior. Se concluyó que el cálculo del error total y la métrica seis sigma fortalecen el control de la calidad interno, garantizan la calidad de los resultados través del laboratorio clínico y, con ello, la calidad de la asistencia médica a los pacientes.


An experimental, retrospective and longitudinal investigation was carried out in the Clinical Laboratory of Conrado Benítez García Teaching Provincial Oncological Hospital in Santiago de Cuba, with the aim of evaluating the quality of the analytic processes by means of the total error calculation and the sigma six metrics, for which the glycemia, cholesterol, gammaglutamyl transferase and alanina aminotransferase parameters were used, registered in the monthly internal quality control during the year 2017. The evaluation of each chemical measurement had been carried out with two controllers: Elitrol 1 and Elitrol 2. In more than 90 % of the months, the competence in the determination of the controlled analyte was acceptable, except in the glycemia 1; also an acceptable performance existed in the mensurements of the gammaglutamyl transferase and the alanina aminotransferase, while the glycemia and the cholesterol showed the lower level. It was concluded that the calculation of the total error and the sigma six metrics strengthen the control of the inner quality, they guarantee the quality of the results through the clinical laboratory and, thus, the quality of the medical care to the patients.


Assuntos
Controle de Qualidade , Erros de Diagnóstico , Serviços de Laboratório Clínico
6.
J Infect Chemother ; 21(9): 663-7, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26141814

RESUMO

Antifungal prophylaxis is routinely given to patients with hematologic malignancies at high risk for invasive fungal infections (IFI), yet breakthrough IFI may still occur. Posaconazole emerged as an excellent alternative for fungal prophylaxis in high-risk patients. There is limited data about pharmacokinetics and plasma concentrations of posaconazole when given as prophylaxis in patients with hematologic malignancies. We recruited 20 adult patients for prospective, open label trial of posaconazole given as a prophylaxis in patients with newly diagnosed acute myeloid leukemia (AML) undergoing induction chemotherapy or first salvage therapy. The median age of all patients was 65 years and received prophylaxis for a median of 38 days (range: 5-42 days).Ten patients (50%) completed 42 days on posaconazole prophylaxis. Median plasma posaconazole levels showed no statistical difference across gender, body surface area, patients developing IFI, and patients acquiring grade 3 or 4 elevation of liver enzymes. However, there was an overall trend for higher trough concentrations among patients with no IFI than those with IFI. Pharmacokinetics of posaconazole varies from patient to patient, and AML patients receiving induction chemotherapy who never develop IFI tend to have higher plasma concentrations after oral administration of posaconazole.


Assuntos
Antifúngicos/farmacocinética , Leucemia Mieloide Aguda/sangue , Micoses/prevenção & controle , Triazóis/farmacocinética , Adulto , Idoso , Antifúngicos/efeitos adversos , Antifúngicos/sangue , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Feminino , Humanos , Quimioterapia de Indução , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Terapia de Salvação , Triazóis/efeitos adversos , Triazóis/sangue
7.
Medisan ; 18(11)dic. 2014. ilus
Artigo em Espanhol | CUMED | ID: cum-58510

RESUMO

Se describe el caso clínico de un lactante primogénito de 3 meses de edad, que había sido evaluado por un especialista de Genética Clínica en el Hospital Infantil Norte Dr Juan de la Cruz Martínez Maceira de Santiago de Cuba, por presentar hendidura del tercio inferior del esternón. Posteriormente aparecieron hemangiomas en el labio inferior, el lóbulo de la oreja derecha y la parte lateral derecha del cuello, así como un rafe abdominal medio desde la hendidura esternal hasta el ombligo. Se practicaron los exámenes complementarios requeridos y se interconsultó con varias especialidades, con lo cual se concluyó que el paciente presentaba una asociación de malformación esternal y displasia vascular. Se trata del primer caso notificado en Cuba(AU)


The clinical case of a 3 months first-born infant is described who had been evaluated by a specialist of Clinical Genetics in Dr Juan de la Cruz Martínez Maceira Northern Pediatric Hospital in Santiago de Cuba, for presenting a fissure in the inferior third of the sternum. Later on hemangiomas emerged in the inferior lip, the lobe of the right ear and the lateral right part of the neck, as well as a mid abdominal raphe from the sternal fissure to the navel. The required complementary tests were carried out and she was scheduled for several specialties, with which it was concluded that the patient presented an association of sternal malformation and vascular dysplasia. It is the first case notified in Cuba(AU)


Assuntos
Humanos , Masculino , Lactente , Malformações Vasculares , Esterno/anormalidades , Hemangioma , Núcleos da Rafe/anormalidades , Pesquisa em Genética
8.
Medisan ; 18(11)nov.-nov. 2014. ilus
Artigo em Espanhol | LILACS, CUMED | ID: lil-728437

RESUMO

Se describe el caso clínico de un lactante primogénito de 3 meses de edad, que había sido evaluado por un especialista de Genética Clínica en el Hospital Infantil Norte "Dr. Juan de la Cruz Martínez Maceira" de Santiago de Cuba, por presentar hendidura del tercio inferior del esternón. Posteriormente aparecieron hemangiomas en el labio inferior, el lóbulo de la oreja derecha y la parte lateral derecha del cuello, así como un rafe abdominal medio desde la hendidura esternal hasta el ombligo. Se practicaron los exámenes complementarios requeridos y se interconsultó con varias especialidades, con lo cual se concluyó que el paciente presentaba una asociación de malformación esternal y displasia vascular. Se trata del primer caso notificado en Cuba.


The clinical case of a 3 months first-born infant is described who had been evaluated by a specialist of Clinical Genetics in "Dr. Juan de la Cruz Martínez Maceira" Northern Pediatric Hospital in Santiago de Cuba, for presenting a fissure in the inferior third of the sternum. Later on hemangiomas emerged in the inferior lip, the lobe of the right ear and the lateral right part of the neck, as well as a mid abdominal raphe from the sternal fissure to the navel. The required complementary tests were carried out and she was scheduled for several specialties, with which it was concluded that the patient presented an association of sternal malformation and vascular dysplasia. It is the first case notified in Cuba.


Assuntos
Esterno/anormalidades , Hemangioma , Anormalidades Congênitas , Hospitais Pediátricos , Lactente
9.
Medisan ; 17(5)may. 2013. tab, ilus
Artigo em Espanhol | CUMED | ID: cum-54424

RESUMO

Se realizó un estudio descriptivo y transversal de 284 madres solteras con hemoglobinopatía detectada en el embarazo, en las cuales se desconocía la condición de pareja de alto riesgo por no haberse estudiado al esposo, atendidas en el Centro Provincial de Genética de Santiago de Cuba durante el quinquenio 2007-2011, con vistas a detectar la morbilidad oculta por drepanocitemia de tipos SS y SC en sus hijos, cuyas edades oscilaban entre 6 y 7 meses de edad. De los 180 niños estudiados (63,4 por ciento), 5 resultaron enfermos (3 SS y 2 SC). Se brindó atención especializada a los afectados y asesoramiento a la madre y a los familiares. Se insiste en el desarrollo de programas que incrementen la cultura genética en la población, así como la asunción de una paternidad responsable(AU)


A descriptive and cross-sectional study of 284 single mothers with hemoglobinopathies detected in pregnancy, in whom the couple's high risk was ignored as the husband had not been studied, and who were assisted in the Provincial Center of Genetics in Santiago de Cuba was carried out during the five year period 2007-2011, with the objective of detecting the hidden morbidity caused by sickle cell anemia types SS and SC in their children, whose ages ranged from 6 to 7 months of age. Of 180 studied children (63.4 percent) 5 were sick (3 SS and 2 SC). Specialized care was given to the affected ones and advice to the mother and the relatives. It is insisted in the development of programs that increase the genetic culture in the population as well as the assumption of a responsible paternity(AU)


Assuntos
Humanos , Feminino , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Anemia Falciforme , Diagnóstico Pré-Natal , Pais Solteiros , Aconselhamento Genético , Epidemiologia Descritiva , Estudos Transversais
10.
Medisan ; 17(5)mayo 2013. ilus, tab
Artigo em Espanhol | LILACS, CUMED | ID: lil-677565

RESUMO

Se realizó un estudio descriptivo y transversal de 284 madres solteras con hemoglobinopatía detectada en el embarazo, en las cuales se desconocía la condición de pareja de alto riesgo por no haberse estudiado al esposo, atendidas en el Centro Provincial de Genética de Santiago de Cuba durante el quinquenio 2007-2011, con vistas a detectar la morbilidad oculta por drepanocitemia de tipos SS y SC en sus hijos, cuyas edades oscilaban entre 6 y 7 meses de edad. De los 180 niños estudiados (63,4 %), 5 resultaron enfermos (3 SS y 2 SC). Se brindó atención especializada a los afectados y asesoramiento a la madre y a los familiares. Se insiste en el desarrollo de programas que incrementen la cultura genética en la población, así como la asunción de una paternidad responsable.


A descriptive and cross-sectional study of 284 single mothers with hemoglobinopathies detected in pregnancy, in whom the couple's high risk was ignored as the husband had not been studied, and who were assisted in the Provincial Center of Genetics in Santiago de Cuba was carried out during the five year period 2007-2011, with the objective of detecting the hidden morbidity caused by sickle cell anemia types SS and SC in their children, whose ages ranged from 6 to 7 months of age. Of 180 studied children (63.4%) 5 were sick (3 SS and 2 SC). Specialized care was given to the affected ones and advice to the mother and the relatives. It is insisted in the development of programs that increase the genetic culture in the population as well as the assumption of a responsible paternity.


Assuntos
Hemoglobinopatias , Lactente , Anemia Falciforme , Diagnóstico Pré-Natal , Planejamento Familiar
11.
J Biomed Mater Res B Appl Biomater ; 92(2): 525-34, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20024965

RESUMO

Endosseous dental implants use is increasing in patients with systemic conditions that compromise wound healing. Manufacturers recently have redesigned implants to ensure more reliable and faster osseointegration. One design strategy has been to create a porous phosphate-enriched titanium oxide (TiUnite) surface to increase surface area and enhance interactions with bone. In the current study, the corrosion properties of TiUnite implants were studied in cultures of monocytic cells and solutions simulating inflammatory and hyperglycemic conditions. Furthermore, to investigate whether placement into bone causes enough mechanical damage to alter implant corrosion properties, the enhanced surface implants as well as machined titanium implants were placed into human cadaver mandibular bone, the bone removed, and the corrosion properties measured. Implant corrosion behavior was characterized by open circuit potentials, linear polarization resistance, and electrical impedance spectroscopy. In selected samples, THP1 cells were activated with lipopolysaccharide prior to implant exposure to simulate an inflammatory environment. No significant differences in corrosion potentials were measured between the TiUnite implants and the machined titanium implants in previous studies. TiUnite implants exhibited lower corrosion rates in all simulated conditions than observed in PBS, and EIS measurements revealed two time constants which shifted with protein-containing electrolytes. In addition, the TiUnite implants displayed a significantly lower corrosion rate than the machined titanium implants after placement into bone. The current study suggests that the corrosion risk of the enhanced oxide implant is lower than its machined surface titanium implant counterpart under simulated conditions of inflammation, elevated dextrose concentrations, and after implantation into bone.


Assuntos
Implantes Dentários , Hiperglicemia/patologia , Inflamação/patologia , Fosfatos/química , Titânio/química , Osso e Ossos/patologia , Cadáver , Linhagem Celular , Corrosão , Eletroquímica , Eletrólitos , Glucose/farmacologia , Humanos , Lipopolissacarídeos/farmacologia , Mandíbula/patologia , Microscopia Eletrônica de Varredura , Microscopia de Polarização , Monócitos/química , Monócitos/metabolismo , Estresse Mecânico , Propriedades de Superfície , Cicatrização
12.
Pediatrics ; 124(2): 649-57, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19651583

RESUMO

OBJECTIVES: The goals of this study were to describe nutritional practices in the first month of life for a large cohort of extremely low gestational age newborns and to determine the impact of these nutritional practices on growth velocity (GV) over the same period. METHODS: The sample included 1187 infants born at 23 to 27 weeks of gestation, at 14 institutions, between 2002 and 2004. Inclusion criteria included survival until day 28 and weight information for days 7 and 28. GV, expressed as grams per kilogram per day, was calculated for the interval between days 7 and 28. Nutritional practices during the first week and on days 14, 21, and 28 were compared with current nutritional guidelines in the literature. Multivariable logistic regression models estimated the contribution of limited nutrition to limited GV. RESULTS: Protein and fat delivery approximated current nutritional recommendations, whereas carbohydrate and total energy intake delivery did not. Despite this, GV of our study infants exceeded the current guideline of 15 g/kg per day. Nevertheless, we found extrauterine growth restriction (ie, weight for gestational age below the 10th centile) in 75% of the infants at 28 days, compared with only 18% at birth. A GV of 20 to 30 g/kg per day was associated with infants' maintaining or exceeding their birth weight z score, with rates in the upper range for the gestationally youngest infants. Early (day 7) nutritional practices were positively associated with GV measured between days 7 and 28. CONCLUSION: The early provision of nutrients is an important determinant of postnatal growth. Extrauterine growth restriction remains high in extremely premature infants even when they achieve a GV rate within current guidelines.


Assuntos
Peso Corporal , Nutrição Enteral , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Terapia Intensiva Neonatal/métodos , Avaliação Nutricional , Nutrição Parenteral Total , Estudos de Coortes , Carboidratos da Dieta/administração & dosagem , Gorduras na Dieta/administração & dosagem , Proteínas Alimentares/administração & dosagem , Ingestão de Energia , Feminino , Seguimentos , Solução Hipertônica de Glucose/administração & dosagem , Fidelidade a Diretrizes , Humanos , Recém-Nascido , Masculino , Estados Unidos
13.
J Biomed Mater Res B Appl Biomater ; 88(2): 474-81, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18561292

RESUMO

The effects of hyperglycemia, altered cell function, or inflammatory mediators on implant corrosion are not well studied; yet, these effects are critical to implant biocompatibility and osseointegration. Because implant placement is burgeoning, patients with medically compromising systemic conditions such as diabetes are increasingly receiving implants, and the role of other inflammatory diseases on implant corrosion also needs investigation. In the current study, the corrosion properties of commercially available, machined titanium implants were studied in blood, cultures of monocytic cells, and solutions containing elevated dextrose concentrations. Implant corrosion was estimated by open circuit potentials, linear polarization resistance, and electrical impedance spectroscopy (EIS) for 26 h. In selected samples, THP1 monocytic cells were activated for 2 h with Lipopolysaccharide prior to implant exposure, and IL-1beta secretion was measured to assess the affect of the implants on monocyte activation. Implants under conditions of inflammatory stress exhibited more negative E(corr) values, suggesting an increased potential for corrosion. Linear polarization measurements detected increased corrosion rates in the presence of elevated dextrose conditions over PBS conditions. EIS measurements suggested that implants underwent surface passivation reactions that may have limited corrosion over the short term of this test. This result was supported by cyclic polarization tests. IL-1beta secretion was not altered under conditions of corrosion or implant exposure. The results suggest that inflammatory stress and hyperglycemia may increase the corrosion of dental endosseous titanium-based implants, but that longer, more aggressive electrochemical conditions may be necessary to fully assess these effects.


Assuntos
Implantes Dentários , Titânio/química , Linhagem Celular , Corrosão , Humanos , Inflamação , Teste de Materiais
14.
Artigo em Espanhol | CUMED | ID: cum-73422

RESUMO

Se describen los principales resultados del programa de prevención de enfermedades genéticas y malformaciones congénitas en la provincia de Santiago de Cuba en el período de 1985-2007. El programa de detección de variantes de hemoglobinopatías alcanzó una obertura del 98,34 (percent)de las embarazadas en el último quinquenio. El pesquisaje de malformaciones congénitas, que se realiza mediante la prueba de alfafetoproteína en suero materno y ultrasonido, permitió detectar malformaciones del sistema nervioso central, renal y cardiovascular, lo que constituyó el 47,48(percent). El diagnóstico citogenético permitió obtener un 1,72 (percent) de casos positivos en los estudios prenatales, donde la principal indicación fue la edad materna igual o mayor a 37 años. En los estudios posnatales se obtuvo un 11,9 (percent) de casos positivos. El diagnóstico prenatal citogenético ha modificado la prevalencia al nacimiento de las aberraciones cromosómicas. En el servicio de Genética Clínica se atendieron anualmente, como promedio, 530 casos, en los que las principales etiologías identificadas fueron las monogénicas, las multifactoriales y las cromosómicas. Además, se ha incorporado la evaluación de familias con enfermedades complejas como asma, diabetes e hipertensión. A través de los Másteres en Asesoramiento Genético se han establecido estrategias de intervención para abordar las enfermedades de origen genético. En las pesquisas neonatales se han atendido anualmente, como promedio, 174 709 casos para detectar los errores innatos del metabolismo como la fenilcetonuria, la hiperplasia adrenal congénita, el déficit de biotinidasa y la galactosemia. Las estrategias de intervención en el campo de la genética en Santiago de Cuba han permitido identificar los riesgos prenatales y posnatales a nivel de la familia e individual, lo que ha redundado en la disminución de la mortalidad infantil y de discapacidades mentales y físicas…(AU)


Assuntos
Humanos , Masculino , Feminino , Anormalidades Congênitas/genética , Diagnóstico Pré-Natal , Análise Citogenética , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Erros Inatos do Metabolismo/genética , Ultrassonografia Pré-Natal , Doenças Genéticas Inatas/genética , Defeitos do Tubo Neural/genética
15.
J Biomed Mater Res A ; 87(1): 229-35, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18092353

RESUMO

Angioplasty with stent placement is commonly used to treat coronary atherosclerosis. However, 20-40% of stainless steel stents restenose within 6 months via a prolonged inflammatory response mediated by monocytic infiltration and cytokine secretion. In the current study, we tested a hypothesis that blood flow and monocytes interact to alter stent corrosion. We assessed the effects of THP1 monocytes on the corrosion rate of 316L stainless steel (316LSS) under shear stress (0.5-50 dyn/cm(2)). In addition, THP1 cytokine secretion was determined using cytokine arrays and ELISA analyses. Data were compared using ANOVA and Tukey post hoc analysis (alpha = 0.05). Monocytes significantly lowered 316LSS corrosion rates without limiting current density. However, shear stress alone did not alter the corrosion rate of 316LSS. THP1 cells adhered to the 316LSS surface at all flow rates. Exposure to the 316LSS/corrosion test under high fluid flow rates increased (>twofold) the secretion of 7 of the 42 cytokines tested (angeogenin, GRO, I309, interleukin 8, interleukin 6, interleukin 1beta, and macrophage chemoattractant protein-1). Each of these cytokines play a role in wound healing, macrophage differentiation, and cell proliferation, all hallmarks of in-stent restenosis. Furthermore, only IL8 levels were significantly higher than any of the system controls during the 316LSS/corrosion test conditions. The IL8 levels from the 316LSS/corrosion tests were not significantly different from the +LPS control. Together, these data suggest that monocytic cells maybe activated by exposure to 316LSS stents and could contribute to in-stent restenosis and altered corrosion of the stent.


Assuntos
Monócitos/citologia , Resistência ao Cisalhamento , Aço Inoxidável/química , Stents , Análise de Variância , Angioplastia Coronária com Balão , Materiais Biocompatíveis/química , Velocidade do Fluxo Sanguíneo , Linhagem Celular , Doença da Artéria Coronariana/fisiopatologia , Doença da Artéria Coronariana/terapia , Reestenose Coronária/imunologia , Corrosão , Citocinas/imunologia , Citocinas/metabolismo , Eletroquímica , Humanos , Interleucina-8/imunologia , Interleucina-8/metabolismo , Lipopolissacarídeos/imunologia , Teste de Materiais , Monócitos/imunologia , Monócitos/metabolismo , Estresse Mecânico
16.
Rev. cuba. enferm ; 15(3): 174-8, sept.-dic. 1999. tab
Artigo em Espanhol | LILACS, BDENF - Enfermagem | ID: lil-270430

RESUMO

La anemia depranocítica constituye una de las alteraciones hemolíticas hereditarias más comunes en Cuba, de tal modo que se considera un problema de Salud Pública. Se realizó un estudio transversal y descriptivo sobre hemoglobinopatías en las 1 439 embarazadas del municipio Santiago de Cuba durante el primer semestre de 1996, de donde se tomó una muestra de 297 mujeres cuyos resultados arrojaron algún tipo de alteración hemolítica, para una incidencia de la enfermedad de 20,6 porciento; elevada en comparación con otros trabajos. Los grupos etarios de mayor frecuencia se hallaban relacionados con los períodos más fértiles en la mujer: 20 a 24 y 25 a 29 años, aunque hubo también 69 adolescentes en la serie. Los distritos más numerosos fueron el 1 y el 3, por sus características poblacionales, y a ellos pertenecían los 265 esposos examinados, entre los cuales se detectaron 44 parejas con riesgo. De los diagnósticos prenatales, 3 resultaron ser de hemoglobinopatía SS, pero se logró interrumpir oportunamente las gestaciones por la labor de prevención y orientación que se efectúa en estos casos


Assuntos
Hemoglobinopatias/epidemiologia , Complicações Hematológicas na Gravidez/epidemiologia
17.
Rev. cuba. enferm ; 15(3): 174-8, sept.-dic. 1999. tab
Artigo em Espanhol | CUMED | ID: cum-17735

RESUMO

La anemia depranocítica constituye una de las alteraciones hemolíticas hereditarias más comunes en Cuba, de tal modo que se considera un problema de Salud Pública. Se realizó un estudio transversal y descriptivo sobre hemoglobinopatías en las 1 439 embarazadas del municipio Santiago de Cuba durante el primer semestre de 1996, de donde se tomó una muestra de 297 mujeres cuyos resultados arrojaron algún tipo de alteración hemolítica, para una incidencia de la enfermedad de 20,6 porciento; elevada en comparación con otros trabajos. Los grupos etarios de mayor frecuencia se hallaban relacionados con los períodos más fértiles en la mujer: 20 a 24 y 25 a 29 años, aunque hubo también 69 adolescentes en la serie. Los distritos más numerosos fueron el 1 y el 3, por sus características poblacionales, y a ellos pertenecían los 265 esposos examinados, entre los cuales se detectaron 44 parejas con riesgo. De los diagnósticos prenatales, 3 resultaron ser de hemoglobinopatía SS, pero se logró interrumpir oportunamente las gestaciones por la labor de prevención y orientación que se efectúa en estos casos (AU)


Assuntos
Hemoglobinopatias/epidemiologia , Complicações Hematológicas na Gravidez/epidemiologia
18.
Bol. cientif. Santiago Cuba ; 3(4): 67-72, oct.-dic. 1985. tab
Artigo em Espanhol | CUMED | ID: cum-13896

RESUMO

Se realiza estudio genético de haptoglobina en 1 023 sueros procedentes de la población de Santiago de Cuba, efectuándose la electroforesis en gel de poliacrilamida, con los siguientes resultados: Frecuencia de los tipos: Hp 1-1: 24, 8 por ciento, Hp 2-2: 23, 6 por ciento, Hp 2-1: 49, 8 por ciento; frecuencia de distribución alélica: Hp 1: 0, 515 y Hp 2: 0, 485. El 1, 8 por ciento de los sueros examinados no evidenciaron la existencia de haptoglobina con el método empleado, pero no podemos excluir que se trate de niveles bajos por procesos patológicos subyacentes. No encontramos casos dudosos atribuibles a artefactos(AU)


Assuntos
Haptoglobinas/análise
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