INTRODUCTION Acute liver failure is rare in pediatric patients and is one of the most challenging medical emergencies due to its prognostic and therapeutic implications. The best scientific evidence worldwide comes from multicenter studies in developed countries. In Cuba, there are no prior studies of this disorder in children.
OBJECTIVES Describe the main clinical features of Cuban children treated at a national referral center for acute liver failure, as defined by recognized diagnostic criteria for pediatric patients.
METHODS A case series study was conducted comprising patients diagnosed with acute liver failure treated from 2005 to 2011 in the hepatology and liver transplant service at Havana’s William Soler University Children’s Hospital. Variables were age group, etiology of acute liver failure, grade of hepatic encephalopathy, blood chemistry variables, and clinical outcome (whether or not spontaneous recovery of liver function occurred). Associations between variables were assessed using contingency tables, and case fatality was calculated, as well as relative risk with its 95% confidence interval. The Mann-Whitney U test was used to compare means of laboratory test results.
RESULTS Median age of the 31 patients studied (14 boys and 17 girls) was 24 months (range 1–180). Time between symptom onset and diagnosis of acute liver failure was 25.1 days (SD 16.8). Infection was the most common etiology, present in 61.3% of cases (19/31); nonhepatotropic viruses, especially cytomegalovirus, predominated in infants. Spontaneous recovery occurred in 15 patients (48.4%), 3 (9.7%) received transplants, and 13 died, for a case fatality of 41.9%. Outcome was not associated with etiology (p = 0.106), but was statistically associated with degree of hepatic encephalopathy (p <0.01): 77.8% of patients (7/9) with grades III–IV encephalopathy died, for a relative risk of 4.0 (95% CI 1.15–13.8), versus 11.1% (1/9) with grade II or less encephalopathy. Cholesterol levels were significantly lower in patients who failed to recover spontaneously (p <0.01).
CONCLUSIONS Patients’ clinical characteristics in this case series were similar to those described in developed countries.The fact that nonhepatotropic viruses (basically, cytomegalovirus in infants) are the main cause of acute liver failure in Cuban children calls for further epidemiologic study and identification of local underlying determinants of this phenomenon.
KEYWORDS Acute liver failure/etiology, transplants, infections, cytomegalovirus, children, pediatrics, Cuba
INTRODUCTION In recent years, global initiatives to address the AIDS epidemic have produced promising advances through access to effective treatment programs. However, lack of adherence to antiretroviral therapy is a problem for pediatric patients.
OBJECTIVE Explore antiretroviral therapy adherence in children and adolescents living with HIV/AIDS in Cuba and examine its relationship with psychosocial, individual and treatment factors.
METHODS A qualitative study was carried out of 21 caregivers of children and adolescents with HIV/AIDS. Demographics and information on treatment regimen were collected by chart review. In-depth interviews were conducted to assess adherence and examine its relationship with psychosocial, individual and treatment factors. Interviews were transcribed and the information was grouped by factor category. Adherence was analyzed in relation to these three sets of factors.
RESULTS Caregivers interviewed reported adequate adherence in 17 of the 21 children. Lack of adherence was linked primarily to psychosocial factors such as additional responsibility taken on by the caregiver while grappling with his or her own illness, the presence of untreated psychological symptoms in the caregiver, perceived difficulties with family support, the child’s age, and assigning treatment responsibilities to the child without taking into account his/her psychological maturity.
CONCLUSIONS The study revealed a high level of antiretroviral therapy adherence. It reconfirmed the fundamental importance of the caregiver and family support for therapeutic success in children and adolescents living with HIV/AIDS. These results, as well as the factors identified in cases of nonadherence, can contribute to a framework for assessment and specialized interventions to optimize pediatric antiretroviral adherence.
KEYWORDS HIV, AIDS, antiretroviral therapy, patient adherence, patient compliance, patient nonadherence, treatment adherence, treatment compliance, treatment nonadherence, Cuba
INTRODUCCIÓN Con el envejecimiento poblacional se incrementa el número de personas con enfermedades crónicas, discapacidad, fragilidad y dependencia. Es importante el estudio de la fragilidad —un síndrome clínico que se asocia al incremento del riesgo de caídas, discapacidad, hospitalización, institucionalización y muerte— para mejorar la práctica clínica y los indicadores de salud de la población.
OBJETIVOS Estimar la prevalencia de la fragilidad y sus factores de riesgo, determinar la incidencia de la dependencia, estimar el riesgo de mortalidad e identificar los factores predictores de la muerte en una cohorte de adultos mayores en las provincias de La Habana y Matanzas, en Cuba.
MÉTODOS Se realizó un estudio longitudinal prospectivo de puerta en puerta entre junio de 2003 y julio de 2011, para lo cual se empleó una cohorte de 2 813 adultos de 65 o más años provenientes de los municipios seleccionados de las provincias de La Habana y Matanzas; el seguimiento promedio fue de 4.1 años. Las variables independientes incluyeron aspectos demográficos, factores conductuales de riesgo e indicadores socioeconómicos, enfermedades crónicas no transmisibles (hipertensión, ictus, demencia, depresión, diabetes, anemia), el número de comorbilidades, y el genotipo APOE ε4. Las variables dependientes fueron: fragilidad, dependencia y mortalidad. Los criterios de fragilidad fueron: lenta velocidad de desplazamiento, agotamiento, pérdida de peso, poca actividad física y declinación cognitiva. Se estimaron la prevalencia y el riesgo de fragilidad mediante la regresión de Poisson, a la vez que la dependencia y los riesgos de mortalidad y sus pronosticadores se determinaron mediante la regresión de Cox.
RESULTADOS El síndrome de fragilidad tuvo una prevalencia de 21.6% (IC 17.9%–23.8%) en la población estudiada, y se asoció positivamente con la edad avanzada, la anemia y la presencia de comorbilidades (ictus, demencia, depresión, y tres o más enfermedades físicas limitantes). La prevalencia de fragilidad estuvo inversamente asociada con: la pertenencia al sexo masculino, tener mayor nivel educacional, estar casado o tener pareja y contar con mayor número de bienes y servicios en el hogar.
La incidencia de dependencia durante el seguimiento fue de 33.1 por 1 000 personas por año (IC 29.1–37.6) y la mortalidad fue de 55.1 por 1 000 personas por año. El mayor riesgo de muerte se asoció con: la edad avanzada, pertenecer al sexo masculino, tener menor posición ocupacional durante los años productivos, la dependencia, la fragilidad, la demencia, la depresión, el ictus y la diabetes.
CONCLUSIONES Debido al desafío que representan las transiciones demográfica y epidemiológica para los países en desarrollo, expresado en la alta prevalencia de la fragilidad, la dependencia y las enfermedades crónicas no transmisibles en los adultos mayores, así como por la asociación de todo lo anterior con una mayor mortalidad, es necesario que la atención se centre en los adultos mayores como grupo de riesgo. Esto debe abarcar una mayor protección social, servicios de salud adecuados según la edad y la modificación y el control de factores de riesgo cardiovasculares.
PALABRAS CLAVE Fragilidad del anciano, fragilidad de los adultos mayores, edad avanzada, ancianos, dependencia, mortalidad, enfermedades crónicas, demencia, enfermedad de Alzheimer, factores de riesgo, mama, sistema reproductor femenino, fertilidad, Cuba
INTRODUCCIÓN La anemia constituye el principal problema nutricional en los niños preescolares cubanos. Tal situación estimuló la realización de intervenciones de salud por parte de las autoridades sanitarias cubanas con el propósito de prevenir y controlar la enfermedad. En 2008 se estableció una estrategia nacional integral que proporcionó atención particular a las provincias orientales del país, por constituir la región con los más grandes desafíos en los determinantes sociales de salud.
OBJETIVO Determinar la prevalencia de anemia en los niños de 6 a 59 meses en las cinco provincias orientales de Cuba en tres años diferentes dentro de una década, así como estudiar la asociación de la anemia con los factores epidemiológicos y nutricionales, para evaluar el impacto del Plan Integral Cubano para la Prevención y el Control de la Anemia por Deficiencia de Hierro en Cuba.
MÉTODOS Se realizaron estudios de corte transversal en muestras representativas de la población de los niños con 6 a 59 meses, residentes en las provincias orientales del país, en los años 2005, 2008 y 2011. Se midió el nivel de hemoglobina para diagnosticar la anemia (hemoglobina menor de 110 g/L) y los resultados se relacionaron con variables independientes tales como la edad, el sexo, el área de residencia (urbana o rural), la asistencia a círculos infantiles [guarderías para niños entre 1 y 5 años de edad, pertenecientes al Sistema Nacional de Educación de Cuba —Eds.], el peso al nacer, la historia de lactancia materna, así como la anemia materna durante el embarazo. Se calcularon las frecuencias de distribución, las comparaciones se evaluaron mediante la prueba de χ2 y los Odds Ratio (OR) con intervalos de confianza (IC) del 95%.
RESULTADOS La prevalencia de anemia en la región estudiada disminuyó de 31.8% en 2005 a 26% en 2011; en la mayoría de los casos era leve (hemoglobina = 100-109 g/L). La prevalencia fue superior en los niños de 6 a 23 meses comparado con los que tenían de 24 a 59 meses. No se encontró diferencia significativa en la prevalencia de anemia entre niños y niñas. La prevalencia fue superior en las áreas rurales comparadas con las áreas urbanas en 2005 (p = 0.026) y en 2011
(p = 0.012). La asistencia a círculos infantiles constituyó un factor protector en los tres años estudiados. El bajo peso al nacer solo estuvo asociado con la anemia en 2011 (OR 1.74, IC 1.04-2.92). La prevalencia de la lactancia materna de forma exclusiva durante los seis primeros meses de vida se incrementó durante el período de estudio y la anemia se asoció con la no utilización de lactancia materna exclusiva en 2005 (OR 1.57, IC 1.05-2.34). La anemia materna al inicio y durante el embarazo fue un factor de riesgo significativo tanto en 2005 (OR 1.98, IC 1.27-3.10) como en 2011 (OR 1.43, IC 1.05-1.94).
CONCLUSIONES Aunque la prevalencia de anemia disminuyó paulatinamente durante el período del estudio, la enfermedad continúa siendo un problema de salud pública en Cuba, por lo que se deben mantener y fortalecer las medidas para su prevención y su control, tales como realizar intervenciones de salud sobre las mujeres en edad reproductiva, la alimentación exclusiva por lactancia materna durante los primeros seis meses de edad, estimular el cumplimiento de las recomendaciones de las normas cubanas para la alimentación complementaria de los niños hasta los dos años de edad, así como continuar la evaluación y la investigación de las causas de la anemia en los niños en edad preescolar.
PALABRAS CLAVE Anemia, niños, preescolar, infantes, lactancia materna, círculos infantiles, guarderías, Cuba
El notable incremento de las tasas de supervivencia de los niños cubanos ha conducido a nuevos desafíos en la búsqueda continua de mejorar su bienestar y calidad de vida. Solamente se pueden alcanzar estos avances en la medida en que también se mejoren la atención preventiva y la promoción de salud. Este artículo describe el diseño de una estrategia para la atención integral de niños y adolescentes que tiene como base mejorar la calidad de las consultas, definir sus componentes, las actividades específicas según la edad y brindar las pautas para el seguimiento en función de los hallazgos de las consultas. Como complemento a la estrategia, se identifican los indicadores y estándares para la evaluación sistemática de la calidad de la consulta, lo que permite recoger información objetiva y específica de cada consulta individual y la evaluación de las tendencias en el tiempo. Esto, a su vez, permitirá mejorar aún más esta estrategia a largo plazo.
PALABRAS CLAVE Servicios de salud infantil, servicios preventivos de salud, atención primaria de salud, mortalidad infantil, supervivencia, niños, adolescentes, Cuba
A review was conducted of screening strategies for detecting the main cancer sites for which screening has been recommended, assessing WHO and other international organizations’ positions, as well as the requirements of Cuba’s cancer control strategy. Universally, screening is recommended for cervical, breast and colorectal cancer, all included in the Cuban strategy. Additionally, in Cuba, PSA testing is indicated for men considered at risk (aged >45 years with family history) and those aged >50 years who request it; annual oral exams and teaching of oral self-examination are recommended for the entire population; and for adults aged >35 years, active annual oral cancer case finding. Screening for skin cancer is performed by physical examination of individuals at risk. To maximize benefits of early cancer detection, greater coverage is needed as well as studies of how well screening is performing under current Cuban conditions.
KEYWORDS Cancer, early detection, screening, secondary prevention, breast cancer, cervical cancer, colorectal cancer, skin cancer, oral cancer, Cuba
Recent advances in fundamental immunology are changing paradigms for management of advanced cancer, now acknowledged as a chronic disease whose prevalence will increase, and one whose complexity makes it difficult to control. Immunotherapy is emerging as an alternative, with new monoclonal antibodies, therapeutic vaccines and deeper understanding of fundamental phenomena in the interaction between tumor and immune system. These novel insights concern mechanisms of programmed contraction of the immune response, characterization of molecular and cellular markers of immunosenescence, the dual role of inflammation, characterization of myeloid-derived suppressor cells and cancer stem cells, and the phenomena of immunogenic apoptosis and oncogene addiction.
Additionally, new data drive a deeper understanding of four barriers to overcome in control of advanced cancer: the complexity of biological systems, tumor heterogeneity, tumor mutation rates, and human genome–environment mismatch. The new landscape points to six main strategies: manage advanced cancer as a chronic disease, find relevant molecular markers for patient stratification, develop a rationale for therapeutic combinations, target regulatory control loops in the immune system, expand mathematical modeling capacity, and evaluate complex health intervention packages in real-world conditions.
These transitions in cancer immunotherapy research are illustrated in this paper through description of ongoing projects at Cuba’s Molecular Immunology Center.
KEYWORDS: Immunotherapy, cancer control, molecular immunology, monoclonal antibodies, Cuba
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.
KEYWORDS Antenatal diagnosis, prenatal diagnosis, antenatal screening, genetic services, medical genetics, fetal ultrasound, quality control, health care networks, information systems, Cuba
INTRODUCTION The availability of monoclonal antibodies in Cuba has facilitated development and application of innovative techniques (immunoscintigraphy and radioimmunotherapy) for cancer diagnosis and treatment.
Objective Review immunoscintigraphy and radioimmunotherapy techniques and analyze their use in Cuba, based on the published literature. In this context, we describe the experience of Havana’s Clinical Research Center with labeled monoclonal antibodies for cancer diagnosis and treatment during the period 1993–2013.
EVIDENCE ACQUISITION Basic concepts concerning cancer and monoclonal antibodies were reviewed, as well as relevant international and Cuban data. Forty-nine documents were reviewed, among them 2 textbooks, 34 articles by Cuban authors and 13 by international authors. All works published by the Clinical Research Center from 1993 through 2013 were included. Bibliography was obtained from the library of the Clinical Research Center and Infomed, Cuba’s national health telematics network, using the following keywords: monoclonal antibodies, immunoscintigraphy and radioimmunotherapy.
RESULTS Labeling the antibodies (ior t3, ior t1, ior cea 1, ior egf/r3, ior c5, h-R3, 14F7 and rituximab) with radioactive isotopes was a basic line of research in Cuba and has fostered their use as diagnostic and therapeutic tools. The studies conducted demonstrated the good sensitivity and diagnostic precision of immunoscintigraphy for detecting various types of tumors (head and neck, ovarian, colon, breast, lymphoma, brain).
Obtaining different radioimmune conjugates with radioactive isotopes such as 99mTc and 188Re made it possible to administer radioimmunotherapy to patients with several types of cancer (brain, lymphoma, breast). The objective of 60% of the clinical trials was to determine pharmacokinetics, internal dosimetry and adverse effects of monoclonal antibodies, as well as tumor response; there were few adverse effects, no damage to vital organs, and a positive tumor response in a substantial percentage of patients.
CONCLUSIONS Cuba has experience with production and radiolabeling of monoclonal antibodies, which facilitates use of these agents. Studies in Cuba conducted by the Clinical Research Center over the past 20 years have yielded satisfactory results. Evidence obtained suggests promising potential of monoclonal antibodies and nuclear medicine, with immunoscintigraphy and radioimmunotherapy techniques providing alternatives for cancer diagnosis and treatment in Cuba.
KEYWORDS Immunoscintigraphy, radioimmunotherapy, radioimmune conjugate, labeling, monoclonal antibody, immunochromatography, radioimmunodetection, radiolabeled immunoscintigraphy, Cuba
INTRODUCTION EKG remains a highly valuable tool for heart disease management. Corrected QT interval dispersion is a useful EKG parameter to assess prognosis in ischemic heart disease and specifically acute coronary syndrome. Understanding QT interval physiopathology helps assess importance of QT measurement in this context. Although increased QT dispersion is an ominous prognostic marker, its utility has not been evaluated for all types of acute coronary syndrome, even though in many circumstances it is the only tool available for diagnosing patients with equivocal EKG signs and/or atypical symptoms.
OBJECTIVE Describe corrected QT interval dispersion in acute coronary syndrome in three groups of patients—with ST elevation, without ST elevation, and without ST elevation with equivocal EKG signs—admitted to the intensive care unit of Celestino Hernández Robau University Hospital in Santa Clara, Cuba, from January 2010 through June 2011.
METHODS A descriptive retrospective study was conducted in 194 patients admitted with diagnosis of acute coronary syndrome. QT interval was measured and its dispersion calculated for the first EKG after symptom onset. Patterns were assessed for typical and atypical clinical presentations, and unequivocal and equivocal EKG signs.
RESULTS Nonclassifiable acute coronary syndrome was found in 6.7% of patients (13/194), the majority of whom had increased QT dispersion (76.9%, 10/13). There were significant differences in QT dispersion patterns between patients with typical and atypical presentations and between patients with equivocal and unequivocal EKG findings. In non-ST elevation acute coronary syndrome and nonclassifiable acute coronary syndrome with increased dispersion, atypical presentation was the most common (65.5%, 19/29; and 90%, 9/10, respectively).
CONCLUSION Corrected QT interval dispersion is a useful diagnostic tool for acute coronary syndrome, especially when patients present with atypical symptoms and equivocal EKG findings. Thus, it is a low-cost alternative in management of acute coronary syndrome in resource-poor settings.
KEYWORDS Risk factors, ischemic heart disease, acute coronary syndrome, myocardial ischemia, electrocardiography, QT interval dispersion, prognosis, Cuba
INTRODUCTION Although modern technology has extended the survival of breast cancer patients, treatment’s adverse effects impact their health-related quality of life. Currently, no instrument exists capable of identifying the range of problems affecting breast cancer patients receiving radiotherapy in Cuba’s socioeconomic and cultural context.
OBJECTIVES Construct and validate an instrument to measure the effects of breast cancer and radiotherapy on health-related quality of life in Cuban patients.
METHODS The study was conducted at the Oncology and Radiobiology Institute, Havana, Cuba, from January 2010 through December 2011. Inclusion criteria were: adult female, histological diagnosis of breast cancer, treated with ambulatory radiotherapy, and written informed consent; patients unable to communicate orally or in writing, or who had neurologic or psychiatric conditions were excluded. Development phase: focus groups guided by a list of questions were carried out with 50 women. The patients reported 61 problems affecting their health-related quality-of-life. A nominal group (six oncologists and two nurses) identified the same problems. A syntactic analysis of the information was performed to create items for study and measurement scales. Content validity was determined by a nominal group of seven experts using professional judgment. Another 20 patients were selected to evaluate face validity. Validation phase: the instrument was applied to 230 patients at three different points: before radiotherapy, at the end of radiotherapy and four weeks after radiotherapy was concluded. Reliability, construct validity, discriminant validity, predictive validity, interpretability and response burden were evaluated.
RESULTS The final instrument developed had 33 items distributed in 4 domains: physical functioning, psychological functioning, social and family relationships, and physical and emotional adverse effects of disease and treatment. There were two discrete items: perceived general health and perceived health-related quality of life. Content validity and face validity were assessed as acceptable, by experts and patients respectively. Homogeneity, construct validity, and discriminant validity were satisfactory. The best results were obtained with test–retest reliability, predictive validity, and interpretability; the low rate of unanswered questions indicated that the instrument did not produce excessive patient response burden.
CONCLUSION The new instrument fulfilled the requirements for measuring impact of breast cancer and of radiotherapy on health-related quality of life in these Cuban patients, validating its usefulness for inclusion in clinical trial protocols.
KEYWORDS Psychometrics, quality of life, breast cancer, radiotherapy, Cuba
INTRODUCTION Antenatal cytogenetic testing was started in Havana in 1984, as a diagnostic option for fetal chromosome complement. The techniques applied are amniocyte culture, chorionic villus sampling, cordocentesis and fluorescence in situ hybridization in interphase cells.
OBJECTIVE Describe the results of antenatal cytogenetic testing in the cytogenetic laboratory of the Cuba’s National Medical Genetics Center in Havana, from 1984 through 2012.
METHODS A retrospective descriptive study was carried out of the 22,928 pregnant women who had antenatal testing with conclusive results during the period 1984–2012. Information was obtained from laboratory databases for four antenatal diagnostic techniques. Variables studied were: antenatal diagnostic method, indications for genetic testing, type of chromosomal abnormality detected and couple’s decision concerning pregnancy continuation if hereditary disease was diagnosed. Results were reported in absolute numbers and percentages.
RESULTS Overall positivity was 2.8% (641 cases). Of the total, 20,565 samples were from amniocyte culture (558 positive cases, 2.7%); 1785 chorionic villus sampling (38 positive, 2.1%); 407 cord blood culture (28 positive, 6.9%); and 171 fluorescence in situ hybridization in interphase cells (17 positive, 9.9%). Advanced maternal age was the predominant indication for amniocyte culture and chorionic villus sampling. Positivity was higher for the two less frequently used methods, cordocentesis (6.9% positivity) and fluorescence in situ hybridization (9.9%). The predominant chromosomal abnormality was Down syndrome, with 45.4% of cases detected (291/641; 279 pure lines and 12 mosaic trisomies), followed by Edward syndrome with 12% (77/641, 71 pure lines and 6 mosaics) and Patau syndrome 4.7% (30/641, 27 pure lines and 3 mosaics). Sexual aneuploidy with pure lines affected 6.9% of cases (44/641) and with mosaicism 4.7% (30/641). Structural chromosomal abnormalities were detected in 22.5% of cases (144/641); of these, 70.8% (102/144) were balanced and 29.2% (42/144) unbalanced. In 78.6% of cases (504/641) with chromosomal abnormalities, whether mosaic or pure, the couple opted to terminate pregnancy.
CONCLUSIONS Antenatal cytogenetic testing has helped reduce chromosomal abnormalities, mainly in Havana, and has provided reassurance of chromosomally normal children for couples at high genetic risk. The percentage of continuing pregnancies after a diagnosis of major chromosomal abnormality has been low, supporting evidence of broad population acceptance of abortion as an option when severe genetic abnormalities are present.
KEYWORDS Antenatal diagnosis, prenatal diagnosis, antenatal screening, Down syndrome, aneuploidy, chromosomal mosaicism, genetic diseases, genetic services, cytogenetics, hereditary disease, medical genetics, Cuba
INTRODUCTION Neurofibromatosis 1 is one of the most common heritable genetic disorders in humans. It is characterized by formation of neurofibromas, with marked variability in expression. Half the cases are due to autosomal dominant inheritance; the rest arise from de novo mutations. Prevalence varies by population, and prevalence in Cuba is unknown.
OBJECTIVE Determine the prevalence of neurofibromatosis 1 in a population of Cuban children aged 9–11 years old in Pinar del Río Province, Cuba.
METHODS A descriptive cross-sectional study was carried out in Pinar del Río Province in 2004, in which 19,392 children were assessed for neurofibromatosis 1. The study was conducted in two phases: the first, a survey of the entire population aged 9–11 years by genetic counselors in the province’s schools; the second, assessment by clinical geneticists of children who met criteria for referral to the Provincial Medical Genetics Center. Neurofibromatosis 1 cases and first-degree relatives were examined to identify the origin of the mutation (de novo or inherited). Neurofibromatosis 1 prevalence was calculated, as well as history of a first-degree relative with the disease and frequency of several principal clinical signs—café au lait spots, freckles in places unexposed to sunlight, presence of neurofibromas, Lisch nodules and characteristic bone lesions.
RESULTS Of the eligible population, 99.3% was screened (10,034 boys and 9358 girls). Active case finding resulted in referral of 200 children to medical geneticists and the disease was confirmed in 17, for a prevalence of one case per 1141 children aged 9–11 years old. Café au lait spots were the most frequent sign (100%), followed by freckles in areas unexposed to sunlight (82.4%) and characteristic bone lesions (41.2%). Only 4 of the 17 cases were previously being treated for the disease.
CONCLUSIONS Neurofibromatosis 1 has high prevalence in the group studied in Pinar del Rio Province and most cases are not detected in primary health care settings.
KEYWORDS Neurofibromatosis 1, von Recklinghausen disease, prevalence, café au lait spots, Lisch nodules, genetic diseases, hereditary disease, medical genetics, genetic epidemiology, Cuba
INTRODUCTION Cystic fibrosis is a multisystem autosomal recessive disease with wide variability in clinical severity. It is incurable and characterized by elevated and premature mortality, as well as poor quality of life. Its frequency, lethality and devastating impact on both the physical and psychological wellbeing of patients and their families, make it a serious health problem. Its frequency in Cuba is 1 in 9862 live births, where marked molecular heterogeneity of the CFTR gene makes molecular diagnosis difficult. Six mutations have been identified that together enable molecular characterization of only 55.5% of cystic fibrosis chromosomes. This paper presents national results of antenatal diagnostic testing, using direct and indirect methods, for detection of cystic fibrosis.
OBJECTIVE Characterize the Cuban public health system’s experience with antenatal molecular testing for cystic fibrosis from 1988 through 2011.
METHODS A retrospective descriptive study was conducted with results of antenatal diagnostic testing of amniotic fluid, performed nationwide from 1988 through 2011, for 108 fetuses of couples with some risk of having children affected by cystic fibrosis, who requested testing. Polymerase chain reaction detected mutations p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G>A, and markers XV2C and KM19. Data were analyzed using absolute frequencies and percentages, and presented in tables.
RESULTS For 93 cases (86.1%), testing for cystic fibrosis was done using direct analysis of mutations p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X and c.3120+1G>A; five cases (4.6%) were tested indirectly using markers XV2C/Taq I and KM19/Pst I; and 10 (9.3%) were tested using a combination of the two methods. A total of 72 diagnoses (66.7% of studies done) were concluded, of which there were 20 healthy fetuses, 16 affected, 27 carrier, and 9 who were either healthy or carriers of an unknown mutation.
CONCLUSIONS Direct or indirect molecular study was successfully used in over half of antenatal tests requested by couples throughout Cuba at risk of having children affected by cystic fibrosis, which is of great social value because of CF’s burden on affected persons and their families.
KEYWORDS Cystic fibrosis, CFTR protein, molecular markers, antenatal diagnosis, antenatal screening, Cuba
INTRODUCTION Over the last 40 years, high smoking prevalence has been reported throughout Cuba, including in Cienfuegos city in the central part of the island.
OBJECTIVES Determine smoking prevalence and potential associated risk factors in Cienfuegos city for 2010–2011.
METHODS A descriptive cross-sectional study was conducted in Cienfuegos city in the context of CARMEN (Collaborative Action for Risk Factor Prevention & Effective Management of Non-communicable Diseases), a PAHO multi-country initiative for a multidimensional approach to chronic non-communicable diseases. Participants totaled 2193 (aged 15–74 years), randomly selected through complex probabilistic three-stage sampling. Variables examined in relation to smoking included age, sex, skin color, civil status and educational level.
RESULTS Approximately 25% of those surveyed were smokers (30.3% of men and 21.0% of women). For men, prevalence was highest in the groups aged 25–34 and 55–64 years; for women, in the group aged 45–54 years. Concerning skin color, smoking rates were higher among black and mestizo persons (29.5%); and concerning civil status, higher among those who were separated, widowed or divorced (30.0%). Smoking prevalence fell with higher educational level; in keeping with that trend, the university-educated group had the lowest prevalence (16.2%).
CONCLUSIONS Although one in four Cienfuegos residents aged ≥15 years smoked in 2010–2011, prevalence there is lower than in previous surveys. Knowledge of differences observed in age, sex, skin color, civil status and educational level can be useful for planning future smoking prevention and control actions.
KEYWORDS Tobacco, smoking, prevalence, health surveys, risk factor surveillance, Cuba
INTRODUCTION Disability-adjusted life years is a composite measure that integrates the components of mortality and morbidity. It is a useful indicator of overall disease burden and is particularly useful for evaluating health intervention outcomes. In the cases of breast and reproductive system cancers, these can also negatively affect childbearing opportunities for young women.
OBJECTIVE Determine disability-adjusted life years for breast and reproductive system cancers in Cuban women aged 15–44 years during the period 1990–2006.
METHODS A national epidemiological study was conducted using Cuba’s disease and vital statistics registry data for 1990, 1995, 2000 and 2006. Disability-adjusted life years in women aged 15–44 years were calculated for breast cancer and three female reproductive system cancers (cervical, endometrial and ovarian), by summing years of life lost due to premature mortality and years lived with disability. Years of life lost due to premature mortality were determined based on age-specific estimates of life expectancy. Years lived with disability were calculated as the product of severities (provided by the 1990 Global Burden of Disease study) and incidence and average duration, both obtained via the DISMOD II program. Data entered in the program include national statistics on incidence, prevalence, and mortality.
RESULTS Breast cancer and cervical cancer proved to have the highest rates of potential years of life lost due to premature mortality, with the sharpest increases in the period (from 139 to 206.5 and 114.7 to 215.2 per 100,000, respectively). Endometrial and ovarian neoplasms crept up more slowly. An increase in years lived with disability was seen in three of these four types of cancer; only cervical cancer saw a decline (from 12.7 to 9 per 100,000). Breast cancer and cervical cancer presented the highest levels of disability-adjusted life years for all four years studied, rising from 146.9 to 227.8 and 127.4 to 224.2 per 100,000, respectively between 1990 and 2006.
CONCLUSIONS An unfavorable trend in disability-adjusted life years was seen for breast and cervical cancer between 1990 and 2006 in Cuban women of childbearing age.
KEYWORDS Disability-adjusted life years, years of life lost due to premature mortality, years lived with disability, cancer, breast, female reproductive system, fertility, Cuba
