The Economic Burden of Heart Conditions in Brazil / Os Custos das Doenças Cardíacas no Brasil

Abstract Background: Heart conditions impose physical, social, financial and health-related quality of life limitations on individuals in Brazil. Objectives: This study assessed the economic burden of four main heart conditions in Brazil: hypertension, heart failure, myocardial infarction, and atrial fibrillation. In addition, the cost-effectiveness of telemedicine and structured telephone support for the management of heart failure was assessed. Methods: A standard cost of illness framework was used to assess the costs associated with the four conditions in 2015. The analysis assessed the prevalence of the four conditions and, in the case of myocardial infarction, also its incidence. It further assessed the conditions' associated expenditures on healthcare treatment, productivity losses from reduced employment, costs of providing formal and informal care, and lost wellbeing. The analysis was informed by a targeted literature review, data scan and modelling. All inputs and methods were validated by consulting 15 clinicians and other stakeholders in Brazil. The cost-effectiveness analysis was based on a meta-analysis and economic evaluation of post-discharge programs in patients with heart failure, assessed from the perspective of the Brazilian Unified Healthcare System (Sistema Unico de Saude). Results: Myocardial infarction imposes the greatest financial cost (22.4 billion reais/6.9 billion USD), followed by heart failure (22.1 billion reais/6.8 billion USD), hypertension (8 billion reais/2.5 billion USD) and, finally, atrial fibrillation (3.9 billion reais/1.2 billion USD). Telemedicine and structured telephone support are cost-effective interventions for achieving improvements in the management of heart failure. Conclusions: Heart conditions impose substantial loss of wellbeing and financial costs in Brazil and should be a public health priority.

Resumo Fundamento: As doenças cardíacas impõem limitações à qualidade de vida nos aspectos físicos, sociais, financeiros e de saúde no Brasil. Objetivos: Este estudo avaliou o custo de quatro importantes doenças cardíacas no Brasil: hipertensão, insuficiência cardíaca, infarto do miocárdio e fibrilação atrial. Além disso, avaliou a relação de custo-efetividade de telemedicina e suporte telefônico estruturado para o manejo de insuficiência cardíaca. Métodos: Um custo padrão da estrutura de enfermidade foi usado para avaliar os custos associados às quatro condições em 2015. Analisou-se a prevalência das quatro doenças e, em caso de infarto do miocárdio, também sua incidência. Avaliaram-se ainda as despesas associadas ao tratamento, a perda de produtividade a partir da redução do emprego, os custos do fornecimento de assistência formal e informal e o bem-estar perdido referentes às condições. A análise teve por base uma revisão de literatura-alvo, varredura de dados e modelagem. Todos os inputs e métodos foram validados por 15 clínicos consultores e outras partes interessadas no Brasil. A análise de custo-efetividade baseou-se em uma meta-análise e uma avaliação econômica de programas após a alta de pacientes com insuficiência cardíaca, considerados a partir da perspectiva do Sistema Único de Saúde do Brasil. Resultados: Infarto do miocárdio acarretou o mais alto custo financeiro (R$ 22,4 bilhões/6,9 bilhões de dólares), seguido de insuficiência cardíaca (R$ 22,1 bilhões/6,8 bilhões de dólares), hipertensão (R$ 8 bilhões/2,5 bilhões de dólares) e, finalmente, fibrilação atrial (R$ 3,9 bilhões/1,2 bilhão de dólares). Telemedicina e suporte telefônico estruturado são intervenções custo-efetivas para o aprimoramento do manejo da insuficiência cardíaca. Conclusões: As doenças cardíacas determinam substanciais custos financeiros e perda de bem-estar no Brasil e deveriam ser uma prioridade de saúde pública.

La carga económica de las condiciones cardíacas en venezuela / The economic burden of heart conditions in venezuela

En Venezuela, las condiciones cardíacas imponen limitaciones físicas, sociales, financieras y de salud relacionadas con la calidad de vida de los individuos. Objetivos: Este estudio valoró la carga económica de cuatro condiciones cardíacas en Venezuela: hipertensión, insuficiencia cardíaca, infarto de miocardio y fibrilación auricular. Adicionalmente se evaluó el costo-efectividad de la telemedicina y el soporte telefónico estructurado para el manejo de la insuficiencia cardíaca.Métodos: Se utilizó un marco de costo de enfermedad estándar para valorar los costos asociados con las cuatro condiciones en 2015. El análisis evaluó la prevalencia e (en caso de infarto de miocardio) incidencia de las condiciones, los gastos asociados con el tratamiento médico, las pérdidas de productividad por reducción en el empleo, los costos de proveer cuidado formal e informal y la pérdida de bienestar. El análisis estuvo basado en información recolectada mediante una revisión de literatura y estadísticas, y modulación de datos. Todas las entradas de datos y métodos fueron validados mediante la consulta de quince clínicos y expertos en Venezuela. El análisis de costo-efectividad fue basado en un meta-análisis y en una evaluación económica de programas para pacientes con insuficiencia cardíaca dados de alta, valorado desde la perspectiva del Programa Nacional de Salud. Resultados: El infarto de miocardioimpone el mayor costo financiero (3,5 millones de bolívares/553 millones de USD), seguido por hipertensión arterial (3,4 millones de bolívares/539 millones de USD), la insuficiencia cardíaca (3,3 millones debolívares/522 millones de USD) y, finalmente, fibrilación auricular (0,4 miles de millones de bolívares/66 millones de USD). La telemedicina y el soporte telefónico estructurado son intervenciones costo-efectivas para alcanzar mejoras en el manejo de la insuficiencia cardíaca. Conclusiones: Las condiciones cardíacas imponen una pérdida sustancial de bienestar y de costos financieros en Venezuela y deberían ser una prioridad de salud pública

Heart conditions impose physical, social, financial and health related quality of life limitations on individuals in Venezuela. Objectives: This study assessed the economic burden of four main heart conditions in Venezuela: hypertension, heart failure, myocardial infarction, and atrial fibrillation. In addition, the cost-effectiveness of telemedicine and structured telephone support for the management of heart failure was assessed. Methods: A standard cost of illness framework was used to assess the costs associated with the four conditions in 2015. The analysis was informed by a targeted literature review, data scan and modeling. All inputs and methods were validated by consulting fifteen clinicians and other stakeholders in Venezuela. The cost-effectiveness analysis was based on a meta-analysis and economic evaluation of post-discharge programs in patients with heart failure, assessed from the perspective of the National Health Fund. Results: Myocardial infarction imposes the greatest financial cost (3.5 million bolivares/553 million USD), followed by hypertension (3.4 million bolivares/539 million USD), heart failure (3.3 million bolivares/522 million USD) and, finally, atrial fibrillation (0.4 billion bolivares/66 million USD).Telemedicine and structured telephone support are cost effective interventions for achieving improvements in the management of heart failure. The analysis assessed the prevalence and (in the case of myocardial infarction) incidence of the conditions, the associated expenditures on health care treatment, productivity losses from reduced employment, costs of providing formal and informal care, and lost wellbeing. Conclusions: Heart conditions impose substantial loss of wellbeing and financial costs in Venezuela and should be a public health priority(AU)

The Diagnosis of Choriocarcinoma in Molar Pregnancies: A Revised Approach in Clinical Testing.

BACKGROUND: Hydatidiform moles occur in approximately 1 in 1,500 pregnancies; however, early miscarriages or spontaneous abortions may not be correctly identified as molar pregnancies due to poor differentiation of chorionic villi. METHODS: The current clinical testing algorithm used for the detection of hydatidiform moles uses a combination of morphological analysis and p57 immunostaining followed by ploidy testing to establish a diagnosis of either a complete or partial molar pregnancy. We review here 198 referrals for fluorescence in situ hybridization (FISH) ploidy testing, where the initial diagnosis based on morphology is compared to the final diagnosis based on a combination of morphology, FISH and p57 immunohistochemical (IHC) staining. RESULTS: Approximately 40% of cases were determined to be genetically abnormal, but only 28.8% of cases were diagnosed as molar pregnancies. The underestimation of complete molar pregnancies and those with androgenetic inheritance was also found to be likely using conventional diagnostic methods, as atypical p57 staining was observed in approximately 10% of cases. CONCLUSIONS: Our findings suggest that a revised approach to testing products of conception is necessary, with cases screened according to their clinical history in order to distinguish molar pregnancy referrals from hydropic pregnancies.

A turner syndrome patient carrying a mosaic distal x chromosome marker.

A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild "classic" Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

The increased use of array-CGH and SNP-arrays for genetic diagnosis has led to the identification of new microdeletion/microduplication syndromes and enabled genotype-phenotype correlations to be made. In this study, nine patients with 9q21 deletions were investigated and compared with four previously Decipher reported patients. Genotype-phenotype comparisons of 13 patients revealed several common major characteristics including significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip. The molecular investigation identified deletions with different breakpoints and of variable lengths, but the 750 kb smallest overlapping deleted region includes four genes. Among these genes, RORB is a strong candidate for a neurological phenotype. To our knowledge, this is the first published report of 9q21 microdeletions and our observations strongly suggest that these deletions are responsible for a new genetic syndrome characterised by mental retardation with speech delay, epilepsy, autistic behaviour and moderate facial dysmorphy.

Colon replacement of vagina to restore menstrual function in 11 adolescent girls with vaginal or cervicovaginal agenesis.

AIM: Cervicovaginal or vaginal agenesis with functioning endometrial tissue is rare. We report the construction of a colon conduit which is anastomosed to posterior uterine wall or upper vaginal pouch to allow menstruation. MATERIALS AND METHODS: We report seven girls with cervicovaginal agenesis and four with lower vaginal agenesis (aged 12-20 years) who presented with painful cryptomenorrheoa. All the girls wanted to conserve their uterus and menstruate normally. A colon conduit was constructed for the egress of menstrual blood. The colon conduit was anastomosed to the posterior uterine wall in the seven girls with cervicovaginal agenesis and to the distended upper vaginal pouch in the four girls with vaginal agenesis. Utero-colonic neovaginal anastomosis was performed only after excising a circular portion of the posterior myometrium to prevent stenosis. RESULTS: The colon conduit functioned effectively, providing an egress for regular painless menstruation. One patient had stenosis of the perineal neovaginal orifice for which dilations were done. One girl has married and reports satisfactory intercourse. The mean follow up is 2.2 years. CONCLUSIONS: This group of patients forms a separate subgroup needing a conduit not only for sexual function but also for menstruation. However, if treated by the method described herein, they should be cautioned against pregnancy if they have cervicovaginal agenesis and against vaginal delivery if they have vaginal agenesis.

Bartholin abscess masquerading as an unusual vaginal prolapse: a case report.

BACKGROUND: Vaginal wall cysts and pelvic organ prolapse, although commonly encountered, rarely occur together. Typically, the differential diagnosis of vaginal wall prolapse includes anterior and/or posterior wall support defects. Although large vaginal cysts have the potential to disturb normal vaginal supports, these coexisting abnormalities are rarely reported. CASE: A 39-year-old multipara woman presented with a progressively enlarging vaginal bulge for 6 years, erroneously diagnosed as an enterocele with a unilateral paravaginal support defect. The enterocele was subsequently confirmed to be a 10 x 5-cm, thick-walled cystic mass histologically confirmed to be a Bartholin gland abscess. CONCLUSION: Unusual forms of vaginal prolapse require adequate ancillary investigation such as imaging to avoid diagnostic error and to improve preoperative planning and treatment.

Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound.

OBJECTIVE: To design a scheme to rank sonographic anomalies as indicators of aneuploidy and record the distribution of data from 2143 prenatal amniotic fluid/chorionic villous sample diagnoses referred for karyotyping because of fetal anomalies detected with ultrasound. METHODS: In all cases the records of sonographic anomalies were obtained prior to karyotyping. A cascade of seven prospective categories of ultrasound anomalies was chosen and the data were included in the highest compatible sonography category. The categories were in descending order: (I) combined central nervous system (CNS)/cranial shape and cardiac anomalies (excluding spina bifida and anencephaly); (II) key anomaly present (exomphalos/ intrauterine growth restriction/duodenal atresia/cystic hygroma/fetal hydrops/talipes--with other multiple anomalies); (III) CNS +/- other abnormality (excluding choroid plexus cyst, spina bifida, anencephaly); (IVa) increased nuchal translucency--first trimester +/- other abnormality; (IVb) increased nuchal thickening--second trimester +/- other abnormality; (V) cardiac anomaly +/- other abnormality; (VI) other markers of aneuploidy (pyelectasis/two vessel cord/echogenic bowel/short femur); and (VII) other (mostly isolated) malformations. RESULTS: There were 412/2143 (19.2%) chromosome abnormalities detected in this sonographically abnormal group. Overall, the prevalence of aneuploidy significantly ranged from 51 to 3% according to the above I-VII ultrasound categories and from approximately 1-80% for individual ultrasound anomalies. Likelihood ratios were derived for many ultrasound anomalies for several aneuploidy groups: trisomies of 13; 18; and 21; 45,X and 45,X mosaics; triploidy; other autosomal duplications and/or deletions; and other (than 45,X) sex chromosomal aneuploidies. CONCLUSION: It is suggested this data could be used to assist pre-procedural counselling of patients after the ultrasound scan in tertiary referral centres for prenatal cytogenetic diagnosis.