Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy / Desempenho funcional e força muscular em portadoras sintomáticas de distrofia muscular de Duchenne

Abstract Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies. Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance. Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations. Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

Resumo A distrofia muscular de Duchenne (DMD) geralmente afeta indivíduos do sexo masculino. No entanto, mulheres também são acometidas em casos raros. Aproximadamente 8% das portadoras de DMD têm fraqueza muscular ou cardiomiopatia. A identificação precoce das alterações funcionais e motoras pode alterar a tomada de decisão clínica. Objetivo: Investigar as deficiências motoras e funcionais de 10 pacientes do sexo feminino com distrofinopatia diagnosticada por estudos clínicos, patológicos, genéticos e imuno-histoquímicos. Método: Estudo descritivo de uma amostra de portadoras sintomáticas de mutações DMD. As variáveis estudadas foram força muscular e desempenho funcional. Resultados: A prevalência foi de 10/118 (8,4%) de portadoras sintomáticas de DMD. Foram encontradas deleções em sete pacientes. A idade de início dos sintomas em portadoras de DMD foi variável. Pseudo-hipertrofia de panturrilhas, movimentos compensatórios, fraqueza muscular e aumento no tempo de execução de tarefas funcionais foram observados na maioria dos casos. Diferentemente dos homens com DMD, sete pacientes apresentaram fraqueza muscular assimétrica. A apresentação assimétrica da fraqueza muscular foi frequente, podendo afetar a postura e a funcionalidade. O desempenho funcional geralmente apresenta aumento no número de movimentos compensatórios. Não podemos sempre considerar o tempo como um bom marcador de funcionalidade para essa população, uma vez que não muda na mesma proporção que o número de compensações em todas essas pacientes. Conclusão: Fraqueza muscular assimétrica e movimentos compensatórios, ou ambos, podem ser encontrados em portadoras sintomáticas de DMD, o que pode afetar a postura e a funcionalidade dessas pacientes.

Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez / Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico

Resumen Objetivo: Determinar la prevalencia y espectro de las enfermedades que predisponen la muerte súbita cardiaca en niños mexicanos e identificar los principales signos y síntomas tempranos que pueden permitir al personal de salud sospechar acerca de estas enfermedades y referir a los pacientes a un hospital de tercer nivel de manera temprana. Métodos: La incidencia, prevalencia y prevalencia de periodo, así como los primeros síntomas, los datos clínicos y el seguimiento, se describen en todos los niños con enfermedades que predisponen a la muerte súbita cardiaca en el Hospital Infantil de México. Resultados: Cincuenta y nueve pacientes de 8 ± 5 años, 40 con miocardiopatías y 19 con enfermedades arritmogénicas hereditarias. La prevalencia del periodo fue de 9.5/1,000 pacientes/año. Los primeros síntomas más comunes fueron disnea, palpitaciones y síncope. En 9 casos se encontró un patrón de herencia mendeliana. Tres pacientes fallecieron de muerte súbita cardiaca durante el periodo de estudio. Conclusión: Las enfermedades que predisponen a la muerte súbita cardiaca en los niños no son muy conocidas por la comunidad médica y general. Todo niño con disnea, palpitaciones y/o síncope debe referirse para la búsqueda intensiva de estas enfermedades. Una evaluación cardiológica completa en todos los miembros de la familia está indicada.

Abstract Objective: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. Methods: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. Results: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. Conclusion: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

Miocardiopatia periparto / Peripartum cardiomyopathy

A miocardiopatia periparto (MCPP) é doença rara, reconhecida como entidade distinta das cardiomiopatias preexistentes, de ocorrência em mulheres previamente saudáveis, durante o período periparto. É pouco conhecida em relação a sua etiologia, risco e prognóstico. As manifestações clínicas mais comuns são as da insuficiência cardíaca sistólica. Sua terapia farmacológica convencional inclui diuréticos, digoxina, inibidores da enzima conversora de angiotensina, bloqueadores dos receptores de angiotensina e bloqueadores beta-adrenérgicos. Os pacientes refratários à terapia farmacológica convencional requerem o suporte circulatório mecânico e o transplante cardíaco. Não existe consenso sobre os riscos de futuras gravidezes em pacientes com MCPP prévia.

Peripartum cardiomyopathy (PPCM) is a rare disease, recognized as a distinct entity from preexisting cardiomyopathy. It occurs in previously healthy woman, during the peripartum period. PPCM is still a little known disease concerning its etiology, risk and prognosis. The most common clinical manifestations are those of systolic heart dysfunction. The objective of the study is to review the scientific literature about the several aspects of PPCM. A total of 19 publications were evaluated. The conventional therapy for congestive heart failure includes diuretics, digoxin, angiotensin-converting enzyme inhibitors (ACEI), angiotensin II receptor blockers (ARB) and beta-adrenergic blockers. For those patients who are resistant to all conventional pharmacological therapy, the viable options are cardiac transplant and mechanical circulation support. There is no consensus about the recommendations on risk of future pregnancies in these patients. Results demonstrate the need for more studies to the understanding of this disease etiology, epidemiology and prognosis.

Incidência de complicações relacionadas à massagem do seio carotídeo em 502 pacientes ambulatoriais / Incidencia de complicaciones relacionadas al masaje del seno carotídeo en 502 pacientes ambulatorios / Complications related to carotid sinus massage in 502 ambulatory patients

FUNDAMENTO: A massagem do seio carotídeo (MSC) é uma técnica simples, de baixo custo e com muitas indicações. OBJETIVO: Determinar a segurança da MSC em pacientes ambulatoriais com alta prevalência de doença aterosclerótica e de cardiopatia. MÉTODOS: Estudo transversal. Critérios de inclusão: pacientes ambulatoriais com idade > 50 anos, encaminhados para realização de eletrocardiograma (ECG). Critérios de exclusão: indivíduos que não aceitaram participar de um estudo sobre a prevalência da resposta cardioinibitória à MSC, pacientes com demência, portadores de marca-passo, indivíduos com sopro carotídeo ou com história de AVC ou IAM nos últimos 3 meses. A MSC foi realizada na posição supina durante 10 segundos. Foram consideradas complicações da MSC a ocorrência de arritmias sustentadas e o aparecimento de déficit neurológico durante a MSC ou nas primeiras 24 horas após o seu término. RESULTADOS: Foram selecionados aleatoriamente 562 pacientes de um total de 1.686 indivíduos com critérios de inclusão. Sessenta indivíduos apresentaram critérios de exclusão. Os 502 pacientes restantes (52 por cento homens, idade média de 65 anos, 69 por cento cardiopatas e 50 por cento com doença aterosclerótica) foram submetidos a 1.053 MSC. Dois pacientes apresentaram complicações (0,4 por cento; IC95 por cento:0 por cento-0,9 por cento). Um homem de 71 anos apresentou monoparesia do braço esquerdo com regressão completa em 30 minutos. Outro homem, de 56 anos, apresentou hemianopsia homônima à esquerda que regrediu em 7 dias. CONCLUSÃO: A incidência de complicações relacionadas à MSC foi pequena, particularmente quando se considerou que a população submetida à manobra era idosa e com alta prevalência de cardiopatia estrutural e de doença aterosclerótica.

BACKGROUND: The carotid sinus massage (CSM) is a simple and low-cost technique with many indications. OBJECTIVE: To determine the safety of CSM in outpatients with high prevalence of atherosclerotic disease and cardiopathy. METHODS: A transversal study. Inclusion criteria: Outpatients aged >50 years, referred for ECG. Exclusion criteria: Individuals that refused to participate in a study on the prevalence of the cardioinhibitory response to CSM, patients with dementia, patients with pacemakers, individuals with carotid murmur or history of stroke or AMI in the last three months. The CSM was carried out in the supine position during 10 seconds. The occurrence of sustained arrhythmias or the occurence of neurological deficit during the CSM or in the first 24 hours after its end were considered complications of the CSM. RESULTS: 562 patients were randomly selected from a total of 1,686 individuals that met the inclusion criteria. Sixty individuals met the exclusion criteria. The remaining 502 patients (52 percent males, 69 percent with cardiopathies and 50 percent with atherosclerotic disease) were submitted to 1,053 CSM. Two patients presented complications (0.4 percent; 95 percentCI:0 percent-0.9 percent). A 71-yr-old man developed left arm monoparesis with complete regression within 30 minutes. Another 56-yr-old man presented left homonymous hemianopsia, with regression after 7 days. CONCLUSION: The incidence of CSM-related complications was small, particularly when considering that the population submitted to the maneuver was elderly, with high incidence of structural heart disease and atherosclerotic disease.

FUNDAMENTO: El masaje del seno carotídeo (MSC) es una técnica simple, de bajo costo y con muchas indicaciones. OBJETIVO: Determinar la seguridad del MSC en pacientes ambulatorios con alta prevalencia de enfermedad aterosclerótica y cardiopatía. MÉTODOS: Estudio transversal. Criterios de inclusión: pacientes ambulatorios con edad >50 años, orientados a realizar el electrocardiograma (ECG). Criterios de exclusión: individuos que no aceptaron participar de un estudio sobre la prevalencia de la respuesta cardioinhibitoria al MSC; pacientes con demencia; portadores de marcapaso; individuos con soplo carotídeo o historia de ACV o IAM en los últimos 3 meses. Se realizó el MSC en posición supina durante 10 segundos. Se consideraron complicaciones del MSC: la ocurrencia de arritmias sostenidas y el aparecimiento de déficit neurológico, ya sea durante el MSC, ya sea en las 24 horas subsecuentes a su término. RESULTADOS: Se seleccionaron, de modo aleatorio, a 562 pacientes, de un total de 1.686 individuos con los criterios de inclusión. El total de 60 individuos presentaron criterios de exclusión. Los 502 pacientes restantes (el 52 por ciento varones, edad promedio de 65 años, el 69 por ciento cardiópatas y el 50 por ciento con enfermedad aterosclerótica) se sometieron a 1.053 MSC. La cantidad de dos pacientes presentaron complicaciones (0,4 por ciento; IC95 por ciento:0 por ciento-0,9 por ciento). Un varón de 71 años presentó monoparesia del brazo izquierdo con regresión completa en 30 minutos. Otro varón, de 56 años, presentó hemianopsia homónima izquierda, que retrocedió en 7 días. CONCLUSIÓN: La incidencia de complicaciones relacionadas al MSC resultó pequeña, particularmente cuando se consideró que la población sometida a la maniobra era anciana y con alta prevalencia tanto de cardiopatía estructural como de enfermedad aterosclerótica.

Frequency of cardiac defects among children at echocardiography centre in a teaching hospital

To assess frequency of cardiac defects among children from birth to 12 years of age on echocardiography basis. A cross sectional study was conducted at echocardiography centre in coronary care unit at Bahawal Victoria Hospital Bahawalpur for fifteen months from April 2007 to July 2008. A sample of 150 patients [<12 years age] were selected by non-probability convenience sampling technique. The cardiologists performed echocardiography by Paediatric Transthoracic echo probe; 2-D colour Doppler, Acuson CV-70 and Niemo-30 echocardiography machines. Mothers of children with cardiac defects were interviewed at the echocardiography centre. Variables included were A- Muscular plus Vascular defects; B- Valvular defects; C-Pericardial effusion; D- Dextrocardia and E- Congestive cardiac failure. History of children for sore throat followed by joint pains; history of mothers for drug intake [antihypertensive, antipyretic, anti-emetic, hypoglycaemic] as well as chronic diseases [diabetes mellitus, hypertension, anaemia] during pregnancy were surveyed. Parity of mothers, their cousin marriages, and family socio-economic status was also inquired. The results were tabulated, analyzed and finally subjected to suitable test of significant [SR of proportion] to find out statistical significant if any. It was found that out of 150 patients, 76 [50.66%] were suffering from Cardiac muscular and Vascular defects, 61 [40.66%] Valvular defects, 7 [4.66%] Pericardial effusion, 2 [1.33%] Dextrocardia and 4 [2.66%] from Congestive Cardiac Failure. According to age, 54 [36%] were from birth to 3 years of age and 51 [34%] from 10 to 12 years. There was history of Rheumatic fever among 45 [30%] children. There were 106 [70.6%] children from lower socio-economic class and 79 [52.6%] parents had history of cousin marriages. Frequency of cardiac defects was more in children of male sex, lower socio-economic group, from birth to three years age and children from primipara mothers in our specified locality. Rheumatic fever, cousin's marriage, and prescribed drugs intake during pregnancy [for metabolic and hormonal disorders] were other contributors to cardiac defects

Unusual clustering of diseases and manifestations in pediatric admissions of a tertiary care center.

BACKGROUND: Cluster investigations has been an important tool in investigations of diseases. While clustering of diseases or a manifestation in community can cause great public alarm, similar unexplained clustering in hospital admissions has baffled clinicians. Objectives: (a) To determine whether perceived unexplained clustering of diseases and manifestations among hospital admissions is real or significant. (b) To look for possible explanations of such clustering. DESIGN: One-year prospective observational and two-year retrospective study. MATERIAL AND METHODS: Cases admitted under pediatric and neonatal services (excluding rooming in babies) from September 2002 to August 2003 formed material for prospective and cases admitted for 2 years prior for retrospective study. Whenever an unexplained cluster of disease/manifestation was perceived, case definition was finalized and cases recorded. Retrospective cluster analysis was done for some significant unexplained clusters detected prospectively. These clusters case rate were analyzed in relation to age, sex, climatic conditions, etiology of case, etc. to detect any correlation. Pearson correlation coefficient, chi-square test, centroid method and Z test of proportion were used for statistical significance. RESULTS: Eight unexplained clusters were perceived in prospective study. 3 (hyperbilirubinemia in exchange range hypocalcemic seizures and vesicoureteric reflux) proved statistically not significant. 3 were small clusters of uncommon diseases / manifestations (biliary atresia, cardiomyopathy, and acral gangrene). Two large significant clusters, major non-traumatic bleeding manifestations (MNTBM) and acute renal failure (ARF) occurred to which retrospective study was extended. Tmax and Tmin (average maximum and minimum daily temperature) had statistically significant positive correlation with ARF (gamma = + 0.83, P <0.001 for Tmax and gamma =+ 0.56, P = 0.002 for Tmin) and negative correlation with MNTBM (gamma = - 0.34, P = 0.040 for Tmax and gamma = - 0.59, P <0.001 for Tmin). Barometric pressure has significant negative and positive correlation with MNTBM and ARF respectively (gamma =+ 0.57, P <0.001 for MNTBM and gamma = -0.45,P = 0.006 for ARF). The clusters also had significant positive correlations with female sex and age under 1 year (Z = 2.48, P <0.001,chi2=13.83, P<0.001 for sex and age of MNTBM and Z =3.11, P <0.001, chi2 =10.85, P <0.001 forage and sex of ARF cases respectively). Three small clusters and a small subgroup of MNTBM(subcutaneous nodules as manifestations of bleeding disorders) occurred predominantly under one year and different sexes were involved. CONCLUSIONS: Several significant unexplained clustering were noted among hospital admissions. There was significant correlation with climatic conditions, age and sex. Larger, longer and multicentric studies in different geographical areas are required to investigate more plausible but complex biological phenomenon and associations related to diseases or manifestations. Cluster awareness has diagnostic and management implications for clinician as it also helps in early recognition of disease outbreak and dissemination of information and hospital staff to be prepared to handle increased number of cases and its treatment.

Formas de abordagem do profissional de enfermagem no seguimento de pacientes com cardiomiopatia e insuficiência cardíaca / Nurse professional approach in the follow-up of patients with cardiomyopathy and heart failure

Este trabalho teve o objetivo de relatar duas experiências de formas de abordagem do profissional de enfermagem no seguimento de pacientes com cardiomiopatia e insuficiência cardíaca, vivenciadas no Instituto do Coração (InCor/HC-FMUSP) de São Paulo. A primeira abordagem foi para avaliar a qualidade de vida de pacientes portadores de insuficiência cardíaca sintomática, submetidos a tratamento com carvedilol a longo prazo, além do tratamento convencional. Os pacientes responderam ao questionário de qualidade de vida (LIhFE ù ôMinnesota Living With Heart Failure Questionnaireö ù Minnesota, 1986), antes e 12 meses após o início do tratamento. Na segunda abordagem foi realizado um estudo genético de 12 famílias de pacientes portadores de cardiomiopatia hipertrófica, por uma equipe multidisciplinar, com o objetivo de caracterizar os indivíduos afetados e os respectivos genes relacionados. Ao profissional de enfermagem coube a organização das viagens com todos os detalhes, a orientação dos pacientes e familiares, a coleta, a centrifugação, a separação, o armazenamento e o transporte das amostras de sangue colhidas.

Características evolutivas do Cysticercus cellulosae no encéfalo e no coração humanos / Developmental characteristics of Cysticercus cellulosae in the human brain and heart

O presente estudo teve como objetivos avaliar a prevalência de cisticercose, classificar as etapas evolutivas dos cisticercos encontrados nos encéfalos e coraçöes humanos, diferenciá-las de acordo com os aspectos macro e microscópicos dos processos patológicos gerais e comparar os processos encontrados nos encéfalos e coraçöes. Foram revisados protocolos de autópsias realizadas no Hospital Escola da Faculdade de Medicina do Triângulo Mineiro, Uberaba, MG, Brasil, no período de 1970 a 2000. Verificou-se a prevalência da cisticercose em 71 casos, sendo 18 (25,4 por cento) de cisticercose cardíaca e 53 (74,6 por cento) de encefálica. Foram analisados 19 cisticercos, sendo 9 de encéfalos e 10 de coraçöes. Os cisticercos foram classificados, de acordo com sua fase evolutiva, em etapas: vesicular, vesicular coloidal, granular nodular e nodular calcificada, com similaridade entre os diagnósticos macro e microscópico. Entre os processos patológicos destacaram-se a beta-fibrilose e a fibroelastose endocárdica. Adicionalmente, demonstrou-se que a classificaçäo pode ser aplicada tanto na cisticercose encefálica como na cardíaca

echocardiographic study of 129 cases of cardiomyopathy

One hundred and twenty nine cases of cardiomyopathy [CMP] were diagnosed echocardiographically among 2374 patients 11 months and ten days period. The mean age was 50 years with no sex predominance. 91.47% had dilated CMP, with impaired left venticular [LV] systolic function. Echocardiographically detectable common features include, LV systolic dysfunction, pulmonary artery hypertension, and mitral regurgitation. The prevalence of CMP in the target population was 5.43%. More studies are needed to outline local prevalence and incidence of disease and to outline the aetiological and risk factors for cost effective primary and secondary preventive strategies

Transplante cardíaco humano no Brasil / Human heart transplantation in Brazil

PURPOSE--To analyze patients operated on in Brazil from May 1968 until June 1993. METHODS--Three patients were transplanted in the historical period of 1968 and 1969. In the modern period from 1984-1993, 380 transplants were performed in 379 patients. These patients were transplanted in 23 services in 20 hospitals. These services are in 12 cities of 11 states. The state with the larger number of patients was Säo Paulo with 239 transplants followed by Minas Gerais with 58. RESULTS--In this casuistry, the patients were predominantly male (81//) with age between 31 and 40 years (30//). The most frequent indication was idiopathic dilated cardiomyopathy (53.4//) followed by ischemic (26.8//) and with a special reference for the Chagas' etiology (11//). The results in 297 patients showed 48 immediate and 49 late deaths. The actuarial survival curve showed 64.7//and 47.4//respectively after one and five years. CONCLUSION--Important differences were observed in relation to the international casuistry but even so benefits were present when compared with medical treatment

Octogenários: resultados de 3659 necrópsias (12 anos de observaçäo) / Octogenarians: results of 3659 necropsies (12 years of observation)

No InCór, no período compreendido entre janeiro de 1978 e dezembro de 1990, foram realizadas 3659 necropsias, das quais 106 relativas a pacientes com idade ( 80 anos. Destes, 55 (51,88 por cento) eram do sexo masculino e 51 (48,1l por cento) do feminino. A média de idade foi igual a 83,66 (80 a 93 anos). Dentre os principais sintomas (Gráfico 3) apresentados figuravam: a angima do peito em 40,56 por cento, a dispnéia em 25,47 por cento e a síncope em 8,49 deles. Em 47,16 por cento dos pacientes os sintomas haviam se iniciado a mais de seis meses. Dentre os sistemas desencadeantes dos óbitos (Gráfico 1), encontramos o cardiovascular em 74,52 por cento, o respiratória em 10,37 por cento, o digestivo em 9,43 por cento, o nervoso em 1,88 por cento, o urinário em 1,88 por cento e outros em 1,88 por cento. Entre os óbitos cardiovasculares (Gráfico 2), 56,96 por cento foram devidos a coronariopatia, 12,65 por cento a miocardiopatia, 10,12 por cento devido aos aneurismas da aorta e 8,86 por cento atribuídos às arritmias. Baseados na casuística prévia e considerando: 1) que o sistema cardiovascular foi o maior determinante dos óbitos (74,52 por cento); 2) que as coronariopatias foram responsáveis por 56,96 por cento dos óbitos cardiovasculares; 3) que a revascularizaçao convencional neste grupo tem mortalidade atual de 8,5 por cento; 4) que a angioplastia primária foi bem sucedida em 93,2 por cento, concluímos que ambas, a qualidade e a expectativa de vida, podem ser melhoradas trazendo o octogenário para próximo do médico, ou reduzindo o intervalo entre suas avaliaçoes.

Endomyocardial biopsy: a review of its current role and usefulness.

Endomyocardial biopsy via transvascular technique is safe. It shows a wide range of clinical applications. The fresh endomyocardial tissue thus obtained is very helpful for further research in the field of cardiac pathology. It facilitates almost all sophisticated techniques that need fresh and viable cells. Results of the study are relevant and mostly clinically useful. However, application of this technique to the study of heart diseases in Thai people is still limited. This may be partly due to excessive patient fear according to the general belief that the heart is the utmost important part of life. Other possible explanations include the doubt about the safety of this procedure and the benefit that they will receive. Then, any misunderstanding should be corrected and this technique should be encouraged when clinically indicated.