[Nemaline congenital myopathy:clinical features and histopathological findings in nine patients]. / Miopatía congénita nemalínica: manifestaciones clínicas y hallazgos histopatológicos en nueve pacientes.

INTRODUCTION: Nemaline myopathy is a type of congenital myopathy which presents with hypotonia, muscle weakness which is predominantly proximal, lax ligaments, areflexia and skeletal deformities. It is characterized by the presence of intrasarcolemal or intranuclear rods which can be seen with the red color optical microscope using the Gomori technique, and a defect in the Z line of the sarcomere, detected on electron microscopy (EM). PATIENTS AND METHODS: A retrospective study of the cases of nemaline congenital myopathy diagnosed in our hospital between 1984 and 1997. All patients had clinical laboratory analysis (muscle enzymes), and electromyographic and histopathological (muscle biopsy) studies. In 5 cases EM was done. RESULTS: Nine patients, four males and five females were studied. Diagnosis was made during the first year of life in 7 cases (77.7%), and was characterized by hypotonia, severe areflexia and proximal muscle weakness, whilst the remainder were diagnosed in adolescence when they presented with a juvenile form of the disorder, with muscle weakness, amyotrophy and scoliosis. Muscle biopsy showed nemaline bodies in a variable proportion of fibres. Intranuclear rods were not identified in any case. In the 5 cases in which ultrastructural studies were done, alterations were detected in the Z line of the sarcomere. The immunohistochemical profile of the rods was positive for alphaactin. CONCLUSIONS: There are no clinical features which permit distinction from other forms of congenital myopathy, so muscle biopsy is necessary for diagnosis. There is great phenotype and prognostic variety in this disorder.

Dedifferentiated clear cell chondrosarcoma.

Dedifferentiation, a change in the histologic character and clinical behavior of a tumor to a more immature and aggressive one, occurs in approximately 11% of all chondrosarcomas. The original lesion is usually a low-grade chondrosarcoma. Clear cell chondrosarcoma is a rare cartilaginous tumor of low-grade malignancy with a preference for the ends of long bones. It is usually curable by resection. Recurrence commonly follows inadequate surgery, and metastases to lung, brain, and bones can develop. However, dedifferentiation has not yet been described in association with clear cell chondrosarcoma. Three patients are described who were initially diagnosed as having clear cell chondrosarcoma of the femur. Two were treated with en bloc resection for a clear cell chondrosarcoma. One of these had an undifferentiated sarcoma in a local recurrence after 6 years. In the second, metastasis of the clear cell chondrosarcoma developed 5(1/2) years after surgery; autopsy revealed undifferentiated sarcoma in the lung, heart, and lumbar spine. The third patient had dedifferentiated clear cell chondrosarcoma at the time of resection following the biopsy diagnosis of clear cell chondrosarcoma. All three died with metastatic disease. These three patients represent three different manifestations of dedifferentiation-at initial diagnosis, at recurrence, and at metastasis. To our knowledge, this is the first description of dedifferentiation occurring in clear cell chondrosarcoma.

Malignancy in pigmented villonodular synovitis.

Malignant pigmented villonodular synovitis is an extremely rare and controversial disease. We describe malignant change in pigmented villonodular synovitis of the ankle in a patient with an unusually long clinical history. Symptoms began at age 21, metastatic disease developed at age 85, and the patient died 1 year later. The histologic appearance of the malignant tumor differed from that in most reported cases, in that spindle-shaped cells predominated. Lymph node metastasis also developed, a feature uncommon to soft tissue sarcomas.

[Spinal cord schwannoma: case report]. / Schwannoma intramedular. Relato de caso.

The intramedullary localization of schwannomas is rare, corresponding to 0.3% of all intraspinal tumors. The authors report the case of a 52-year-old white female patient that presented with symptoms of spinal compression by the presence of an intramedullary schwannoma at the level C4-C6. There were no symptoms of neurofibromatosis, entity frequently related to the lesion. The magnetic resonance imaging examination and the per-operatory biopsy were decisive factors in planning and executing the treatment, by establishing the characteristics, location and diagnosis of the lesion. Its delimitation and posterior location have facilitated total surgical exeresis. The transoperatively histopathologic examination allowed adequate surgical procedure. The Schwann cell is not found normally in the central nervous system and its presence in this site has been subject of many theories exposed in this paper, which proposes comprehensive review of the clinical aspects, imaging diagnosis, pathology, differential diagnosis and treatment of schwannomas. It is probable that, with the advances verified in the available diagnostic methods, a greater number of these lesions may be diagnosed in the future.

[Autologous blood transfusion using preoperative collection and intraoperative recovery in orthopedic elective surgery]. / Transfuão autóloga usando os métodos de coleta pré-operatória e recuperação intra-operatória em cirurgias ortopédicas eletivas.

Between the period of January 1994 and June 1995, the results of Autotransfusion Program of the Hospital do Aparelho Motor SARAH-BSB were evaluated. The goals of the program are: 1. Minimise and, if possible, eliminate the risks of homologous transfusion; 2. Increase the security, efficiency and cost to benefits relation of the hemotherapic procedures; 3. Minimise the demand of blood products for those patients with difficult compatible blood to be found. The program has received 194 patients, among these, 100 have been selected for this study because they had had blood collection and surgery concluded. The average age of the patients was 34.3 years (11/72 years) median was 30 years and mode 15 years. The patients have undergone elective orthopaedic operations. Autologous transfusions have been made by predeposit and intraoperative salvage (Cell Saver). Six patients (6%) presented mild reactions associated to blood drawn. Additional homologous blood was needed to 20 (20%) patients. Our experience demonstrates the security and efficiency of transfusion in patients from childhood until elderly. It recommends the creation and expansion of existing programs using autologous transfusion in services with elective surgery. We also consider that nursing care stimulates patients participation in the program.

Estimulaçäo cardíaca atrioventricular sincrônica através de um eletrodo flutuante único (Modo VDD) / Synchronous atrioventricular stimulation of the heart with a single floating electrode (Mode VDD)

Um marcapasso bicameral que utiliza um eletrodo flutuante único para estimulaçäo no modo VDD foi implantado em 25 pacientes com distúrbios da conduçäo intra-cardíaca do tipo bloqueio atrioventricular total (21 pacientes) ou de 2o. grau (4 pacientes). Presumiu-se funçäo sinusial normal através do eletrocardiograma convencional e da história clínica. As etiologias dos distúrbios de conduçäo foram a miocardioesclerose (22 pacientes), cirúrgica (2 pacientes) ou a doença de Chagas (1 paciente). O eletro flutuante único SL 60 (Biotronik), dotado de dois sensores atriais situados a 13 cm da extremidade que contém o eletrodo ventricular unipolar, foi introduzido por via transvenosa. As medidas eletrofisiológicas (média +/_ erro padräo) no implante foram onda P de 2,87 +/_ 0,27 mV, QRS de 10,97 +/_ 0,92 mV e linmiar de estimulaçäo ventricular de 0,51 +/_ 0,04 V. O gerador de pulsos Dromos SL (Biotronik) foi mantido na programaçäo padräo. Após implante os pacientes realizaram teste ergométrico e/ou eletrcrdiograma ambulatorial de 24 horas. As complicaçöes registradas foram a perda da sensibilidade atrial em dois pacientes (8 por cento), requerendo reposicionamento do eletro, insuficiência cronotrópica ao exercício por bradicardia sinusal em um (4 por cento) e estimulaçäo de músculo peitoral ou inibiçäo temporária do gerador por miopotenciais em um (4 por cento), solucionada por reprogramaçäo. Em até 6 meses de seguimento, 24 pacientes (96 por cento) apresentam sincronismo atrioventricular adequado graçs estimulaçäo procuzida pelo marcapasso implantado. O implante de um marcapasso atrioventricular sequencial com eletrodo flutuante único é simples e a estimulaçäo VDD é efetiva em pacientes com bloqueios cardíaco e funçäo sinusal normal. Seu uso em pacientes chagásicos deve ser avaliado, pois miopotenciais cardíacos reduzidos podem comprometer a sensibilidade atrial.

Correcao da coartacao da aorta pela istmoplastia com a arteria subclavia esquerda em pacientes sintomaticos no primeiro ano de vida. / Repair of aortic coarctation by isthmoplasty with left subclavian artery in symptomatic patients in the 1st year of life

Oito pacientes, portadores de coartacao de aorta e idade variando entre 29 dias e 5 meses, foram operados no Instituto de Cardiologia do Rio Grande do Sul, pela tecnica da istmoplastia com a arteria subclavia esquerda Todos possuiam canal arterial persistente e 5 tinham outro defeito intracardiaco associado.Tres pacientes tiveram a bandagem da arteria pulmonar como procedimento associado. Houve 1 obito nas 24 horas de pos-operatorio e os 7 pacientes sobreviventes apresentam pulsos pediosos normalmente palpaveis e cifras tensionais normais nos membros superiores num periodo de acompanhamento de 2 a 30 meses de pos-operatorio. Dois pacientes foram cateterizados novamente, nao apresentando gradiente na zona de anastomose

Surgical treatment of annuloaortic ectasia with composite grafts including homologous dura mater valves.

We describe 3 patients in whom a composite dura mater valve-Dacron tube graft was used for replacement of the entire ascending aorta and aortic valve. Two patients had Marfan's syndrome and 1, a chronic aortic dissection, type II. All had severe aortic regurgitation. There were no early or late deaths in a follow-up period of 2, 7, and 12 months, respectively. All 3 patients were asymptomatic when last seen. Two underwent postoperative aortography that disclosed well-functioning valves and good filling of the coronary arteries. It is concluded that annuloaortic ectasia is best treated by the technique of total replacement of the ascending aorta and aortic valve by a composite valve-tube graft, and that the homologous dura mater valve, for its characteristics of central flow, lack of need for anticoagulants, and durability, represents a reasonable alternative for use in this situation.

Congenital dislocation of the hip in the newborn. A correlation of clinical, roentgenogrhic and anatomical findings.

This study correlates roentgenography, arthrography, morbid anatomy and histology in four newborn infants with congenital dislocation of the hip. Three died shortly after birth. In two of these, manipulative reduction was impossible. Both demonstrated secondary adaptive changes at autopsy, indicating that the dislocation had been present for some time in utero. The first had a paralytic dislocation (meningomyelocele), and the second showed no pathologic findings other than the dislocated hip. The third infant had a dislocation that was reduced at birth. The child died of pneumonia on the 15th day. At autopsy, no secondary adaptive changes were found in the hip. The fourth infant, who had undergone open reduction because of a dislocation irreducible at birth, was retrospectively found to have an intrauterine dislocation when the maternal roentgenogram was reviewed. Significant secondary adaptive changes were noted at the time of operation.