Antithrombin deficiency in Brazilian patients with venous thrombosis: molecular characterization of a single splice site mutation, an insertion and a de novo point mutation.

The prevalence of antithrombin (AT) deficiency in 342 unselected Brazilian patients with venous thrombosis was 1.16%, which increased to 3% when only patients under the age of 50 or with a familial history of thrombosis were considered. In two patients, a clinical (contraceptive use) or genetic risk factor (factor V Leiden and C677T in the methylene tetrahydrofolate reductase gene [MTHFR]) was identified and corroborated the hypothesis that an interaction of factors accounted for the appearance of thrombosis. However, no risk factor other than AT deficiency was identified in one patient with an important clinical and family history of spontaneous thrombosis. Three mutations were identified in these patients: a G-->A transition in intron 5 at position +1 (5'-->3'), three base insertions corresponding to arginine at position 5383 in exon 3A, and a G-->A transition at 13328, corresponding to an Ala404Thr de novo mutation. The polymorphisms in the genes coding for coagulation factors XII and XIII and fibrinogen normally associated with an increased risk for venous thrombosis were not related to thrombosis in these patients. This is the first study in South America to assess the prevalence of AT deficiency and to report the molecular characterization of the mutations involved.

Lipomas colorretais: correlaçäo anatomoclínica de 29 casos / Colorectal lipomas: anatomoclinical study of 29 cases

Objetivo. Avaliar a ocorrência de lipomas colorretais, métodos diagnósticos e conduta terapêutica, com o intuito de estabelecer normas no atendimento dos portadores desta afecçäo. Casuística e Métodos. Revisadas autópsias feitas em período de 6 anos e estudados os prontuários de portadores de lipomas colorretais tratados entre 1965 e 1993, com ênfase ao quadro clínico, conduta diagnóstica e terapêutica. Os 29 portadores de lipomas intestinais submucosos foram distribuídos em três grupos. O grupo I, cujos lipomas foram detetados em necrópsias; o grupo II, com doentes sintomáticos, e um terceiro grupo de enfermos assintomáticos, com lipomas encontrados acidentalmente em peças cirúrgicas ressecadas por neoplasias ou durante procedimentos diagnósticos. Resultados. 0,6 por cento dos autopsiados apresentaram lipomas colorretais, situados, preferencialmente, no cólon direito, predominando em mulheres (70,0 por cento). No grupo II, a enterorragia foi o sintoma mais freqüente (54,5 por cento), seguida pela dor abdominal em cólica e por alteraçöes do hábito intestinal. A intussuscepçäo ocorreu em três doentes (27,3 por cento). Ao contrário da literatura, os lipomas sintomáticos localizaram-se, preferencialmente, no cólon esquerdo, sendo seu tamanho médio de 6,1cm. Os diagnósticos foram realizados por meio do enema opaco e, mais recentemente, pela colofibroscopia e tomografia computadorizada. Neste grupo, foram realizadas ressecçöes em dez doentes, sendo cinco amplas, três locais e duas endoscópicas. Um paciente eliminou, espontaneamente, seu lipoma. Lipomas múltiplos foram detetados em 30 por cento dos autopsiados e em 25 por cento do grupo assintomático. Nestes dois grupos, nenhum dos tumores era maior que 2,0cm de diâmetro. Conclusöes. Lipomas colorretais säo raros, quer na clínica diária, quer em autópsias. Antes do advento da colofibroscopia e da tomografia, a maioria dos doentes era submetida a ressecçäo extensa, na suposiçäo de doença maligna. Posteriormente, a polipectomia endoscópica e a ressecçäo local passaram a ser nossa conduta preferencial.

[Colorectal lipomas: anatomoclinical study of 29 cases]. / Lipomas colorretais: correlação anatomoclínica de 29 casos.

OBJECT: To evaluate the incidence of colorectal lipomas, its diagnostic methodology and therapeutic management. CASUISTIC AND METHODS: The reviewed necropsies performed in a six years period and the patients' records from colorectal lipomas cases treated up to 1965 until 1993 were studied enhancing the clinical presentation, their diagnosis and therapy. The 29 cases of submucosal intestinal lipomas were disposed in three groups. The first group with ten patients lipomas were detected at necropsies. The second group with 11 symptomatic patients and group three with 8 asymptomatic patients which lipomas were discovered accidentally in surgical specimens resected due to neoplasm or in the course of diagnostical procedure. RESULTS: 0.56% of patients who were submitted to necropsy disclosed colorectal lipomas situated preferentially in right colon and in female. Enterourhage was the most often symptom (54.5%) in the group two, followed by cramp abdominal pain. Intussusception appeared in three patients (27.3%). Contrary to the medical literature, the symptomatic lipomas were preferentially situated in left colon and its mean size was 6.1 cm. The diagnosis were performed through opaque enema and more recently by colofibroscopy and CT scan. Resections were performed in all patients: five were enlarged, three were local and other three were endoscopic resections. Multiple lipomas were detected in 30% of patients who were submitted to necropsy and in 25% of asymptomatic group. In both groups no tumor was larger than 2.0 cm of diameter. CONCLUSIONS: Colorectal lipomas are rare in both clinical presentation and necropsy. Before the advent of CT scan and colofibroscopy the majority of the patients were submitted to wide resections, in the assumption of malignancy. Afterwards the endoscopic polipectomy and local resection became our preferential management.

Renal calculi in spinal cord-injured patient: association with reflux, bladder stones, and foley catheter drainage.

Renal units associated with reflux in the spinal cord-injured (SCI) patient have a greater incidence of kidney stones developing than in the nonrefluxing units. It is logical to assume that SCI patients with persistent reflux and bladder stones treated with cystolitholapaxy would be at even higher risk for kidney stones developing. Of the 898 SCI patients studied (1,793 renal units), in 14.8 percent kidney stones developed. Kidney stones occurred in 161 of 1,517 (10.6%) of nonrefluxing units. Of the 276 renal units with reflux, in 104 (37.7%) an ipsilateral stone developed. Of the 198 patients in whom a kidney stone formed, 56.6 percent managed their bladder with a Foley catheter whereas only 28 percent of 700 patients in whom a stone did not form used a Foley catheter. On evaluating 261 patients (520 renal units) with bladder stones treated with cystolitholapaxy, 62.5 percent of these patients were managed with a Foley catheter. The association between cystolitholapaxy treatment, reflux, and the formation of kidney stones was (1) in 22 of 111 (19.8%) refluxing units, an ipsilateral stone formed; (2) in 70 of 409 (17.1%) units that were nonrefluxing, stones developed; and (3) overall, in 92 (17.7%) renal units, kidney stone developed. We concluded that kidney stone development is significantly increased in the SCI patient with reflux and/or Foley catheter drainage. From these data cystolitholapaxy treatment in the presence of reflux does not appear to increase the development of kidney stones.

Ewing sarcoma of the mandible: report of case.

A case of Ewing sarcoma, primarily localized in the mandible in a 19-year-old woman, is reported. The case report covers the initial symptoms, which are often misleading, the history, clinical, radiographic, and histologic features; and the treatment by surgery complemented with radiotherapy and chemotherapy.