Frequencies of allele groups HLA-A, HLA-B and HLA-DRB1 in a population from the northwestern region of São Paulo State, Brazil.

The aim of this study was to estimate the HLA-A, HLA-B and HLA-DRB1 allele groups frequencies in a population of 1559 volunteer bone marrow donors from the northwestern region of São Paulo State grouped according to ethnicity. An additional objective was to compare the allele frequencies of the current study with data published for other Brazilian populations. The allele groups were characterized by the PCR-rSSO method using Luminex(®) technology. Twenty HLA-A, 32 HLA-B and 13 HLA-DRB1 allele groups were identified. The most common allele groups in European descent and mixed African and European descent samples were HLA-A*02, HLA-B*35 and HLA-DRB1*13, while HLA-A*02, HLA-B*35 and HLA-DRB1*11 were more common in African descent samples. The HLA-A*23, HLA-A*36, HLA-B*58 and HLA-B*81 allele groups were more common in sample from African descent than European descent, and the HLA-DRB1*08 was more common in mixed African and European descent than in European descent. Allele group frequencies were compared with samples from other Brazilian regions. The HLA-A*30 and HLA-A*23 were more common in this study than in the populations of Rio Grande do Sul and Paraná; and the HLA-A*01, HLA-B*18, HLA-B*57 and HLA-DRB1*11 were more common in this study than in the population of Piauí. The least frequent allele groups were HLA-A*31, HLA-B*15, HLA-B*40 and HLA-DRB1*08 for the population of Piauí, HLA-A*01 and HLA-A*11 for Parana, HLA-A*02 and -A*03 for Rio Grande do Sul and HLA-DRB1*04 for Paraná, Rio Grande do Sul and Piauí. These data provide an overview on the knowledge on HLA diversity in the population of the northwestern region of São Paulo State and show that the genes of this system are useful to distinguish different ethnic groups.

Clonal monosomy of chromosome 21 in a case of myelodysplastic syndrome.

This study reports on a cytogenetic finding in a bone marrow examination of a 47-year-old male patient treated in the Hematology and Blood Transfusion Service of the Hospital de Base in São José do Rio Preto, São Paulo State, Brazil. The only alteration found at diagnosis of myelodysplastic syndrome (MDS) subtype refractory anemia with excess blasts (RAEB-2) was clonal monosomy of chromosome 21. The patient evolved to acute myeloid leukemia type M2 and died nine months after diagnosis. Clonal monosomy of chromosome 21, as the only cytogenetic abnormality in MDS, has only been reported three times previously. This uncommon cytogenetic abnormality in MDS has been associated with a poor clinical course, although more data will be needed to determine if this prognosis is invariable.

Global gene expression profile in myelodysplastic syndromes using SAGE.

The molecular pathogenesis of myelodysplastic syndromes (MDS) is poorly understood. In order to expand our knowledge of genetic defects in MDS, we determined the overall profile of genes expressed in bone marrow from patients with refractory anemia with excess blasts (RAEB) by serial analysis of gene expression (SAGE). The present report describes a partial transcriptome of RAEB bone marrow derived from 56,694 sequenced tags that provides information about expressed gene products. This is the first attempt to determine an overall profile of gene expression specifically in RAEB at diagnosis using SAGE, which should be useful in the understanding of the physiopathology of MDS and in identifying the genes involved.

Diagnostic approach to hepatic hemangiomas detected by ultrasound.

Eighty cases of hepatic hemangioma were studied using ultrasound. In one group consisting of 28 subjects a final diagnosis of hepatic hemangioma was supported by arteriography (21 cases) or surgery (7 cases). In the remaining 52 cases, the diagnosis was uncertain and the normal clinical and biochemical findings with the ultrasound follow-up studies at intervals of 3, 6 and 12 months, made a diagnosis of hemangioma highly probable. Twenty-nine cases (9 cases of the first group and 20 of the second) were also evaluated by Tc-99m colloid and in vivo Tc-99m-labelled red blood cell scintigraphy. On the basis of ultrasound appearance and internal structure, hemangiomas may be divided into three groups: hyperechoic pattern (of which there were 16 cases in our study), cystic or anechoic pattern (5 cases), and complex pattern (7 cases). Fifty-two cases of uncertain diagnosis showed hyperechoic focal lesions with rounded, well-defined margins and no clinical or biological abnormalities. Differentiation from malignant forms must be approached according to the specific ultrasound pattern observed and the presence or absence of symptoms. Only in cases of hyperechoic, well-defined lesions detected in asymptomatic patients may a reliable diagnosis of hemangioma be made. The use of in vivo Tc-99m-labeled red blood cell scintigraphy (Tc-99m RBC scintigraphy) is useful in hyperechoic and cystic forms having a diameter greater than 3 cm. Complex forms invariably require additional studies, using complementary procedures (angiography, angio-CT) to confirm diagnosis.

Long term follow-up of mild chronic active hepatitis.

A group of 41 patients (25 males and 16 females) with mild chronic active hepatitis was studied for a mean follow-up period of 6.5 years. All patients had liver biopsy on admission and a second biopsy during the follow-up period. All but 7 patients were treated with prednisolone. Most of the patients were asymptomatic. There was no history of alcohol abuse or chronic administration of drugs. Fourteen patients were HBsAg positive and 27 HBsAg negative. Circulating autoantibodies were absent. Thirty-three patients did not demonstrate any change in disease activity. Four developed liver cirrhosis and four were apparently cured.

Serum alkaline phosphatase isoenzymes: the fast liver fraction in the diagnosis of hepatobiliary disease with or without cholestasis.

Serum alkaline phosphatase (ALP EC 3.13.1) isoenzyme patterns were studied in 110 patients with hepatobiliary disease in order to evaluate whether the appearance of the fast liver fraction, absent in normal subjects, could be a marker of cholestatic mechanism. This possibility was studied even when the ALP values are borderline or within normal limits. In conclusion it was found that the fast liver fraction, absent in normal subjects, can satisfactorily discriminate between cholestatic and non-cholestatic disease. Statistical analysis has shown a sensitivity of 98%, a specificity of 92%, a predictable positive value of 90%, a predictable negative value of 98% and a validity of 95%. False positive are 10% and false negative 2%; chi 2 test was 45.008, p less than 0.001. The results show that the presence of this fraction, besides being highly specific, is also an early marker for cholestasis.