Biomedical subjects
Publications and source records attributed to G Milone.
Abdominal and back pain has until now been reported as a first sign of severe varicella in immunocompromised children only. We report two adult leukemia patients in whom these symptoms preceded visceral dissemination of varicella infection. Recognizing that this syndrome may occur in adult patients is of clinical importance, since it allows early diagnosis and treatment of the infection.
A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non-Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.
A case of trisomy 9p syndrome is reported. The karyotype showed a tandem duplication of the short arm and of the inverted heterochromatic block of chromosome 9. Unequal sister chromatid exchange seems to be the only possible cause of this finding.
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Even if different methods were employed in Hb A2 level detection, so far the borderline values between normal and pathological "range" depend on the different laboratories and techniques. The Authors report here an investigation carried out on Hb A2 levels using two different methods: the chromatographic technique by DEAE cellulose column, and the cellulose acetate electrophoresis. The investigation regards 46 normal and 50 beta-thalassemia obligate carrier samples. The results demonstrate that chromatographic technique provides a lowest misclassification rate with a greater reliability. Therefore the use of the microchromatographic procedure for beta-thalassemia screening is recommended.
In a dermatoglyphic study of 14 fra(X) boys (compared with a control group of 191 normal schoolboys), we observed the following statistically significant (p less than 0.01) differences: 1) lower frequency of ulnar loops on the fingertips, particularly on the 2nd and 3rd fingers, with a corresponding increase of whorls; 2) transverse course of main line A; 3) increased frequency of abnormal palmar creases. The log score index of Simpson et al [1984] identified 71.4% of our patients and that of Rodewald et al [1986] 64.2%. The different values of these indexes can probably be attributed to ethnic differences. We think that by combining the results of dermatoglyphic analysis from several centers a more discriminatory log score index can be obtained.
The use of recombinant erythropoietin for treatment of anemia in myelodysplastic patients has so far produced poorer results than expected. Most clinical studies have been conducted without any selection of patients. In the present study we report our experience with the use of rhEPO in a population of selected MDS subjects. Only patients affected by refractory anemia according to FAB criteria, without significant WBC and platelets reduction, with normal LDH and short history of disease were eligible for the study and were treated with rhEPO at a dosage of 150 mg/kg three times a week for 2 months. Among the 12 so treated patients, 7 (58.3%) achieved complete remission, 2 partial remission and 3 failed to respond. This high response rate makes more than acceptable the cost/benefit ratio for rhEPO in RA patients and may identify a subgroup of patients that can be treated successfully with rhEPO alone.
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A 61-year-old splenectomized male patient affected by hairy cell leukemia (HCL) in relapse was treated with interferon (IFN) at a dosage of 3 x 10(6) U/day. After only 11 days of treatment, IFN was stopped because the patient developed fever, jaundice and respiratory distress. Upon recovery from this infectious episode, the patient was judged to be in complete remission of HCL on the basis of clinical and laboratory findings, and he remained off-therapy for 2 years. When an overt relapse occurred, the patient was again treated with IFN and, after a very short time, he achieved a new, good partial remission that is maintained 28 months later without treatment. This observation remains speculative for understanding the mechanism of action of IFN in other comparable HCL cases.
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