Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases

Loss of a whole chromosome 7 or a deletion of the long arm, del(7q), are recurring abnormalities in malignant myeloid diseases. To determine the location of genes on 7q that are likely to play a role in leukemogenesis, we examined the deleted chromosome 7 homologs in a series of 81 patients with therapy-related or de novo myelodysplastic syndrome or acute myeloid leukemia. Our analysis showed that the deletions were interstitial and that there were two distinct deleted segments of 7q. The majority of patients (65 of 81 [80%]) had proximal breakpoints in bands q11-22 and distal breakpoints in q31-36; the smallest overlapping deleted segment was within q22. The remaining 16 patients had deletions involving the distal q arm with a commonly deleted segment of q32-33. To define the proximal deleted segment at 7q22 at a molecular level, we used fluorescence in situ hybridization with a panel of mapped yeast artificial chromosome (YAC) clones from 7q to examine 15 patients with deletion breakpoints in 7q22. We determined that the smallest overlapping deleted segment is contained in a well- defined YAC contig that spans 2 to 3 Mb. These studies delineate the region of 7q that must be searched to isolate a putative myeloid leukemia suppressor gene, and provide the necessary cloned DNA for more detailed physical mapping and gene isolation.     

Association between physical performance characteristics and independence in activities of daily living in middle‐aged and elderly men

Aim: Functional status at one moment in time is a determinant of future functional status and survival. Physical deterioration tends to occur early in the disabling process; however, etiological questions remain. This study investigated the association between physical performance characteristics and functioning independently in middle‐aged and elderly men. Methods: A total of 400 independently‐living men aged 40–80 years were included in this cross‐sectional study. Preservation of function was measured using the Stanford Health Assessment Questionnaire. Physical characteristics were muscle strength and power by dynamometer, lung function, lower extremity function by physical performance score, and physical activity by Voorrips‐questionnaire. Logistic regression analysis was used to estimate the association between potential determinants and the dichotomized Health Assessment Questionnaire score. The odds ratios (OR) were adjusted for age, body mass index, education, socioeconomic status, smoking, alcohol and number of chronic diseases. Results: After adjustment for confounders, higher walking speed (OR = 2.96, 95% CI 1.31–6.72) and shorter time to carry out the chair stand test (OR = 0.84, 95% CI 0.76–0.94) were associated with a higher probability of being independent in activities of daily living (ADL). Borderline significant associations were found for higher lung function and higher leg strength with higher probability of being independent in ADL. No associations were found for grip strength, physical performance score, standing balance and physical activity. Conclusion: Lower body function and lung function were associated with a higher probability of being independent in ADL. Geriatr Gerontol Int 2013; 13: 274–280 .     

Isolation of an abnormal protein C molecule from the plasma of a patient with thrombotic diathesis

Protein C has been purified from the plasma of a patient with thrombotic diathesis. Both before and after isolation, the protein showed reduced capacity to hydrolyze synthetic substrates and to anticoagulate plasma. Proteolysis with the soluble thrombin- thrombomodulin complex proceeded normally and to completion as judged by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and Western blotting. Approximately one-third of the protein is functional, indicating a heterozygous defect. Indirect studies suggest that the abnormal component can bind to protein S and phospholipids. Both forms of activated protein C can also incorporate radiolabeled diisopropylfluorophosphate.     

Possibility of influencing drug release from polymers--using the example of bead polymers

By the example of the model drug phenobarbital, the authors report of the possibilities of influencing the liberation of drugs from acrylate-based bead polymers. The drug-containing bead polymers produced were studied in vitro (half-change method, beaker device according to Moldenhauer, artificial digestive juices according to Münzel, without addition of enzymes). The composition of a unit-dose preparation, composed of several batches prepared under different conditions, is dealt with. The release values obtained largely meet the requirements made on depot preparations.     

Comparison of fresh versus sodium acetate acetic acid formalin preserved stool specimens for diagnosis of intestinal protozoal infections

The use of sodium acetate acetic acid formalin (SAF)-preserved stool specimens was compared with that of nonpreserved specimens for the recovery of intestinal protozoa. A total of 247 patients, 170 with diarrhea of more than one week's duration and 77 refugees, were asked to collect a stool specimen. Each specimen was placed into two vials, one empty, the other containing SAF fixative. Laboratory investigations included microscopic examination of the concentrated sediment and direct wet smears from both types of stool specimens and the microscopic examination of a permanent stained smear from the unsedimented, SAF-preserved stool specimens. Examination of SAF-preserved stool specimens revealed intestinal protozoa in 149 of the 247 patients. With the conventional procedure using unpreserved stool specimens, intestinal protozoa were found in 89 of the 247 patients. The results show that the examination of SAF-preserved stool specimens, consisting of the microscopic examination of both the concentrated sediment and the permanent stained smear from the unsedimented material, increases the chance of recovering intestinal protozoa as compared to the conventional procedure.