Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.     

Ultrastructural identification of cells with dendritic cell appearance in atherosclerotic aorta of apolipoprotein E deficient mice

The present electron microscopic study was undertaken to see whether cells with a dendritic cell appearance accumulate in atherosclerotic lesions of apolipoprotein E (apoE) deficient mice. Atherosclerotic aortas from 7 eight-month old apoE deficient mice were examined. In atherosclerotic plaques as well as in the underlying media and adventitia, cells with a dendritic cell appearance including the presence of a unique tubulovesicular system were detected. The tubulovesicular system was most hypertrophied in their cellular processes where the continuous cisterns sometimes formed circular structures. The cells containing the tubulovesicular system lacked lysosomes and phagolysosomes and their cytoplasm was free of lipid inclusions. The present observations suggest that dendritic cells are involved in apoE deficient mouse atherosclerosis. ApoE deficient mice might be a useful model for investigating functions of dendritic cells in atherogenesis.     

A case of cytomegalic disease of the newborn]

A generalized form of cytomegalic disease in newborns is relatively rare. According to the author's data, only one case of cytomegalia was observed during post-mortem investigations of 1724 newborns and young children. This was a full-term child which was born with jaundice, generalized petechial rash and hepatosplenomegaly. Histological investigations revealed cytomegalic cells in the lungs, liver, kidneys and parotid salivary glands; in the brain there was noted calcification of the walls of the lateral ventricles. In the stroma of organs lymphoid infiltration with proliferation of histiocytes was observed.     

Optimization of anesthesiological management of the delivery in women with moderate and high myopia

Eye fundus, functional state of retina, intraocular pressure, central hemodynamics and cerebral circulation were examined in 290 patients with moderate or severe myopia and in 25 healthy women during pregnancy, in parturition period and after labors. 255 labors were conducted by way of natural maternal passages under prolonged epidural anesthesia at the first and second stages of labor. Epidural anesthesia was accompanied by decreasing vasoconstriction and both cerebral and ocular circulation improvement. There was no any progress in myopia in a year after delivery. The labor by way of normal maternal passages were proved to be carried out under epidural anesthesia in patient with moderate and severe myopia.     

Clinical picture of awakening after general anesthesia with midazolam, propofol, ketamine and fluothane in children treated at one-day ambulatory facility

The study was carried out in 75 children aged 6-12 years with the physical status ASA I. The operations were performed on the lymphadenoid throat ring in a one-day setting. Awakening after anesthesia was evaluated by the following parameters: time between the end of intervention and extubation of the trachea, opening the eyes when asked, transportation from the operation room into the ward, and first dialogue with the doctor. A system of evaluating the level of recovery of respiration, motor activity, and consciousness by Aldret and Kroulik's score was used for objective assessment of the data. Postoperative pain and discomfort were evaluated using Hannallah's score in all age groups. The most rapid recovery of muscle tone, defense reflexes, and higher functions of the brain was observed in the patients anesthesized with propofol; adequate doses of narcotic analgetics during short-term interventions ensured satisfactory analgesia and psychological condition during the immediate postoperative period.     

Recurrence rate of atrial flutter after initial presentation in patients on drug treatment

Atrial flutter (AFl) recurrence after initial in-patient presentation, cardioversion, and drug treatment is almost universal, often leading to rehospitalization and risk of serious clinical consequences. Radiofrequency ablation of AFl, which has an excellent safety record, should be evaluated as a first-line approach for most patients with AFl.