Familial membranous subaortic stenosis

Familial occurrence of membranous subaortic stenosis (MSS) is described in three families. The defect was found in 2 siblings in two of these families, and in 3 siblings of the third family. The importance of early diagnosis and treatment of MSS is emphasized. We suggest early evaluation of first-degree relatives of patients with MSS for the possibility of this defect.     

The menstrual cycle and viral load

A new report has indicated that different stages of the menstrual cycle are associated with fluctuations in the amount of HIV present in genital fluids. In the study women were followed for two full menstrual cycles. Samples of cervical fluid were taken and analyzed to determine the presence of HIV RNA. The HIV viral load was variable during the cycle; the level was greatest during active menstruation, and lowest immediately following menses. In addition, HIV RNA levels were higher than blood plasma viral load two to three weeks after menses and again at menses.     

Minimising blood loss and transfusion requirements in hepatic resection

BackgroundSubstantial blood loss and the requirement for blood transfusion remain major considerations for hepatic surgeons. We analysed the impact of a systematic protocol aimed at reducing intraoperative blood loss and homologous blood (HB) transfusion associated with hepatic resection.MethodsProspective clinical data were collected from 151 elective liver resections performed during the period between 1980 and 1999. Further data directly related to blood loss and anaesthesia were retrospectively collected from the anaesthetic intra-operative record. Strategies implemented in 1991 included preoperative autologous blood donation, low central venous pressure anaesthesia, aprotinin administration, ultrasonic dissection, hepatic vascular inflow occlusion and a Cell Saver. Blood loss and transfusion requirements were studied before and after the implementation of these strategies.ResultsThere was no difference in the patient demographics, indications for operation or the scope of resections in the two time periods evaluated. Blood-saving strategies resulted in decreased estimated blood loss (4500 mL vs. 1000 mL p<0.001). In addition, the number of patients requiring transfusion decreased (91.8% vs. 25.5% respectively, p<0.001) and the mean number of units of HB transfusion was lower (I 3.7 vs. 2.3, p<0.001). Morbidity and mortality were also decreased (57.1% vs. 25.5%, p<0.001 and 10.2% and 4.9% p<0.001, respectively). No complications directly referrable to low CVP anesthesia were identified.ConclusionSystematic implementation of strategies designed to control blood loss are effective and may reduce morbidity and mortality associated with hepatic resections.     

Ultrastructural pathology of skeletal muscle in various rheumatic diseases

Seventy-three muscle biopsies from patients with various rheumatic diseases were analyzed using immunofluorescence, light, and ultrastructural microscopy. Pathologic data were correlated with clinical variables of local muscle and systemic disease. Light and immunofluorescence findings were generally normal. Ultrastructure differed from normals, showing a spectrum of nonspecific changes. There were no disease specific pathologic features. Myofibrillar damage was the most common pathologic change, with atrophy or degeneration occurring in a majority of biopsies. Semiquantitative analysis showed a general correlation between the extent of pathologic change and muscle weakness.     

Usefulness of the "OptiMAL Rapid Malaria test" for rapid detection of malaria imported to Poland

In this survey the use of OptiMAL test for rapid diagnosis of malaria was evaluated. It was proved that this test allowed to diagnose the Plasmodium sp. antigen in 72% of examined blood specimens, 82% for P. falciparum infection and 69% for P. vivax, whereas P. ovale was not detected at all. The test sensitivity depended on the parasitemia level. It showed a sensitivity of 100% for parasitemia density exceeded 1%, 95.4% with the parasitemia ranging from 0.1-0.99%. For lower parasite density, the test's sensitivity was of 32 and 60%. The OptiMAL test showed a 99.1% specificity thus it revealed to be significantly high.     

Human herpesvirus-7 infection of the CNS with acute myelitis in an adult bone marrow recipient

The beta-herpesviruses, human herpesviruses-6 and -7 (HHV-6 and HHV-7), are closely related and have very similar biological behaviour. While HHV-6 is associated with encephalitis in immunosuppressed adults, HHV-7 is not recognised as a cause of neurological disease in such patients. This report describes the identification of a reactivated HHV-7 infection in the cerebrospinal fluid of an adult who presented with an acute myelitis 11 months after unrelated donor bone marrow transplant.     

Midgestational lethality in mice lacking the parathyroid hormone (PTH)/PTH-related peptide receptor is associated with abrupt cardiomyocyte death

PTHrP is a key developmental regulatory protein and a potent vasoactive agent. Previous studies have shown that mice lacking either the Pthrp or the PTH type 1 receptor (Pth1r) gene exhibit severe chondrodysplasia. In addition, in most genetic backgrounds, the receptor null mice die prenatally at midgestation, but the cause of death remains elusive. Here we show the loss of the Pth1r gene in C57BL6 mice leads to massive, abrupt cardiomyocyte death and embryonic lethality between embryonic days (E) E11.5 and E12.5. PTH1R mRNA was abundantly expressed in the developing wild-type mouse heart and cardiomyocytes from E11.5 embryos demonstrated acute increases in cAMP and increased Ca(2+)oscillations in response to PTHrP-(1-34)NH(2). Analyses of more than 300 embryos (E8-E14.5) from C57BL6/PTH1R +/- matings showed that PTH1R-/- mice survived until E11 with no obvious defects in any tissue. By E12, only 10% of the PTH1R-/- embryos survived and all PTH1R null mice were dead by E13. Ultrastructural and histological analysis revealed striking mitochondrial abnormalities at E11.5 and precipitous cardiomyocyte death between E12.0 and E12.5, followed by degenerative changes in the liver and massive necrosis of other tissues. No abnormalities were observed in the yolk sac or placenta implicating the heart degeneration as the primary cause of death. Taken together, these findings indicate that the PTH1R is required for the development of normal cardiomyocyte function.     

Prolonged pyrexia and lung metastases. A rare presentation of an occult epithelioid sarcoma

A 31-year-old patient presenting with fever of unknown origin, night sweats and weight loss, associated later with pulmonary nodules, is described. Multiple invasive diagnostic procedures, including exploratory laparotomy and open-lung biopsy, suggested a benign inflammatory granulomatous disease. Metastatic epithelioid sarcoma was ultimately diagnosed after biopsy of an enlarging groin mass. Epithelioid sarcoma should be considered in the differential diagnosis of prolonged fever, associated with granulomas of obscure etiology.