Fatal familial insomnia: a new Austrian family.
We present clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia. Detailed clinical data are available in five patients and autopsy in four patients. Age at onset of disease ranged between 20 and 60 years, and disease duration between 8 and 20 months. Severe loss of weight was an early symptom in all five patients. Four patients developed insomnia and/or autonomic dysfunction, and all five patients developed motor abnormalities. Analysis of the prion protein (PrP) gene revealed the codon 178 point mutation and methionine homozygosity at position 129. In all brains, neuropathology showed widespread cortical astrogliosis, widespread brainstem nuclei and tract degeneration, and olivary 'pseudohypertrophy' with vacuolated neurons, in addition to neuropathological features described previously, such as thalamic and olivary degeneration. Western blotting of one brain and immunocytochemistry in four brains revealed quantitative and regional dissociation between PrP(res)(the protease resistant form of PrP) deposition and histopathology. In the cerebellar cortex of one patient, PrP(res) deposits were prominent in the molecular layer and displayed a peculiar patchy and strip-like pattern with perpendicular orientation to the surface. In another patient, a single vacuolated neuron in the inferior olivary nuclei contained prominent intravacuolar granular PrP(res) deposits, resembling changes of brainstem neurons in bovine spongiform encephalopathy. (+info)
The natural course of hepatitis C virus infection 18 years after an epidemic outbreak of non-A, non-B hepatitis in a plasmapheresis centre.
BACKGROUND: The natural history of hepatitis C virus (HCV) infection is variable and factors determining the course of the illness are unclear. AIMS: To determine the natural course of HCV infection in a well characterised group of patients 18 years after an epidemic outbreak of non-A, non-B hepatitis at a plasmapheresis centre. METHODS: Between 1994 and 1996, 20 of 30 affected individuals were studied. HCV infection was confirmed using second and third generation ELISA test kits. HCV RNA was detected by a polymerase chain reaction (PCR) method and HCV genotyping was performed by analysing amplicons from the conserved 5'-non-translated region generated by nested PCR. Thirty two liver biopsies were carried out in 14 patients. RESULTS: HCV antibodies were detected in all subjects. Eighteen patients had abnormal liver enzymes and 17 were HCV RNA positive, all of whom were infected with genotype 1a. Ninety per cent of this cohort showed evidence of chronic HCV infection with 50% having progressive liver disease and 20% cirrhosis 18 years after acute onset of non-A, non-B hepatitis. Considerable variation in disease outcome occurred between individuals and no correlation with clinical features of the acute illness was found. CONCLUSIONS: Variability in the consequences of HCV infection in cases infected with the same virus suggests that host factors are important in determining disease outcome. The factors which determine differences in the natural history of the disease still remain to be elucidated. (+info)
The efforts of WHO and Pugwash to eliminate chemical and biological weapons--a memoir.
The World Health Organization and the Pugwash Conferences on Science and World Affairs (Nobel Peace Prize 1995) have been involved in questions concerning chemical and biological arms since the early 1950s. This memoir reviews a number of milestones in the efforts of these organizations to achieve the elimination of these weapons through international treaties effectively monitored and enforced for adherence to their provisions. It also highlights a number of outstanding personalities who were involved in the efforts to establish and implement the two major treaties now in effect, the Biological Weapons Convention of 1972 and the Chemical Weapons Convention of 1993. (+info)
Living at high altitude and risk of sudden infant death syndrome.
OBJECTIVE: To investigate the association between altitude of residence and risk of sudden infant death syndrome (SIDS). METHODS: A retrospective, case control study in the Tyrol, Austria enrolled 99 infants with SIDS occurring between 1984 and 1994, and 136 randomly selected control cases. Data on pregnancy, delivery, child care practice, and socio-demographic characteristics including altitude of residence were collected with a standardised questionnaire. RESULTS: The risk of SIDS increased gradually with increasing altitude of residence. This relation remained independently significant when the analysis was adjusted for gestational age, birth weight, prenatal care, mother's age at delivery, educational level of parents, and cigarette smoking during pregnancy. The prone sleeping position emerged as an obligatory cofactor in this association. In the whole of Austria, a similar trend of association emerged between the average altitudes in the 99 political counties and the rates of SIDS. CONCLUSIONS: This study identified altitude of residence as a significant risk predictor of SIDS, primarily in combination with the prone sleeping position. Respiratory disturbances, reduced oxygen saturation, and lower temperatures at high altitude might explain this association. (+info)
beta-2 Adrenergic receptor variants affect resting blood pressure and agonist-induced vasodilation in young adult Caucasians.
Recent evidence suggests that the prodownregulatory Gly16 allele of the beta-2 adrenergic receptor (beta-2 AR) is associated with essential hypertension in African Caribbeans. To further investigate the effect of the glycine (Gly)16 and arginine (Arg)16 beta-2 AR variants on hemodynamics, we investigated the agonist-mediated in vivo vasodilation in normotensive Austrian Caucasians and analyzed the results with respect to the Gly16/Arg16 polymorphism. Fifty-seven normotensive men, 20 to 32 years of age with body mass index of 18.7 to 29.9 kg/m2, were genotyped for the Arg16/Gly16 beta-2 AR alleles. All 15 Gly16/Gly16 subjects, all 12 Arg16/Arg/16 subjects, and 27 of 30 heterozygous subjects underwent hemodynamic measurements while supine after an overnight fast. The observers were unaware of the subjects' genotypes. The subjects received a graded infusion of the selective beta-2 AR agonist salbutamol (0.07, 0.14, and 0.21 microgram/kg per minute, respectively), each dose over 8 minutes. Stroke volume and blood pressure were determined continuously by means of impedance cardiography and oscillometry, respectively. The last 4 minutes of each infusion were evaluated statistically. Basal mean blood pressure was higher in the Gly16/Gly16 subjects compared with Arg16/Arg16 subjects (mean+/-SD: 81.6+/-6.14 versus 75.2+/-4.93 mm Hg, P<0.01). Homozygous Gly16 subjects showed a significantly decreased vasodilation during the first dose of salbutamol infusion compared with Arg16/Arg16 subjects (Deltatotal peripheral resistance index -17.9+/-14.4 versus -30. 6+/-8.3%, P<0.01) despite increased sympathetic counterregulation in the Arg16/Arg16 group (Deltaheart rate +16.9+/-7.0% versus +8.6+/-7. 0%, P<0.01; Deltacardiac index +39.5+/-18.5% versus 21.4+/-18.8%, P<0.05). Our results provide additional evidence that the Gly16/Arg16 alleles of the beta-2 AR are intimately related to blood pressure regulation and deserve further studies in the pathogenesis of essential hypertension. (+info)
Comparative susceptibility to penicillin and quinolones of 1385 Streptococcus pneumoniae isolates. Austrian Bacterial Surveillance Network.
Antibiotic resistance among Streptococcus pneumoniae isolates has spread rapidly throughout the world since the first description of a strain with diminished susceptibility to penicillin in Australia in 1967. A total of 1385 strains of S. pneumoniae, collected in several centres throughout Austria, were assessed for their sensitivity to moxifloxacin, trovafloxacin, ciprofloxacin, ofloxacin, levofloxacin and lomefloxacin. The MICs were determined using the agar dilution method, according to NCCLS guidelines. Both moxlfloxacin and trovafloxacin showed good anti-pneumococcal activity in terms of MIC50 (both 0.125 mg/L) and MIC90 (both 0.25 mg/L). Less active, but with similar activity to each other, were ciprofloxacin and levofloxacin, each with an MIC50 of 1 mg/L and an MIC90 of 2 mg/L. Ofloxacin showed only moderate activity (MIC50, 1 mg/L; MIC90, 2 mg/L) and lomefloxacin was the least active compound (MIC50, 4 mg/L; MIC90, 8 mg/L). Both moxifloxacin and trovafloxacin at a concentration of < or = 0.5 mg/L inhibited all of the S. pneumoniae strains tested. (+info)
Psychotherapeutic counseling and pregnancy rates in in vitro fertilization.
PURPOSE: Since the Austrian propagation bill of July 1, 1992, was passed into law, Austrian physicians are committed to offer psychological counseling to women before performing assisted reproductive techniques, unless refused by the patient. The acceptance of psychotherapeutic counseling (PSITCO) and its influence on pregnancy rate were carefully reviewed. METHODS: The study comprised 1156 consecutive patients (mean age, 33.3 years) and 1736 in vitro fertilization (IVF) cycles. In a consent form for follicle puncture, the patients were interviewed about PSITCO as follows. Several methods of psychological support during IVF-embryo transfer treatment were offered to patients especially psychotherapy, hypnotherapy, and relaxation and physical perception exercises. RESULTS: Forty-two and three-tenths percent of patients rejected PSITCO, 17.8% had already received PSITCO, and 10.4% were willing to undergo PSITCO. The acceptance of PSITCO had no relevance on pregnancy rate. The cumulative calculation of pregnancy rates showed that up to 56.4% of women who had undergone PSITCO conceived. In patients who were planning to undergo PSITCO, the pregnancy rate was 41.9%. Concerning the cumulative pregnancy rate, this study showed that patients who accepted or underwent PSITCO had a higher pregnancy rate than those who did not avail themselves of this possibility. CONCLUSIONS: These results should encourage sterility specialists to consider psychological therapy as an essential aspect of IVF. Solely a written declaration of the patient stating his/her awareness of the possibility to undergo PSITCO is, in our opinion, insufficient. (+info)
Agrococcus citreus sp. nov., isolated from a medieval wall painting of the chapel of Castle Herberstein (Austria).
A bacterial strain, D-1/1aT, isolated from a medieval wall painting of the chapel of Herberstein (Styria, Austria) was characterized by a polyphasic approach. Strain D-1/1aT shared 98.1% 16S rRNA sequence similarity to Agrococcus jenensis. The chemotaxonomic characteristics including polar lipid pattern, whole cell sugars, quinone system, polyamine pattern, cell wall composition and fatty acid profile were in good agreement with those of Agrococcus jenensis. The G+C content of the DNA was determined to be 74 mol%. The value of 47% DNA reassociation obtained after DNA-DNA hybridization between DNA of Agrococcus jenensis and strain D-1/1aT as well as differences in the amino acid composition of the peptidoglycan and in physiological characteristics demonstrate that the isolate represents a new species of the genus Agrococcus. The name Agrococcus citreus sp. nov. is proposed for the new species harbouring isolate D-1/1aT. The type strain is DSM 12453T. (+info)