Search PubMed⌕ Search

Biomedical subjects

W Rabl

Publications and source records attributed to W Rabl.

At least 19 recordsLinked to original sources

Fatal intoxication with omethoate.

A case of suicide with the insecticide omethoate is reported. An 18-year-old apprentice gardener had ingested an unknown amount of omethoate. His body was found in his room lying in the storage space under his bed. The autopsy first showed multiple superficial incisions in the skin of his wrists, furthermore hemorrhagic pulmonary oedema, dilation of the right cardiac ventricle and oedema of the brain. The gastric mucosa was swollen and showed a dark brownish colour. An intensive, chemical-like smell rose from the corpse and organs. Toxicological analysis detected omethoate in cardiac blood (208 micro g/ml), urine (225 micro g/ml) and bile (524 micro g/ml), in the liver (341 micro g/ml) and kidneys (505 micro g/ml). In the gastric content the level was 48223 micro g/ml. The amount of the active AChE in peripheral blood serum was reduced to less than 0.2% of the normal level. To our knowledge no case of a fatal suicide by ingestion of omethoate has been reported in literature.

Acetylcholinesterase↗

Network of vascular-associated dendritic cells in intima of healthy young individuals.

In earlier studies, our group has established a new "immunological" hypothesis for atherogenesis supported by experimental and clinical studies showing that inflammatory immunological reactions against heat shock protein 60 initiate the development of atherosclerosis. In the present study, we describe the discovery of a so-far-unknown network of dendritic cells in the innermost layer of arteries, the intima, but not veins of healthy humans and rabbits. The number of these dendritic cells is comparable to that of Langerhans cells in the skin, and dendritic cells show a similar phenotype (CD1a(+) S-100(+) lag(+) CD31(-) CD83(-) CD86(-) and no staining for von Willebrand factor or smooth muscle cell myosin). These vascular-associated dendritic cells accumulate most densely in those arterial regions that are subjected to major hemodynamic stress by turbulent flow conditions and are known to be predisposed for the later development of atherosclerosis. These results open new perspectives for the activation of the immune system within the arterial wall.

Adolescent↗

Hyperinsulinism in syndromal disorders.

UNLABELLED: Analysis of a German database comprising a total of 54 patients with neonatal manifestations of persistent hyperinsulinism revealed 5 patients in whom hyperinsulinism was associated with additional clinical symptoms, suggesting an underlying syndromal disorder. Three of the patients presented with a similar yet unknown clinical entity characterized by severe psychomotor retardation, chronic pulmonary disease, hypothyroidism and congenital heart defects. A fourth patient was affected by severe congenital central hypoventilation syndrome. The fifth patient presented with Beckwith-Wiedemann syndrome, with unusually severe and persistent hyperinsulinism requiring subtotal pancreatectomy. CONCLUSION: Our results indicate that, in addition to the well-known biochemical pathways, more complex pathophysiological mechanisms can result in persistent hyperinsulinism that presents clinically with a disease involving multiple organs.

Female↗

[Multiple organ failure following inhalation of butane gas: a case report].

Most cases of acute poisoning by butane and other volatile compounds occur in young people as a consequence of substance abuse by inhalation. Clinical symptoms are caused by asphyxia and mainly affect the cardiovascular, respiratory and central nervous system. There are also reported deaths from intoxication of butane inhalation, mostly by cardiac arrhythmia. We report the case of a healthy 14 year-old boy who inhaled butane gas from an aerosol can for refilling cigarette lighters. Despite successful resuscitation and defibrillation, he died two days later from multiple organ failure involving the central nervous system, cardiovascular system, pulmonary system and the liver. Although such incidents are rare in middle European countries, emergency and intensive care medicine staff should be instructed on the consequences and management of butane gas poisoning.

Adolescent↗

[SIDS prevention program in Tyrol].

In April 1994, an intervention campaign to reduce the incidence of sudden infant death syndrome (SIDS) was established in the Tyrol. The campaign was intended to increase knowledge concerning risk factors for SIDS in the general community and to improve individual care for infants at risk. In contrast to interventional programmes in other federal states of Austria (i.e. Vorarlberg, Styria), this programme did not utilise polysomnography for identifying infants at risk. A part of the intervention programme was the "Styrian risk questionnaire", a standardised questionnaire concerning risk factors for SIDS. Individual instructions for health care of children at risk (risk score > or = 7) were provided and, if necessary, subscription of home monitoring was performed at the out-patient department (SIDS out-patient service) of the Department of Paediatrics in Innsbruck and other paediatric departments throughout the Tyrol. The educational programme also included information concerning basic life support. Psychological support was offered to parents of SIDS infants. Risk factors for SIDS in the Tyrol before the campaign were assessed in a retrospective case-control study (time period 1984-1994; 99 SIDS infants, 136 controls). The risk of SIDS was markedly reduced when parents had detailed knowledge of the risk factors of SIDS (odds ratio (OR) 0.03; p < 0.001), which emphasises the importance of information and educational programmes. The incidence of SIDS declined after the beginning of the intervention campaign from 1.83/1000 live births (average incidence from 1984-1994) to 0.4/1000 live births and remained at this level thereafter. Post-neonatal mortality also declined from 3.9 to 1.3/1000 live births. The prevalence of the prone sleeping position declined immediately after the campaign (53.7% vs. 5.4%, p < 0.001), as did the frequency of maternal smoking during pregnancy (22.9% vs. 14.5%, p < 0.01). Breast feeding became more popular. In all, the low-cost intervention programme in the Tyrol proved to be highly efficient in reducing the risk of SIDS and in maintaining this effect for several years.

Adult↗

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well. Patients with TRMA often respond to treatment with pharmacological doses of thiamine. Recently, mutations were found in patients with TRMA in a thiamine transporter gene (SLC19A2). We here describe the mutations found in eight additional families. We found four novel mutations and three that were previously described. Of the novel ones, one is a nonsense mutation in exon 1 (E65X), two are missense mutations in exon 2 (S142F, D93H), and another is a mutation in the splicing donor site at the 5' end of intron 4 (C1223+1G>A). We also summarize the state of knowledge on all mutations found to date in TRMA patients. SLC19A2 is the first thiamine transporter gene to be described in humans. Reviewing the location and effect of the disease causing mutations can shed light on the way the protein functions and suggest ways to continue its investigation.

Alleles↗

Increased frequency of thorax injuries with ACD-CPR.

A prospective, randomised out-of-hospital study in a two-tiered system with active compression-decompression (ACD) cardiopulmonary resuscitation (CPR) versus standard (STD) CPR in patients following non-traumatic cardiac arrest was planned to test the hypothesis that ACD-CPR by the first tier may increase the occurrence of ventricular fibrillation as compared with STD-CPR. Furthermore, in a later phase of the study, sternal and rib fractures induced by both CPR methods were determined by extensive autopsy. After enrolling 90 patients the study was terminated because of a high frequency of chest injuries found at autopsy. Forty-two patients received STD-CPR from the first tier and ACD-CPR from the second tier. Thirty-three patients received ACD-CPR only by the first and the second tier, while 15 patients received STD-CPR only from the first and second tiers. In order to obtain a sufficiently large control group for autopsy findings after STD-CPR, STD-CPR was performed in an additional 33 patients within a second period of 4 months. There was no improvement in the number of patients found in ventricular fibrillation after ACD-CPR as compared to STD-CPR performed by the first tier. In patients undergoing autopsy (n = 35) there were significantly more sternal fractures with ACD-CPR versus STD-CPR (14/15 vs. 6/20; P <0.005) and rib fractures (13/15 vs. 11/20; P < 0.05) In conclusion, ACD-CPR appears to cause more CPR-related injuries than does standard CPR, but as a result of a number of limitations on this study, this fact cannot be proven beyond doubt.

Aged↗

Chest injuries after active compression-decompression cardiopulmonary resuscitation (ACD-CPR) in cadavers.

In a prospective study of 38 cadavers of patients older than 18 without previous chest injury or cardiopulmonary resuscitation (CPR), active compression-decompression (ACD) resuscitation manoeuvres were performed to determine possible factors influencing sternal and/or rib fractures. ACD was performed for 60 s, with compression and decompression forces being continuously recorded. A stepwise logistic regression analysis was applied. Factors analyzed were age, gender, use of a compression cushion beneath the piston of the ACD device (Ambu CardioPump), and maximal compression and decompression forces. After ACD, the cadavers were autopsied and thoracic injuries were assessed. There was a significant correlation between sternal fractures and gender (P = 0.008), and between rib fractures and age (P = 0.008). Women were found to have a higher risk for sternal fractures, whereas older patients had a higher risk for rib fractures. Maximal compression force was another factor in sternal and/or rib fracture (P = 0.048). Even though a significantly higher incidence of sternal fractures was observed when the compression cushion was used (P = 0.045), inclusion of this variable in the regression analysis only marginally improved the prediction for correct classification of sternal fractures. In conclusion, when well controlled ACD-CPR is performed in cadavers, age is the most important factor determining the incidence of rib fracture. Sternal fractures were more common in female cadavers.

Age Factors↗

Pulmonary Aspergillus colonization in humans and its impact on management of critically ill patients.

Samples of lung tissues were obtained and analysed for Aspergillus carriage in 56 patients undergoing thoracic surgical intervention and 18 people who had an unexpected death. Out of 74 samples, 46 (63%) had evidence of pulmonary fungal colonization. The surgery population had a rate of 62% of fungal growth. Aspergillus was present in 39%. The autopsy population had a rate of 61% of fungal colonization. Aspergillus was present in 41%. In these cases eradication of fungal spores residing in the lung prior to aggressive chemotherapy and prevention of further spore uptake during hospitalization is indispensable in preventing pulmonary aspergillosis.

Aspergillosis↗

Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement.

Fetal male sexual differentiation is driven by two testicular hormones: testosterone (synthesized by interstitial Leydig cells) and antimüllerian hormone (AMH; produced by Sertoli cells present in the seminiferous tubules). Intersex states result either from gonadal dysgenesis, in which both Leydig and Sertoli cell populations are affected, or from impaired secretion or action of either testosterone or AMH. Until now, only Leydig cell function has been assessed in children with ambiguous genitalia, by means of testosterone assay. To determine whether serum AMH would help in the diagnosis of intersex conditions, we assayed serum AMH levels in 107 patients with ambiguous genitalia of various etiologies. In XY patients, AMH was low when the intersex condition was caused by abnormal testicular determination (including pure and partial gonadal dysgenesis) but was normal or elevated in patients with impaired testosterone secretion, whereas serum testosterone was low in both groups. AMH was also elevated during the first year of life and at puberty in intersex states caused by androgen insensitivity. In 46,XX patients with a normal male phenotype or ambiguous genitalia, in whom the diagnosis of female pseudohermaphroditism had been excluded, serum AMH levels higher than 75 pmol/L were indicative of the presence of testicular tissue and correlated with the mass of functional testicular parenchyma. In conclusion, serum AMH determination is a powerful tool to assess Sertoli cell function in children with intersex states, and it helps to distinguish between defects of male sexual differentiation caused by abnormal testicular determination and those resulting from isolated impairment of testosterone secretion or action.

Adult↗

Delay of type I diabetes in high risk, first degree relatives by parenteral antigen administration: the Schwabing Insulin Prophylaxis Pilot Trial.

The Schwabing Insulin Prophylaxis Trial is a randomised, controlled pilot study designed to examine whether insulin therapy can delay or prevent the clinical onset of Type I diabetes in high risk first degree relatives of people with the disease. First degree relatives of patients with Type I diabetes, who were aged 4 years or more, had an islet cell antibody (ICA) value more than 20 Juvenile Diabetes Foundation Units (JDF-U), a reduced first phase insulin response (FPI) to an i.v. glucose tolerance test less than the 5th centile, and a normal oral glucose tolerance test were eligible for the trial. Between January 1989 and October 1995, 1736 relatives of patients with Type I diabetes were screened for ICA. We identified 64 cases (3.7%) with ICA values more than 20 JDF-U. Of ICA positive relatives, 17 (27%) had a low FPI and were eligible for enrolment. Of these 14 agreed to participate, of whom 7 were randomised to the treatment group and 7 to the control group. In the treatment group, human insulin was administered i.v. by continuous infusion for 7 days, followed by daily s. c. injections for 6 months. Intravenous insulin infusions were repeated every 12 months. In the treatment group 3 of the 7 individuals (follow-up from time of eligibility: 2.3 to 7.1 years) and in the control group 6 of the 7 untreated individuals (1.7 to 7.1 years) developed clinical diabetes. Life table analysis showed that clinical onset of Type I diabetes was delayed in insulin-treated subjects compared with control subjects (means+/-SEM diabetes-free survival: 5.0+/-0.9 years vs 2.3+/-0.7 years, p < 0.03). Insulin levels after i.v. glucose increased in the first year of intervention therapy. Titres of ICA, and antibodies to glutamic acid decarboxylase, and tyrosine phosphatase-like protein IA2 remained unchanged. These data suggest that insulin prophylaxis can delay the onset of overt diabetes in high risk relatives. This is encouraging in view of 1) the continuing American Diabetes Prevention Trial, which is currently testing the effect of parenteral insulin in a large nation-wide study and 2) the initiation of pilot trials to determine whether new antigen-specific intervention is more effective in delaying the clinical onset of Type I diabetes.

Adolescent↗

Metal pins fired from unmodified blank cartridge guns and very small calibre weapons--technical and wound ballistic aspects.

Blank cartridge guns are generally regarded as being harmless and are not considered to be firearms in most countries. A comparison of the legal situations in Germany and Austria concerning weapons is given. There have been several reports of serious injuries and even fatalities due to these weapons. Ballistic experiments show that even unmodified blank cartridge guns and very small calibre weapons can fire wire nails and can inflict potentially fatal injuries even at distances of 50 cm. Two serious injuries inflicted by metal pins fired from a blank cartridge gun and a very small calibre weapon are reported. These cases suggest that such weapons should also be considered handguns in the legal sense.

Aged↗

Ballistic aspects of tandem-loaded cartridges of identical caliber.

Tandem loading of a cartridge of the same caliber is possible only if the diameter of the barrel is sufficiently wide. This requirement is met by the .22 long shot Anschütz miniature clay pigeon gun. Ballistic experiments with tandem-loaded cartridges of the same caliber as those loaded in the normal way showed the bullet of the regularly loaded cartridge to impact the muzzle-loaded cartridge. On firing a shot, the bullet of the posterior cartridge penetrates the anterior one, expanding the case of the first cartridge to the diameter of the barrel and disintegrating the bullet. Regardless of whether the muzzle-loaded cartridge is ignited or not, the discharge speed of the projectiles (v0) is considerably below that of single shots. Calculations yielded a theoretical reduction by about 60%. In accordance with the formula E=1/2*m*v2, in terms of the energy released, the elevated mass of the projectile is of secondary importance compared with the reduction of v0. Although the "projectile" mass is more than twice the normal rate, the energy density is significantly reduced and the biological effect is attenuated. This also became apparent in the failed suicide attempt of a 43-year-old male who used a miniature clay pigeon gun to shoot himself in the forehead at a range of a few centimeters. He had inserted a second cartridge, base to head with the first cartridge, in the factory-bored barrel of the gun. The leading cartridge was destroyed by the regularly loaded one. The pierced and expanded case of the leading cartridge was found nearby the injured man and was at first taken to be the jacket of a larger-caliber bullet.

Adult↗

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy. Mitochondrial DNA deletions have been described in a few patients and a locus has been mapped to 4p16 by linkage analysis. Susceptibility to psychiatric illness is reported to be high in affected individuals and increased in heterozygous carriers in Wolfram syndrome families. We screened four candidate genes in a refined critical linkage interval covered by an unfinished genomic sequence of 600 kb. One of these genes, subsequently named wolframin, codes for a predicted transmembrane protein which was expressed in various tissues, including brain and pancreas, and carried loss-of-function mutations in both alleles in Wolfram syndrome patients.

Adolescent↗

A previously unrecognized site of local accumulation of mononuclear cells. The vascular-associated lymphoid tissue.

In recent years our laboratory has developed an immunological hypothesis for the pathogenesis of atherosclerosis. We have shown that cellular and humoral immune reactions against heat shock proteins (Hsps) 60/65 expressed on the surface of stressed endothelial cells comprise the initial event in the pathogenesis of this disease. In the course of these studies, we also investigated normal, unaffected arteries for control purposes (carotid bifurcations from children aged 8 weeks to 10 years). This investigation led to the unexpected and previously unknown finding that mononuclear cells pre-exist in the intima at bifurcation sites. Our findings can be summarized as follows: Mononuclear cells are always found in the intima, primarily at sites subjected to major hemodynamic stress. Although the proportion of macrophages vs CD3(+) T-cells differs, overall the latter clearly predominate. Most of the T-cells express the T-cell receptor (TCR)alpha/beta, but TCRgamma/delta cells are also present. We also identified dendritic cells and mast cells in the intima. Analogous to the mucosa-associated lymphoid tissue (MALT) we coined the designation "vascular-associated lymphoid tissue" (VALT) for these newly discovered cellular aggregates in the arterial intima.

Antigens, CD↗

Review of active compression-decompression cardiopulmonary resuscitation (ACD-CPR). Analysis of iatrogenic complications and their biomechanical explanation.

Our review takes a critical look at the active compression-decompression technique (ACD) for cardiopulmonary resuscitation (CPR). ACD-CPR was developed following a report of successful resuscitation performed by a medical amateur using a household plunger. The efficacy of the principle of active decompression has been demonstrated by animal and human studies. Potential iatrogenic complications from the CardioPump were evaluated only when large clinical trials were already underway. Our prospective analysis of autopsy patients and systematic randomised studies in corpses prove that ACD-CPR using the CardioPump considerably increases the rate of iatrogenic complications and especially of sternum fractures. The experimental use of the CardioPump in corpses and the analysis of a variety of different parameters, especially of the rubber cushion pads mounted in the silicone cup to prevent skin abrasions, revealed a statistically significant correlation between sternum fractures and female sex (P < 0.01) and usage of the rubber cushion pad (P = 0.045). Biomechanical studies showed that the transmission of forces from the CardioPump is greatly dependent on chest shape. The lower the sternum is sunken compared with the surrounding structures, the higher the force which is transmitted via the central area of the device onto the sternum. The rubber cushion pad shortens the distance between CardioPump and sternum by 5 mm and therefore increases the sternal loading. Sex differences in the shape of the sternum and especially the thickness may account for the significant correlation between sternum fractures and female sex.

Animals↗

Camphor ingestion for abortion (case report).

The case of a 16-year-old girl who ingested 30 g of camphor dissolved with 250 ml wine to induce abortion is reported. The girl started vomiting 45 min after ingestion, which may have saved her life. Camphor is present in a number of over-the-counter medications, mainly for external application, and is readily available in drugstores. The substance is highly toxic and rapid in onset. The reported human lethal dose is 50 to 500 mg kg-1. Camphor ingestion may lead to abortion because camphor crosses the placenta and fetuses lack the enzymes to hydroxylate and conjugate with glucuronic acid. The girl was charged with intended abortion.

Abortion, Illegal↗