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Biomedical subjects

W Rabl

Publications and source records attributed to W Rabl.

At least 37 records · Page 2Linked to original sources
PubMed1997

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↗
PubMed1997

[Alström syndrome--a rare disease of diabetic association].

BACKGROUND: Alström's disease is a rare hereditary multiple-system illness, whereas a second-messenger defect can be assumed. CASE REPORT: We describe a case-the first in Germany of 15 known cases in the world literature-, who suffers from all clinical features, such as non-insulin-dependent diabetes mellitus, retinitis pigmentosa, pancochlear damage of the ears, hypogonadism, obesity and chronic nephropathy, with the exception of acanthosis nigricans. CONCLUSION: Because of the multiplicity of affected organs the diagnosis of Alström's disease is difficult.

Adult↗
PubMed1997

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.

Because Wolfram (or DIDMOAD) syndrome is supposed to be a mitochondrial (mt)-mediated disease, we investigated a group of eight DIDMOAD patients with respect to point mutations of the mtDNA thus far described as being associated with defined mitochondrial disorders such as MELAS, MERRF, and LHON. Furthermore, to screen DIDMOAD patients for other mtDNA defects we used Southern blot analysis to detect mtDNA length mutations and rearrangements as well as PCR-SSCP and direct sequencing to screen all ND genes (complex I of the respiratory chain), the 22 tRNAs, and a part of the cyt b gene for unknown mutations. As a disease control group, 17 LHON patients (harboring one of the primary LHON mutations) were included in this study because of the overlapping clinical symptoms (optic atrophy) in both syndromes. We compared mtDNA variants identified in DIDMOAD patients with those found in LHON patients as well as in a control group consisting of 67 healthy German blood donors. In total, the control group was characterized by 29 polymorphic sites in ND and tRNA genes that define certain major Caucasian haplotypes. We found that a cluster of nucleotide exchanges at nucleotide positions (nps) 4216 and 11,251 roughly discriminates controls (12/67 controls, 18%) from the disease groups (6/8 DIDMOAD patients, 75%; 10/17 LHON patients, 59%). All 4216-positive LHON patients (10 patients) were concentrated in a haplogroup defined by additional exchanges at nps 10,398, 12,612, and 13,708 (haplogroup A), while the bulk of 4216-positive DIDMOAD patients (5 patients) were found in a distinct haplogroup consisting of nucleotide exchanges at nps 4917, 10,463, 13,368, 14,233, and 15,928. The frequencies of both haplogroups were significantly lower in the control group versus the respective disease groups. A more detailed analysis was performed by sequencing the two hypervariable regions of the non-coding D-loop region from patients and controls and corroborated the ranging in the two major haplogroups. Thus, the different clinical features of the mitochondrial disease groups investigated here corresponded to different clusters of mtDNA variants, which might act as predisposing haplotypes, increasing the risk for disease.

Adult↗
PubMed1997

Active compression-decompression resuscitation: the influence of different chest geometries on the force transmission.

Active compression-decompression cardiopulmonary resuscitation (ACD-CPR) is performed using a plunger-like suction device applied onto the chest. Forces are partly transferred through the center of this device as well as through the peripheral ring of the plunger's lip seal. We analysed the load transmission distribution of the Ambu CardioPump; therefore a homemade mechanical model was used for simulating different chest geometries. We applied compression forces up to 750N on the device using a 'material testing machine', and we determined the load transferred through the central part of the device and the peripheral ring respectively. The results show that the deeper the sternum is inbeded in the chest the more force is distributed onto the peripheral ring of the plunger's vacuum cup. For a simulated flat chest, 70 N was transferred through the peripheral ring; at a simulated sternal depression of 20 mm, more than 300 N were transferred peripherally. This study points out that different chest geometries have to be considered when using CardioPump.

Cardiopulmonary Resuscitation↗
PubMed1996

The contribution of anulus fibers to torque resistance.

STUDY DESIGN: Anulus fibers of the intervertebral disc oriented in one direction were dissected, and oppositely directed fibers were left intact as a result of a newly developed dissection method. Motion segments were dissected by this way, and motion segments after bilateral facetectomy were loaded in torsion and compared with each other. OBJECTIVES: To assess the contribution of facets and anulus fibers to torque resistance. SUMMARY OF BACKGROUND DATA: Mathematical models predict that torsional stress is transmitted only to those collagene fibers of the anulus that are angled in the direction of the applied torque. Torsion and forward bending or torsion and compression are likely to cause anulus damage. No experimental study that we are aware of has confirmed that anulus fibers are the main structure to resist against torque. METHODS: Pure axial rotation moments were applied on 12 lumbar motion segments. The six components of motion were recorded. Six motion segments were investigated intact after dissection of anulus fibers directed in one direction and after additional bilateral facetectomy. In six motion segments, bilateral facetectomy was performed before anulus dissection. RESULTS: With the application of an axial rotation moment of 8.5 Nm to the left, axial rotation increased 2 degrees after dissection of disc fibers in one direction, and 1.2 degrees after bilateral facetectomy (P = 0.002). In the opposite direction, there were no differences. After both injuries, axial rotation was 7.6 degrees to the left (direction of fiber dissection) and -3.3 degrees to the right (P = 0.0005). CONCLUSION: In lumbar motion segments without degeneration, anulus fibers restrict axial rotation more than the facets.

Adult↗
PubMed1996

Biomechanical properties of the human tibia: fracture behavior and morphology.

Standardized biomechanical dynamic load tests were performed to obtain fundamental information on the fracture behavior and morphology of the human tibia. After preparation, the specimens (n = 32) were loaded to breakage by ventral (one side alternately), dorsal, medial or lateral loading on a servo-hydraulic testing machine (Walter und Bai, Löhningen, Switzerland). Primary and secondary fracture lines and fissures were marked differently on the three surfaces of the tibia specimens. They were then videoscanned and digitized on a flatbed scanner to give two-dimensional fracture-line images. Load limits were 2475 to 12,206 Newton. The study revealed both direct fracture patterns with the fracture lines originating from the opposite site of impact, and indirect fracture patterns originating from the distal third of the specimens. Direct fractures occurred in 46% of the specimens after ventral loading, in 80% after medial or lateral loading, and in 100% after dorsal loading. Ventral, medial or lateral loading frequently produced direct wedge fractures of the Messerer type. Dorsal loading resulted in different direct patterns characterized by transverse fractures with longitudinal fissures at the impact site of the loading stamp. Direct transverse fractures also often showed a wedge-shaped pattern due to additional fissures. These were, however, identifiable only after maceration of the specimens and should receive closer attention in forensic practice.

Adolescent↗
PubMed1996

Rotation cryotomy: medical and scientific value of a new serial sectioning procedure.

Preparation of thin serial sections for comparative macromorphologic investigations has always represented a grave technical problem, especially in the case of regions in which bone as well as soft tissue are to be documented within their natural relations to each other in any desired sectional plane. Non-decalcified specimens up to the size of a whole cadaver are embedded in physiologic medium, precisely positioned, and deep-frozen to a specimen-ice block. A newly developed device, working on the basis of blades rotating at high speed, allows quick, successive removal of sections from the surface of the specimen block, with a thickness of each section infinitely variable between 0.1 and 5 mm. Following each cut, the new surface of the block can be documented photographically or on videotape for macromorphologic evaluation. So far more than 1,000 human, animal, and botanical specimens have been sectioned and evaluated with this method. In none of the cases were specimens damaged. Furthermore, any desired sectional plane could be adjusted: consequently a definite correlation between these sections and previous sonography, magnetic resonance (MR), or computed tomography (CT) images could be established. As serial cryosectioning becomes available to a far wider circle of medical and natural scientists, high-quality results should be obtained at lower costs.

Adult↗
PubMed1996

Serious complications from active compression-decompression cardiopulmonary resuscitation.

Complications arising from techniques of cardiopulmonary resuscitation (CPR) were reviewed by analysing the autopsy protocols of 25 patients who died after standard (Std) CPR and 31 who died after active compression-decompression (ACD) CPR, 15 of them preceded by Std CPR. The results can be summarised as follows: After Std CPR (n = 25) rib fractures were detected in 28%, sternal fractures in 16%, and no injuries in 68%. After ACD-CPR (n = 16) rib fractures occurred in 68%, sternal fractures in 68% and no injuries in 25%. After ACD-CPR following Std CPR(n = 15) rib fractures were detected in 93%, sternal fractures in 93%, and no patients were without thoracic fracture. In two patients severe cardiac injuries occurred clearly attributable to CPR. In conclusion cardiopulmonary resuscitation by the ACD-technique caused rib and sternal fractures more often than Std CPR and has a higher risk for iatrogenic cardiac and possible fatal injury.

Adolescent↗
PubMed1996

Fatal posture- and heroin-related intestinal infarction and leg muscle necrosis after snorting heroin. A case report.

We present a case of a male patient who spent several hours sitting with legs crossed and upper body bent forward after nasal insufflation of heroin (snorting). Death occurred 3 days later as a result of leg muscle necrosis and intestinal ileus with infarction. The autopsy findings, including microthrombi in small mesenteric vessels and necrosis of the leg muscles, were attributed to vascular compression due to the man's position and to metabolic processes resulting from drug ingestion.

Administration, Intranasal↗
PubMed1996

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

Familial persistent hyperinsulinemic hypoglycemia of infancy is a disorder of glucose homeostasis and is characterized by unregulated insulin secretion and profound hypoglycemia. Loss-of-function mutations in the second nucleotide-binding fold of the sulfonylurea receptor, a subunit of the pancreatic-islet beta-cell ATP-dependent potassium channel, has been demonstrated to be causative for persistent hyperinsulinemic hypoglycemia of infancy. We now describe three additional mutations in the first nucleotide-binding fold of the sulfonylurea-receptor gene. One point mutation disrupts the highly conserved Walker A motif of the first nucleotide-binding-fold region. The other two mutations occur in noncoding sequences required for RNA processing and are predicted to disrupt the normal splicing pathway of the sulfonylurea-receptor mRNA precursor. These data suggest that both nucleotide-binding-fold regions of the sulfonylurea receptor are required for normal regulation of beta-cell ATP-dependent potassium channel activity and insulin secretion.

ATP-Binding Cassette Transporters↗
PubMed1995

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families. Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.

ATP-Binding Cassette Transporters↗
PubMed1995

Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

Familial male precocious puberty (FMPP) is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. A heterozygous mutation encoding substitution of Asp578 with Gly in transmembrane helix 6 of the G protein-coupled receptor for luteinizing hormone (LHR) has been found in affected males from nine American FMPP families. Cells expressing the mutant LHR exhibit markedly increased cyclic adenosine monophosphate (cAMP) production in the absence of agonist, suggesting that autonomous Leydig cell activity in FMPP is caused by a constitutively activated LHR. We have now analyzed genomic DNA from affected males from six additional FMPP families. PCR was used to amplify a fragment of the LHR gene encoding amino acid residues 441-594. None of the six new samples contained the Asp578-->Gly mutation, as indicated by absence of digestion with MspI. PCR products were then screened for heterozygous mutations using temperature-gradient gel electrophoresis. DNA fragments from two of the patients migrated abnormally. Direct sequencing of PCR product from one affected German male revealed a heterozygous mutation (ATG-->ATA) encoding Met571-->Ile at the cytoplasmic end of helix 6, the same mutation that has been reported in another European FMPP kindred. Affected males in the second family had a novel Thr577-->Ile mutation (ACC-->ATC). Mutations in different portions of the LHR or in a different gene may be responsible for disease in the other FMPP kindreds. Agonist binding and functional coupling of the mutant receptors to the cAMP and inositol phosphate pathways were studied by transiently expressing them in COS-7 cells. Agonist affinity was unaffected by the mutations.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1995

Iatrogenic ruptures of the stomach after balloon tamponade. Two case reports: viscoelastic model.

Two cases of gastric rupture as a rare complication of balloon tamponade for esophageal varices are presented. In both cases, the rupture was caused by instillation of irrigation fluid without previous aspiration of stomach contents. In an experimental study, the stomachs of 11 corpses were filled with water to determine rupture pressure and volume. The mean rupture pressure was 73 +/- 13 mm Hg (9.7 +/- 1.7 kPa) and the mean rupture volume was 2,670 +/- 410 ml. A viscoelastic model was used for the representation of the relations between pressure and volume as well as pressure and time. Measured values are significant particularly for the explanation and medicolegal evaluation of iatrogenic ruptures of the stomach that occur during gastric lavage, positive pressure respiration, incorrect intubation, or forced mask respiration during resuscitation.

Adult↗
PubMed1995

[Dental prosthesis--residual alcohol content?].

The possible influence of complete or partial dental prosthesis when detecting breath alcohol by means of the breath alcohol analyser "Alcomat" was investigated in a study. During the study, volunteers were asked to rinse their mouths with different types of alcohol such as beer, wine, schnapps and sweets containing alcohol. No influence of the dental prosthesis on the results could be detected. A dental prosthesis neither prolongs the duration of residual alcohol detection, nor does it affect the period of false positive breath alcohol detection. In individual cases the waiting period of 15 minutes between the last alcohol consumption and the breath alcohol test--as legally enforced in Austria--has proved to be too short.

Alcohol Drinking↗