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Biomedical subjects

K Busse

Publications and source records attributed to K Busse.

At least 19 recordsLinked to original sources

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents' blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.

Adult↗

An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD).

We present a case of an adult male patient showing clinical, neurophysiological and histological signs consistent with the phenotype of facioscapulohumeral muscular dystrophy. On molecular testing with a 4q35-DNA-probe p13E-11 (D4F104S1), the patient, his clinically unaffected mother and two sisters shared a 4q35-EcoRI-DNA-fragment of 35 kb on the transition between FSHD1A-associated and polymorphic fragments. Explanatory hypotheses, such as reduced penetrance in females or a phenotype unlinked to the 4q35-locus are considered. Alternatively, additional changes in the unidentified FSHD1A gene could have caused the phenotype. Thus, in such rare cases, the diagnostic evidence of 4q35-EcoRI-fragments is still limited.

Adult↗

Tumor induction and prophylaxis following different forms of intestinal urinary diversion in a rat model.

Eighty Wistar rats were randomized into two groups. In group 1 vesicosigmoidostomy with proximal colostomy was performed, in group 2, vesicosigmoidostomy. The total tumor incidence did not significantly (group 1 10/40, 25%; group 2 13/40, 32.5%). The tumor spectrum differed, with more adenocarcinomas in group 2 (11/40, 27.5% vs 4/40, 10%; P = 0.047) and urothelial carcinomas only in group 1 (5/40, 2.5%). One hundred and ten other Wistar rats were randomized into three groups. Animals in group A received vesicoileosigmoidostomy, group B, two-step vesicosigmoidostomy with initial separation of urine and the urocolonic anastomosis, group C, vesicosigmoidostomy. Significantly fewer adenocarcinomas were observed in group A (2/40, 5%) than in group B (16/40, 40%; P < 0.002) and group C (9/30, 30%; P < 0.007). These results indicate a similar cancer risk in all continent forms of urinary diversion, at least via colon. Ileal interposition seems to be an effective carcinoma prophylaxis following ureterosigmoidostomy. The proliferative instability at the urointestinal anastomosis is crucial for the pathogenesis and prophylaxis of this form of carcinogenesis, whereas urine seems to play only a minor role.

Adenocarcinoma↗

Visual perception of area and hypnotic susceptibility.

The visual perception of area of geometrical figures was compared for subjects of high and low hypnotizability in experiments with direct comparison of two different geometrical figures. The Stanford Hypnotic Susceptibility Scale (Form C) was used to assess subjects' hypnotizability. No differences between 17 highly hypnotizable and 10 low hypnotizable subjects were found. Present results were also compared with those previously obtained for subjects of unknown hypnotizability. The model based on the Image Function Theory proposed earlier to explain the errors in area estimation committed by subjects of unknown hypnotizability was confirmed as a general rule.

Adult↗

Changes in electromyographically recorded human monosynaptic reflex in relation to hypnotic susceptibility and hypnosis.

The aim of the present experiment was to study how hypnotic susceptibility and hypnosis affect motoneuron excitability. In a first trial, human subjects were selected according to their hypnotic susceptibility. In a second trial, the Hoffmann (H) reflex amplitude of the soleus muscle was studied in 3 groups: (1) highly susceptible subjects during hypnosis with standardized suggestions of simple relaxation, anesthesia, analgesia and paralysis (group I), (2) highly susceptible subjects (group II), and (3) non-susceptible subjects (group III) during long-lasting control conditions. Surface Ag/AgCl electrodes were used to stimulate the posterior tibial nerve using a constant current stimulator and to record the soleus EMG. Analysis of variance was performed on the data. The linear correlation coefficient within groups was evaluated. The H reflex amplitude decreased significantly during the recording session in groups I and II and there was no change in group III. In group I the effect of different suggestions could not be distinguished from the effect of hypnotic relaxation. The decrements in H amplitude did not differ between groups I and II, suggesting that the effect was related to personality traits rather than hypnotic induction.

Electric Stimulation↗

[Clinical use of sodium hypochlorite for local treatment and prevention of urinary tract infections and therapy of contracted bladders (author's transl)].

A stable commercial electrolytic sodium hypochlorite solution was tested in 63 urologic patients. The complete germicidal action against all sorts of bacteria was shown in suspension-tests. Irrigation studies of the infected bladder were performed. It was found that continued bladder irrigations were necessary to stop bacterial ascension from the infected urethra. Bladder capacity was increased in 6 of 8 patients with nonmalignant contracted bladder or interstitial cystitis. Desinfection with sodium hypochlorite in urologic practice is cheap, easy to perform and diminishes the risk of hospitalism. Clinical studies confirmed the absence of general or local toxicity.

Acids↗

[Cortical blindness following arteria vertebralis angiography (author's transl)].

Six patients suffered from cortical blindness following vertebral artery angiography. A connection of the incident with the technical procedure or a particularly great amount of applied contrast material, could not be seen. Vasospasm, stasis of contrast material in the arteria calcarina and a toxic lesion seem possible explanations, because the cortical blindness was fully reversible in all cases within some hours or days. Signs for an arterial embolisation did not exist, a finding, which is consistent with the literature.

Adolescent↗