Clinical Neuroscience

[Application of robot hand technique in the course of microneurosurgical operations]

CSÓKAY András, VALÁLIK István, JOBBÁGY Ákos

JANUARY 20, 2009

Clinical Neuroscience - 2009;62(01-02)

[Introduction - The aim of this study was to determine whether the new robot hand technique can help to avoid the complication in the course of high precise microneurosurgical operations. Methods - The physical efficacy was measured by tremorometry. The comperative study of the incidence of complications measured the clinical efficacy. Results - The tremors of the operating hand and the number of complications have decreased effectively. Conclusion - The precise level of robots could be available by novel robot hand technique. By this technique the microsurgical work has become more effective.]

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[The authors discuss the clinical and molecular genetic aspects of genetically determined neuromuscular disorders of some Roma families living in Hungary. Among the autosomal recessively inherited spinal muscular atrophic (SMA) group, 8 Caucasian children had the typical 7-8 exonal deletions of the SMA gene, but only 2 patients belonged to the Roma population. There was no difference in the molecular genetic findings among the Caucasian and the Roma SMA patients. All of them had 7- 8 exonal deletions of the SMA gene. We wanted to call attention to the founder mutation of the Roma population in 7 patients suffering from congenital myasthenia (CMS) from 3 Roma families. The 1267G deletion for CMS was detected by molecular genetic method. Clinical onset was pubertal and relatively slow progression of specific and phenotypic features for this founder mutation of acetyl-cholin receptor epsylon gene. In 2 patients (sister and brother) the sarcoglycanopathy 2C type C283Q mutation was proven in one Roma family suffering from limb-girdle muscular dystrophy (LGMD). Two out of the three facioscapular-humeral dystrophy (FSHD) Roma families carried 21.8 kb and 18.5 kb alleles in FSHD A1 gene (D4S139). In one family together with prenatal diagnosis founder mutation in FSHD A1 gene was detected, according to the autosomal dominant (AD) inheritence. In (F2) prenatal diagnosis was carried out, 18.5 kb/18.5 kb homozygosity was proven in the fetus, so the pregnancy was interrupted. In the CMS, LGMD and FSHD Roma patients ancient typical Roma founder mutations were found.]

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Clinical Neuroscience

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Clinical Neuroscience

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