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S Vohánka

Publications and source records attributed to S Vohánka.

13 recordsLinked to original sources
PubMed2003

[Disorders of laminins in diseases of myocardial and skeletal muscles].

UNLABELLED: The Emery-Dreifuss muscular dystrophy is caused by muscular lesions and disorders of cardial rhythm and/or by cardiomyopathy. An autosomal dominant form is related to mutations of genes, which are coding for lamins A/C. GROUP AND METHODS: In the group A the authors examined 37 patients with the diagnosis of dilatation cardiomyopathy (DKMP) and the mean ejection fraction 28.4; 8.8%. In the group B of 13 patients a cardiac stimulator was implanted for a rhythm disorder. Both groups were subjected to cardiological, neurological, clinical and electromyographic (EMG) examinations. A muscle biopsy from m. vastus lateralis was made and the sample was evaluated by histology, histochemistry and immunohistochemistry. The coding sequences of genes for lamins were amplified by polymerase chain reaction and the products were analyzed by the DHPLC method (denaturing higher performance liquid chromatography). RESULTS: In the group A there was a clinically myopathic picture in three patients, while EMG examination revealed a myogenic finding in 12 patients and a marginally myogenic one in five patients. The histological finding in 12 patients was evaluated as myogenic and marginally myogenic in six. In one patient the mutation analysis revealed mutation in the gene for lamin A/C. A myogenic finding in this patient was determined by EMG as well as by histological examination and the autosomal dominant form of the Emery-Dreifuss muscular dystrophy was therefore diagnosed. In the group B one patient displayed a myopathic neurological finding and a myogenic finding during EMG. A subsequent mutation analysis revealed a mutation in the gene for lamin A/C. The case was therefore the autosomal dominant form of the Emery-Dreifuss muscular dystrophy. In the other patients the clinically marginal myopathic finding was observed once, a marginally myogenic finding during EMG was seen five times, histology and immunochemistry revealed a myogenic finding once and a marginally myogenic finding also once. The other findings were within normal range. CONCLUSIONS: A careful neurological examination including EMG determined symptoms of skeletal muscle myopathies in a surprisingly high percentage of our cardiological patients. This observation draws attention to the need of neurological examination in patients with DKMP in order to discovered disorder in this area in time. In two patients mutations in genes coding lamins A/C were detected. It would be useful to analyze also genes coding for other cytoskeletal proteins in the future.

Adult↗
PubMed2001

[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].

Complex diagnosis of muscular dystrophies including clinical, bioptical and molecular genetic approaches has been provided in a limited extent in this country. Our group of neurologists, pathologists and geneticists has examined approximately 240 patients suspected of having muscular dystrophies, mostly coming from Southern and Northern Moravia. The patients were sent to the examination most often from departments of neurology and clinical genetics, and less frequently from departments of internal medicine. According to the final diagnosis, the patients were divided into groups: with dystrophinopathies and carriers of dystrophinopathies (DMD/BMD), merosin deficient form of congenital muscular dystrophy, and Emery-Dreifuss muscular dystrophy including the carriers of this disease. Some relatives of patients with dystrophinopathies were also examined using the methods of segregation analysis. High proportion of the DMD/BMD patients can be detected by the methods of molecular genetics. Analysis of mRNA using RT PCR and PTT enables the detection of deletions, duplications, and point mutations in dystrophin gene and encompasses a larger diagnostic scope in comparison with examinations of DNA level by the multiplex PCR method from the peripheral blood which enables only deletion detections. Immunophenotyping of the dystrophin protein plays an important role especially using antibodies against carboxyterminal (DYS2) and rod domain (DYS1) of dystrophin. Deficient sarcolemmal expression of DYS2 and DYS1 reveals unambiguously a pathological dystrophin. On the other hand, less pronounced deficiencies in dystrophin expression in BMD patients and DMD/BMD carriers may not always be detected in muscle biopsies. In this case, it is necessary to supplement the examination by Western blotting and genotype analysis. The examination of patients with clinically diagnosed muscular dystrophy should start with a muscle biopsy which enables the estimation of presence and degree of structural changes. Application of antibodies against the components of DGC and emerin may reveal a deficiency in expression of these proteins. Immunohistochemical examination completed by Western blotting leads to the subsequent molecular genetic analysis of DNA or mRNA. Secondary deficiencies in expression of other DGC proteins are often revealed in muscle biopsies of dystrophinopathies and this fact must be taken into account in the evaluation of immunohistochemical findings. There is a possibility of replacement of invasive muscle biopsy by skin biopsy or buccal mucosal smears in cases of merosin and emerin deficiencies. Commercially available antibodies against merosin, emerin, calpain and sarcoglycans enable extensive identification and detailed classification of muscular dystrophies. Screening of the patients based on the application of methods described and discussed in this report is the task of the forthcoming period.

Adolescent↗
PubMed2000

Conservative treatment versus surgery in spondylotic cervical myelopathy: a prospective randomised study.

A prospective randomised 2-year study was performed to compare the conservative and operative treatment of mild and moderate forms of spondylotic cervical myelopathy (SCM). Forty-eight patients presenting with the clinical syndrome of SCM, with a modified Japanese Orthopaedic Association (mJOA) score of 12 points or more, were randomised into two groups. Group A, treated conservatively, consisted of 27 patients, mean age 55.6 +/- 8.6 years, while group B was treated surgically (21 patients, mean age 52.7 +/- 8.1 years). The clinical outcome was measured by the mJOA score, recovery rate (RR), timed 10 m walk, score of daily activities (recorded by video and evaluated by two observers blinded to the therapy), and by the subjective assessment of the patients at 6, 12, and 24 months of the follow-up. There was, on average, no significant deterioration in mJOA score, recovery ratio, or timed 10 m walk within either group during the 2 years of follow-up. In the surgery group there was a slight decline in the scores for daily activities and subjective evaluation. A comparison of the two groups showed no significant differences in changes over time in mJOA score or quantified gait, but there were significant differences in the score of daily activities recorded by video at 24 months, which was a little lower in the surgical group, and also in RR and subjective evaluation, which were both worse in the surgical group at months 12 and 24. However, at month 6, this last parameter was significantly better in the surgical than in conservative group. Surgical treatment of mild and moderate forms of SCM in the present study design, comprising the patients with no or very slow, insidious progression and a relatively long duration of symptoms, did not show better results than conservative treatment over the 2-year follow-up.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed1999

The value of somatosensory- and motor-evoked potentials in predicting and monitoring the effect of therapy in spondylotic cervical myelopathy. Prospective randomized study.

STUDY DESIGN: A 2-year follow-up prospective randomized electrophysiologic and clinical study of patients with spondylotic cervical myelopathy. OBJECTIVE: To assess the value of somatosensory- and motor-evoked potentials in the evaluation and prediction of the effect of therapy. SUMMARY OF BACKGROUND DATA: Previous studies have yielded conflicting data concerning the correlation between the changes in evoked potential parameters and the clinical postsurgical outcome in spondylotic cervical myelopathy. METHODS: Sixty-one patients with magnetic resonance images suggesting spondylotic cervical cord compression and clinical signs of cervical myelopathy were divided into two groups according to the degree of clinical cervical cord involvement. The 49 patients with mild and moderate spondylotic cervical myelopathy were randomized into groups that underwent either surgical or conservative therapy. Patients were evaluated clinically and by the means of somatosensory- and motor-evoked potentials. RESULTS: The clinical and evoked potential changes showed good correlation on the group level, but poor correlation intraindividually. There were no significant evoked potential and clinical group changes after 6 months and 2 years in the mild myelopathy group treated either surgically and conservatively, whereas patients with severe myelopathy displayed significant improvement in clinical and evoked potential parameters after surgery. In a subgroup of patients, the isolated segmental medullar N13 abnormality could potentially predict favorable postsurgical clinical outcome. CONCLUSIONS: Longitudinal evoked potentials showed limited use for evaluating the results of therapy in an individual patient. They could be useful in the group assessment of therapy results and in labeling a subgroup of patients with potentially favorable postsurgical outcome.

Cervical Vertebrae↗
PubMed1999

Median nerve mononeuropathy in spondylotic cervical myelopathy: double crush syndrome?

We studied the association between spondylotic cervical myelopathy (SCM) and median nerve mononeuropathy (MNM) and examined the validity of the double-crush hypothesis. Sixty consecutive patients with clinically overt spondylotic cervical myelopathy were examined by means of nerve conduction studies, electromyography, and median nerve somatosensory evoked potentials; the frequency of the electrophysiological signs of focal MNM at the wrist was compared with that of a control group comprising 100 sex- and age-matched patients. Electrophysiological signs of MNM were found in 20 myelopathic patients (33%) in comparison with an 11% prevalence in the control group (P<0.05). The signs of motor anterior horn cell lesion at the C8-Th1 level and concomitant motor axonal MNM ipsilaterally were found in three hands, while the signs of sensory axonal loss at C6-7 segments due to ganglionic or postganglionic sensory lesion outside the wrist and concomitant sensory axonal MNM were present in one hand. While demonstrating a statistically significant association between SCM and MNM, we found no evidence of an etiological relationship between these two conditions. Electrophysiological signs of MNM fail anatomical (segmental level and side) and pathophysiological (axonal type of lesion) requirements of the double-crush hypothesis in most of patients with concomitant SCM and MNM.

Adult↗
PubMed1998

The value of somatosensory and motor evoked evoked potentials in pre-clinical spondylotic cervical cord compression.

Previous studies have yielded conflicting data concerning the value of evoked potential parameters in the assessment of clinical relevance of cervical cord compression in clinically "silent" cases. The aim of this study was to assess the value of somatosensory (SEP) and motor evoked potentials (MEP) in the evaluation and prediction of the clinical course, by means of a 2-year follow-up prospective electrophysiological and clinical study performed in patients with clinically "silent" spondylotic cervical cord compression. Thirty patients with MR signs of spondylotic cervical cord compression but without clinical signs of myelopathy were evaluated clinically and using SEPs and MEPs during a 2-year period. The results of the study showed that SEPs and MEPs documented subclinical involvement of cervical cord in 50% of patients with clinically "silent" spondylotic cervical cord compression. During the 2-year period clinical signs of cervical myelopathy were observed in one-third of patients with entry EP abnormality in comparison with no patients with normal EP tests. Combined SEPs and MEPs proved to be a valuable tool in the assessment of the functional relevance of subclinical spondylotic cervical cord compression. Normal EP findings predict a favourable 2-year clinical outcome.

Case-Control Studies↗
PubMed1996

[Surgical treatment of cervical spondylotic myelopathy in the Czech and Slovak Republic in 1994].

The authors investigated the state of surgery on account of cervical spondylosis and in particular spondylogenic cervical myelopathy in the Czech and Slovak Republic in 1994. They assessed the number of operated patients, surgical methods, indication criteria and the diagnostic strategy of different departments. The total number of patients operated on account of cervical spondylosis in 1994 was 347, incl. 113 on account of cervical spondylogenic myelopathy. As to surgical techniques in the majority the anterior approach was selected (Smith-Robinson's method). Laminectomy was performed in 14 and laminoplasty in 22 cases. The number of operated patients is, as compared with the frequency of similar operations in the United States, six times lower. As all departments where enquiries were made operate every cervical compression regardless of the degree of functional deficiency, this may reflect inadequate diagnosis of the disease.

Cervical Vertebrae↗
PubMed1995

[Postpoliomyelitis syndrome and progressive postpoliomyelitis muscular atrophy].

New complaints of patients after poliomyelitis following after decades of a stabilized condition are described by the term postpoliomyelitic syndrome (PPS). They affect at least half the patients after poliomyelitis. The best defined picture from a broad spectrum of new complaints is so-called progressive postpoliomyelitic atrophy (PPMA). The authors review contemporary knowledge of the etiopathogenesis of PPS and PPMA and their possible therapy.

Humans↗
PubMed1992

Neurophysiological evaluation of disorders and procedures affecting the spinal cord and the cauda equina.

Neurophysiological tests that asses afferent or efferent pathways of the spinal cord and of nerve roots are used for clinical diagnosis, intraoperative monitoring, and judgement of prognosis. Most tests can readily be performed in awake subjects, whereas many difficulties arise in anesthetized patients in whom neurophysiological testing is the only way of monitoring functional integrity of neural tissue. The research, therefore, that has been carried out in this field during the past year is of special interest.

Cauda Equina↗
PubMed1991

[Somatosensory evoked potentials in the acute phase of focal cerebral ischemia].

The authors made 38 examinations of the somatosensory evoked potentials of the median nerve (SEP) in 28 patients in the acute stage of focal cerebral ischaemia (20 men, 8 women mean age 62 years; range 28-81). According to the clinical and CT picture the patients were divided into two groups: affections in the carotid vessels (22 patients) and in the vertebrobasilar vessels (6 patients). The investigated parameters comprised the so-called central conduction time (interval N13-N19) and amplitude N19/P22. The highest incidence of abnormalities was in the group of vertebrobasilar ischaemias (83%), while in the group of ischamias in the carotid vessels it amounted only to 50%. In both the central conduction time as well as amplitude N19/P22 were effected. In the group of focal ischaemias the authors did not find a close correlation between the carotid circulation and the sensory deficit, but recorded a correlation between the affection of SEP and the resultant condition: in patients without SEP abnormalities complete restoration of the condition predominated (63%), while in the group with pathological findings during the SEP examination complete restoration was recorded only in 9%. Repeated (dynamic) evaluations and the relationship between the ischaemic focus and the somatosensory pathway are important.

Acute Disease↗
PubMed1990

Benign posttraumatic encephalopathy.

Twenty-eight post-injury states were assessed in 27 children (in one child two attacks occurred) aged 1-9 years. The states could be classed as so called benign posttraumatic encephalopathy. The mild head injury was followed after a latent period (proved in 22 attacks) of 5 min. to 14 hours by transient brain disorder (in 17 cases quantitative, qualitative and combined alteration in consciousness, in 7 children cortical blindness, in 2 epileptic seizure and in two brain stem disturbance). The duration of symptoms lasted 5 minutes to 48 hours. After recovery the children had no difficulties; the mean of follow-up was 3.3 years. The EEG showed predominantly a normal picture or only abnormal background activity of bioccipital slow waves. In the history and clinical picture we found after the attack most often perinatal abnormality and minimal brain dysfunction (15x, 57%) and various forms of migraine (4x, 16%). It indicates that in the pathogenesis of benign posttraumatic encephalopathy apparently an important part is played by pretraumatic cerebral affection.

Attention Deficit Disorder with Hyperactivity↗
PubMed1988

Transient global amnesia after mild head injury in childhood.

In seven entirely healthy children in the age group of 6.5 to 14.5 years, mild head injury produced transient global amnesia (TGA) of median duration of 4.5 hours. None of the patients had convincing signs of brain concussion or clinical focal symptomatology. In four cases CT examination of the brain showed normal findings. Four children had a transient abnormal EEG (intermittent delta rhythms, slowed background activity inconstant local finding (of slow waves). During the period monitored (2-34 months) there was no recurrent attack and the children have had no difficulties. Pathologically, the authors assume ischemia of temporobasal structures induced by mild trauma with a relationship to migraine diathesis and rank the child group among so called benign posttraumatic encephalopathy with a noncomplicated course and good outcome.

Adolescent↗