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J Finsterer

Publications and source records attributed to J Finsterer.

At least 37 records · Page 2Linked to original sources
PubMed2001

Possible causes of symptoms in suspected coronary heart disease but normal angiograms.

BACKGROUND: In patients with suspected coronary heart disease and normal angiography, the causes of cardiac symptoms frequently remain undetermined. A correct diagnosis is desirable, however, since some of the underlying disorders may be curable, treatable, influence prognosis, or induce screening of the relatives. HYPOTHESIS: In such patients, the prevalence of arterial hypertension, hemochromatosis, hypothyroidism, hypoparathyroidism, tachycardiomyopathy, amyloidosis, and neuromuscular disorders as a possible cause for their symptoms and the seroprevalence of micro-organisms, known to cause myocardial damage, were assessed. METHODS: Consecutive patients with normal coronary angiograms were invited for two visits comprising clinical history and investigation, electrocardiograms, blood tests, and echocardiography. Patients were investigated neurologically if unexplained anginal chest pain or creatine kinase elevation persisted or if echocardiography showed isolated left ventricular abnormal trabeculations. RESULTS: In 71 patients (31 women, 40 men, mean age 60 years), the most common cause for cardiac symptoms was hypertension (66%), followed by neuromuscular disorders (13%), tachycardiomyopathy (9%), hypothyroidism (4%), and hemochromatosis (3%). The seroprevalence for Chlamydia species was 90%, Helicobacter pylori 70%, Chlamydia pneumoniae 63%, Borrelia burgdorferi sensu lato 15%, and Rickettsia conorii 10%. No possible cause was found in 24% of the patients. CONCLUSIONS: In patients with suspected coronary heart disease and normal angiograms, hypertension, neuromuscular disorders, tachycardiomyopathy, hypothyroidism, and hemochromatosis should be considered as possible causes.

Adult↗
PubMed2001

Left ventricular hypertrabeculation in myotonic dystrophy type 1.

BACKGROUND: Left ventricular hypertrabeculation (LVHT) has not been described in myotonic dystrophy Type I (MD1) before. CASE REPORT: A 42-year-old man developed typical features of MD1 since 1992. Creatinekinase was slightly, but recurrently elevated. Needle electromyograms were myogenic and showed extensive spontaneous activity. Muscle biopsy was compatible with MDI. DNA analysis revealed a heterozygous 300 CTG-repeat expansion in the myotonic-dystrophy proteinkinase gene on chromosome 19q13.3. Cardiac history and clinical cardiologic examination were normal. On ECG, ST elevation and atrial flutter were found. The AECG was normal except for atrial flutter. Surprisingly, transthoracic echocardiography revealed LVHT, previously described only in Becker's muscular dystrophy, mitochondriopathies, and Barth syndrome. CONCLUSION: A rare cardiac manifestation of MD1 may be LVHT which alone has no therapeutic implication.

Adult↗
PubMed2001

Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophy.

BACKGROUND: Left ventricular hypertrabeculation is frequently associated with neuromuscular disorders. Whether left ventricular hypertrabeculation in these patients is congenital or develops during lifetime, is unknown. CASE REPORT: In a 65-year-old man with Becker's muscular dystrophy, due to a duplication in the dystrophin gene on chromosome Xq21 (dystrophin molecular weight: 500 kD), left ventricular hypertrabeculation was detected on transthoracic echocardiography although being absent in repeated previous echocardiographic examinations. Additionally, there was thickening of the left ventricular myocardium. The spontaneous occurrence of left ventricular hypertrabeculation was interpreted as progression of cardiac involvement in Becker's muscular dystrophy. CONCLUSION: Left ventricular hypertrabeculation may not exclusively be congenital, but may occasionally develop spontaneously during lifetime, being interpreted as progression of cardiac involvement in Becker's muscular dystrophy.

Aged↗
PubMed2001

Parkinson's disease associated with impaired oxidative phosphorylation.

Parkinson's disease may be due to primary or secondary oxidative phosphorylation (OXPHOS) defects. In a 76-year-old man with Parkinson's disease since 1992, slightly but recurrently elevated creatine phosphokinase, recurrently elevated blood glucose, thickening of the left ventricular myocardium, bifascicular block and hypacusis were found. Cerebral MRI showed atrophy, periventricular demyelination, multiple, disseminated, supra- and infratentorial lacunas, and haemosiderin deposits in both posterior horns. Muscle biopsy showed typical features of an OXPHOS defect. Whether the association of Parkinson's disease and impaired OXPHOS was causative or coincidental remains unknown. Possibly, the mitochondrial defect acted as an additional risk factor for Parkinson's disease or the OXPHOS defect worsened the preexisting neurological impairments by a cumulative or synergistic mechanism. In conclusion, this case shows that Parkinson's disease may be associated with a mitochondrially or nuclearly encoded OXPHOS defect, manifesting as hypacusis, myopathy, axonal polyneuropathy, cardiomyopathy and recurrent subclinical ischaemic strokes and haemorrhages.

Aged↗
PubMed2001

Resolution of an aortic thrombus under anticoagulant therapy.

In a 50-year-old woman, admitted because of a renal infarction, a 10-cm long floating, highly mobile thrombus with a diameter of 15-20 mm in the descending aorta was detected by transoesophageal echocardiography and magnetic resonance imaging. She was a poor surgical candidate due to obstructive lung disease and obesity. Under intravenous heparinization with prothrombin time test values between 80 and 100 s, followed by oral anticoagulation with international normalized ratio values between 3.0 and 4.0, the thrombus resolved after 10 weeks and no recurrence occurred over the next 30 months.

Administration, Oral↗
PubMed2001

EMG-interference pattern analysis.

The EMG interference pattern, built up of single motor unit action potentials, may be analyzed subjectively, or objectively by computer aided, quantitative methods, like counting of zero-crossings, counting of spikes, amplitude measurements, integration of the area under the curve, decomposition techniques, power spectrum analysis and turn/amplitude analysis. Since the shape of the interference pattern of healthy muscles is dependent on age, sex, force, muscle, temperature, fatigue, fitness level, recording site and surrounding tissue, electrode type, sensitivity, filters, sampling frequency and threshold level, all methods of analyzing the IP have to be standardized. Quantitative methods of analyzing the EMG interference pattern may be used for monitoring botulinum toxin therapy of dystonia and spasticity, quantifying spontaneous activity, assessment of chronic muscle pain, neuro-urological and proctological function, and diagnosing neuromuscular disorders. For diagnostic purposes, the methods favored are those that use needle electrodes and do not require measurement or monitoring of muscle force. The most well-evaluated methods are those using turn/amplitude analysis, like the cloud methods and the peak-ratio analysis. Peak-ratio analysis has the advantage that reference limits are easy to obtain and that its utility is well established and confirmed by several investigations. Overall, automatic methods of EMG interference pattern analysis are powerful tools for diagnostic and non-diagnostic purposes.

Adult↗
PubMed2001

Concentric-needle versus macro EMG. II. Detection of neuromuscular disorders.

OBJECTIVE: Little is known about the relation and sensitivity of macro-EMG (MA-EMG) compared with concentric-needle EMG (CN-EMG) in the detection of neuromuscular disorders. METHODS: CN-EMGs and MA-EMGs were recorded from the right brachial biceps muscle of 40 healthy subjects, aged 17-83 years, 20 patients with neurogenic disorders, aged 25-75 years, and 20 patients with myopathy, aged 18-76 years. Motor unit action potentials (MUAPs) were examined. RESULTS: In patients with neurogenic disorders CN-MUAP duration, CN-MUAP amplitude, percent polyphasia, MA-MUAP amplitude, MA-MUAP area and fibre density were significantly increased. In patients with myopathy, only fibre density was significantly increased. In patients with neurogenic disorders, the sensitivity of CN-EMG was 80%, and that of MA-EMG 85%. In myopathies, the sensitivity was 50% for each technique. Pooling the results of both EMG techniques, the sensitivity increased to 90% in patients with neurogenic disorders, and to 65% in myogenic disease. CONCLUSIONS: MA-EMG has a similar sensitivity in the detection of neuromuscular disorders as CN-EMG. Particularly when myopathy is suspected, both techniques should be applied if one is unrevealing.

Action Potentials↗
PubMed2001

Phenotype variability in 130 adult patients with respiratory chain disorders.

Despite continuously improving diagnostic facilities, respiratory chain disorders (RCDs) are easily overlooked or misdiagnosed. We thus studied phenotype variability and the diagnostic potential of clinical and laboratory investigations in patients with RCD. We retrospectively evaluated clinical and laboratory investigations in 130 patients with RCD: 63 women and 67 men, aged 17-87 years, diagnosed between January 1992 and December 1999. mtDNA mutations were found in 20 patients; a respiratory chain defect but no mutation in 4; an abnormal lactate stress test but no mutation or biochemical defect in 66; and ragged-red fibres or reduced oxidative enzyme staining but no mutation, biochemical defect or abnormal lactate stress test in 40 patients. The most frequent initial manifestation of RCD were limb weakness, muscle pain and sensory disturbances. The most frequent clinical findings at diagnosis were muscle pain, fatiguability, limb weakness, reduced tendon reflexes and muscle wasting, irrespective of the diagnostic evidence. Mean age at onset, disease duration and time until diagnosis were 39, 14 and 13 years, respectively, without sex differences. The family history was positive in 29% of the patients. Hyperlipidaemia was found in 45%, hyper-CK-aemia in 42%, short stature in 33%, thyroid dysfunction in 17%, diabetes in 12%, and epilepsy in 8% of the patients. Laboratory investigations that prove useful to support the diagnosis of RCD are muscle biopsy, electromyography, lactate stress testing, echocardiography and mtDNA analysis. Systems most often involved in RCDs were the PNS, CNS, endocrine system and heart. The diagnosis of RCD requires awareness of the great phenotypic heterogeneity and an individualized, integral, multidisciplinary approach.

Adolescent↗
PubMed2001

Relation of cardiac abnormalities and CTG-repeat size in myotonic dystrophy.

It is unclear if the severity of cardiac involvement in patients with myotonic dystrophy (MD) is related to the size of the CTG-repeat expansion. This open, uncontrolled, observational, prospective study aimed to find out if there is a relation between the severity of cardiac involvement in MD and the CTG-repeat size. In 21 patients with MD, (8 women, 13 men, aged 11-88 years) a detailed cardiologic examination, including history, clinical examination, electrocardiography (ECG), transthoracic echocardiography and ambulatory 24-h ECG, was carried out and cardiac involvement was assessed according to a previously described scoring system. Additionally, the CTG-repeat size was determined from nuclear DNA of blood leukocytes. The correlation between the CTG-repeat size and the mean heart rate, PQ-interval, QTc-interval, fractional shortening, left ventricular enddiastolic diameter, septal thickness, posterior wall thickness, mean heart rate on 24-h ECG and cardiac involvement score was r=0.47, r=0.086, r=0.11, r=-0.27, r=-0.34, r=-0.06, r=-0.12, r=0.16 and r=0.09 (all p>0.05), respectively. In patients 21-30, 31-40 and 41-50 years of age, cardiac involvement increased with increasing CTG-repeat size. In younger patients, the number of CTG-repeats needed to develop a reasonable cardiac involvement was higher than in older patients. Depending on age, cardiac involvement increases with increasing CTG-repeat size obtained from blood leukocytes in patients with MD.

Adolescent↗
PubMed2001

Visually evoked potentials in respiratory chain disorders.

OBJECTIVES: Little is known about the frequency of abnormal visually evoked potentials (VEPs) in patients with respiratory chain disorders (RCDs). We thus wanted to investigate the frequency of abnormal VEPs in RCDs, how often VEPs are abnormal despite normal visual acuity, and which of the VEP variables are most often abnormal. MATERIAL AND METHODS: Reversal checkerboard VEPs of 26 patients with RCDs, aged 32-74 years, were evaluated. RESULTS: VEPs were abnormal in 17 of the 26 cases (65%). The P100 latency was prolonged at least unilaterally in 16 patients. The P100/N145 amplitude was decreased in a single patient. VEPs were abnormal without visual impairment in 9 cases (53%). CONCLUSION: VEPs prove useful to detect clinical or subclinical impairment of the optical tract in patients with RCDs. In the majority of the cases, the P100 latencies are prolonged while the P100/N145 amplitude remains normal.

Adult↗
PubMed2001

Generalised spinal cord atrophy, Chiari-I malformation, and syringomyelia.

OBJECTIVES: To report the simultaneous occurrence of generalised spinal cord atrophy, Chiari-I malformation, and syringomyelia. SETTING: Vienna, Austria. CASE DESCRIPTION: An 83-year old woman presented with predominantly lower limb and distal tetraparesis, diffuse wasting, spasticity of both lower limbs, contractures, and severe kyphoscoliosis. Radiographic examinations revealed generalised spinal cord atrophy, Chiari-I malformation, and syringomyelia between C5 and C7. The generalised spinal cord atrophy was assumed to be due to either secondary atrophy or spontaneous collapse of a formerly more extensive syringomyelia. All other causes for generalised spinal cord atrophy were excluded. CONCLUSIONS: Generalised spinal cord atrophy in a patient with Chiari-I malformation and syringomyelia may be due to either secondary atrophy or spontaneous collapse of a formerly holocord syringomyelia. Myelography and MRI imaging of the spine are helpful in diagnosing this condition.

Aged↗
PubMed2001

Severe, isolated thrombocytopenia under polytherapy with carbamazepine and valproate.

It is not known whether polytherapy with carbamazepine (CBZ) and valproate (VPA) increases the risk of thrombocytopenia. A 67-year-old woman with symptomatic epilepsy since age 6 years, classified as Lennox-Gasteau syndrome, developed severe, isolated thrombocytopenia of 5 GIGA/L (normal: 150-360 GIGA/L) after being on CBZ (1200 mg/day) for 15 days and additional VPA (300 mg/day) for 5 days in combination. After discontinuation of CBZ and VPA and two thrombocyte transfusions, the thrombocyte count normalized within 3 days. Because she had been taking VPA for only 5 days in addition to CBZ, it could not be confirmed whether it was CBZ alone or the combination of CBZ and VPA that was responsible for the severe thrombocytopenia.

Aged↗
PubMed2001

Serum creatine kinase elevation in a medical department.

Serum creatine kinase (CK) levels are diagnostic markers for acute myocardial infarction. Many other causes however, including neuromuscular disorders, may induce serum CK elevation as well. Aim of the study was to investigate the prevalence of potential causes for serum CK elevation in a medical department. In particular we were interested in the recognition of patients in whom serum CK elevation was due to a neuromuscular disorder. Included in this prospective study were 100 consecutive patients in whom the CK level, determined at admission, was increased (> 70 IU/l in female, > 80 IU/l in male patients). After admission we looked for the presence of causes known to induce CK elevation. Patients with no potential cause for CK elevation were invited for follow-up investigations three months later. If no potential cause could be found and if CK was elevated again on this occasion, the patient was referred for a comprehensive neurological investigation. The prevalence of patients with CK elevation was 11.2%. The 100 patients (44 female, 56 male) were aged from 23 to 94 (mean 67) years. In 95% CK elevation was only up to 500 IU/l. The most frequent cause for serum CK elevation was acute myocardial infarction in 32%. Further frequent causes were drug intake (32%), fall (24%), haematoma (17%), intramuscular injection (16%) and malignancy (11%). In 61% of the cases at least two potential causes for serum CK elevation could be detected. Neuromuscular disorders were found in only 2%. This study shows that serum CK elevation occurs in 11% of patients admitted to a medical department and can be explained by acute myocardial infarction in only 32%. In almost two thirds of the patients, more than one potential cause for serum CK elevation can be found thus making CK elevation a rather unspecific finding. Neuromuscular disorders are rarely found as a cause of serum CK elevation in a medical department.

Accidental Falls↗
PubMed2001

Cerebrospinal-fluid lactate in adult mitochondriopathy with and without encephalopathy.

Despite improved diagnostic facilities, the diagnosis of mitochondriopathy (MCP) is sometimes difficult to establish. This study aimed to investigate whether CSF lactate can be of diagnostic help in this respect. Cerebrospinal-fluid (CSF) lactate and its relation to resting lactate and lactate stress testing were investigated in 26 MCP patients, aged 30-84 years. The upper reference limit of CSF lactate, obtained from 28 healthy subjects, was 1.6 mmol/l. Seven MCP patients (27%) had elevated CSF lactate. Five of these patients had central nervous system (CNS) abnormalities other than elevated CSF lactate. In two patients with increased cerebrospinal-fluid lactate, lactate stress testing was normal or could not be carried out. In conclusion, CSF lactate is elevated in one quarter of adult MCP patients. CSF lactate is preferentially elevated in patients with additional CNS abnormalities other than elevated CSF lactate. If the results for resting lactate or lactate stress testing are normal or unavailable, determination of CSF lactate may be of diagnostic support in single cases.

Adult↗
PubMed2001

Intramyocardial hematoma mimicking abnormal left ventricular trabeculation.

Intramyocardial hematoma may present as a tumor or pseudoaneurysm on echocardiography. A 68-year-old man was admitted with a subacute posterior wall infarction complicated by ventricular fibrillation. Echocardiography showed isolated left ventricular abnormal trabeculations, a finding suggesting an associated skeletal muscle disorder, in the lateral wall. At cardiac surgery, performed 6 weeks later because of severe 3-vessel disease, an intramyocardial hematoma of the lateral wall was excised, and myocardial and skeletal muscle biopsies were taken, which showed neither isolated left ventricular abnormal trabeculations nor skeletal muscle disorder. Postoperatively, echocardiography revealed no abnormal trabeculations.

Aged↗