J Finsterer

..Mitochondriopathy has been rarely reported to imitate motor neuron disease...

..aureus on blood culture, and autopsy. Patients with BD and immunosuppressive therapy, may be more vulnerable to infections and may develop lethal overwhelming sepsis already after overnight cold exposure...

..To report the elevation of the 14-3-3 protein and the complete denervation of hand muscles in idiopathic acute transverse myelitis (IATM) of the cervical cord...

..The most useful parameter in this respect is the T/S, which, contrary to IAD, is increased in patients with neuropathies as well as patients with myopathies...

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..After 10 weeks of therapy, recovery was almost complete. Spondylodiscitis with epidural abscess may have a favorable outcome, even if symptoms start more than 2 years before treatment...

..Although there is growing evidence for a relation between Parkinson syndrome (PS) and mitochondriopathy (MCP), little is known about the frequency of PS in MCP...

..Except for slight amnesia, neuropsychological deficits had disappeared and [99Tc]-HMPAO-SPECT normalized, 29 days later. Decreased cortical blood flow was explained by vasoconstriction following ecstasy-induced depletion of serotonin...

..To assess how often mitochondrial myopathy (MMP) mimics amyotrophic lateral sclerosis (ALS) and the phenotypic similarities and differences between these two disorders...

..In conclusion, this case demonstrates that NPS may be randomly associated with RCD. NPS patients should undergo detailed cardiological and neurological investigations, in order not to overlook a double trouble partially mimicking NPS...

..In conclusion, long-QT syndrome does not seem to be confined to the heart but may involve the skeletal muscle subclinically as well...

..Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle...

..ILVAT is assumed to be a cardiac manifestation of a neuromuscular disorder or a special type of a cardiomyopathy...

..Left ventricular hypertrabeculation (LVHT) has not been described in myotonic dystrophy Type I (MD1) before...

..In conclusion, the LSTA should be preferred to the LSTR. Three lactate determinations during 15 min have no advantage over a single lactate determination after a 5 min workload of 30 W...

..In the patient presented, cardiac microabscesses due to candida sepsis mimicked LV noncompaction and should be considered in the differential diagnosis of LV noncompaction...

..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...

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..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...

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..In particular it is not known to what degree CN-MUAP variables reflect the electrical properties of a motor unit...

..With other causes excluded, malnutrition and gastrectomy were considered responsible for hypokalemia in this patient with acute tetraparesis and chronic alcoholism...

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..Neuromuscular disorders are rarely found as a cause of serum CK elevation in a medical department...

..LQTS, due to a KVLQT1 mutation, may manifest not only in the heart, but subclinically also in the skeletal muscle...

..Severe hypothyroidism may be associated with highly elevated creatine kinase and myopathy. Adequate therapy leads to complete recovery, including myopathy...

..For diagnostic, therapeutic and prognostic implications, diagnostic work-up should be carried out as soon as possible if myopathy is suspected...

..In conclusion, cardiac manifestations of SMA mainly comprise ECG abnormalities and thickened myocardium. CI in SMA frequently necessitates cardiac therapy...

..The present study aimed to retrospectively evaluate the frequency of primary cardiac and secondary cardiac causes of troponin-T positivity, in particular how often troponin-T positivity is associated with neuromuscular disorders...

..Valproate, carbamazepine, corticosteroids, acetyl salicylic acid, local and volatile anesthetics should be applied with caution. Avoiding certain drugs is often more beneficial than application of established, apparently indicated drugs...

..Left bundle branch block (LBB) is frequently found in left ventricular hypertrabeculation/noncompaction (LVHT)...

..Left ventricular hypertrabeculation is frequently associated with neuromuscular disorders. Whether left ventricular hypertrabeculation in these patients is congenital or develops during lifetime, is unknown...

..Diagnostic work-up must avoid measures, which enlarge the fistula. Treatment is surgical exclusively...

..Aortic dissection has to be considered as a rare differential diagnosis of frontal headache, especially in patients who develop aortic regurgitation or chest pain for the first time...

..Although there is no causal therapy for MCPs, adequate symptomatic therapy, particularly of visceral manifestations, markedly improves quality of life and prognosis of these still often neglected or overlooked disorders...

..18+/-0.17 (excluded PE, n = 92), respectively (p = 0.0001). Depending on a given PE-score, the level of probability of PE can be assessed. Calculation of the PEscore can be helpful in clinical decisions when PE is suspected...

..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...

..In conclusion, subclinical epileptiform activity could be recorded by 24 h-video-EEG monitoring in only 1 of 11 RCD patients. The single patient with subclinical epileptiform activity presented with intermittent myoclonic jerks...

..Overall, atherosclerosis appears to be the endpoint of various different pathogenetic mechanisms, of which oxidative stress and disturbed mitochondrial metabolism and function are key factors...

..This case shows that intramyocardial abscesses as a result of Candida sepsis are a rare differential diagnosis of LVHT...

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..Postoperatively, echocardiography revealed no abnormal trabeculations...

..CONCLUSIONS:- Patients with increased age or diabetes mellitus or those who take >3 drugs per day have an increased complication rate and thus need especially careful monitoring of oral anticoagulation, including adequate pain control...

..Whether arteries are affected in mitochondrial disorders (MIDs) was under debate for years but meanwhile there are strong indications that large and small arteries are primarily or secondarily affected in MIDs...

..To report the genetic background of mannose-binding lectin (MBL)-deficiency in a patient with recurrent infections, cardiac disease, and myopathy...

..Polyneuropathy, myopathy and spasticity have not been described as a manifestation of a neurologic paraneoplastic syndrome (NPS) associated with anti-Yo antibodies (anti-Yo)...

..Anti-Parkinson medication is of limited effect...

..Most likely, degeneration of the longest CNS axons is due to an impaired energy supply of the anterograde and retrograde axonal transport...

..Change of such a habitual sleep position promptly resolves the symptoms...

..Wolff-Parkinson-White syndrome, myocardial thickening and ILVAT may be rare manifestations of LHON...

..In conclusion, severe heart failure due to dilated cardiomyopathy may be the initial manifestation of Becker's muscular dystrophy and may predate neuromuscular symptoms for years...

..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...

..We wanted to investigate the role of the macro-MUAP area and if macro-EMG is more helpful than conventional needle-EMG in detecting involvement of the skeletal muscle in patients with mitochondriopathy...

..0 and 4.0, the thrombus resolved after 10 weeks and no recurrence occurred over the next 30 months...

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..A correct diagnosis is desirable, however, since some of the underlying disorders may be curable, treatable, influence prognosis, or induce screening of the relatives...

..The course is slowly progressive and the ability to walk lost only late in life. Only few patients require ventilatory support and life expectancy is only slightly compromised...

..It is concluded that respiratory chain disorders due to a complex-I defect may mimic ocular myasthenia clinically, electrophysiologically, and even therapeutically...

..In conclusion a thymoma WHO A requires complete surgical resection, irrespective if the thymoma is accompanied by MG or not...

..Patients with dermatomyositis should undergo a comprehensive cardiological investigation as soon as the neurological diagnosis is established...

..During the 2003 French heatwave 15,000 excess deaths were registered. One fifths died from the combination of dehydration, heatstroke, and hyperthermia and one tenth from dehydration, despite abundant water...

..In addition, such treatment may be associated with serious side effects. Recent data support the use of rituximab, a monoclonal antibody against the B-cell surface-membrane-marker CD20...

..Myelography and MRI imaging of the spine are helpful in diagnosing this condition...

..The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies...

..This review aims to give an overview on the actual knowledge about the genetic, pathogenetic, and phenotypic implications of the A3,243G mtDNA mutation...

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..The most effective strategy for the treatment of SLEs appears to be the application of L-arginine, coenzyme-Q, steroids, edaravone, creatine-monohydrate, or dichloracetate...

..Physicians should familiarize with pancreatitis as a manifestation of a mitochondrial disorder and mitochondrial disorder should be excluded in patients with pancreatitis...

..The sensitivity of the LST is higher than that of resting lactate determination. The LST is a simple and cheap but effective and reliable screening method for detecting the impaired oxidative metabolism in MMP...

..To describe the prolonged effect of the intermediate-acting, non-depolarising neuromuscular blocking agents rocuronium and atracurium in a 29-yr-old apparently healthy woman...

..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...

..To review the current knowledge about primary periodic paralyses (PPs)...

..Overall, automatic methods of EMG interference pattern analysis are powerful tools for diagnostic and non-diagnostic purposes...

..The mutation responsible for DM2 is a CCTG-repeat expansion of 75-11 000 repeats in intron 1 of the ZNF9 gene on chromosome 3q21.3. Because of the clinical heterogeneity, the diagnosis of DM2 should rely on DNA analysis alone...

..In single patients abnormally long-lasting interferon alpha therapy may cause multifocal white matter lesions supratentorially and sensory-motor polyneuropathy...

..Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD)...

..Few data are available about myopathy and polyneuropathy as rare side effects of chloroquine treatment. Even more rarely are cerebrospinal fluid (CSF) abnormalities in chloroquine polyneuropathy/myopathy...

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..The aim of this study was to assess sex differences in a) the location and extent of LVHT/NC; b) left ventricular function; c) cardiac symptoms; d) electrocardiographic findings; e) the prevalence of NMD, and f) mortality...

..Recent studies indicate that Notch3 gene mutations not only manifest as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but also in the peripheral nerves and skeletal muscles...

..This case shows that peroneal palsy from a sealbite may recover spontaneously almost completely, but may go along with residual, subclinical, electrophysiological abnormalities. The later may be enhanced by innervation variants...

..If extracardiac examinations do not reveal a plausible cause for RCMP, endomyocardial biopsy is indicated...

..Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder...

..Aim of the study was to assess the age-dependency of clinical, electrocardiographic (ECG) and echocardiographic findings, and whether they differ according to the neurologic diagnosis...

..LHVT is more frequently found in dilated than hypertrophic ventricles. NMD are equally frequent in dilative, hypertrophic and normally-dimensioned LVHT. Cardiac abnormalities may progress with age...