J Finsterer

..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...

..Patients with myopathy and AFI/AFL require thorough surveillance. If additional cardiovascular risk factors develop, OAC should be considered as in patients with other causes of AFI/AFL...

..Long-term administration of propranolol may aggravate a mitochondrial disorder. Discontinuation of propranolol may result in a gradual resolution of these adverse reactions...

..In single cases immunoglobulins, immunoadsorbtion, or plasma exchange have been successfully applied. In case of virus-associated vasculitis interferon-alpha plus lamivudine or ribaverin may be beneficial...

..The case confirms that LVHT may be acquired in single cases with neuromuscular disease and may represent an adaptive mechanism of an impaired myocardium...

..Although myasthenia gravis is frequently associated with other disorders, it has not been reported together with primary sclerosing cholangitis, complicating the administration of liver-toxic immunosuppressive therapy...

..Only single patients may profit from cholinesterase inhibitors or memantine, antioxidants, vitamins, or other substitutes. Overall, cognitive decline in RCDs (mitochondrial dementia) needs to be included in the differentials of dementia...

..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...

..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...

..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...

..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...

..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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..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...

..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...

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

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

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

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

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

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

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

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

..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...

..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...

..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...

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

..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...

..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, the ability to walk lost only late in life, only few patients require ventilatory support, and life expectancy only slightly reduced...

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

..The diagnosis is confirmed by demonstration of a biochemical respiratory chain defect or one of the disease-causing mutations, of which 80 % affect the mitochondrial tRNALeu gene...

..General anesthesia needs to be performed in the same way as in patients with susceptibility for malignant hyperthermia...

..AEFs result in an overflow of esophageal contents into the left atrium with subsequent systemic embolization...

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

..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...

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

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

..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...

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

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

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..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...

..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...

..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...

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

..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...

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..Cognitive impairment may be a CNS manifestation of syndromic as well as non-syndromic MIDs. Correct diagnosis of mitochondrial cognitive impairment is a prerequisite for the optimal management of these patients...

..In conclusion in a patient with syncope and QT prolongation, extracardiac causes like rupture or an aortic aneurysm have to be included into the differential diagnosis...

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..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...

..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...

..The novel C59T mutation in the leader peptide of the MPZ gene is pathogenic and manifests as severe, late-onset, axonal, symmetric sensorimotor polyneuropathy (CMT2) and hyper-CK-emia...

..Visually-evoked potentials may prove useful in diagnosing Creutzfeld-Jakob disease with atypical initial presentation...

..Effective treatment acting on the pathogenic cascade may increase the quality of life and outcome in patients with MID and may prevent a therapeutic nihilism occasionally upcoming with MIDs...

..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...

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

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

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

..Echocardiographers should be more aware of LVHT and consider its differential diagnoses...

..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...

..Generally, early recognition of the infectious agent is of paramount importance to prevent from spreading and the development of severe hemolysis, septic shock, or death...

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

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

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

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..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...

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

..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 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 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...

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

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

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

..Since left ventricular hypertrabeculation/noncompaction (LVHT) is regarded a subtype of hypertrophic cardiomyopathy, we looked for the alpha-galactosidase levels in blood leukocytes of LVHT patients...

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