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Biomedical subjects

J Finsterer

Publications and source records attributed to J Finsterer.

At least 19 recordsLinked to original sources
PubMed2006

Positive troponin-T in noncompaction is associated with neuromuscular disorders and poor outcome.

OBJECTIVES: Though cardiac troponin-T may be positive in hypertrophic and dilated cardiomyopathy, it is not known how often troponin-T is positive in left ventricular hypertrabeculation/ noncompaction (LVHT), an unclassified cardiomyopathy. This retrospective study aimed to assess how often troponin-T is positive in LVHT, is associated with elevated CK, is attributable to cardiac or extra-cardiac causes, in particular neuromuscular disorders (NMDs), or if it is a predictor of poor survival. RESULTS: Among 100 patients, detected over a period of 11 years, troponin-T was determined at least once in 71 (71%) of them. Troponin-T was determined once in 36 patients, twice in 8 cases, three times in 11 patients, and more than three times in 16 cases. Troponin- T was positive at least once in 12 patients (17%). Forty-five of the 71 patients suffered from a NMD (63%). Troponin-T positivity was associated with elevated CK in 6 cases. Troponin-T-positivity was attributable to acute myocardial ischemia in a single case, to chronic renal failure in 5 cases, to dilated cardiomyopathy in 4 cases, to atrial fibrillation in 3 cases, to heart failure in 4 cases, and to NMD in 10 cases. Troponin-T positivity in LVHT patients with NMD was assumed to be due to cardiac involvement in the disease. Among the 22 patients who died during the observational period troponin was determined in 16 and was positive in 4 (25%). CONCLUSIONS: Troponin-T is positive in 17% of the patients with LVHT. Most of these patients suffer from a NMD. Troponin-T positivity in LVHT predicts the presence of NMD and poor survival.

Adult↗
PubMed2006

[Medically induced myopathia].

Muscular side effects of various anesthetics, analgetics, antibiotics, antihistaminic drugs, antiretrovirals, cardiotropics, immunosuppressants, lipid-lowering drugs, psychotropic drugs, anticancer drugs, and other substances are more frequent than assumed and are easily overlooked. Clinically, muscular side effects manifest as fatigue, myalgias, persistent or transient weakness, stiffness, intolerance to exercise, psychomotor slowing, muscle cramps, wasting, dyspnea, dysphagia, fasciculations, reduced tendon reflexes, impaired consciousness, myoglobinuria, renal failure, or hyperthermia. Diagnosis of these drug-induced myopathies is based on history, clinical neurologic examination, blood work, urine analysis, repetitive stimulation, electromyography, and muscle biopsy. A drug which induces muscular side effects should never be given again. Particularly in patients suffering from primary myopathy, myotoxic drugs should be applied with caution. The drugs which most frequently induce muscular side effects are steroids, statins, fibrates, antiretrovirals, immunosuppressants, colchicine, amiodarone, and anticancer drugs. Many drugs exhibit their myotoxic potential only in combination with other drugs or premorbid pathologic myogenic conditions.

Drug-Related Side Effects and Adverse Reactions↗
PubMed2006

Pseudotumour cerebri in a young obese woman on oral contraceptives.

OBJECTIVES: Pseudotumour cerebri has been previously recognized as a neurological side effect of combined oral contraceptives but has not been diagnosed with a delay of 3 years after initiation of combined oral contraceptives. CASE REPORT: A 19-year-old obese woman developed visual impairment and headache, 4 months after starting combined oral contraceptives. Three years later symptoms deteriorated and she presented with prominent tendon-jerks and congested optical-discs. Normal CSF drained with high pressure from the spinal tap. Pseudotumour cerebri was diagnosed. Headache and visual impairment resolved within 3 weeks after discontinuation of combined oral contraceptives. CONCLUSIONS: Combined oral contraceptives-induced pseudotumour cerebri may remain undetected for years. Young, obese women with visual impairment and headache under combined oral contraceptives should undergo immediate neurological and ophthalmological investigation.

Adult↗
PubMed2006

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy.

The objective of this study was to report a novel exon-1 mutation in the myelin protein zero (MPZ) gene, resulting in axonal Charcot-Marie-Tooth neuropathy with recurrent hyper-CK-emia. In a 64-year-old woman slowly progressive distal lower limb weakness, muscle cramps in the lower limb muscles, and stocking-type numbness had developed from the age of 61. Neurologic examination revealed discrete hip flexor weakness, weakness for foot extension, diffuse wasting of the distal lower limb muscles, reduced patella tendon reflexes, and absent Achilles tendon reflexes. There was recurrently elevated creatine kinase with a maximum of 607 U/l (n, <145 U/l). Stimulation of the peroneal and tibial nerves did not evoke a muscular response. Electromyography was neurogenic. Biopsy of the right sural nerve showed diffuse axonal degeneration and loss of axons of all diameters. Muscle biopsy showed increased fiber-size variability, angulated fibers, internalized nuclei, accumulations of nuclei, grouped atrophic muscle fibers, and fiber splitting. Molecular genetic analysis by PCR and direct nucleotide sequencing revealed the heterozygous C59T exon-1 MPZ gene mutation, resulting in the amino acid exchange S20F of the MPZ signal protein domain (leader peptide). 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.

Charcot-Marie-Tooth Disease↗
PubMed2006

Central nervous system manifestations of mitochondrial disorders.

The central nervous system (CNS) is, after the peripheral nervous system, the second most frequently affected organ in mitochondrial disorders (MCDs). CNS involvement in MCDs is clinically heterogeneous, manifesting as epilepsy, stroke-like episodes, migraine, ataxia, spasticity, extrapyramidal abnormalities, bulbar dysfunction, psychiatric abnormalities, neuropsychological deficits, or hypophysial abnormalities. CNS involvement is found in syndromic and non-syndromic MCDs. Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis. As CNS involvement is often subclinical, the CNS including the spinal cord should be investigated even in the absence of overt clinical CNS manifestations. CNS investigations comprise the history, clinical neurological examination, neuropsychological tests, electroencephalogram, cerebral computed tomography scan, and magnetic resonance imaging. A spinal tap is indicated if there is episodic or permanent impaired consciousness or in case of cognitive decline. More sophisticated methods are required if the CNS is solely affected. Treatment of CNS manifestations in MCDs is symptomatic and focused on epilepsy, headache, lactacidosis, impaired consciousness, confusion, spasticity, extrapyramidal abnormalities, or depression. 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.

Brain↗
PubMed2006

Pitfalls in the diagnosis of left ventricular hypertrabeculation/non-compaction.

Left ventricular hypertrabeculation/non-compaction (LVHT) is a cardiac abnormality, characterised by >3 trabeculations apically to the papillary muscles and intertrabecular spaces. LVHT may occur with other cardiac abnormalities, heart failure, electrocardiographic abnormalities and neuromuscular disorders. This study gives an overview about (1) patients with LVHT in whom LVHT was initially overlooked and (2) cardiac conditions that may lead to falsely diagnosed LVHT. In 50 reported cases, LVHT has been overlooked and misdiagnosed as dilated (n = 20), hypertrophic (n = 14) or restrictive cardiomyopathy (n = 2), endocardial fibroelastosis (n = 5), endomyocardial fibrosis (n = 1), myocarditis (n = 3), thrombus (n = 2), localised left ventricular hypertrophy (n = 1), left ventricular mass (n = 1) or myocardial/pericardial disease (n = 1). In 14 patients, LVHT was diagnosed only by transoesophageal echocardiography (n = 1), computed tomography (n = 2) ventriculography (n = 2), magnetic resonance imaging (n = 3) or pathoanatomic findings (n = 6). Falsely diagnosed LVHT comprises false tendons, aberrant bands, thrombi, apical hypertrophic cardiomyopathy, fibroma, obliterative processes, intramyocardial haematoma, cardiac metastases and intramyocardial abscesses. Echocardiographers should be more aware of LVHT and consider its differential diagnoses.

Diagnostic Errors↗
PubMed2006

Overview on visceral manifestations of mitochondrial disorders.

Mitochondriopathies (MCPs) that reach adult age not only manifest in the central and peripheral nervous systems, eyes, ears, and dermis, but also in visceral organs, such as endocrine organs, heart, liver, guts, kidneys and blood. Visceral manifestations occur as part of a multisystem involvement or rarely as single organ affection. Endocrinological abnormalities are found in the MELAS, MERRF , KSS , MID and DID MOAD syndromes. Cardiac involvement occurs in the MELAS, MERRF , KSS , CPEO, LHO N, NARP, and Leigh syndromes. Gastrointestinal manifestations are common in the MERRF , MNGI E, DID MOAD, and Leigh syndromes. Mitochondrial syndromes with renal manifestations are the KSS , Pearson, DID MOAD, and Leigh syndromes. The haematopoetic system is affected in the KSS , MERRF , and Leigh syndromes. In addition, visceral manifestations are found in many nonsyndromic MCPs. 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.

Algorithms↗
PubMed2006

QT prolongation due to aortic aneurysm rupture and amiodarone in a patient with a H558R polymorphism in the cardiac sodium channel gene SCN5A.

The duration of the QT interval is influenced by many pathologic processes and drugs. We report a 74-year-old man who was admitted after syncope. His electrocardiogram (ECG) showed a QT interval of 0.44 s (QTc 0.53 s). After 10 h a ruptured abdominal aortic aneurysm was diagnosed and the patient underwent implantation of an aorto-bi-iliac Y-prosthesis. After surgery QT interval normalized. Under therapy with amiodarone, given because of atrial fibrillation, QT prolongation occurred again and disappeared after discontinuation of amiodarone. The postoperative course was complicated by critical illness polyneuropathy and plexopathy. Whereas amiodarone is a well recognized cause of QT prolongation, aortic aneurysm rupture has not been described previously. Vegetative mechanisms and sudden decrease of cardiac afterload due to the ruptured aneurysm may have altered myocardial repolarisation and thus prolonged QT interval duration. 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.

Aged↗
PubMed2005

Multifocal leukoencephalopathy and polyneuropathy after 18 years on interferon alpha.

Multifocal leukoencephalopathy and sensory-motor polyneuropathy have not been reported as side-effects of long-lasting interferon alpha therapy in a single patient. In a 77-year-old man interferon alpha2b and interferon alpha2a were administered subsequently but continuously since 1984 for hairy cell leukemia. Since early 2000, left-sided hemi-hypesthesia occurred and the patient developed gait disturbance, proximal weakness of the lower limbs, bilateral stocking-type sensory disturbances, and restless leg syndrome. Repeated cerebral magnetic resonance images showed multifocal T2-hyperintense white matter lesions supratentorially. The nerve conduction velocity of the peroneal and sural nerve was reduced. After exclusion of various differential diagnoses of leukoencephalopathy and application of a screening program for polyneuropathy, central and peripheral nervous system abnormalities were attributed to the long-lasting interferon alpha therapy. In single patients abnormally long-lasting interferon alpha therapy may cause multifocal white matter lesions supratentorially and sensory-motor polyneuropathy.

Aged↗
PubMed2005

Treatment of immune-mediated, dysimmune neuropathies.

This review focuses on the actual status and recent advances in the treatment of immune-mediated neuropathies, including: Guillain-Barre syndrome (GBS) with its subtypes acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy, acute motor and sensory axonal neuropathy, Miller Fisher syndrome, and acute pandysautonomia; chronic inflammatory demyelinating polyneuropathy (CIDP) with its subtypes classical CIDP, CIDP with diabetes, CIDP/monoclonal gammopathy of undetermined significance (MGUS), sensory CIDP, multifocal motor neuropathy (MMN), multifocal acquired demyelinating sensory and motor neuropathy or Lewis-Sumner syndrome, multifocal acquired sensory and motor neuropathy, and distal acquired demyelinating sensory neuropathy; IgM monoclonal gammopathies with its subtypes Waldenstrom's macroglobulinemia, myelin-associated glycoprotein-associated gammopathy, polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome, mixed cryoglobulinemia, gait ataxia, late-onset polyneuropathy syndrome, and MGUS. Concerning the treatment of GBS, there is no significant difference between intravenous immunoglobulins (IVIG), plasma exchange or plasma exchange followed by IVIG. Because of convenience and absent invasiveness, IVIG are usually preferred. In treating CIDP corticosteroids, IVIG, or plasma exchange are equally effective. Despite the high costs and relative lack of availability, IVIG are preferentially used. For the one-third of patients, who does not respond, other immunosuppressive options are available. In MMN IVIG are the treatment of choice. Inadequate response in 20% of the patients requires adjunctive immunosuppressive therapies. Neuropathies with IgM monoclonal gammopathy may respond to various chemotherapeutic agents, although the long-term effects are unknown. 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.

Adrenal Cortex Hormones↗
PubMed2005

Tako-tsubo-like left ventricular dysfunction: clinical presentation, instrumental findings, additional cardiac and non-cardiac diseases and potential pathomechanisms.

Tako-tsubo-like left ventricular dysfunction phenomenon (TTP) has primarily been described in Japan and is characterized by transient left ventricular apical ballooning in the absence of coronary artery disease, associated with chest symptoms, electrocardiographic changes and minimal cardiac enzymes release. Aim of the present review is to summarize the current knowledge about TTP. TTP has been described predominantly in females. TTP occurs also outside Japan. Clinical symptoms comprise anginal chest pain, dyspnea and syncope. TTP occurs frequently after acute emotional or physical stress. Electrocardiographic ST- elevations may be present only for several hours. Then, normalization of the ST-segment occurs, followed by negative T waves, which persist for months. Arterial hypertension in TTP is found in up to 76%, hyperlipidaemia in up to 57%, diabetes mellitus in up to 12% and smoking in up to 18% of the patients. Several pathomechanisms have been proposed: myocardial stunning due to increased catecholamine levels, coronary vasospasm, atherosclerotic plaques rupture, myocarditis, catecholamine-induced hyperkinesis of the basal left ventricular segments and genetic. Patients with TTP should be monitored like patients with myocardial infarction. Care should be taken in the application of catecholamines and nitrates. Betablockers should be given in the acute and chronic phase, and possibly indefinitely to prevent recurrences. The prognosis of TTP is assumed to be good, but in the acute phase there are deaths due to multisystem organ failure, cardiogenic shock, ventricular fibrillation and ventricular rupture. The long term prognosis of TTP patients is largely unknown.

Humans↗