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Biomedical subjects

Josef Finsterer

Publications and source records attributed to Josef Finsterer.

At least 73 records · Page 4Linked to original sources
PubMed2005

Age-dependency of cardiac and neuromuscular findings in left ventricular noncompaction.

BACKGROUND: Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality characterized by prominent trabeculations and intertrabecular recesses, and frequently associated with neuromuscular disorders (NMD). Initially described in children and young adults, LVHT has been found also in elderly. 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. METHODS AND RESULTS: In 86 patients LVHT was diagnosed echocardiographically between June 1995 and December 2004 (65 male, median age 52 years, range 14-94). All patients underwent a baseline cardiologic investigation and were invited for a neurologic investigation. A specific NMD was diagnosed in 21 (metabolic myopathy, n = 14; Leber's hereditary optic neuropathy, n = 3; myotonic dystrophy, n = 2; Becker muscular dystrophy, n = 1; Duchenne muscular dystrophy, n = 1), a NMD of unknown etiology in 32. The neurologic investigation was normal in 13 and was refused by 20 patients. Patients above median age had more often heart failure (43% versus 95%, p < 0.02) and valvular abnormalities (71% versus 36%, p < 0.02) than below median age. Patients >71 years had more often exertional dyspnoea (39% versus 81%, p < 0.02), left bundle branch block (9% versus 38%, p = 0.031), larger left-ventricular enddiastolic diameters (68 versus 60 mm, p < 0.02) and a lower left-ventricular fractional shortening than patients <34 years (18% versus 29%, p < 0.02). No age-dependency was detected regarding location and extension of LVHT and the neurologic diagnosis. CONCLUSION: There is no age-dependent typical pattern of LVHT regarding clinical, echocardiographic and neurologic findings. Echocardiographers should be aware of this cardiac abnormality when investigating patients of any age.

Adolescent↗
PubMed2005

Anti-GQ1b-negative Miller-Fisher syndrome with lower cranial nerve involvement from parasinusoidal aspergilloma.

Miller-Fisher syndrome (MFS) typically presents with ophthalmoplegia, ataxia, and areflexia. Atypical MFS additionally includes bulbar impairment, affection of the limbs, or abortive presentations. Mostly, MFS follows an infection with Campylobacter jejunii. Aspergilloma has not been reported to trigger MFS. In a 48-year-old male tiredness, tinnitus, otalgia, parietal hyperaesthesia, coughing, plugged nose, hypoacusis, globus sensation, epipharyngeal pain, dysarthria, hypogeusia, arthralgia, lid cloni, facial hypaesthesia and tooth ache consecutively developed. There were occasional lid cloni, left-sided facial hypaesthesia, reduced gag reflex, divesting soft palate, and absent tendon reflexes. CSF investigations revealed normal cell-count but increased protein. Antibodies against GM1 and GQ1b were negative. Atypical MFS was diagnosed. Otolaryngological examinations revealed chronic sinusitis maxillaris from an aspergilloma. After immunoglobulins and resectioning of the aspergilloma, neurological abnormalities disappeared within 19d. MFS may manifest as unilateral lower cranial nerve lesions without affection of the upper cranial nerves or ataxia. Atypical MFS may be triggered by parasinusoidal aspergilloma.

Aspergillosis↗
PubMed2005

Autonomic dysfunction in left ventricular hypertrabeculation/noncompaction.

The findings of Kawasaki et al. [T. Kawasaki, A. Azuma, T. Taniguchi, et al. Heart rate variability in adult patients with isolated left ventricular noncompaction. Int J Cardiol 2005;99:147-150.] raise the following questions: why was dilated cardiomyopathy not investigated? How many of the patients with left ventricular hypertrabeculation/noncompaction (LVHT) showed abnormalities in the resting ECG and in the 24-h-Holter-monitoring? Was there any correlation with extension of LVHT and heart rate variability? Were the patients investigated neurologically and did they show other signs of autonomic dysfunction? To assess vegetative activity in LVHT patients, more comprehensive testing than simply Holter-monitoring is required.

Cardiomyopathy, Hypertrophic↗
PubMed2005

Recovery from parkinson syndrome and prolonged visually evoked potentials in hepatic encephalopathy.

The combination of Parkinson syndrome (PS) and prolonged visually evoked potentials (VEPs) in a single patient with hepatic encephalopathy (HE) has not been reported. A 52-year-old male with chronic HE developed PS in early 2001. Treatment with L-DOPA was only of minimal effect. In August 2001 he was admitted because of worsening PS and HE. There was anemia, hyperlipidaemia, markedly elevated liver-function-parameters, hyperammonemia, elevated resting-lactate, steatosis hepatis and hepatomegalia. VEPs showed markedly prolonged P100-latencies. Under L-DOPA, pramipexol, L-ornithin-L-aspartate, paromomycin-sulfate, and lactulose liver-function-parameters normalized and PS markedly improved. In February 2003, VEPs were normal. L-DOPA was discontinued by the patient in April 2003 and pramipexol in December 2003. Since then PS did not recur. This case shows that HE may go along with reversible PS and prolonged VEPs. Under adequate therapy liver-function-parameters and VEPs normalize and PS disappears.

Anti-Bacterial Agents↗
PubMed2005

Cerebrospinal fluid neurone-specific enolase in mitochondrial encephalomyopathies.

Whether cerebrospinal fluid (CSF) neurone-specific enolase (NSE) contributes to the diagnosis of mitochondrial encephalomyopathies (MEMs) is unknown. Aim of the present study was thus to assess the validity of CSF-NSE in the diagnosis of MEM. CSF-NSE was determined in 24 controls, aged 28-88 years; and 23 MEM patients, aged 47-81 years. In controls, CSF-NSE was independent of sex (p = 0.849) and age (p = 0.346). Twenty-one MEM patients had clinical CNS involvement and two CNS abnormalities on imaging investigations exclusively. CSF cells were increased in 7, CSF protein in 17, CSF glucose in 1, and CSF lactate in 2 MEM patients. The upper reference limit of CSF-NSE was 14.66 ng/mL. CSF-NSE was elevated in 6 (26%) MEM patients. CSF-NSE was increased in a single MEM patient with subclinical CNS involvement. This study shows that CSF-NSE is elevated in only one quarter of the MEM patients. Determination of CSF-NSE appears to be of minor importance for the assessment of clinical or subclinical CNS involvement in MEM.

Adult↗
PubMed2005

Basal Ganglia calcification in mitochondrial disorders.

Though basal ganglia calcification (BGC) has been recognized as a feature of mitochondriopathy, little is known about its frequency in a larger cohort. The aim of this work was to assess the frequency of BGC, type and frequency of clinical and additional imaging central-nervous-system (CNS) abnormalities and of non-CNS abnormalities in mitochondriopathy patients with BGC. Retrospectively reviewed were the records of all mitochondriopathy patients in whom BGC was found on cerebral CT during 10 years. Among those who underwent cerebral CT, thirty-six, 24 women, 12 men, aged 33-93 years, showed BGC. The most frequent clinical CNS manifestations in these patients were epilepsy (n = 9), Parkinson syndrome (n = 9), dementia (n = 7), dysarthria (n = 5), spasticity (n = 4), tremor (n = 4), or stroke (n = 4). Additional cerebral CT-findings were atrophy (n = 10), lacunas (n = 6), leucaraiosis (n = 6), focal gliosis (n = 4), or stroke (n = 1). MR imaging, carried out in 12 patients, confirmed BGC in one. The 36 patients presented with involvement of the CNS (n = 32), endocrine system (n = 29), peripheral nervous system (n = 28), heart (n = 23), inner ear (n = 16), eyes (n = 15), guts (n = 11), blood (n = 9), kidney (n = 2), or dermis (n = 2). BGC occurs in one sixth of non-selected patients with mitochondriopathy and is associated with clinical and imaging CNS abnormalities and multisystem disease in the majority of them.

Adult↗
PubMed2005

Mitochondrial neuropathy.

Polyneuropathy is a frequent feature of mitochondriopathy (MCP). If and how often polyneuropathy in MCP is primarily due to the underlying disorder (mitochondrial neuropathy, MN) or due to other well-known causes is unknown. Retrospectively investigated were 108 MCP-patients with polyneuropathy. According to established diagnostic criteria 37 patients were classified as definite MCP, 56 as probable MCP and 15 as possible MCP. In 38 of the 108 MCP-patients with polyneuropathy (35%), no plausible cause for polyneuropathy other than MCP could be found. MN was characterized by weakness, muscle cramps, wasting, reduced tendon reflexes, muscle pain, ataxia, restless legs, hypesthesia, paresthesia, dysesthesia, and vegetative impairment. In 21 cases predominantly motor fibers, in 14 cases both motor and sensory fibers and in 3 cases predominantly sensory fibers were affected. Axonal degeneration was found in 19 cases, demyelination in 4 and mixed-type polyneuropathy in 15. On sural nerve biopsy axonal loss was the predominant finding. In a single case tomaculae and abnormally shaped and structured mitochondria were found. MN exists, occurs in one third of the MCP-patients with polyneuropathy, and is characterized by predominant affection of the motor and sensory fibers with diffuse, symmetric and equal distribution between upper and lower limbs and by axonal degeneration.

Adult↗
PubMed2005

Cardiologic and neurologic findings in left ventricular hypertrabeculation/non-compaction related to wall thickness, size and systolic function.

Left ventricular hypertrabeculation/noncompaction (LVHT) is a rare cardiac abnormality, diagnosed echocardiographically when >3 left ventricular trabeculations are visible in one image plane apically to the papillary muscles and intertrabecular spaces are perfused from the ventricular cavity. In the majority of the cases, LVHT is associated with neuromuscular disorders (NMD). LVHT occurs in dilated as well as in normally sized ventricles, with or without systolic dysfunction and wall thickening. Aim of the study was to assess whether cardiologic and neurologic findings differ between patients according to echocardiographically determined left ventricular size, systolic function and wall thickness. In 77 patients (19 f, mean age 52 years) LVHT was diagnosed. LVHT was assessed as 'dilative' (enddiastolic diameter >or=60 mm and fractional shortening or=12 mm and fractional shortening >or=26%) and in the remaining 16 patients as 'normally-dimensioned'. Dilative LVHT patients were older than hypertrophic or normally-dimensioned LHVT patients. The prevalence of NMD was 63% in dilative LVHT, 67% in hypertrophic LVHT and 56% in normally-dimensioned LVHT. 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.

Adult↗
PubMed2005

Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.

Half of the cases with congenital impaired hearing are hereditary (HIH). HIH may occur as part of a multisystem disease (syndromic HIH) or as disorder restricted to the ear and vestibular system (nonsyndromic HIH). Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from sensorineural hearing loss. One percent of the total human genes, i.e. 300-500, are estimated to cause syndromic and nonsyndromic HIH. Of these, approximately 120 genes have been cloned thus far, approximately 80 for syndromic HIH and 42 for nonsyndromic HIH. In the majority of the cases, HIH manifests before (prelingual), and rarely after (postlingual) development of speech. Prelingual, nonsyndromic HIH follows an autosomal recessive trait (75-80%), an autosomal dominant trait (10-20%), an X-chromosomal, recessive trait (1-5%), or is maternally inherited (0-20%). Postlingual nonsyndromic HIH usually follows an autosomal dominant trait. Of the 41 mutated genes that cause nonsyndromic HIH, 15 cause autosomal dominant HIH, 15 autosomal recessive HIH, 6 both autosomal dominant and recessive HIH, 2 X-linked HIH, and 3 maternally inherited HIH. Mutations in a single gene may not only cause autosomal dominant, nonsyndromic HIH, but also autosomal recessive, nonsyndromic HIH (GJB2, GJB6, MYO6, MYO7A, TECTA, TMC1), and even syndromic HIH (CDH23, COL11A2, DPP1, DSPP, GJB2, GJB3, GJB6, MYO7A, MYH9, PCDH15, POU3F4, SLC26A4, USH1C, WFS1). Different mutations in the same gene may cause variable phenotypes within a family and between families. Most cases of recessive HIH result from mutations in a single locus, but an increasing number of disorders is recognized, in which mutations in two different genes (GJB2/GJB6, TECTA/KCNQ4), or two different mutations in a single allele (GJB2) are involved. This overview focuses on recent advances in the genetic background of nonsyndromic HIH.

Connexin 26↗