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Biomedical subjects

D Claus

Publications and source records attributed to D Claus.

At least 19 recordsLinked to original sources
PubMed2006

Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2).

BACKGROUND: Autosomal dominant spinocerebellar ataxia type 2 (SCA2) bears clinical and neuropathologic similarities to sporadic multisystem atrophy (MSA) or Parkinson disease, in which sleep pathology is well documented. However, those clinical entities have a marked variability of the reported sleep disturbances, and their etiology is heterogeneous. In contrast, the study of SCA2 provides an opportunity to examine a molecularly homogeneous patient group, in which disease stages can be defined not only based on disease duration and ataxia scores, but also with regard to modulatory effects of mutation size. OBJECTIVE: To examine the presence and progression of sleep pathology in SCA2. METHODS: We analyzed eight patients with disease durations of 3 to 31 years, all with medium size SCA2 expansions (CAG 38 to 49), using clinical scores, sleep interviews, and video-polysomnography (VPSG) recordings. RESULTS: Almost all patients reported good subjective sleep quality and negated incidents of REM behavior disorder (RBD). At early disease stages, however, REM without atonia in four patients' VPSG suggested subclinical RBD. This was accompanied by a consistent reduction of REM density. In three patients at later SCA2 stages, REM sleep was undetectable, whereas slow wave sleep (SWS) was markedly increased at the cost of light sleep. Periodic leg movements, apnea, or hypopnea were not prominent. CONCLUSIONS: Progressive loss of dream recall in spinocerebellar ataxia type 2 was found and correlated with stages of REM more than non-REM pathology in video-polysomnography. These stages correspond to the progressive atrophy from the pons, nigrostriatal projection, and locus ceruleus to the thalamus.

Adolescent↗
PubMed2004

[Diabetic Neuropathy. Diagnosis and Treatment in the Physician's Office].

The most common form of diabetic neuropathy is the distal symmetrical sensorimotor variety. It is all the more likely to develop, the longer diabetes mellitus has been clinically manifest. Clinical signs of this neuropathy include the loss of the Achilles tendon reflex, sensory disorders beginning distally, distal muscle paresis and such signs of autonomic nerve involvement as erectile disorders, disordered bladder emptying, diaphoretic disorders or orthostatic hypotension. The diagnostic work-up should also include a number of laboratory investigations to exclude other causes of neuropathy. The basis of treatment is the earliest detection of diabetes mellitus and the establishment of normoglycemia. The individual manifestations are treated symptomatically. For the treatment of pain, it may become necessary to apply opioids if antidepressants and anticonvulsants fail to prove effective.

Analgesics↗
PubMed2003

Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

A 67-year-old man presented with cognitive deficits, status epilepticus, left hemiparesis, and severe lactic acidosis. Respiratory chain enzyme analysis of skeletal muscle revealed a defect in complex I activity, associated with a heteroplasmic C11777A mutation in the mitochondrial ND4 gene. This case is remarkable not only because of the late onset of symptoms, but because this mutation affects the identical ND4 codon as the G11778A mutation that causes Leber hereditary optic neuropathy.

Acidosis, Lactic↗
PubMed2003

Paenibacillus agarexedens sp. nov., nom. rev., and Paenibacillus agaridevorans sp. nov.

Twenty-two agarolytic, aerobic, spore-forming strains were characterized taxonomically by DNA-DNA reassociation experiments, riboprint analyses, 16S rDNA sequencing and phenetic similarity analyses. Based on riboprint analyses, the strains formed eight ribogroups, six of which contained 2-6 strains and two encompassed single strains. Within the multi-strain ribogroups, similarities ranged from 91-99%. Phylogenetic analyses of representatives of the eight groups by 16S rDNA sequence analysis showed that the strains were affiliated to the genus Paenibacillus, but relatedness to described Paenibacillus species was only moderate (<97.8% sequence similarity). Published DNA-DNA similarity values for most of the agarolytic strains, supplemented with new data, supported the distinctiveness of the eight ribogroups. Intragroup DNA-DNA similarity values ranged from 80 to 104%, while intergroup DNA-DNA similarities were <35%. Based on genomic distinctiveness and supported by the presence of distinguishing phenotypic properties, multi-strain groups 1 and 2 are proposed as novel species, Paenibacillus agarexedens sp. nov., nom. rev. (type strain, DSM 1327T=CIP 107437T) and Paenibacillus agaridevorans sp. nov. (type strain, DSM 1355T=CIP 107436T).

Bacillus↗
PubMed2002

Prospective investigation of autonomic cardiac neuropathy in diabetes mellitus.

Forty-five patients with clinically manifest diabetes mellitus were investigated (25 male, 20 female, 48 +/- 10 yrs, 14 diabetes type 1, 31 type 2). Duration of manifestation was 12.2 +/- 9.7 yrs.Vibration thresholds and thermal thresholds were assessed. Respiratory sinus arrhythmia (RSA) was measured during deep respiration at 6/min. The QTc-interval was assessed according to Bazett's formula. MIBG-SPECT was carried out in all 45 cases. Patients with abnormal MIBI perfusion scintigraphy had previously been excluded from the study. RSA was abnormal in 12/45 patients. The MIBG-SPECT was abnormal in 28/45 cases with dorso-septal lack of activity. No difference was seen between type 1 and 2 diabetics with regard to either vibration and thermal thresholds or RSA and MIBG-SPECT. Abnormal MIBG-SPECT was correlated with vibration threshold and abnormal heart RSA tests but not with abnormality in QTc. The mean QTc-interval was 419 +/- 24 ms (QTc normal in 36, abnormal > or = 440ms in 9). It was longer in female than in male patients. There exists no significant correlation of QTc-interval results with either heart rate variability or MIBG-SPECT. The QTc-interval is not a sensitive parameter of autonomic cardiac denervation.

3-Iodobenzylguanidine↗
PubMed1999

Blink reflex induced by controlled, ballistic mechanical impacts.

The blink reflex was induced by a defined mechanical impact covering the range from light touch to a hard, painful stroke, and by an electrical current. In both modes of stimulation, the R3--but not the R2--thresholds were correlated with subjective pain thresholds, suggesting a connection between R3 and nociceptor activation. However, R3 magnitude did not increase systematically with increasing levels of subjectively felt pain. The R3, induced by painful impacts, habituated quickly and was strongly affected by attention. The functional significance of the R3 component is discussed.

Adult↗
PubMed1999

[Hexosaminidase deficiency as differential spinocerebellar diseases].

Tay-Sachs disease is caused by Hexosaminidase A deficiency. Symptoms of the enzyme deficiency rarely become clinically manifest in adult age; then the course of the disease differs in a wide range. We report on a patient with cerebellar ataxia and lower motor neuron disease. Neurophysiological investigations, neuro-imaging (CT, MRI), and muscle biopsy reveal pathological but nonspecific findings. Determination of hexosaminidase A and B activities leads to the diagnosis. In patients with spinocerebellar ataxia hexosaminidase deficiency has to be considered as a differential diagnosis.

Adult↗
PubMed1999

Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy.

A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.

Adult↗
PubMed1999

Progression of optic neuritis to multiple sclerosis: an 8-year follow-up study.

OBJECTIVE: The relationship between acute monosymptomatic optic neuritis (AON) and subsequent multiple sclerosis (MS) is still doubtful. We investigated the risk of developing MS in patients from North Bavaria, who were suffering from AON. PATIENTS/METHODS: Twenty-nine patients with clinical evidence of AON were included in the study. Initial evaluation included brain resonance imaging (MRI) and a clinical neurological examination. Follow-up examinations were performed after 72-108 months (mean: 96 months) in 26 patients (three patients were lost to follow-up) and consisted of a second complete neurological examination. Diagnosis of MS was established according to the criteria of Poser CM, Paty DW, Scheinberg L. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983:13:227-231. RESULTS: At follow-up, 14 of 26 patients (54%) had converted to clinically definite MS. Nine patients (64%) had developed MS within 2 years after the onset of AON. CONCLUSION: We observed the development of MS in 54% of the 26 investigated AON patients. The exceptional feature of the present study was the relatively long follow-up period of 8 years.

Acute Disease↗
PubMed1999

The electrical and magnetical cerebral responses evoked by electrical stimulation of the esophagus and the location of their cerebral sources.

OBJECTIVES: After electrical stimulation of the esophagus cerebral responses are recordable, their cortical source is under discussion. Brain mapping using electroencephalography recordings demonstrated partially controversial results. Sources of evoked responses can be localized more easily using magnetoencephalography than electroencephalography. METHODS: We examined 22 volunteers by recording electrical somatosensory potentials after electrical stimulation of the esophagus. In 9 of these 22 subjects additional recording of magnetic fields was performed and the sources of the evoked magnetic fields were computed. RESULTS: The evoked potentials after electrical stimulation of the esophagus had a similar latency as the previously published data. The source localization done by magnetoencephalography suggest that first a region of the postcentral gyrus is activated which is temporo-lateral to the primary somatosensory cortex of the pharynx. This region is suggested to be the primary somatosensory region of the esophagus. This source was followed by a source in the parietal operculum thought being part of the secondary somatosensory cortex. Simultaneously the insular cortex was activated pointing to a parallel neuronal pathway to the central autonomic nervous system. CONCLUSION: After electrical stimulation of the esophagus somatosensory cortical areas of the temporal postcentral gyrus and the operculum are activated. In parallel activation of the insular cortex as part of the central autonomic network was found.

Adult↗
PubMed1999

Cardiac sympathetic denervation in early stages of amyotrophic lateral sclerosis demonstrated by 123I-MIBG-SPECT.

Involvement of the autonomic cardiac nervous system in early stages of amyotrophic lateral sclerosis (ALS) was evaluated in 40 patients. I-123-metaiodobenzylguanidine-single photon emission computed tomography (MIBG-SPECT) and heart rate variability (HRV) yielded information about sympathetic and parasympathetic innervation of the heart. MIBG-SPECT is a sensitive diagnostic method for demonstration of early cardiac sympathetic denervation. Both sympathetic and parasympathetic dysfunction was observed in 16 (40%) out of 40 patients. Mean cardiac MIBG uptake as demonstrated by the heart/mediastinum ratio was significantly reduced in all ALS patients in comparison with controls (P<0.01). The global MIBG-SPECT score was clearly abnormal in 29% and slightly abnormal in 22% of patients. HRV was diminished in 6 of 38 patients, 4 of whom having an abnormal MIBG-SPECT score as well. The presented results indicate that ALS patients with mild to moderate impairment may have evidence of postganglionic sympathetic adrenergic cardiac or cardiovagal denervation. To our knowledge, this is the first study indicating possible postganglionic sympathetic denervation in ALS. The original concept of ALS as an isolated degeneration of motor neurons seems to extend to a more widespread understanding of the disease which possibly represents different entities.

3-Iodobenzylguanidine↗
PubMed1999

Amount and fate of egg protein escaping assimilation in the small intestine of humans.

Studies attempting to evaluate protein assimilation in humans have hitherto relied on either ileostomy subjects or intubation techniques. The availability of stable isotope-labeled protein allowed us to determine the amount and fate of dietary protein escaping digestion and absorption in the small intestine of healthy volunteers using noninvasive tracer techniques. Ten healthy volunteers were studied once after ingestion of a cooked test meal, consisting of 25 g of (13)C-, (15)N-, and (2)H-labeled egg protein, and once after ingestion of the same but raw meal. Amounts of 5.73% and 35.10% (P < 0.005) of cooked and raw test meal, respectively, escaped digestion and absorption in the small intestine. A significantly higher percentage of the malabsorbed raw egg protein was recovered in urine as fermentation metabolites. These results 1) confirm that substantial amounts of even easily digestible proteins may escape assimilation in healthy volunteers and 2) further support the hypothesis that the metabolic fate of protein in the colon is affected by the amount of protein made available.

Adult↗