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D Pongratz

Publications and source records attributed to D Pongratz.

At least 73 records · Page 4Linked to original sources
PubMed1999

Gastrointestinal dysfunction in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, characterized by progressive loss of motor neurons. However, ALS has been recognized to involve several non-motor systems. Subclinical involvement of the autonomic system (i.e. of cardial or sudomotor regulation) has been described in ALS. Gastrointestinal motor dysfunction can occur in amyotrophic lateral sclerosis, even if patients do not complain of gastrointestinal symptoms. New techniques in non-invasive evaluation of gastrointestinal function showed delayed gastric emptying and delayed colonic transit times in patients with ALS.

Adult↗
PubMed1999

Extracorporeal antibody elimination in neuroimmunological diseases.

Extracorporeal procedures for the elimination of autoantibodies are an important therapeutic option in various neuroimmunological diseases, especially those with neuromuscular involvement. Recent advances with the development of selective apheresis methods have given extracorporeal therapeutic procedures a new perspective. In this article, we review the therapeutic use of plasma exchange and immunoadsorption therapy in different neuroimmunological diseases.

Demyelinating Diseases↗
PubMed1999

Neurophysiological testing in long-standing cystinosis.

Neurophysiological data of two brothers with long-standing cystinosis are presented. Both patients showed a distally symmetrical myopathy affecting the arms more than the legs. Myopathy occurred before the onset of polyneuropathy or signs of central nervous involvement.

Adult↗
PubMed1998

Tenascin is a useful marker in the diagnosis of inflammatory myopathies.

The expression of tenascin, NCAM, vimentin and HSP-70 was examined in 15 patients with dermatomyositis and 12 patients with polymyositis. All biopsies with dermatomyositis showed a confluent network of tenascin expression in the extracellular space. This network surrounded numerous fibers (39 up to 320). Tenascin expression preceded other histological and immunohistochemical signs of dermatomyositis such as the expression of N-CAM and vimentin and the appearance of perifascicular atrophy and inflammatory response. Tenascin expression was found in 3 biopsies where microtubular inclusions in the arteriolar walls were absent. In contrast, tenascin expression was confined to the surroundings of necrotic fibers also expressing vimentin or N-CAM in polymyositis. In general, tenascin was found in the vicinity of inflammatory cells, only. These findings suggest that tenascin is induced by ischemic stress in dermatomyositis. Widespread tenascin expression in a fascicular distribution is a specific marker, if an inflammatory myopathy has been proven by standard techniques. In some cases, tenascin staining might confirm the clinical diagnosis of dermatomyositis, where other histological findings are inconclusive.

Adolescent↗
PubMed1998

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously identified missense mutation Gly204Ser. In another patient, we identified a novel missense mutation Gln665Glu and a single-base deletion delA in Lys753. One patient of Turkish ancestry carried a newly identified homozygous A-to-G transition (ATG to GTG) abolishing the translation initiation codon of the myophosphorylase gene. These results suggest that Arg49Stop also is the most common genetic error associated with myophosphorylase deficiency in the German population. Our findings further demonstrate molecular heterogeneity of myophosphorylase deficiency among the clinically homogeneous patients we studied.

Adolescent↗
PubMed1998

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

We report seven unrelated families with mitochondrial tRNA(Ser(UCN)) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive myopathy, ragged-red fibers, lactic acidosis, and deficiency of respiratory chain complexes I and IV. This mutation presumably affects the tertiary tRNA(Ser(UCN)) dihydrouridine interaction. Mutations 7472 insC and T7512C, found in three and two families, respectively, are associated with myoclonus epilepsy, deafness, ataxia, cognitive impairment, and complex IV deficiency. No ragged-red fibers or ultrastructural abnormalities are seen. It is interesting that 6 of our 7 index patients are apparently homoplasmic, indicating a minor pathogenetic power of the tRNA(Ser(UCN)) mutations.

Adolescent↗
PubMed1998

Drug-induced systemic lupus erythematosus after 8 years of treatment with carbamazepine.

This is the report of a late-onset carbamazepine-induced systemic lupus erythematosus in a 34-year-old patient who had been treated with daily carbamazepine for 8 years because of complex partial seizures. When carbamazepine was discontinued, symptoms rapidly improved and antinuclear antibodies disappeared. So far, few cases have been reported of carbamazepine-induced lupus erythematosus within months after the start of treatment. This is the first case report about carbamazepine-induced systemic lupus erythematosus with serological confirmation after years of treatment without side effects.

Adult↗
PubMed1998

Rapidly progredient scoliosis associated with multicore disease.

Multicore disease is a rare congenital myopathy that normally stops or makes slow progress. It starts with delayed motor development and frequent falls. Especially the proximal muscles are involved. Other symptoms include contractures of joints, clubfoot, high arched palate, chest deformities, involvement of eye-muscle, cardiac abnormalities, hyperlordosis and scoliosis that normally does not require surgery. We report a rare case of advanced scoliosis in multicore disease requiring operative treatment in a 15-year-old girl. In this case the scoliosis took a rapidly progredient course in puberty close to the end of skeletal growth. A dorsal spondylodesis with USS instrumentation from T9 to L3 was performed. A significant reduction of the scoliosis was obtained. Scoliosis in multicore disease may take a rapidly progredient course. Frequent checks will lead to the initiation of surgical treatment in time.

Actins↗
PubMed1997

Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.

Congenital myasthenic syndromes (CMS) are a group of rare gentic disorders in which neuromuscular transmission is compromised by a variety of mechanisms, other than autoimmunity. Recently, substantial progress has been made by the identification of mutations in acetylcholine receptor (AChR) genes which cause CMS. We report on the clinical and genetic analysis of 18 independent CMS patients. All patients were clinically classified as sporadic cases of CMS (group III according to ENMC consensus). In order to investigate the prevalence of AChR mutations in this group we analyzed structural domains of the AChR genes at strategically important sites - the channel pore-lining regions (M2 domains) of the alpha, beta and epsilon subunits, and the extracellular domain close the acetylcholine (ACh) binding site. All patients showed wild-type sequence in these regions, mutations were not detected. Therefore, we conclude, that point mutations in domains which are known to cause slow channel congenital myasthenic syndromes (SCCMS) are rare in group III-patients in Germany. Determining the genetic defects causing CMS may have implications for diagnosis and genetic counseling of CMS patients. Moreover, this may be important for the therapeutic management of CMS as some patients may profit form quinidine sulfate. Therefore, further efforts will be undertaken to elucidate the underlying defects of CMS.

Adolescent↗
PubMed1997

Delayed colonic transit times in amyotrophic lateral sclerosis assessed with radio-opaque markers.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, characterized by progressive loss of motor neurons. However, ALS has been recognized to involve several non-motor systems, subclinically. Cardiac and sudomotor autonomic involvement in ALS has been described. Recently, delayed gastric emptying was reported. The aim of this study was to assess colonic transit time in patients with ALS. Therefore, measurement of total and segmental colonic transit times using radio-opaque markers was performed in 14 patients with ALS and 14 healthy age-matched volunteers. Multiple-ingestion, single-radiograph technique was used. Segmental and colonic transit times were calculated from the number of retained markers. Nine of 14 patients with ALS showed markedly delayed colonic transit times if compared to healthy controls. Colonic transit in ALS patients was significantly delayed in the right and left colon; the rectosigmoid transit did not show major delay. The colonic transit times did not correlate with bulbar involvement, Norris score, walking disability or duration of the disease. In summary, colonic dysfunction in ALS may be a result of inactivity or inadequate fiber intake. However, it also may represent a gastrointestinal autonomic involvement due to nerval degeneration. Considering ALS as a multisystem disorder including the autonomic nervous system may have implications for research into pathogenesis and therapy of neurodegenerative disease.

Abdominal Pain↗
PubMed1997

[Recommendations of Bavarian Muscle Centers of the German Neuromuscular Disease Society for home ventilation of neuromuscular diseases of adult patients].

During recent years home ventilation has been shown to be useful for a growing number of patients with neuromuscular diseases and respiratory insufficiency caused by weakness of the respiratory muscles. Despite its technical simplicity, home ventilation leads to a number of social, ethical, medical and infrastructural problems. This consensus paper discusses the special situation of patients with neuromuscular diseases in home ventilation and describes the current thinking in the following topics: (1) definition of home ventilation; (2) aims of home ventilation; (3) indications and preconditions of home ventilation; (4) techniques and forms of home ventilatory support; (5) preparation for and practical questions of home ventilation; (6) stopping home ventilation.

Adult↗
PubMed1996

Differential expression of perforin in muscle-infiltrating T cells in polymyositis and dermatomyositis.

Polymyositis (PM) and dermatomyositis (DM) are the prototypical inflammatory diseases of skeletal muscle. In PM, CD8+ T cells invade and destroy muscle fibers, whereas humoral effector mechanisms prevail in DM. We studied the expression of the cytotoxic mediator perforin in inflammatory cells in PM and DM muscle by semiquantitative PCR, immunohistochemistry and confocal laser microscopy. Similar levels of perforin mRNA were expressed in PM and DM, and abundant perforin-expressing CD3+CD8+ and CD3+ CD4+ T cells were observed in both diseases. However, there was a striking difference in the intracellular localization of perforin. In DM, perforin was distributed randomly in the cytoplasm of the inflammatory T cells. In contrast, 43% of the CD8+ T cells that contacted a muscle fiber in PM showed perforin located vectorially towards the target muscle fiber. The results suggest (a) that the random distribution of perforin in the cytoplasm of muscle-infiltrating T cells observed in DM reflects nonspecific activation, and (b) that the vectorial orientation observed only in PM reflects the specific recognition via the T cell receptor of an antigen on the muscle fiber surface, pointing to a perforin- and secretion-dependent mechanism of muscle fiber injury.

Base Sequence↗
PubMed1996

Annexin VII relocalization as a result of dystrophin deficiency.

Annexin VII (synexin) is a member of the annexin family of proteins, which are characterized by Ca(2+)-dependent binding to phospholipids. In normal skeletal muscle annexin VII is located preferentially at the plasma membrane and the t-tubule system [Selbert et al. (1995) J. Cell. Sci. 108, 85-95]. Here we have analyzed the distribution of annexin VII in muscle disorders in which the Ca2+ regulation is affected. A remarkable difference was observed in muscle specimens from patients suffering from Duchenne muscular dystrophy and also in muscle from the MDX mouse where annexin VII was gradually released from the sarcolemmal membrane into the cytosol and into the extracellular space during progression of the disease. Hypercontracted muscle fibers positive in Ca2+ staining were devoid of cytosolic annexin VII. Annexins IV and VI were similarly released into the extracellular space. Whereas normal skeletal muscle showed specifically the 51-kDa annexin VII isoform, in dystrophic muscle different ratios of the 51-kDa and the muscle-atypic 47-kDa isoforms were observed. The potential of annexin VII to serve as a tool with which cellular Ca2+ levels can be studied and different muscular disorders classified is discussed.

Animals↗
PubMed1995

Electrophysiological characterization of nicotinic receptors of aneurally grown human myotubes.

It seems necessary to characterize electrophysiological properties of human nicotinic acetylcholine receptors (nAChR) to obtain reference values for the study of diseased muscles. We therefore investigated nAChRs in aneurally grown human myotubes using the patch-clamp technique. Pulses of acetylcholine (ACh) were applied to outside-out patches with a fast application system. The peak and the rise time of the current elicited by pulses of various concentrations of ACh were evaluated. The results were interpreted using the circular reaction scheme developed recently for the nAChR of embryonic mouse muscle. In addition, the burst duration and the slope conductance of the ACh activated channel were evaluated.

Acetylcholine↗
PubMed1995

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy.

BACKGROUND: Previous investigations in three families have shown that proximal myotonic myopathy (PROMM) is not linked to the gene loci for myotonic dystrophy (DM) or to the loci of the genes of the muscle sodium and chloride channels associated with other myotonic disorders. It is important to extend our clinical knowledge of this interesting new disorder by studying other families. PATIENTS: Thirty-five patients in 14 new families; 27 patients were examined. METHODS: Clinical examination, electromyography, muscle biopsy, DNA analysis. RESULTS: The following findings were noted: proximal without distal weakness of the legs (n = 21); myotonia on electromyograms (n = 23); intermittent clinical myotonia (n = 17); cataracts (n = 24) and a number of the cataracts were identical to the type in DM (n = 11); and peculiar muscle pain (n = 14). A few patients had cardiac arrhythmias, and others had elevations in the concentrations of serum gamma-glutamyltransferase. None of the patients had significant muscle atrophy. Muscle biopsy specimens showed mild myopathic changes. All patients had normal trinucleotide (cytosine, thymine, and guanine) repeat size of the DM gene in leukocyte DNA. Muscle DNA probes from three patients showed findings identical to those of their leukocyte DNA probes. CONCLUSIONS: Proximal myotonic myopathy is a new genetic disorder similar to, but distinct from, DM. Patients suspected of having DM but with negative DNA studies may have PROMM. The gene defect for PROMM awaits discovery. Because of the similarities between PROMM and DM, this discovery will not only shed light on the pathomechanism of PROMM, but it may also increase our understanding of DM.

Adult↗