Upregulation of utrophin in the myocardium of a carrier of Duchenne muscular dystrophy.
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Biopsy↗
Biomedical subjects
W Müller-Felber
Publications and source records attributed to W Müller-Felber.
Duct occlusion-induced vascularized islet grafts are not associated with progressive long-term dysfunction.
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Blood Glucose↗
Myofibrillogenesis in primary tissue cultures of adult human skeletal muscle: expression of desmin, titin, and nebulin.
To investigate the in vitro development of myofibrils in skeletal muscle cells derived from adult human muscle biopsies, immunohistochemical analysis was performed using monoclonal antibodies against desmin, titin, and nebulin. Diffuse desmin reactivity was detected 48 h after plating in about 60% of all mononucleated cells. This supports the use of desmin as a marker for undifferentiated rhabdomyosarcomas in man. Titin was visible from day 4 onwards, while nebulin was not found in mononucleated cells. After 1 week polynucleated myotubes appeared, and grew up to 30 days. Desmin was distributed diffusely throughout the cytoplasm until day 21, when the pattern became patchy. Titin began to be organized in a predominantly longitudinal orientation at day 15, while nebulin, which appeared for the first time in fusing myoblasts on the fifth to the seventh day, was almost immediately organized in a dotted longitudinal pattern, which became a Z line connected striation in matured myotubes.
Cells, Cultured↗
[Rhabdomyolysis in neuroleptic therapy: an abortive malignant neuroleptic syndrome?].
We report on the case of a 24 year old female patient, who, at first developed during 8 weeks of neuroleptic therapy parkinsonism and then, after improvement of psychopathology an acute rhabdomyolysis. Hyper-Ck-aemia up to 11,340 U/l was observed. Laboratory parameters normalized shortly after neuroleptics had been withdrawn and no further complications followed. Symptomatology is discussed with special reference to the possibility of an abortive malignant neuroleptic syndrome.
Adult↗
The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9.
The clinical features of Friedreich's ataxia are described and reevaluated in a group of 14 German patients from 9 independent families. In contrast to previous studies, demonstration of linkage to the Friedreich's ataxia locus (FRDA) on chromosome 9p allowed confirmation of the genetic homogeneity of the disease in the patients under study. Marked variability within families was observed for age of onset of the disease (4-24 years) and for age of becoming wheelchair bound (17-37 years). Electrocardiographic changes were present in all and echocardiographic changes in 50% of the patients. Pathological changes of visual evoked potentials were detected in only 50% of the patients while brainstem auditory evoked potentials and somatosensory evoked potentials were always abnormal.
Adolescent↗
Heterozygotic gene expression in endomyocardial biopsies: a new diagnostic tool confirms the Duchenne carrier status.
Identification of the defective gene and the absent gene product dystrophin can substantiate the clinical evidence for manifesting X-linked Duchenne type muscular dystrophy (DMD). It is not always possible, however, to rule out definitely a clinically asymptomatic carrier status in question, since even in the proven carrier DNA analysis is often inconclusive, and multinucleated skeletal muscle fibers express a basically normal membrane dystrophin. To substantiate the value of endomyocardial biopsy as a new tool for detection of the DMD carrier status we examined an endomyocardial biopsy of a volunteer who met the clinical criteria of a DMD carrier. Dystrophin immunohistochemistry and western blot of her skeletal muscle biopsy were inconclusive, and polymerase chain reaction and cDNA analysis failed to locate directly the X-chromosomal defect. We observed a clearcut mosaic of dystrophin-positive and -negative mononucleated cardiac muscle cells, reflecting a heterozygote carrier status in her endomyocardial biopsy, whereas 20 controls were uniformely positive. The incidence of DMD (1:3000 males) and especially the 30% spontaneous mutation rate, still the major pitfall in DNA analysis, show the need for an additional diagnostic tool.
Adult↗
High incidence of carpal tunnel syndrome in diabetic patients after combined pancreas and kidney transplantation.
Fifty-eight patients with long-standing type 1 (insulin-dependent) diabetes were studied prospectively after combined pancreas and kidney transplantation for a mean observation period of 47.9 months (range 17-116 months). Thirty-three per cent of these patients (19/58) developed carpal tunnel syndrome after a mean interval of 1.7 years (range 3 months-5 years). This rate is about twice that in type 1 diabetic patients. The manifestation of carpal tunnel syndrome was not significantly associated with worsening of diabetic polyneuropathy or with deterioration of kidney or pancreas function. In all but one patient symptoms improved without surgical intervention. This study suggests that patients after combined pancreas and kidney transplantation have an increased risk of carpal tunnel syndrome for which the etiology and pathophysiology are unknown. In most patients no surgical intervention is necessary.
Adult↗
Cross-sectional study of peripheral microcirculation in diabetic patients with microangiopathy: influence of pancreatic and kidney transplantation.
Diabetic vascular lesions and peripheral autonomic neuropathy are both closely linked to long-term metabolic control of diabetes. Transcutaneous oxygen tension (PtcO2) measurements were made to elucidate whether autonomic neuropathy disturbs the cutaneous microcirculatory blood flow, and whether long-term glucose normalization ameliorates such impairment. Twenty-eight type 1 (insulin-dependent) diabetic patients in whom clinically significant macroangiopathy had been excluded by angiography were studied, subdivided into group A (n = 14; before simultaneous pancreas/kidney transplantation (SPKT); mean age 35 years, range 22-51 years; mean duration of diabetes 24 years, (range 15-32) years and group B (n = 14; mean 31 months, range 2-101 months, after successful SPKT; mean age 35 years, range 19-56 years; mean duration of diabetes 22 years, range 14-29 years). On addition there was a group (group C) of age- and sex-matched healthy control subjects (n = 14; mean age 35 years, range 23-62 years). PtcO2 measurements included basal recordings at 44 degrees C on the leg and the foot, functional recordings at 44 degrees C after arterial occlusion of the limb for 4 min, measurements during breathing 5 l oxygen per minute and finally while standing up (stand up dP20/dt). All subjects underwent extensive cardiac autonomic testing. In this cross-sectional study the recordings of basal values and of the functional parameters after arterial occlusion and during breathing oxygen did not differ significantly between groups A, B and C.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Borrelia burgdorferi myositis: report of eight patients.
Myositis is a rare manifestation of Lyme disease of unknown pathogenesis. This study describes the course of disease in eight patients with Lyme disease, aged 37-70 years, all of whom were suffering from histologically proven myositis. The clinical, electrophysiological, and myopathological findings are reported. One patient showed signs and symptoms of myositis of all limbs. In six patients myositis was localized in the vicinity of skin lesions, arthritis or neuropathy caused by Borrelia burgdorferi. In another patient suffering from pronounced muscle weakness of the legs and cardiac arrest, inflammation of the myocardium, the conducting system and skeletal muscles was revealed at autopsy. Muscle biopsy revealed lymphoplasmocellular infiltrates combined with few fibre degenerations in three patients. The lymphoplasmocellular infiltrates were found predominantly in the vicinity of small vessels. Several spirochetes were stained in six of seven muscle biopsy samples by means of the immunogold-silver technique. Culturing of B. Burgdorferi from the muscle biopsy samples was, however, unsuccessful. Antibiotic treatment succeeded in curing the myositis in four of six patients. In one patients signs and symptoms improved. One patient died from cardiac arrest caused by myocarditis and Guillain-Barré syndrome. The outcome is unknown in one patient. Clinical and myopathological findings indicate that Lyme myositis can be caused either by local spreading of B. burgdorferi or an unknown antigen or toxin from adjacent tissues or haematogenously.
Adult↗
Fibre type specific expression of Leu19-antigen and N-CAM in skeletal muscle in various stages after experimental denervation.
Leu-19 antigen, which seems to be identical with neural cell adhesion molecule (N-CAM), plays a major role in the innervation of muscle cells, and in adult muscle appears after denervation and during regeneration of muscle fibres, where it acts as part of a signalling system increasing the probability of re-innervation. This combined enzyme-histochemical and immunohistochemical study examined whether this signalling process was regulated in a uniform or differential pattern for type 1 and type 2 muscle fibres. The subscapular nerve of 18 rabbits was transsected with subsequent complete denervation of the supraspinatus muscle. Leu-19 and N-CAM immunohistochemistry was performed 2 to 64 days after surgery. Whereas in normal muscle there are virtually no Leu-19/N-CAM positive muscle fibres; from day 2 after denervation an increasing proportion of fibres expressed Leu-19/N-CAM, prior to any neurogenic atrophy. In the early stage of denervation Leu19/N-CAM expression was confined to type 1 fibres. After 11 days nearly all fibres were Leu19/N-CAM positive irrespective of their fibre type. Sixty-four days after denervation type 1 fibres became Leu19/N-CAM negative, while atrophic type 2 fibres showed intensive staining. Thus, expression of Leu-19 antigenicity is differently regulated in both fibre types.
Animals↗
Muscular ultrasound in idiopathic inflammatory myopathies of adults.
To evaluate the value of myosonography in inflammatory myopathies ultrasound of skeletal muscles was performed in 70 patients, aged 21-82 years, suffering from histologically proven polymyositis (n = 30), dermatomyositis (n = 18), granulomatous myositis (n = 9), inclusion body myositis (n = 13), and in 102 control persons. The sensitivity of muscle ultrasound in detecting histopathologically proven disease (82.9%) was not significantly different from electromyography (92.4%) or serum creatine kinase activity (68.7%). The positive predictive value of ultrasound was 95.1%, the negative predictive value 89.2%, and the accuracy 91.3%. The different types of inflammatory myopathies presented with typical, but not specific ultrasound features. Polymyositis showed atrophy and increased echointensity predominantly of lower extremity muscles, whereas in dermatomyositis clear muscle atrophy was rare and echointensities were highest in forearm muscles. Echointensities were lower in dermatomyositis compared to poly- and granulomatous myositis. Granulomatous myositis was characterized by the highest echointensities and a tendency towards muscle hypertrophy. Severe muscle atrophy was the most impressive feature in the majority of patients with inclusion body myositis. Comparison of ultrasound and histopathological findings indicates that muscle lipomatosis has a much greater impact on muscular echointensity than does muscle fibrosis. Ultrasound of myositis improved clinical assessment of patients by supplying differential diagnostic clues based on precise muscle size measurements and identification of mesenchymal abnormalities, particularly muscle lipomatosis.
Adult↗
Myositis in Lyme borreliosis: an immunohistochemical study of seven patients.
Myositis is a rare complication of Lyme disease. In order to get information about the pathogenesis of this disorder, muscle specimens of 7 patients suffering from myositis as a manifestation of Lyme borreliosis were examined by immunohistology. Lyme spirochetes could be found in muscle biopsies of 6 patients. Infiltrates consisted mainly of macrophages and T helper/inducer cells. The T4/T8 ratio was 1.7 in the endomysium and 2.1 in the perimysium. Increased expression of MHC-I molecules by several muscle fibers was observed in 2 subjects only. No MHC-II molecules were expressed by muscle fibers. Lymphocytes expressing the interleukin-2 receptor were detected in 2 patients. Leu-15+ and Leu-11+ cells were found only to a slight extent in 2 patients. In conclusion the immunohistochemical findings in myositis due to Lyme borreliosis are different from other manifestations of this disease, and also from other forms of myositis.
Adult↗
Diabetic neuropathy 3 years after successful pancreas and kidney transplantation.
Twenty-seven patients with successful transplantation and a control group of 14 patients with early rejection of the pancreas graft but functioning kidney graft were examined in a prospective study for 3 yr. Before transplantation, all patients had long-standing type I diabetes with advanced secondary complications, including end-stage diabetic nephropathy. After transplantation in the patients of both groups, kidney function was almost normal. Mean HbA1 levels were normal in the group with pancreas graft survival. In the control group, HbA1 levels were, on average, 1.5% higher compared with the group with pancreas survival (P = 0.00005). After 3 yr, the patients with functioning pancreas graft showed fewer symptoms (mean difference 1.0 in a symptom score ranging from 0 to 16, P = 0.004) compared with the control group. No statistically significant difference between both groups concerning clinical signs of polyneuropathy could be observed. In the pancreas and kidney transplantation group, peroneal and median nerve conduction velocities increased 7.2 m/s (P < 0.01) and 3.5 m/s (P < 0.05), respectively, whereas no increase was registered in the control group. The change of median and sural sensory nerve conduction velocities, peroneal and median compound muscle action potentials, and sural and median sensory action potentials was insignificant. In conclusion, although the improvement of clinical symptoms and neurophysiological signs of polyneuropathy was modest in the pancreas and kidney transplantation group, our data suggest that successful pancreas transplantation is able not only to halt the progression of diabetic polyneuropathy but also to improve it to some extent even at a far advanced stage.
Action Potentials↗
Combined ultrasonographic and neurographic examination: a new technique to evaluate phrenic nerve function.
In this report a new technique for simultaneous assessment of the electrical and mechanical properties of the diaphragm is presented. The phrenic nerve of 9 healthy persons was stimulated at the neck using magnetic stimulation. Electrical activity was recorded using chest surface electrodes. The mechanical function of the diaphragm was evaluated by performing combined B- and M-mode ultrasonographic examination. The data show that this method helps to distinguish the diaphragm muscle compound action potential from electrical activity derived from neighboring muscles activated by the brachial plexus. Furthermore, it provides a non-invasive tool which can easily be used in clinical practice to study the mechanical properties of the diaphragm.
Action Potentials↗
Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations.
Malignant hyperthermia (MH) is a pharmacogenetic myopathy triggered by a variety of anaesthetic agents and muscle relaxants. In humans, susceptibility to MH is inherited as an autosomal dominant trait, and susceptible patients do not show a clinically relevant myopathy unless having suffered from a MH crisis. Homozygosity for the MHS trait is thought to be an uncommon finding, and so far only a few cases of patients suggested to be homozygous for MH on the basis of pedigree information were reported and described as having a more severe form of this condition resulting in clinical symptoms also in the absence of triggering agents. We report clinical findings in a patient with chronic myopathy beginning at the age of 2 yr and associated with a number of unique features, the most important being a family history of MHS present in both parents. She became symptomatic with marked muscular weakness and elevated serum CK levels. A muscle biopsy showed a distinct enlargement and increase of muscle mitochondria. In the in vitro contracture test the patient's muscle responded with unusually high contractures already at basal levels of triggering agents indicating a particularly severe MHS condition. DNA markers for the MHS1 locus, described previously on chromosome 19q12-13.2 in Irish and Canadian pedigrees, could not be used to confirm her homozygous state because our molecular genetic studies had previously excluded the MHS trait in this pedigree from this locus.(ABSTRACT TRUNCATED AT 250 WORDS)
Child, Preschool↗
[A paranoid syndrome after discontinuing tuberculostatics].
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Antitubercular Agents↗