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Biomedical subjects

W Müller-Felber

Publications and source records attributed to W Müller-Felber.

8 recordsLinked to original sources
PubMed1992

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↗
PubMed1992

[Tremor].

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Basal Ganglia↗
PubMed1991

Follow-up study of sensory-motor polyneuropathy in type 1 (insulin-dependent) diabetic subjects after simultaneous pancreas and kidney transplantation and after graft rejection.

The influence of successful simultaneous pancreas and kidney transplantation on peripheral polyneuropathy was investigated in 53 patients for a mean observation period of 40.3 months. Seventeen patients were followed-up for more than 3 years. Symptoms and signs were assessed every 6 months using a standard questionnaire, neurological examination and measurement of sensory and motor nerve conduction velocities. While symptoms of polyneuropathy improved (pain, paraesthesia, cramps, restless-legs) and nerve conduction velocity increased, there was no change of clinical signs (sensation, muscle-force, tendon-reflexes). Following kidney-graft-rejection there was a slight decrease of nerve conduction velocity during the first year, which was not statistically significant. Following pancreas-graft rejection there was no change of nerve conduction velocity during the first year. Comparing the maximum nerve conduction velocity of the patients with pancreas-graft-rejection to the nerve conduction velocities of these patients at the end of the study, there was a statistically significant decrease of 6.5 m/s. In conclusion, we believe that strict normalization of glucose metabolism alters the progressive course of diabetic polyneuropathy. It may be stabilized or partly reversed after successful grafting even in long-term diabetic patients.

Adult↗
PubMed1990

[Pancreas transplantation in Type I diabetic patients].

Successful pancreas transplantation can result in the longterm normalization of glucose metabolism. Since most pancreas recipients already have severe diabetic complications, and the observation period after transplantation is rather short, an assessment of the effect of complete glucose normalization on these diabetic changes is problematic. It has, however, been shown that the development of diabetic nephropathy can be prevented, peripheral microcirculation improved, and autonomic and peripheral neuropathy and retinopathy stabilized. These positive effects are, possibly, in part due to the elimination of uremia, since most patients receive both a pancreas and a kidney. The aim must be to perform pancreas transplantation in an early stage of diabetes, even though remarkable improvements have also been reported in terminal stages of the disease, and the quality of life of these patients has been significantly improved.

Blood Glucose↗
PubMed1990

[Muscular pain].

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Diagnosis, Differential↗
PubMed1989

Metabolic control and effect on secondary complications of diabetes mellitus by pancreatic transplantation.

After successful pancreatic transplantation blood glucose can be normalized without exogenous insulin, although oral and intravenous glucose tolerance remains impaired in 10-45% of the patients. There is no significant deterioration of glucose control with time in most patients. Since most recipients of pancreatic grafts have far advanced secondary diabetic lesions and the observation time after grafting is rather short, the effects of pancreatic transplantation on these complications are difficult to interpret. However, the development of diabetic nephropathy can be prevented, skin microcirculation improves significantly, while autonomic and peripheral neuropathy and diabetic retinopathy remain stable or improve slightly in most patients. But these ameliorations may be in part due to elimination of uraemia, since in almost all patients combined pancreas/kidney transplantations were performed. It is concluded that pancreas grafting probably has to be performed much earlier in the course of diabetes, although the improvement in the quality of life is striking even in the end-stage diabetics studied so far.

Blood Glucose↗