PubMed Health⌕ Search

Biomedical subjects

Fritz Zimprich

Publications and source records attributed to Fritz Zimprich.

2 recordsLinked to original sources

[Malignant hyperthermia].

Malignant hyperthermia is an autosomal dominant disorder of the skeletal muscle that predisposes affected individuals to a life-threatening hypermetabolic reaction in response to volatile anaesthetics and depolarizing muscle relaxants. The underlying heterogeneous genetic defects are mainly point mutations within the ryanodine receptor gene of the sarcoplasmic reticulum. Following the introduction of efficient diagnostic and therapeutic tools--the in vitro contracture test and intravenous treatment with dantrolene--a dramatic decline in mortality rates has been observed. The association of malignant hyperthermia-like reactions with other neuromuscular disorders requires the collaboration of several clinical disciplines to achieve a timely recognition of this still life-threatening disorder.

Adult↗

A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy.

The prodynorphin gene (PDYN) encoding the anticonvulsant peptide dynorphin is a strong candidate for a seizure suppressor gene and thus a possible modulator of susceptibility to temporal lobe epilepsy. We performed a case control association study in 155 patients with nonlesional temporal lobe epilepsy and 202 controls and found that PDYN promotor low-expression L-alleles confer an increased risk for temporal lobe epilepsy in patients with a family history for seizures. Irrespective of the familial background, L-homozygotes display a higher risk for secondarily generalized seizures and status epilepticus.

Enkephalins↗