Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

Familial Mediterranean fever (FMF) is a well-described monogenic autosomal recessive disorder with highest occurrence in the Mediterranean region. In this article, we describe the experience of a center in the Czech Republic that follows four families with members bearing mutations in MEFV gene without provable ancestry from the Mediterranean region. We also discuss the clinical picture of the heterozygous variants that were present in our cohort. The typical clinical presentation in heterozygotes corresponds to data described in the international literature. The possibility of combination of mutations and/or polymorphisms in different genes and epigenetic or environmental influences on the clinical symptoms are taken into account.

[Incidence and developmental interdependence of peripheral nerve disorders in type 1 diabetics]. / Výskyt a závislosti vzniku postizení periferní nervové soustavy u diabetu I. typu.

In 1987-1988 the authors subjected to comprehensive neurological examination 79 type I diabetics. The group comprised subjects under 60 years and patients with other possible neurotoxic influences were eliminated. After a detailed clinical examination in 75.9% diabetics clinical signs of affection of the peripheral nervous system were revealed, incl. 45.6% clinical diabetic neuropathies were detected. In all instances it was symmetrical distal sensory or sensomotor polyneuropathy and in four instances moreover the carpal tunnel syndrome was detected. The most frequent neurological disorder was panhypaesthesia on the acra of the lower extremities. The most frequent subjective complaint were paraesthesias of the feet and subsequent cramps. The authors investigated moreover parameters of the long-term compensation of diabetes, the duration of diabetes and the biological age of diabetics. They assessed the statistical significance of these parameters for the development of diabetic neuropathy which was proved only for the parameter of the duration of the disease and the biological age of type I diabetics (p less than 0.05).

[Incidence and developmental interdependence of peripheral nerve disorders in type 2 diabetics]. / Výskyt a závislosti vzniku postizení periferní nervové soustavy u diabetiku II. typu.

In 1987-1988 160 type 2 diabetics, dispensarized in diabetological out-patient departments of the medical clinic of the Institute for Postgraduate training were subjected to neurological examinations. The selection of the group was governed by an effort to reduce to a minimum the association of other neurotoxic influences. The group therefore comprised subjects under 60 years of age; diabetics with other diseases with a possible neurotoxic action, drug abuse, alcohol abuse, etc. were eliminated. After a detailed neurological examination signs of affection of the peripheral nervous system were detected in 87.5%, clinically manifest diabetic neuropathy was found in 78 diabetics (48.75%); 12 had moreover mononeuropathy of the median nerve. The clinical picture was uniform: impaired perception of vibrations on the acra of the lower extremities with ascendent propagation, reduction to disappearance tendinous-muscular reflexes on the lower extremities. Subjectively more frequently cramps of the feet than paraesthesias were reported. The authors revealed that long-term compensation of diabetes, the duration of diabetes and the biological age of the diabetics were statistically significant for the manifestation of diabetic neuropathy. This significance was proved for the factor of biological age (p less than 0.05); there was also a significant correlation between the long-term state of compensation of type 2 diabetes and the manifestation of neuropathy (p = 0.06).