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At least 19 recordsLinked to original sources
PubMed1998

[Genetic diagnosis of periodic disease].

INTRODUCTION: Periodic disease is a hereditary disorder. Until recently its diagnosis was essentially based on clinical criteria. When the clinical picture was incomplete or atypical, it often required elimination of other diagnoses which sometimes involved extensive and useless investigations. Diagnosis was consequently delayed or irrelevant, with the risk of renal failure when the patient was not treated (or tardily treated). CURRENT KNOWLEDGE AND KEY POINTS: Efforts of molecular geneticists have allowed to track and recently to identify the gene (MEFV) responsible for this disease. Today blood sampling enables identification of the causative mutations, sometimes even before the onset of symptoms. FUTURE PROSPECTS AND PROJECTS: Four mutations clustered on exon 10 already account for 74% of cases in patients originating from the most affected populations and presenting with complete clinical picture. Identification of rare mutations should progressively allow improvement of the test sensitivity, especially in patients with a less typical form of the disease.

Chromosomes, Human, Pair 16↗
PubMed2006

Endothelial functions are more severely impaired during active disease period in patients with Behcet's disease.

Oral apthous ulcers and skin lesions are the primary symptoms of Behcet's disease (BD). To date, there is no study to investigate possible associations between these lesions and endothelial functions. We have hypothesized that active BD period with oral and skin lesions might have more deteriorating effect on endothelial functions. Thirty-five patients with BD were registered for the study. Each subject was evaluated two times in both active and inactive disease periods. The subject with at least 30 days of lesion-free period was regarded in the inactive disease period, and the subject with any oral and/or skin lesions was regarded in the active disease period. For the control group, 35 healthy age- and sex-matched subjects were registered. In each subject, flow-mediated dilation (FMD) of the brachial artery after transient ischemia was evaluated in both active and inactive disease periods. High-sensitivity C-reactive protein (hsCRP) values (3.30 +/- 5.76 vs 14.19 +/- 13.55 vs 1.82 +/- 1.31, P < 0.001) and FMD values (13.89 +/- 5.57 vs 8.53 +/- 4.78 vs 15.83 +/- 5.29, P < 0.001) were significantly different among the BD patients in inactive and active disease periods and among control subjects. FMD values in inactive and active disease periods modestly correlated to hsCRP and low-density lipoprotein cholesterol values. Brachial FMD is more prominently impaired in BD patients within the active disease period. BD patients are possibly more vulnerable to cardiovascular manifestations when they are in the active disease period.

Adolescent↗
PubMed2002

[Genetic diagnosis of periodic diseases (familial mediterranean fever or FMF)].

Periodic disease is the prototype of a group of hereditary disorders characterised by recurrent inflammatory attacks. Since the discovery of the causing gene (MEFV) in 1997, three hospital laboratories in France, and around 20 throughout the world, propose a specific genetic test, based on the search of the common MEFV mutations on DNA extracted from a simple blood sample. This strategy allows definitive confirmation of periodic disease if one mutation is detected on each of the two chromosomes (around 30 mutations are reported today), but do not exclude the diagnosis in the other cases (one or no mutation detected). A non-contributive test shows the existence of rare MEFV mutations, or the involvement of another gene responsible for inflammatory hereditary syndrome; important differential diagnosis to be done, because their mode of management may be different from that of periodic disease.

Cytoskeletal Proteins↗
PubMed1990

[Clinico-immunological parallels in children with periodic disease].

Children aged 3 to 15 years afflicted with periodic disease were subjected to clinical and immunological examinations. The role played by derangements of certain components of the immune system in the development and course of periodic disease was outlined. Assay of T lymphocytes and immunoglobulins of the main classes in the blood serum and saliva of children with periodic disease was found to be of the diagnostic and prognostic value. To assess the gravity of periodic disease and to predict it, it is necessary to carry out a comprehensive estimation of the clinical findings and of the data pertaining to humoral, cellular and local immunity.

Adolescent↗
PubMed1979

[Neurologic manifestations of periodic disease].

Results of comprehensive neurological examinations of 4 patients suffering from periodic disease have shown that the latter may be not only a disease entity, but also a syndrome characterizing some organic affections of the brain. The abdominal and other crises of the periodic disease included cerebrovascular disturbances which manifested hemipareses, syncopes, and migraine-like cephalgia. EEG and REG examinations have revealed dysfunction of the mesodiencephalic structures which, probably, underlies the pathogenesis of the periodic disease. The knowledge of the formerly almost unexplored neurological manifestations of the periodic disease will contribute to improvement of the therapy of this rare ailment.

Abdomen↗
PubMed1991

[Clinico-endoscopic data and the status of local immunity in intestinal lesions in patients with periodic disease].

Clinicoendoscopic and immunological evaluation of periodic disease patients shows that the disease-related inflammation of the colon is pathogenetically coupled with secretory IgA hypoproduction and abnormal intestinal eubiotic microflora. These facts should be allowed for when making differential diagnosis between periodic disease and gastrointestinal inflammations.

Adolescent↗
PubMed2002

[Efficacy of operation in the treatment of cervical spondylotic myelopath in different disease periods].

OBJECTIVE: To analyze the efficacy of cervical spondylotic myelopathc (CSM) in different disease periods after operation, and explore the best operating period for CSM treatment. METHODS: Eighty-nine cases of CSM were included in this study. Thirty-eight cases were treated by posterior open-door or twain-door laminoplasty, and 34 cases were treated by anterior "opening window" decompression and auto-iliac bone graft. According to the disease period, 89 cases were classified into group I (< 6 months), group II (> 6 months, < 12 months), and group III (> 12 months). RESULTS: Seventy-two cases were followed up for an average of 18 months (ranged 10 to 60 months). According to the JOA standand, the statistical results of the postoperative improvement rate of showed that the shorter the course of the disease, the better the surgical result. In patients operated on within 6 months of the disease, the surgical result was the best(P < 0.01), and when the course of disease was beyond 12 months, the operative result was obviously poor (P < 0.01). CONCLUSION: Patients with CSM should undergo operation within 6 months with no contraindication. Even if the disease period is beyond 6 months, patients also should be operated on as soon as possible.

Adult↗
PubMed1993

[The diagnosis and treatment procedure in periodic disease].

The main forms of periodic disease are presented, clinical cases with the different forms are described. A special attention is paid to the problems of diagnosis and treatment in the emergency surgery of the abdominal organs is abdominal form of the disease.

Adult↗
PubMed1987

[Successful therapeutic effect on periodic disease with the intermittent use of colchicine].

The continuous application of colchicine reduces considerably the incidence of the paroxysms in patients with periodic disease. A patient is described, a Bulgarian, with periodic disease with a duration of 40 years (family Mediterranean fever), successfully treated with intermittent application of colchicine according to a schedule for the last 3 years. The evolution of the clinical manifestations was followed up as well as the absence of effect by the corticosteroid therapy applied before. The intermittent application of colchicine, in this case, prevents totally the paroxysms with high temperature and pain in abdomen, chest and joints with a considerable smaller amount of the drug applied. The intermittent application of colchicine should first be tried in the treatment of patients with periodic diseases.

Colchicine↗