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Biomedical subjects

F Yalcinkaya

Publications and source records attributed to F Yalcinkaya.

9 recordsLinked to original sources
PubMed2001

Is the Ala138Gly alteration of MEFV gene important for amyloidosis?

Progressive systemic amyloidosis is the most important complication of familial Mediterranean fever that inevitably leads to chronic renal failure. Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis. On the contrary, our data revealed that there was no dominance of any MEFV mutation in relation to amyloidosis. The difference between our mutation data and others led us to study a polymorphism in Turkish population that might be a risk factor for the occurrence of amyloidosis. As some of the previously reported exonic polymorphisms in other disease states found to increase the genetic susceptibility, we aimed to study Ala138Gly of the MEFV gene. Our study group consisted of 124 FMF patients, of which 47 had amyloidosis. Eighty-one individuals without any familial history of FMF were included as control group. There was no statistically significant difference between healthy controls and FMF patients for the Ala138Gly polymorphism (p=0.9). However, when FMF/amyloidosis patients (n:47) were taken as another group, the difference was significant (p= 0.01) indicating that the carriers of 138Gly are more prone to amyloidosis [odds ratio 3.1 (CI 95% 1.57-5.75)].

Alanine↗
PubMed2000

MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.

Familial Mediterranean fever (FMF) is a recessive inherited disorder affecting Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and several disease-associated mutations have been described. We have evaluated seven MEFV mutations in 460 chromosomes of 230 unrelated patients with FMF living in Turkey, using PCR methods. The M694V allele accounted for 43.5% of the alleles studied and 19.1% of the patients were homozygous. The M680I, V726A and M694I mutations were responsible for 12.0%, 11.1% and 2.8% of the patients respectively. R761H, K695R and E148Q were rarely encountered. Two thirds of the disease alleles were attributed to three common mutations: M694V, M680V and V726A, but only 54% of the patients carried one or two of the three mutations. Adding the four rarer mutations increased these figures to 72% and 60%, respectively. Altogether, 79.6% of the patients bore at least one of the main mutations, and 84.3% carried at least one of the seven mutations studied. The 28 patients suffering also from amyloidosis carried at least one of five mutations, M694V being the most common. These results suggest that the origin of FMF in Turkey is heterogenous, all common mutations are associated with amyloidosis. Further, rapid and accurate molecular diagnosis of FMF is feasible in most cases.

Cytoskeletal Proteins↗
PubMed1997

Ag/AgCl/Cl- coated silver-stripe reference electrode.

This paper introduces a new type of miniaturized coated silver-stripe reference electrode without internal solution for single use and intends to give in detail the method used to prepare a Ag/AgCl/Cl- miniaturized coated silver-stripe reference electrode of a second kind which acts as a half-cell of a sensor system measuring Ca2+ ion activity in human blood as well as the difficulties encountered. The technique described is a cost-effective and time saving method for biomedical measurement.

Biomedical Engineering↗
PubMed1995

Infantile acute hemorrhagic edema: a variant of leukocytoclastic vasculitis.

Infantile acute hemorrhagic edema (IAHE) is a leukocytoclastic vasculitis that is confined to the skin without visceral involvement. Edema and purpuric lesions characterize the disease. The disorder has a dramatic onset, with a short, benign course and spontaneous resolution within several weeks. The clinical similarities between IAHE and Henoch-Shönlein purpura have been discussed in the literature. We report three infants with IAHE and discuss the clinical, laboratory, and histopathologic features of the disease. We suggest that it should be regarded as a separate entity for appropriate diagnostic investigations and therapy.

Acute Disease↗
PubMed1994

Ureteropelvic obstruction due to urinary calculi in transplanted kidney.

In chronic renal failure patients many factors may predispose to stone formation following renal transplantation. Urinary calculi occur in transplanted cases in 0.3 to 6.3%. ESWL, percutaneous nephrolithotomy or open surgical treatment is usually necessary to treat these patients. In this study we present a patient transplanted from a living donor at our centre. Stone formation developed 3 months after the operation and ureteropelvic obstruction was corrected by open surgical intervention.

Chronic Disease↗
PubMedDate not supplied

Are carriers for MEFV mutations "healthy"?

OBJECTIVE: We aimed to compare whether carriers for the MEFV mutations display an increase or decrease in certain features. We compared the frequency of a number of inflammatory symptoms and diseases in carriers and a control population. METHODS: A questionnaire was designed to be applied to parents of children with FMF and a control group of parents. Clinical features and some diseases including the frequency of febrile episodes, abdominal pain, arthralgia, prophylaxis with penicillin, acute rheumatic fever, rheumatoid arthritis, vasculitis, spondyloarthropathy, urinary tract infection, asthma, allergy, irritable bowel disease, appendectomy and tonsillectomy were inquired. 676 parents of 440 children with FMF were surveyed in this study. Controls (n: 774) were selected as parents of healthy children. RESULTS: The presence of febrile episodes more than four per year, arthralgia, past diagnosis for acute rheumatic fever, rheumatoid arthritis and prophylaxis of penicillin, acute rheumatic fever, and rheumatoid arthritis were significantly higher in asymptomatic parents for the MEFV mutations compared to controls. The frequency of allergy was found to be significantly lower in the asymptomatic parents as compared to controls. There was no significant difference at the frequency of urinary tract infection and tonsillectomy between the parents of the patents and controls. CONCLUSIONS: We suggest that one MEFV mutation may indeed be conferring a heightened inflammation as suggested by the increased frequency in inflammatory symptoms. The carrier status for MEFV mutations seem to be unique, in that they cause an alteration in the state of "health".

Adult↗