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B Balci

Publications and source records attributed to B Balci.

6 recordsLinked to original sources
PubMed2004

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.

BACKGROUND: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE: To evaluate the phenotypic features of the patients with E148Q mutation. SUBJECTS: 26 patients homozygous for E148Q, 10 compound heterozygous for E148Q, and eight complex cases were assessed. RESULTS: Although four of the 26 patients with E148Q/E148Q were asymptomatic at the time of evaluation, abdominal pain was seen in 77% of the patients, fever in 66%, arthralgia in 50%, arthritis in 15.4%, and vomiting in 23.8%. Compound heterozygotes and complex cases had a higher frequency of abdominal pain, fever, arthralgia, arthritis, myalgia, and chest pain than subjects who were homozygous for E148Q, but none of these symptoms reached statistical significance. None of our patients had amyloidosis but two with E148Q/E148Q had a family history of amyloidosis and one had rapidly progressive glomerulonephritis secondary to vasculitis, which progressed to chronic renal failure. CONCLUSIONS: Patients homozygous for E148Q have a heterogeneous clinical presentation. Most are symptomatic and colchicine treatment is required in these patients.

Abdominal Pain↗
PubMed2004

Beta-sarcoglycan gene mutations in Turkey.

The term limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that, at the outset, affect primarily the muscles of the hip and shoulder girdle. Limb-girdle muscular dystrophy is genetically heterogeneous comprising autosomal dominant (types LGMD 1A-1E) as well as autosomal recessive forms (types LGMD 2A-2J known). A subgroup among the autosomal recessive forms comprises the sarcoglycanopathies (LGMD2C-2F), caused by mutations in the gamma (gamma-SG), alpha (alpha-SG), beta (beta-SG) and delta (delta-SG) sarcoglycan genes, respectively. The sarcoglycans form the sarcoglycan complex, part of the dystrophin-associated glycoproteins. Mutations in the beta-SG gene causes LGMD2E. Disease severity, in this form, varies from mild to severe phenotypes depending on the individual mutation. Homozygous missense mutations in critical locations may result in the total absence of alpha-, beta- and gamma-sarcoglycan from the muscle membrane and a phenotype as severe as null mutations. In the present study, through screening 80 unrelated LGMD2 families, we identified 13 families with LGMD2E. Mutations in the beta-SG gene were identified in 12 patients from nine families. One of these patients carried a previously reported truncating mutation (Q11X), while the other 11 carried novel missense/rameshift mutations (M1L, V89M, I92T, I92S, 739insA), some of which were seen in more than one patient and may, therefore, be more common in the Turkish population.

Adolescent↗
PubMed2003

Analgesic intolerance with or without bronchial asthma: is there a marker?

BACKGROUND: The prevalence of analgesic intolerance (AI) is less than 1% in the general population and about 10% in adult asthmatics, in whom the disease tends to be more severe. OBJECTIVE: A possible clinical-laboratory marker was sought that would differentiate patients who have AI with/without asthma, AI with asthma, and AI without asthma from the healthy subjects. METHODS: In the survey, 66 analgesic-intolerant patients (36 having asthma) were compared with 50 healthy subjects using a nickel patch-test, 65 patients (39 having asthma) with 55 healthy subjects for the presence of a genetic marker (A38G and A444C SNPs in CC16 and LTC4S genes), and 32 patients (14 having asthma) with 118 healthy subjects for presence and frequency of human leukocyte antigens (HLA). RESULTS: The mean age of the patients with AI with/without asthma and the healthy subjects for the nickel patch-test group, genetic marker group, and the HLA group was 39.8 +/- 10.5 and 33.3 +/- 11.1, 41.5 +/- 11.6 and 38.1 +/- 13.4, and 39.4 +/- 12.5 and 41 +/- 2.6, respectively. The frequency of the females in the same groups, in the same order, was 72.7% and 54%, 81.5% and 62%, and 71.9% and 59.3%, respectively. The frequency of positive nickel patch-test results and the A38G and A444C frequency in CC16 and LTC4S genes were not significantly different (p > 0.05). The frequency of HLA antigens HLA-A3, -B52, -DR16, -DQ5, -DQ8 and -DQ9 were significantly higher; and -A24, -B35, -B44, -DQ6 and -DQ7 were significantly lower in the AI group with/without asthma compared to the control group (p < 0.05). CONCLUSION: As a result, nickel patch-test positivity and the genes which we have studied do not seem to be markers for AI with/without asthma. However, there might be a relation between AI with/without asthma and the types of the HLA system. Further surveys are needed with other genes and possible markers.

Adult↗
PubMed2001

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish population and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (20%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M680I 5%, V726A 2%, M694I 0% and E148Q 12%) was significantly different (P<0.005) from that found in patients (M694V 51.55%, M680I 9.22%, V726A 2.88%, M694I 0.44% and E148Q 3.55%).

Alleles↗