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Biomedical subjects

Seza Ozen

Publications and source records attributed to Seza Ozen.

44 records · Page 3Linked to original sources
PubMed2002

Ceruloplasmin levels in antineutrophil cytoplasmic antibody-positive patients.

Anti-myeloperoxidase (MPO) antibodies are associated with the development of anti-neutrophil cytoplasmic antibody (ANCA)-related vasculitis. The imbalance between the protease-antiprotease activity in the neutrophils has been implicated in the pathogenesis of ANCA-related vasculitis. Ceruloplasmin is an acute-phase protein that has antiproteinase and antioxidant properties and inhibits MPO activity. We attempted to study the association between serum ceruloplasmin and ANCA in childhood vasculitis. Forty-five ANCA-related diseases were included in the study. The age range was 4-16 years. Patients were divided into two groups based on indirect immunofluorescence and/or ELISA specificity (MPO). Twenty-six patients had p-ANCA- and 19 patients had c-ANCA-positive disease. Nine patients with Henoch-Schönlein purpura were studied as an ANCA-negative control group. Serum ceruloplasmin levels in p-ANCA-, c-ANCA-positive patients, and controls were 125.85+/-93.48 mg/dl, 59.79+/-17.60 mg/dl, and 64.34+/-18.77 mg/dl, respectively, and were significantly higher in patients with p-ANCA ( P<0.05). Ceruloplasmin levels were significantly decreased in remission ( P<0.05). Median MPO level in p-ANCA-positive patients was 15.2 (5-250) and was negative in all c-ANCA-positive patients. There was a significant positive correlation between MPO and ceruloplasmin levels ( r=0.70, P<0.05). Of 26 patients (53.8%) in the p-ANCA-positive group, 14 had renal involvement. The patients with renal disease had significantly higher ceruloplasmin levels than others (151.17+/-92.14 and 134.64+/-95.16 mg/dl respectively, P<0.05). In conclusion, the increase in ceruloplasmin levels during the acute phase suggests that this might be an activation criterion or a response to neutrophil-mediated tissue injury. Increased ceruloplasmin levels together with p-ANCA positivity may be predictive for renal involvement and a serious clinical course. The correlation between ceruloplasmin and MPO levels supports their association. Further studies are necessary to elucidate whether genetic and/or functional alterations in ceruloplasmin are effective in the pathogenesis of vasculitis.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed2002

Renal Behçet's disease: a cumulative analysis.

OBJECTIVE: To analyze cumulated data about renal involvement in Behçet's disease (BD) and to report on 6 patients with BD and renal problems. METHODS: We found reports of 159 patients (including our patients) with BD and specific renal disease (amyloidosis 69, glomerulonephritis [GN] 51, renal vascular disease 35, and interstitial nephritis 4) in our survey. RESULTS: The frequency of renal problems among BD patients has been reported to vary between 0% to 55%. Male gender is a risk factor for all types of renal BD. Nephrotic syndrome was present in 83% of patients with amyloidosis, and renal failure was common at the time of diagnosis. The mean interval between the initial manifestation of BD and diagnosis of amyloidosis was shorter in men than in women (P =.02). AA-type amyloid fibrils were shown in all cases studied. Vascular involvement was common in the patients with amyloidosis (60%). The renal findings in GN show a wide spectrum, from asymptomatic hematuria and/or proteinuria to rapidly progressive GN. Several types of glomerular lesions ranging from minor glomerular changes to crescentic glomerulonephritis are observed in BD. The common types of glomerular lesions among the reported cases are crescentic GN, proliferative GN, and immunoglobulin A (IgA) nephritis. Aneurysms may be located throughout the renal artery, from the orifice of the main artery to intrarenal microaneurysms. Another type of renal disease (amyloidosis or GN) and other major vascular involvement were present in all cases with renal vein thrombosis. Hypertension is common among patients with renal artery aneurysm or stenosis. Microscopic vascular disease was described in 4 patients. CONCLUSIONS: Based on data in the literature, we suggest that renal involvement in BD is more frequent than has been recognized, although it is most often mild in nature. Amyloidosis is one of the prognostic factors affecting survival. Patients with vascular involvement carry high risk for amyloidosis, and administration of colchicine to these patients may be beneficial. More evidence is needed to accept interstitial nephritis as a manifestation of BD. In spite of some difficulties, hemodialysis and renal transplantation are safe treatment options in BD-related uremia.

Adult↗
PubMed2002

MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. The most important complication of FMF is the development of AA type secondary amyloidosis. In a group of patients clinically designated as phenotype II amyloidosis patients, renal amyloidosis develops without being preceded by typical attacks of the disease. In this study, the mutations of the MEFV gene were analysed in a group of patients clinically recognized as phenotype II. METHODS: DNA samples were obtained from tissue samples of the subjects. PCR-RFLP methods were used to analyse the M694V, M680I, V726A and E148Q mutations that have been previously defined by us to be the most common mutations in our Turkish cohort. RESULTS: The distribution of the four most common mutations among phenotype II patients was 38% for M694V, 8% for M680I, 4% for V726A and 4% for E148Q. CONCLUSIONS: In phenotype II amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis. We therefore suggest that secondary genetic or environmental factors are operative in the development of secondary amyloidosis in patients with FMF.

Adolescent↗
PubMed2002

The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to document factors associated with the renal outcome. The mean age to end-stage renal disease (ESRD) was 54 yr, with no significant difference between men and women and no association with the angiotensin-converting enzyme polymorphism. Considerable intrafamilial variability was observed, reflecting the influences of genetic modifiers and environmental factors. However, significant differences in outcome were also found among families, with rare examples of unusually late-onset PKD1. Possible phenotype/genotype correlations were evaluated by estimating the effects of covariants on the time to ESRD using proportional hazards models. In the total population, the location of the mutation (in relation to the median position; nucleotide 7812), but not the type, was associated with the age at onset of ESRD. Patients with mutations in the 5' region had significantly more severe disease than the 3' group; median time to ESRD was 53 and 56 yr, respectively (P = 0.025), with less than half the chance of adequate renal function at 60 yr (18.9% and 39.7%, respectively). This study has shown that the position of the PKD1 mutation is significantly associated with earlier ESRD and questions whether PKD1 mutations simply inactivate all products of the gene.

Age of Onset↗
PubMedDate not supplied

Fatal cytophagic histiocytic panniculitis.

Individual cases of so-called Weber-Christian disease with a bleeding diathesis have been reported for several years. These were originally diagnosed as Weber-Christian disease, but have been recategorized on review as a chronic, visceral, and cutaneous histiocytic (cytophagic) panniculitis, progressing to liver dysfunction and jaundice and a terminal hemorrhagic diathesis. We report here a rare catastrophic form of systemic panniculitis in an adolescent girl. Despite compelling clinical evidence, the diagnosis was made only on postmortem biopsies.

Adolescent↗
PubMedDate not supplied

Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients.

The aim of this study was to examine whether polymorphisms at serum amyloid A (SAA) and tumor necrosis factor-alpha (TNF-alpha) genes are associated with development of amyloidosis in familial Mediterranean fever (FMF) patients. Seventy-three FMF patients with amyloidosis and 100 other FMF patients without amyloidosis of known genotypes and 100 healthy control subjects were analyzed. There was a significant difference in the frequency of alpha/alpha genotype at the SAA1 locus between FMF patients with amyloidosis and controls and FMF patients without amyloidosis. The frequencies of the alpha/alpha genotype and alpha alleles at SAA1 locus were significantly higher in the FMF patients with amyloidosis. The frequencies of the alpha allele at SAA1 locus in FMF patients with amyloidosis, without amyloidosis and controls were 85.6%, 49.5% and 42.5%, respectively. We demonstrated that alpha/alpha genotype at SAA1 gene might have modifying effects on the development of amyloidosis. Determination of genotypes at SAA1 locus can play a key role in conferring genetic susceptibility and patient's prognosis to renal amyloidosis.

Amyloidosis↗
PubMedDate not supplied

Biochemical markers of bone turnover in the diagnosis of renal osteodystrophy in dialyzed children.

In this study we investigated the value of biochemical markers of bone turnover in the diagnosis of renal osteodystrophy in dialysis patients. The study was carried out in 22 chronic renal failure patients (mean age: 16.1 +/- 4.5) being treated with chronic dialysis. There were three groups according to intact parathormone (iPTH) levels: Group I (n: 6): iPTH levels were less than 200 pg/ml; Group II (n: 9): iPTH levels were between 201 and 500 pg/ml; and Group III (n: 7). iPTH levels were higher than 501 pg/ml. We investigated iPTH, bone alkaline phosphatase, total serum alkaline phosphatase, osteocalcin, serum type 1 procollagen peptide (PICP) and insulin-like growth factor-1 (IGF-1) levels in all patients. In group III mean bone alkaline phosphatase level (126.0 +/- 10.95) was significantly higher than in both group I and group II (52.16 +/- 22.8, 57.35 +/- 16.21) (p < 0.001). Mean osteocalcin level (35.13 +/- 2.93) in group I was significantly lower than in group III (40.52 +/- 2.83) (p < 0.05). Serum alkaline phosphatase, PICP and IGF-1 levels were not different between the groups (p > 0.05). There was a significant positive correlation between bone alkaline phosphatase and iPTH (r = 0.80, p < 0.0001). Serum osteocalcin correlated with both bone alkaline phosphatase and iPTH (correlation) coefficients were r = 0.44 and r = 0.51 respectively, p < 0.05). It is concluded that bone alkaline phosphatase and osteoocalcin combined with iPTH level seem to be useful noninvasive markers of bone metabolism in dialysis patients.

Adolescent↗