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Biomedical subjects

S Ozen

Publications and source records attributed to S Ozen.

At least 145 records · Page 8Linked to original sources
PubMedDate not supplied

Sacroiliitis in familial Mediterranean fever: an unusual presentation in childhood.

Familial Mediterranean fever (FMF) is an autosomal recessively transmitted disease characterized by attacks of fever and serositis. The course of arthritis, which is a common manifestation of FMF, is generally benign. Sacroiliitis due to FMF has been reported by several authors, but all the patients described so far had roentgenographic abnormalities, and most of them were adult cases. Here we report the youngest FMF patient with sacroiliitis without any abnormality on sacroiliac x-ray. She is also the first FMF patient in whom sacroiliac involvement was diagnosed by computed tomography (CT) in childhood. It is concluded that CT is a useful technique for the early diagnosis of destructive arthritis in FMF patients even in early childhood.

Arthritis↗
PubMedDate not supplied

Peripheral arterial thrombosis in systemic lupus erythematosis and nephrotic syndrome: possible association with protein S deficiency.

Arterial thrombosis in systemic lupus erythematosus (SLE) and nephrotic syndrome have been infrequently reported. A 16-year-old boy with SLE and longstanding nephrotic syndrome presented with peripheral arterial thrombosis when his lupus was at an inactive stage. He did not have antiphospholipid antibodies but had low serum antithrombin III and protein S levels. We suggest that the thrombotic event is not related to antiphospholipid antibodies but to nephrotic syndrome and possibly to acquired protein S deficiency.

Adolescent↗
PubMedDate not supplied

Intraabdominal lymphangiomyoma in an infant with protein-losing enteropathy and hemihypertrophy.

Lymphangiomyoma is an extremely rare tumor occurring exclusively in women of reproductive age. The tumor is characterized by proliferation of immature smooth muscle along the lymphatic vessels of the abdomen, thorax and lung. Although lymphangiomyoma has been reported in a young girl and a girl infant, none has been reported in boys. We report herein a case of lymphangiomyoma in a two-year-old boy. The unusual presentation in this patient was that the tumor arose from the small bowel mesentery without any evidence of lung involvement. The tumor was extirpated and lymphangiomyomatosis was confirmed pathologically.

Anastomosis, Surgical↗
PubMedDate not supplied

Apoptosis in renal disease: a brief review of the literature and report of preliminary findings in childhood lupus nephritis.

Apoptosis, a programmed form of cell death, is an important mechanism that maintains cellular homeostasis. The cellular content of tissues is regulated by a balance between cell proliferation and cell loss. Apoptosis is important not only in physiological conditions but in pathological processes as well. Apoptosis has been implicated in the pathogenesis of certain renal diseases. In human models, systemic lupus erythematosus (SLE) and IgA nephropathy have been the main interests. These studies have mainly shown that apoptosis is important in the control of mesangial cell population. We have attempted to define the role of apoptosis in a cohort of childhood lupus nephritis. We have analyzed apoptosis by the terminal deoxynucleotidyl transferase (Tdt)-mediated dUTP-biotin nick end-labeling (TUNEL) method in eight SLE pediatric patients, two of whom had hereditary deficiencies of complement components. Although the sample size was small because of the rarity of hereditary complement deficiencies, we have shown that apoptotic activity was the greatest among these pediatric patients. It has been previously suggested that in lupus, autoimmunity develops as a result of inadequate clearance of apoptotic blebs containing nuclear elements; complement deficiencies are the most important hereditary factors predisposing to the inadequate clearance of apoptotic particles. This is the first time this hypothesis has been evaluated in the tissue samples of hereditary complement deficiency-related proliferative lupus nephritis. On the other hand, apoptosis was not different from the other mesangial proliferative glomerulopathies in the lupus nephritis samples. Further studies are needed to confirm our preliminary findings. Apoptosis has been implicated in other renal diseases as well, such as autosomal polycystic kidney disease, and in experimental models. A short review of the relevant literature is presented highlighting the role of apoptosis in the pathogenesis and prognosis of certain renal diseases.

Apoptosis↗
PubMedDate not supplied

The Turkish version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ).

We report herein the results of the cross-cultural adaptation and validation into the Turkish language of the parent's version of two health related quality of life instruments. The Childhood Health Assessment Questionnaire (CHAQ) is a disease specific health instrument that measures functional ability in daily living activities in children with juvenile idiopathic arthritis (JIA). The Child Health Questionnaire (CHQ) is a generic health instrument designed to capture the physical and psychosocial well-being of children independently from the underlying disease. The Turkish CHAQ CHQ were fully validated with 3 forward and 3 backward translations. A total of 145 subjects were enrolled: 85 patients with JIA (35% systemic onset, 41% polyarticular onset, and 24% persistent oligoarticular subtype) and 60 healthy children. The CHAQ clinically discriminated between healthy subjects and JIA patients, with the systemic, and polyarticular subtypes having a higher degree of disability, pain, and a lower overall well-being when compared to their healthy peers. Also the CHQ clinically discriminated between healthy subjects and JIA patients, with the systemic onset, and polyarticular onset having a lower physical and psychosocial well-being when compared to their healthy peers. In conclusion the Turkish version of the CHAQ-CHQ is a reliable, and valid tool for the functional, physical and psychosocial assessment of children with JIA.

Adolescent↗
PubMedDate not supplied

Increased neutrophil apoptosis during attacks of familial Mediterranean fever.

AIM: Apoptosis is a programmed form of cell death. Recently much attention has been devoted to the role of apoptosis in rheumatological diseases. We have aimed to analyze apoptosis in the inflammatory pathway of familial Mediterranean fever (FMF). METHODS: 26 FMF patients and 12 age and sex matched controls were the subject of the study. Twelve of the patients were analyzed during an FMF attack whereas samples were obtained at least a week after an attack in 14. Four of the patients had renal amyloidosis. Whole blood was treated with ammonium chloride for RBC lysis. Subsequently the cells were stained with propidium iodide and annexin. Neutrophils and lymphocytes were gated separately for analysis by flow cytometry. We have also analyzed cellular Fas and Fas-ligand expression in these cells. RESULTS: The mean age of the patients was 12.00 +/- 3.17, and was not different than the control subjects. Erythrocyte sedimentation rate and CRP levels were significantly elevated in the attack group as compared to the attack-free group. The mean levels of neutrophil apoptosis in the FMF patients with an attack, attack-free and controls were 12.94 +/- 11.78, 6.60 +/- 7.83 and 3.98 +/- 4.27, respectively. Lymphocyte apoptosis in the same groups were 7.84 +/- 8.63, 2.75 +/- 2.33, and 1.22 +/- 0.93, respectively. Neutrophil and monocyte apoptosis was significantly increased during the attack as compared to the controls (p < 0.05). However lymphocyte apoptosis was not different between the aforementioned groups. On the other hand, lymphocyte apoptosis was significantly increased in the SLE patients (p < 0.05), whereas neutrophil apoptosis was not. Fas staining of neutrophils were not different between the groups (p > 0.05). On the other hand the difference between the groups for FasL was significant (p < 0.05). CONCLUSION: Neutrophil and monocyte but not lymphocyte apoptosis was significantly increased during FMF attacks reminding us that FMF is an autoinflammation of certain peripheral cells. The increased apoptosis in these patients maybe regarded as a response to clear the unwanted inflammatory cells. On the other hand the increased apoptosis maybe the explanation of the self-limited nature of the FMF attacks. Future studies will enlighten us on the significance of this increased apoptosis in the process of inflammation.

Adolescent↗
PubMedDate not supplied

Effect of the substitution of critical residues on the allorecognition of HLA-B27.

The three-dimensional structure of the HLA class I molecules has highlighted the importance of the "groove" formed by the helices. We used site-directed mutagenesis to construct a series of HLA-B27 mutants with different substitutions at the sites of the conserved amino acid residues of HLA-B27 subtypes, specifically residue 77 which is thought to be critical to the binding site of the molecule, and a residue at the CD8 binding site. We formed an anti-B27 CTL line and derived six anti-B27 clones. Each of the six clones showed a different pattern of reaction, reflecting the diversity of the epitopes recognized. All nine mutants were effective in altering allorecognition by HLA-B27 specific CTL, although positions 45 and 77 caused the most drastic effect. The residue in position 77 is also the last amino acid of the peptide sequence shared with Klebsiella. Our results highlight the importance of certain epitopes in allorecognition that may have important implications for the immunotherapy of autoimmune diseases.

Amino Acid Sequence↗
PubMedDate not supplied

Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever.

OBJECTIVES: 1) To compare the sensitivity of serum amyloid A protein (A-SAA) and other acute phase proteins (APPs) in determining subclinical inflammation in patients with familial Mediterranean fever (FMF) during an attack-free period; 2) to define those clinical, laboratory features that may modify the A-SAA level; and 3) to evaluate the effect of an increase in the colchicine dose on the A-SAA level. METHODS: A-SAA, CRP, ESR, fibrinogen and ferritin levels were measured in 183 patients [88 F, 95 M; median age 11.0 years (1.0-20.0)] with FMF during an attack-free period. Mutational analysis was available in 157 patients. The colchicine dose was increased in 26 randomly chosen patients with no attacks within the last year; laboratory studies were repeated at the end of the second month. RESULTS: During an attack-free period, the median A-SAA level was 74 (6-1,500) mg/L; other APPs were within normal ranges in 49-93% of the patients. Age, gender, age at onset, age at diagnosis, the duration of treatment and the frequency of attacks had no significant effect on the A-SAA level. Homozygous and compound heterozygous patients had higher A-SAA levels than heterozygous patients [129 mg/L (8-1,500) versus 29 mg/L (6-216); p < 0.005]. There was a dramatic decrease in the A-SAA level [from 244 mg/L (16-1,400) to 35.5 mg/L (8-1,120); p < 0.001] and an increase in the hemoglobin (1.89 +/- 0.10 mmol/L to 1.98 +/- 0.19 mmol/L; p < 0.005) after the increase in colchicine dose in 26 patients. CONCLUSION: Subclinical inflammation continues during an attack-free period in FMF patients. A-SAA was the best marker of subclinical inflammation. Patients who are homozygous or compound heterozygotes of MEFV mutations had higher A-SAA levels. An increase in the colchicine dose resulted in a dramatic decrease in A-SAA and an increase in hemoglobin level. These findings favor the use of A-SAA in drug monitoring.

Acute-Phase Proteins↗
PubMedDate not supplied

The prevalence of familial Mediterranean fever in the Turkish province of Denizli: a field study with a zero patient design.

OBJECTIVE: This study had two aims: (1) to investigate the prevalence of familial Mediterranean fever (FMF) and Behçet's disease (BD) in school students in Denizli, a province in western Turkey; and (2) to determine whether the previously suggested "zero patient design" was reliable for use in a prevalence survey. METHODS: The field survey was performed in two stages. In the first stage 7,389 students (3,847 females and 3,542 males) were asked to fill out a questionnaire in the classroom. In the questionnaire, filtering questions for FMF (the presence of recurrent attacks of fever accompanying abdominal pain, joint pain/swelling, and/or chest pain) and BD (presence of aphthous stomatatis) were asked. The second stage consisted of two parts. In the first, 3225 questionnaires were completed by 1778 female and 1447 male students calculated according to the zero patient design, who were selected randomly from among 7389 students for evaluation. Students with any suspicion of FMF and Behçet's disease were called to the hospital for detailed investigation. In the second step the remaining students were evaluated. RESULTS: Out of 3225 children questioned in the first step, 156 claimed recurrent abdominal pain and/or chest pain, and/or joint pain/swelling with accompanying fever, which might suggest the presence of FMF However, this diagnosis was excluded after further clinical evaluation. In the second step 152 students were called for detailed investigation: 2 patients, one 10 years and the other 12 years old, were diagnosed as having FMF. None were diagnosed to have Behçet's disease. CONCLUSION: The prevalence of FMF in Turkey in general is about 0.093%. The prevalence rate found in this survey was lower (0.027%) which may be due to the historic background of the region. This is the first study that has shown that the "zero patient design" can be used in an epidemiological survey.

Adolescent↗
PubMedDate not supplied

Etanercept in the treatment of arthritis in a patient with familial Mediterranean fever.

Familial Mediterranean fever (FMF) patients may present with different joint complaints, one being the 'protracted attack' that lasts for weeks. We present a 15 year-old boy with polyarthritis (right wrist, knee, shoulder, and both ankles) while on colchicine treatment for FMF. His polyarthritis was resistant to treatment with prednisolone and methotrexate, and etanercept was instituted (0.8 mg/kg/week). He responded dramatically to etanercept and remained in full remission, although the drug was stopped at 4 months due to social and financial causes. We suggest that anti-TNF drugs may be an alternative for resistant attacks. However the timing and dosage, as well as efficacy, need to be further studied.

Adolescent↗
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↗
PubMedDate not supplied

Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome).

Two patients with diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA), deafness (D) and dilatation of the urinary tract-the so-called DIDMOAD syndrome are presented. In one of the patients, the presenting components were DI and OA. In the second case, DM was the first manifestation to be diagnosed, and in this patient the course of the syndrome was complicated by associated epileptical activity disorders, and later septicemia. The admission of these patients led us to review the literature describing this syndrome.

Adolescent↗