Amyloidosis in Behçet's disease and familial Mediterranean fever.
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Adult↗
Biomedical subjects
S Ozen
Publications and source records attributed to S Ozen.
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H(+)-ATPase that cause rdRTA. Defects in the B1 subunit gene ATP6V1B1, and the a4 subunit gene ATP6V0A4, cause rdRTA with deafness and with preserved hearing, respectively. We have investigated 26 new rdRTA kindreds, of which 23 are consanguineous. Linkage analysis of seven novel SNPs and five polymorphic markers in, and tightly linked to, ATP6V1B1 and ATP6V0A4 suggested that four families do not link to either locus, providing strong evidence for additional genetic heterogeneity. In ATP6V1B1, one novel and five previously reported mutations were found in 10 kindreds. In 12 ATP6V0A4 kindreds, seven of 10 mutations were novel. A further nine novel ATP6V0A4 mutations were found in "sporadic" cases. The previously reported association between ATP6V1B1 defects and severe hearing loss in childhood was maintained. However, several patients with ATP6V0A4 mutations have developed hearing loss, usually in young adulthood. We show here that ATP6V0A4 is expressed within the human inner ear. These findings provide further evidence for genetic heterogeneity in rdRTA, extend the spectrum of disease causing mutations in ATP6V1B1 and ATP6V0A4, and show ATP6V0A4 expression within the cochlea for the first time.
Acidosis, Renal Tubular↗
The triad of weight loss, fever and night sweating: isolated bone marrow tuberculosis, a case report.
Extrapulmonary tuberculosis is known to be the infection in an organ with or without pulmonary involvement. The infection in extrapulmonary tuberculosis is insidious and the symptoms and signs are generally nonspecific. We describe a 56-year-old male patient complaining of weight loss, fever, and night sweats. Although there were no signs and symptoms attributable to pulmonary tuberculosis, polymerase chain reaction (PCR), microscobical and cultural examination of bone marrow aspirate revealed isolated bone marrow tuberculosis. A treatment protocol of isoniazid, rifampicin, pyrazinamide, and streptomycin was administered. After 9 months of treatment, re-examination of the bone marrow revealed no signs of tuberculosis. Tuberculosis should be kept in mind especially in endemic areas and bone marrow should be examined in case of suspected tuberculosis infection.
Antitubercular Agents↗
The spectrum of vasculitis in children.
The common vasculitides of childhood are more self-limited than those in adults. Clinical evidence suggests that infectious agents may have a significant role in the aetiology of these diseases although exact pathogenic mechanisms are not known. One of the most frequent of such diseases in childhood is Henoch-Schönlein purpura. The controversies regarding the management of gastrointestinal and renal disease and suggested treatments are reviewed. The limitations of current definitions for polyarteritis nodosa are discussed and a new classification tree for this disease is introduced. The definitions and classification criteria for the other major vasculitides encountered in children are also presented. Current treatment protocols for polyartertis nodosa, Wegener's granulomatosis and Behcet's disease are summarized.
Behcet Syndrome↗
Predisposing factors for delirium in the surgical intensive care unit.
BACKGROUND: Delirium is a sign of deterioration in the homeostasis and physical status of the patient. The objective of our study was to investigate the predisposing factors for delirium in a surgical intensive care unit (ICU) setting. METHOD: Between January 1996 and 1997, we screened prospectively 818 patients who were consecutive applicants to the general surgery service of Dicle-University Hospital and had been kept in the ICU for delirium. All patients were hospitalized either for elective or emergency services and were treated either with medication and/or surgery. Suspected cases of delirium were identified during daily interviews. The patients who had changes in the status of consciousness (n = 150) were consulted with an experienced consultation-liaison psychiatrist. The diagnosis of delirium was based on Diagnostic and Statistical Manual of Mental Disorders (revised third edition) criteria and established through psychiatric interviews. Patients were divided into two groups: the "delirious group" (DG) (n = 90) and the "non-delirious group" (NDG) (n = 728). During delirium, all abnormal findings related to physical conditions, laboratory features, and additional diseases were evaluated as probable risk factors of delirium. RESULTS: Of 818 patients, 386 (47.2%) were male and 432 (52.8%) were female. Delirium developed in 90 of 818 patients (11%). The cases of delirium in the DG were more frequent among male patients (63.3%) than female patients (36.7%) (chi2 = 10.5, P = 0.001). The mean age was 48.9 +/- 18.1 and 38.5 +/- 13.8 years in the DG and NDG, respectively (t = 6.4, P = 0.000). Frequency of delirium is higher in the patients admitted to the Emergency Department (chi2 = 43.6, P = 0.000). The rate of postoperative delirium was 10.9%, but there was no statistical difference related to operations between the DG and NDG (chi2 = 0.13, P = 0.71). The length of stay in the ICU was 10.7 +/- 13.9 and 5.6 +/- 2.9 days in the DG and NDG, respectively (t = 0.11, P = 0.000). The length of stay in hospital was 15.6 +/- 16.5 and 8.1 +/- 2.7 days in the DG and NDG, respectively (t = 11.08, P = 0.000). Logistic regression was used to explore the associations between probable risk factors and delirium. Delirium was not correlated with conditions such as hypertension, hypo/hyperpotassemia, hypernatremia, hypoalbuminemia, hypo/hyperglycemia, cardiac disease, emergency admission, age, length of stay in the ICU, length of stay in hospital, and gender. It was determined that conditions such as respiratory diseases (odds ratio [OR] = 30.6, 95% confidence interval [CI] = 9.5-98.4), infections (OR = 18.0, 95% CI = 3.5-90.8), fever (OR = 14.3, 95% CI = 4.1-49.3), anemia (OR = 5.4, 95% CI = 1.6-17.8), hypotension (OR = 19.8, 95% CI = 5.3-74.3), hypocalcemia (OR = 30.9, 95% CI = 5.8-163.2), hyponatremia (OR = 8.2, 95% CI = 2.5-26.4), azotemia (OR = 4.6, 95% CI = 1.4-15.6), elevated liver enzymes (OR = 6.3, 95% CI = 1.2-32.2), hyperamylasemia (OR = 43.4, 95% CI = 4.2-442.7), hyperbilirubinemia (OR = 8.7, 95% CI = 2.0-37.7) and metabolic acidosis (OR = 4.5, 95% CI = 1.1-17.7) were predicting factors for delirium. CONCLUSION: We determined that conditions such as respiratory diseases, infections, fever, anemia, hypotension, hypocalcemia, hyponatremia, azotemia, elevated liver enzymes, hyperamylasemia, hyperbilirubinemia and metabolic acidosis were predicting factors for delirium.
Adult↗
Higher frequency of allele 2 of the interleukin-1 receptor antagonist gene in patients with juvenile idiopathic arthritis.
OBJECTIVE: An increased incidence of allele 2 of the interleukin-1 receptor antagonist gene (IL1RN*2) in several inflammatory diseases has recently been reported. The aim of this study was to examine a variable number tandem repeat (VNTR) polymorphism of the IL1RN gene in patients with juvenile idiopathic arthritis (JIA). METHODS: Findings in 185 Czech patients with JIA were compared with those in 168 Czech controls, 50 JIA patients and 52 controls of Turkish origin, and 79 controls from central England. VNTR polymorphism analysis of IL1RN was performed by polymerase chain reaction using 2 flanking primers to amplify an 86-bp tandem repeat region in intron 2. RESULTS: The frequency and carriage rate of IL1RN*2 were significantly increased in Czech JIA patients compared with the Czech controls (frequency 27.6% versus 15.8%; carriage rate 44.3% versus 26.2%). Increased frequency and carriage rate of IL1RN*2 were found in 23.3% and 40.0% of Turkish JIA patients and in 17.3% and 34.6% of ethnically matched controls. The high representation of IL1RN*2 in 52.3% of the 22 patients with extended oligoarthritis, 31.3% of the 56 patients with enthesitis-related arthritis, and 42.9% of the 14 patients with other arthritis was particularly responsible for the increased frequency of IL1RN*2 in the Czech JIA patients. We found no association of IL1RN*2 with disease activity or severity parameters. CONCLUSION: Inheritance of IL1RN*2 may contribute to genetic susceptibility in several forms of autoimmune diseases, including JIA. The IL1RN*2 allele may be useful as a prognostic indicator of the evolution of an extended oligoarticular course of JIA.
Alleles↗
Occult parathyroid carcinoma in a patient with papillary thyroid carcinoma and Hashimoto's thyroiditis.
A 47-year-old female patient with a previous history of right thyroid lobectomy was admitted to the hospital because of a 3 cm nodule in the thyroid gland. Hormonal evaluation showed subclinical hypothyroidism with serum levels of thyroid stimulating hormone slightly elevated to 4.4 microg/dl (normal: 0.4-4 microg/dl). Thyroid ultrasound showed diffuse irregularity of the gland and the presence of a solitary nodule (30x18 mm in diameter) localized in the left lobe. A fine needle aspiration biopsy was performed. Cytological analysis revealed papillary thyroid carcinoma and Hashimoto's thyroiditis. Total thyroidectomy was performed. During the operation, two of the parathyroid glands were detected to be hyperplastic. Histopathological examination of the thyroid and parathyroid glands revealed Hashimoto's thyroiditis with papillary thyroid carcinoma and synchronous carcinoma of the parathyroid gland. To our knowledge, this association of occult parathyroid carcinoma in a patient with papillary thyroid carcinoma and Hashimoto's thyroiditis has not been reported in the literature. Given the high prevalence of autoimmune diseases in elderly women, a random occurrence of this triad represents the most likely explanation.
Biopsy, Needle↗
Successful treatment of polyarteritis nodosa with interferon alpha in a nine-month old girl.
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Angiogenesis Inhibitors↗
Pulmonary haemorrhage in a 6-year-old boy with Henoch-Schönlein purpura.
Henoch-Schönlein purpura (HSP) is the most common vasculitis in children. It is a multisystemic disease but pulmonary haemorrhage is extremely rare. We present the case of a 6-year-old boy with Henoch-Schönlein purpura, pulmonary haemorrhage and severe renal involvement. The patient responded to a combination of intravenous methylprednisolone and cyclophosphamide. A review of the literature revealed that young age may be a good prognostic sign and that immunosuppressive drugs and supportive management are essential in the treatment. Renal biopsy is helpful in the differential diagnosis of HSP-mimicking pulmonary vasculitic syndromes. Combining cyclophosphamide with glucocorticoids may improve the outcome in severe HSP cases with pulmonary haemorrhage.
Child↗
Benign familial hematuria associated with a novel COL4A4 mutation.
We describe a father and three offspring with hematuria. The father and one girl also complained of flank pain. Renal function tests and ophthalmological examinations were normal in all. The father had very mild neural deafness. The renal biopsy samples of two affected siblings showed changes compatible with thin basement membrane disease. Genetic analysis revealed a novel missense mutation in exon 32 of COL4A4 to be responsible for the phenotype in this family. We suggest that thin basement membrane disease may have overlapping clinical features with other causes of hematuria; genetic analysis may help in the differential diagnosis and help us further understand the disease processes.
Adolescent↗
Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus.
The two most common hereditary risk factors for thrombosis are factor V Leiden mutation and a prothrombin gene mutation. There is indeed a thrombotic tendency in patients with systemic lupus erythematosis (SLE) and it is not always associated with antiphospholipid antibodies. We aimed to determine the relationship between both factor V Leiden and prothrombin gene mutations and SLE. Using polymerase chain reaction (PCR) the factor V Leiden and prothrombin gene mutations were evaluated in 55 patients (20 children and 35 adults) with SLE. Although seven patients were found to have factor V Leiden mutation in the heterozygous state, two had the heterozygous G-->A (20210) prothrombin gene mutation. Although one had these two mutations concurrently, these two patients did not have thrombosis. The factor V Leiden mutation frequency (12.7%) was higher than that of our general population (7.1%). On the other hand, seven of the patients with SLE had a thrombotic event. Although of these seven, four (57%) had factor V Leiden mutation, three (43%) had no mutation. Of 48 patients with no thrombotic history, only three had the factor V mutation (6.25%). The prevalence of the factor V Leiden mutation in SLE patients with and without thrombosis was significantly different by Fisher's exact test (p<0.05). The risk of venous thrombosis in patients with factor V Leiden increased threefold compared to that in those without factor V Leiden mutation (odds ratio 20.1; CI 2.99-133.6). Although factor V Leiden mutation seems to play a role in the development of venous thrombosis in SLE, the development of thrombosis in SLE is multifactorial.
Adolescent↗
Mannitol treatment in central nervous system lupus.
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Administration, Oral↗
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↗
Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF?
BACKGROUND: Familial Mediterranean Fever (FMF) is caused by mutations in the gene encoding pyrin and is characterized by self-limited, recurrent attacks of fever and serositis. Vasculitis has been increasingly reported in FMF. A study evaluating the prognosis in FMF and polyarteritis nodosa (PAN) patients has not been reported previously. OBJECTIVES: To determine the special characteristics and the prognosis of PAN in FMF patients. METHODS: A questionnaire was used for the present survey. The setting was 7 referral centers from Turkey and Israel. Seventeen patients who were diagnosed with FMF and who developed PAN were included. PAN was diagnosed in those who met the Chapel Hill consensus criteria for microscopic polyarteritis or classic PAN. The clinical features of these 17 patients and the outcomes of their vasculitis were analyzed. RESULTS: The age at diagnosis of PAN in these FMF patients ranged from 3.5 to 37 years. All patients had constitutional symptoms, elevated acute phase reactants, and myalgia at the time PAN was diagnosed. The diagnosis of PAN was confirmed by renal angiography in 8 patients, by renal biopsy in 6 patients, and by muscle and/or nodule biopsies in 6 patients. A number of patients had definite features of both classic PAN and microscopic polyarteritis. CONCLUSIONS: When compared with other PAN patients, those with FMF tended to have a younger age at PAN onset, more frequent perirenal hematomas, and an overall better prognosis. The cases with overlapping features of microscopic and classic PAN pose a problem for the current classification of vasculitis. We suggest that the clinical representation of PAN in FMF patients has certain characteristics and may be a feature of FMF per se.
Adolescent↗
Myelodysplastic features in polyarteritis nodosa.
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Blood Cells↗
Association of nitric oxide production and apoptosis in a model of experimental nephropathy.
BACKGROUND: In recent studies increased amounts of nitric oxide (NO) and apoptosis have been implicated in various pathological conditions in the kidney. We have studied the role of NO and its association with apoptosis in an experimental model of nephrotic syndrome induced by a single injection of adriamycin (ADR). METHODS: The alteration in the NO pathway was assessed by measuring nitrite levels in serum/urine and by evaluating the changes in vascular reactivity of the isolated perfused rat kidney (IPRK) system. Rats were stratified into control groups and ADR-induced nephropathy groups. These two groups were then divided into: group 1, animals receiving saline; and group 2, animals receiving aminoguanidine (AG) which is a specific inhibitor of inducible-NO synthase. On day 21, rats were sacrificed after obtaining material for biochemical analysis. RESULTS: Histopathological examination of the kidneys of rats treated with ADR revealed focal areas of mesangial proliferation and mild tubulointerstitial inflammation. They also had significantly higher levels of proteinuria compared with control and treatment groups (P < 0.05). Urine nitrite levels were significantly increased in the ADR-nephropathy group (P < 0.05). In the IPRK phenylephrine and acetylcholine related responses were significantly impaired in the ADR-nephropathy group. Apoptosis was not detected in controls. However, in the ADR-nephropathy group, numerous apoptotic cells were identified in the tubulointerstitial areas. Double staining revealed numerous interstitial apoptotic cells to stain for ED1, a marker for monocytes/macrophages. Treatment with AG prevented the impairment of renal vascular bed responses and reduced both urine nitrite levels and apoptosis to control levels. CONCLUSION: We suggest that interactions between NO and apoptosis are important in the pathogenesis of the ADR-induced nephrosis.
Animals↗
The significance of antineutrophil cytoplasmic antibody in microscopic polyangitis and classic polyarteritis nodosa.
AIMS: To describe the distribution and features of classic polyarteritis nodosa (PAN) and microscopic polyarteritis (MPA) and the importance of antineutrophil cytoplasmic antibody (ANCA) in childhood PAN. METHODS: Classic PAN was diagnosed in 15 patients based on the presence of aneurysms on angiography in 10 patients and of necrotising vasculitis in medium sized arteries in five. MPA was diagnosed in 10 patients, based on characteristic findings at renal biopsy in six and by the presence of small sized necrotising arteritis in four. Serum ANCA was detected initially by indirect immunofluorescence (IIF) followed by an immunoassay for myeloperoxidase (MPO) in each case. RESULTS: The median age of the patients with classic PAN and MPA was 12 (range 8-17) and 9.5 (range 5-14) respectively. None of the patients with classic PAN had renal failure. Six of the patients with MPA presented with renal failure; four progressed to chronic renal failure. Clinically evident pulmonary-renal syndrome was present in three of the 10 patients with MPA. IIF for ANCA in classic PAN was negative in nine, showed mild staining patterns in six, and in one MPO-ELISA was mildly increased. IIF for ANCA in MPA revealed very strong perinuclear ANCA staining in nine and atypical staining in one. In MPA, median MPO-ELISA level was 42.5 EU/ml (range 20-250). Treatment of childhood PAN was satisfactory with effective treatment; however relapses did occur. CONCLUSION: ANCA is useful in the diagnosis and follow up of MPA.
Adolescent↗
Metastatic bone marrow tumours: a report of six cases and review of the literature.
Bone marrow aspirations and biopsies are now employed in the investigation of many disorders in haematology, oncology, and internal medicine. In this paper, clinical, laboratory, and pathological findings are presented of patients with bone marrow metastases of solid tumours (n = 6). Anemia was detected in four cases (66.6%), thrombocytopenia in five cases (83.3%), leukopenia in three cases (50%), diffuse bone pain in four cases (66.6%), elevated serum alkaline phosphatase levels in four cases (66.6%). and hypercalcaemia in two cases (33.3%). In conclusion, bone marrow aspiration and biopsy examinations are effective, practical, and cheap in detecting solid tumour metastasis to bone marrow in a selected group of patients.
Aged↗