Lipoprotein-associated phospholipase A2 level in patients with Behçet's disease.

BACKGROUND: Behçet's disease (BD) is a chronic multisystem inflammatory disorder characterized by vasculitis. Vasculitis is thought to underlie many of the clinical manifestations of Behçet's disease. Lipoprotein-associated phospholipase A2 (Lp-PLA2 ) is a highly specific biomarker for vascular inflammation, and has low biological variability. Those features make it more attractive than other inflammatory markers including C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR), which may reflect systemic inflammation non-specifically. OBJECTIVES: It was aimed to investigate circulating Lp-PLA2 levels and its relationship with CRP and ESR in patients with BD by considering disease activity. METHODS: Study group included 72 patients with BD (34 men and 38 women with a mean age of 35.3 years) and 30 sex- and age-matched healthy subjects (15 men and 15 women with a mean age 32.6 years). Patients group included 40 patients with active and 32 patients with inactive BD. RESULTS: Lp-PLA2 , CRP and ESR levels were found to be significantly higher in patient group than controls. In addition, those levels were also significantly higher in patients with active BD than in patients with inactive disease. Lp-PLA2 showed positive correlations with CRP and ESR (r = 0.63, P < 0.05 and r = 0.33, P < 0.05 respectively). Lp-PLA2 also showed significant important area under curve (AUC) value (0.779), besides CRP (0.941) and ESR (0.888). Optimum cut-off value was obtained as 218.5 ng/mL. CONCLUSIONS: It was concluded that Lp-PLA2 may be a new useful biomarker to evaluate clinical or subclinical activity of the disease besides CRP and ESR.

Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.

Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. In our study, Monilethrix was diagnosed on the basis of clinical characteristics and microscopic examination in a family with 11 affected members. Haplotype analysis was performed by three Simple Tandem Repeat markers (STR) and KRT86 gene was sequenced for the identification of the disease causing mutation. In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey.

Plasma polymorphonuclear leukocyte elastase levels and its relation to disease activity in psoriasis.

Although some increased enzyme activities in PMN leukocytes isolated from the circulation of psoriatic patients have been previously described, none of these enzymes had been studied in plasma for determination of disease activity. The purpose of this study was to evaluate whether plasma PMN elastase levels might be a good marker for determination of disease activity of psoriatic patients. Plasma PMN elastase and some acute phase reactants including alpha-1 antitrypsin, alpha-2 macroglobulin, fibrinogen, erythrocyte sedimentation rate(ESR), and transferrin were studied in thirty-nine patients with psoriasis, including 16 controlled patients, and forty healthy control subjects. PMN elastase and the acute phase reactants except transferrin were found to be significantly higher in the psoriatic patients than in control subjects. The PMN elastase level in the patients was about 6-fold higher than that of the control group. The PMN elastase levels in the patients in the inactive period was two-fold higher than in the control subjects. PMN elastase was found to correlate significantly with PMN leukocyte count and alpha-1 antitrypsin in active and inactive periods of the disease, but with fibrinogen and psoriasis area and severity index (PASI) only in the active period of the disease. We conclude that plasma PMN elastase level may be a more specific and sensitive inflammatory marker than alpha-1 antitrypsin, alpha-2 macroglobulin, ESR, and may be a good marker for diagnosis and follow up of the disease activity of the psoriatic patients.

Polymorphonuclear leukocyte elastase levels in patients with Behçet's disease.

Behçet's disease is a chronic multisystem disorder characterized by a relapsing inflammatory process of unknown aetiology. The increased activity of polymorphonuclear leukocytes (PMN) in Behçet's disease has been intensively studied. PMN elastase, an acute phase reactant, was investigated to determine whether it may serve as a biochemical marker in Behçet's disease. Erythrocyte sedimentation rate, protein electrophoresis, immunoglobulins (IgA, IgG, IgM), complement components (C3, C4) as well as PMN elastase were evaluated in 42 patients with Behçet's disease and 40 healthy subjects. The mean PMN elastase levels were found to be 244.2 micrograms/l (median 210 micrograms/l, S.D. 126.8) in patients with Behçet's disease and 44.3 micrograms/l (median 45, S.D. 19.2) in healthy subjects (P < 0.001). In addition, the mean PMN elastase levels were found to be 321.5 micrograms/l (median 300, S.D. 117.9) in the acute phase and 159 micrograms/l (median 162, S.D. 59.3) in remission (P < 0.001). It was concluded that PMN elastase may be a good biochemical marker for diagnosis and therapy control in patients with Behçet's disease.

Proteus syndrome associated with liver involvement: case report.

We report a patient with proteus syndrome who has epidermal nevus, right-sided asymmetric growth of extremities, pelvis, vertebrae and hemimegalencephaly. This patient also had enlargement of the liver which is not reported before in the proteus syndrome.

Cholesterol crystal embolism. Case report.

A 60-year-old man presented with a cholesterol crystal embolism that gave a rather confusing clinical picture. An immediate multidisciplinary approach established the diagnosis and the rapid, dramatic skin loss that exposed vital structures over his thigh and lower leg was reconstructed by an ipsilateral inferior pedicled rectus abdominis musculocutaneous flap with a lateral oblique cephalad fasciocutaneal component. The case, which a plastic surgeon would rarely encounter, is interesting because of the diagnostic approach and the management.

Lp(a) lipoprotein levels as a predictor of risk for thrombogenic events in patients with Behçet's disease.

OBJECTIVES: To investigate whether plasma levels of Lp(a) lipoprotein (Lp(a)) are predictors of defective fibrinolytic activity, leading to thrombosis, in patients with Behçet's disease. METHODS: Plasma Lp(a) was measured by enzyme linked immunosorbent assay, lipids and lipoproteins by enzymatic methods, and apolipoproteins A-I and B, fibrinogen (turbidimetric method), tissue plasminogen activator (t-PA), plasminogen activator inhibitor-1 (PAI-1), and D-dimer levels by enzyme immunoassay. Their levels and interactions were evaluated in 33 patients with Behçet's disease (including five with thrombotic complications) and 30 healthy control subjects. RESULTS: Plasma Lp(a) concentration was significantly greater in the patients than in controls. Nine patients (27%) had levels > 0.30 microgram. There was no correlation between Lp(a) and other lipids and lipoproteins apart from apolipoprotein B. Lp(a) showed inverse correlation with t-PA (r = -0.34, p < 0.05) and D-dimer (r = 0.35, p < 0.05). Patients with thrombotic complications had significantly greater Lp(a) and PAI-1, and lower D-dimer concentrations than control subjects. CONCLUSIONS: Measurement of plasma Lp(a) levels in patients with Behçet's disease may provide useful information regarding the potential development of thrombotic events, because of its possible role in defective fibrinolysis.

Amiodarone pigmentation, eye and thyroid alterations.

Amiodarone is an effective cardiac antiarytmic drug. Long-term, high dose use of the drug is associated with skin discolouration, corneal deposition and alterations in thyroid hormone levels. We present the case of a 61-year-old woman suffering from the combination of these three side-effects.

Behçet's disease with a large intracardiac thrombus: a case report.

Behçet's disease is recognised as a chronic multisystem disorder with vasculitis as its underlying pathological process. Cardiac involvement is rare and often associated with poor prognosis. A case of a 33 year old man with Behçet's disease, presenting with a large right ventricle and right atrial thrombus, is reported. Two dimensional (cross sectional), colour Doppler, and transoesophageal echocardiography, angiography, computed tomography, and magnetic resonance imaging were used to diagnose the disease. With cyclophosphamide and dexamethasone treatment, the cardiac lesions progressively resolved.