Mediterranean fever gene mutations in Greek patients with Behcet's disease.

OBJECTIVE: It is known that clinical similarities between Behcet's disease and Familial Mediterranean Fever have led to the hypothesis of a common pathogenesis. Familial Mediterranean Fever is caused by MEFV gene mutations coding for pyrin. Therefore, we examined whether these pyrin mutations are also associated with Behcet's disease. METHODS: Molecular testing for pyrin mutations was performed in 96 unrelated Greek patients with an established diagnosis of Behcets disease. The results were compared with an analysis for pyrin mutations in 140 unrelated healthy Greek controls. RESULTS: We found no pyrin mutations among the Behcet cases tested; this result is comparable with the control group. CONCLUSIONS: Pyrin gene mutations in Greek patients with Behcet's disease are not more common than those in the general population. This finding is not in agreement with the findings in other populations. It is suggested that screening for pyrin mutations not be included in the evaluation of Greeks suspected to have Behcet's disease.

Mediterranean fever gene mutations in greek patients with Behcet's disease / Mutacionesen el gen de la fiebre mediterránea en pacientes griegos con la enfermedadde Behçet

OBJECTIVE: It is known that clinical similarities between Behcet's disease and Familial Mediterranean Fever have led to the hypothesis of a common pathogenesis. Familial Mediterranean Fever is caused by MEFV gene mutations coding for pyrin. Therefore, we examined whether these pyrin mutations are also associated with Behcet's disease. METHODS: Molecular testing for pyrin mutations was performed in 96 unrelated Greek patients with an established diagnosis of Behcet's disease. The results were compared with an analysis for pyrin mutations in 140 unrelated healthy Greek controls. RESULTS:We found no pyrin mutations among the Behcet cases tested; this result is comparable with the control group. CONCLUSIONS: Pyrin gene mutations in Greek patients with Behcet's disease are not more common than those in the general population. This finding is not in agreement with the findings in other populations. It is suggested that screening for pyrin mutations not be included in the evaluation of Greeks suspected to have Behcet's disease.

OBJETIVO:Se sabe que las similitudes clínicas entre la enfermedad de Behçet y la fiebre mediterránea familiar han llevado a la hipótesis de una patogénesis común. La fiebre mediterránea familiar es causada por mutaciones en el gen MEFV que codifica la pirina. Por lo tanto, examinamos si estas mutaciones de la pirina se hallan también asociadas con la enfermedad de Behçet. MÉTODOS: La prueba molecular para la detección de las mutaciones de la pirina se realizó en 96 pacientes griegos no relacionados, y diagnosticados con la enfermedad de Behçet. Los resultados se compararon con un análisis de las mutaciones de la pirina en 140 controles formados por individuos griegos saludables. RESULTADOS: No se encontraron mutaciones de pirina entre los casos de Behçet sometidos a prueba. Este resultado es comparable con el grupo control. CONCLUSIONES: Las mutaciones del gen de la pirina en los pacientes griegos con la enfermedad de Behçet no son más comunes que las de la población general. Este hallazgo no concuerda con los hallazgos en otras poblaciones. Se sugiere que el tamizaje para la detección de las mutaciones de pirina no se incluya en la evaluación de pacientes griegos sospechosos de padecer la enfermedad de Behçet.

Unusual Gilbert's syndrome genotype in a Greek patient suffering from both Gilbert's syndrome and familial mediterranean fever. A case report.

Gilbert's syndrome is a genetically controlled non-hemolytic unconjugated hyperbilirubinemia, caused by reduced activity of UDP-glucoroniltransferase 1, an enzyme critical in bilirubin metabolism. Several molecular configurations may be implicated in a Gilbert's phenotype. Familial mediterranean fever (FMF) is an inherited acute relapsing inflammatory disorder, affecting Mediterranean and Middle East populations. The molecular basis of the disorder concerns the MEFV gene coding for a protein named pyrin; several point mutations of MEFV gene have been associated with the disease. The authors present an unusual patient co-affected by both Gilbert's syndrome and FMF who carried a peculiar Gilbert's genotype. The coexistence of these two genetic conditions seems to be rare but interesting as the potentially overlapping clinical symptoms may rise interesting diagnostic problems.

Preparation of silica-on-titania patterns with a wettability contrast.

The preparation of patterned inorganic surfaces consisting of silica (SiO2) and titania (TiO2) is described. The approach is based on a combination of standard photolithography and plasma-enhanced chemical vapor deposition. Silicon wafers coated with a titania layer (40 nm) were patterned by use of a positive photoresist and then a thin silica layer (10-40 nm) was plasma-deposited. The photoresist was removed by decomposition at 800 degrees C. The inorganic patterned surfaces possessed excellent high-temperature resistance. Since the silica patches were effectively dehydroxylated during the thermal treatment, the patterns consisted of moderately hydrophobic (silica) and hydrophilic (titania) domains with a significant wettability contrast (40 degrees for water). The surface was further hydrophobized with a self-assembled monolayer of fluoroalkylsilane (FAS) and exposed to UV light. The FAS layer was locally oxidized on the TiO2 patches and the wettability contrast was maximized to 120 degrees (the highest possible value on smooth surfaces).

Thermally- and photoinduced changes in the water wettability of low-surface-area silica and titania.

The surface properties of silica and titania are mainly determined by the presence, density, and type of terminal hydroxyl groups (Si-OH "silanol" and Ti-OH "titanol"). Thermal treatment at elevated temperatures causes dehydroxylation on both surfaces, confirmed by streaming potential and ToF-SIMS measurements. The magnitude of the zeta potential markedly decreases after heat treatment, but the IEP is not affected. The intensity ratio MOH(+)/M(+) (M = Si or Ti), which reflects the surface density of OH groups, also decreases noticeably after high-temperature treatment. The mechanism is condensation of adjacent silanol/titanol groups into siloxane/titanoxane bonds. Ultraviolet light (lambda = 254 nm) has little effect on silica but rapidly induces hydrophilicity on titania surfaces. There is a strong correlation between the amount of hydrocarbons adsorbed on the surface and the density of titanol groups (thence the water contact angle). The effect of UV radiation can be entirely attributed to photolytic decomposition of organic contaminants. Dehydroxylated titania and silica (at 1050 degrees C) show very different wetting behavior: silica is moderately hydrophobic (water contact angle of about 40 degrees), while titania is hydrophilic (0 degrees). This dissimilarity can be explained with a simple model estimating the van der Waals and acid-base interfacial interactions.

Familial Mediterranean fever associated pyrin mutations in Greece.

OBJECTIVE: To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. PATIENTS AND METHODS: 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) FMF diagnosis were studied. Eight point mutations of pyrin gene were tested by standard methods. Of the 62 patients tested, 48 were Greek, four were Jewish, seven were Armenian, and three were Arab. RESULTS: 42 patients were found to be homozygotes for pyrin mutations; 11 patients were found to carry only one of the tested mutations; in nine patients no mutations were detected. CONCLUSION: Molecular detection of pyrin gene mutations seems useful in confirming suspected cases, and in detecting asymptomatic cases, of Mediterranean fever in Greece. It may also be used as a screening tool within affected families.

Environmental surveillance of filamentous fungi in three tertiary care hospitals in Greece.

The environmental fungal load (FL) of three hospitals was studied in representative regions in Greece (Thessalonika, Northern Greece, Athens, Central Greece and Heraklion, Southern Greece). Air, surfaces and tap water from high-risk departments were sampled monthly during one year. Air FL was [median (range)] 10.6 (1.2-37), 5.5 (3-28.8) and 7.7 (3.1-12.1) cfu/m(3) at Thessalonika, Athens and Heraklion, respectively. Air FL was lower in winter and higher in summer and autumn but seldom above acceptable levels. Aspergillus spp. constituted 70.5% of the filamentous fungi isolated. Aspergillus niger was the most prevalent species in the air of all the hospitals followed by Aspergillus flavus and Aspergillus fumigatus. The least contaminated departments were the intensive care units, whilst most contaminated were the solid organ transplantation in Athens and haematology departments in Thessalonika. No correlation between fungal species, season, hospital or departments was observed. Sixty per cent of all surfaces examined yielded filamentous fungi and/or blastomycetes. While no fungi were recovered from water in Thessalonika and Athens, one-third of the samples in Heraklion (apart from those of ICU) yielded multiple fungal species. The higher air FL in Thessalonika and Athens was recorded in departments located close to renovation works. These findings suggest that the air and surface FL fluctuates over the year, is due to varying fungal species, but does not differ greatly among hospitals. The variation among hospitals, as well as the role of hospital water fungal contamination and appropriate measures to eliminate it, need further study.

Renal amyloidosis as a first manifestation of Familial Mediterranean Fever.

Amyloid nephropathy was the presenting symptom in a case of Familial Mediterranean Fever (FMF). As recent progress in molecular pathology permits the detection of asymptomatic FMF individuals, it is suggested that relevant cases of renal amyloidosis should be tested for FMF mutations.

Systemic lupus erythematosus presenting as myelofibrosis.

Myelofibrosis is not frequent in systemic lupus erythematosus (SLE). A review in the literature reveals that the co-incidence is rather rare since there are only a few papers reporting this combination. The female patient described hereby, presented with thrombocytopenia; following investigation, the diagnosis of SLE was established and bone marrow examination revealed an increase of marrow reticulin. Treatment with steroids reversed both thrombocytopenia and bone marrow fibrosis.

In vitro antifungal susceptibility of Candida.

To develop a simple, standardised procedure for antifungal susceptibility of yeasts, disc diffusion test was evaluated in comparison to agar dilution and the macrobroth dilution procedure of the National Committee for Clinical Laboratory Standards USA. One hundred Candida strains isolated from clinical material were used against four antifungal agents (amphotericin B, 5-flucytosine, ketoconazole and fluconazole). Inoculum size of 10(6) yeasts/ml just failed to produce confluent colonies at 37 degrees C after 48 h on yeast nitrogen-glucose-agar with or without asparagine medium. The zones of inhibition were correlated with both broth and agar dilution minimum inhibitory concentrations (MICs). The results were found to correlate well using amphotericin B, 5-flucytosine and fluconazole (with broth dilution only). But there was no significant correlation using ketoconazole. Therefore, disc diffusion susceptibility testing of Candida strains appears to be generally applicable except for azoles where broth dilution test would confirm the resistant isolates.

Effect of selective depletion of fibrinogen on the evolution of cholesterol-induced atherosclerosis in rabbits.

Atherosclerosis was produced by induced alimentary hyperlipaemia in four groups of rabbits. Animals of groups II and III received cholesterol feeds daily for 2 months while in groups IV and V this was followed by another 3 months of intermittent feeding. Group I comprised normal control rabbits. Selective fibrinogen depletion was produced in groups III and V with Arvin so as to maintain the plasma fibrinogen around 100 mg/dl over the last 2 months of cholesterol feeding. Serum lipids, blood coagulation and euglobulin clot lysis as well as the post mortem histopathology of aorta, heart, kidneys, liver and lungs did not reveal any significant differences between corresponding groups of hyperlipaemic animals treated with (groups III and V) or without (groups II and IV) Arvin. It appears that fibrinogen or fibrin incorporation does not play a significant role in the pathogenesis of atherosclerotic lesions induced in rabbits by cholesterol feeding.