Combination of verteporfin photodynamic therapy and ranibizumab: effects on retinal anatomy, choroidal perfusion and visual function in the protect study.

OBJECTIVE: To evaluate verteporfin and same-day ranibizumab on retina, choroid, vasculature, choroidal neovascularisation (CNV) and visual function. METHODS: Eleven patients with occult or predominantly classic subfoveal CNV secondary to age-related macular degeneration received verteporfin and four monthly intravitreal ranibizumab injections. Eyes were examined using fluorescein angiography (FA) and indocyanine green angiography (ICGA), optical coherence tomography (OCT), visual acuity (VA) and microperimetry. RESULTS: Over 9 months, seven patients gained three to 24 letters and one had unchanged VA. Three patients lost eight to 24 letters due to recurrence and received another verteporfin treatment at month 6. Median retinal sensitivity of the central 4 degrees of the macula increased from 0.9 (SD 2.3) dB (baseline) to 5.2 (1.8) dB (only baseline verteporfin) and 4.1 (4.5) dB (second verteporfin treatment) at study end. OCT showed sub- and intraretinal leakage increased with verteporfin, but resolved after 2 weeks. After combination treatment, CNV was completely occluded on FA within 1 week. ICGA showed non-perfusion of small/medium choroidal vessels. Recovery of choroidal perfusion began after 1 month, but remained impaired throughout follow-up. CONCLUSION: Verteporfin/ranibizumab was associated with CNV occlusion, reduced oedema, improved visual function and retinal sensitivity. The clinical significance of these findings requires further investigation.

No influence of SLC22A4 C6607T and RUNX1 G24658C genotypic variants on the circulating carnitine ester profile in patients with rheumatoid arthritis.

OBJECTIVE: In a Japanese study, the C6607T SNP mapping to intron 1 of the SLC22A4 gene encoding the OCTN1 protein was found to be associated with rheumatoid arthritis. Similarly, a G24658C transversion in intron 6 of the gene encoding the RUNX1 transcription factor that regulates OCTN1 and also likely OCTN2 expression was also found to confer susceptibility to the disease. METHODS: We investigated the prevalence of these two SNPs by RFLP analysis in a cohort of 209 Hungarian rheumatoid arthritis patients, and 217 healthy controls. Since both the OCTN1 and OCTN2 play a central role in the transmembrane transport of carnitine, we also determined the quantitative serum carnitine ester profile by ESI tandem mass spectrometry. RESULTS: No statistically significant differences were found comparing the genotype prevalence rates between the patients and the controls for either the SLC22A4 genotypes or for the RUNX1 SNPs. There was no significant difference in the serum carnitine ester profile when the rheumatoid arthritis patients were compared with the controls; furthermore, no significant difference in the carnitine esters could be detected when genotype specific subgroups of the patients and the controls were studied. CONCLUSION: Data of the current study do not confirm the universal and population independent susceptibility role of the SLC22A4 C6607T and RUNX1 G24658C variants for rheumatoid arthritis; furthermore, the data presented here show, that there are no significant carnitine-metabolism associated functional consequences of the different genotypes evidenced by the lack of detectable differences in the carnitine ester profiles.

Central visual field impairment during and following cystoid macular oedema.

AIM: To determine differential light threshold values obtained with the Micro Perimeter 1 (MP1) in uveitis patients suffering from cystoid macular oedema (CMO) and to compare these measures to retinal thickness. METHODS: Static threshold perimetry was performed with the MP1 Microperimeter in 27 eyes of 21 patients with a history of chronically recurring CMO. Active CMO was confirmed in 19 eyes. Eight eyes with a history of recurrent CMO were found to have normal foveal contours in optical coherence tomography (OCT). Differential light threshold values (MP1) were compared with the corresponding retinal thickness measures (OCT). RESULTS: Mean differential threshold values within the central two degrees of the stimulation pattern were reduced compared with normal values and ranged from 5.8 to 9.5 dB in CMO eyes and from 9.3 to 12.9 dB in eyes with a normal foveal contour but a history of previous CMO. The corresponding mean retinal thickness ranged from 390 (SD 90) to 389 (88) microm (at 0 degrees and 1 degree, respectively) for active CMO and from 199 (36) to 211 (33) microm in eyes with normal fovea following CMO resolution. Statistical correlations between mean differential sensitivity threshold and retinal thickness were only weak and showed no association. CONCLUSIONS: Active CMO causes a marked reduction in central retinal sensitivity. In addition, following the resolution of the CMO, a substantial impairment of central retinal sensitivity remains. Morphology in terms of retinal thickness in OCT does not correlate with visual function in terms of retinal sensitivity in these patients.

Prevalence of functional haplotypes of the peptidylarginine deiminase citrullinating enzyme gene in patients with rheumatoid arthritis: no influence of the presence of anti-citrullinated peptide antibodies.

OBJECTIVE: Citrullinated peptides produced by enzymatic deimination of arginine residues in proteins by peptidylarginine deiminases are of particular interest in the pathogenesis of rheumatoid arthritis (RA). One type of citrullinated protein - the cyclic citrullinated peptide - is the target of the anti-cyclic citrullinated peptide antibody, the most sensitive and specific autoantibody in RA. The peptidylarginine deiminase type 4 (PADI4) gene, which codes one of the PADI enzyme isotypes, has genetic variants that confer susceptibility to RA in Asian, but not in European populations. METHODS: Genetic associations were examined in 214 Hungarian RA patients characterized for the presence of anti-CCP and rheumatoid factor. The patients were characterized for the existing haplotypes of the PADI4 gene (defined by the combinations of 4 exonic padi4_89: 163G/A, padi4_90: 245T/C, padi4_92: 335C/G, padi4_104: 349T/C and 2 intronic padi4_94: 17535226C/T and padi4_102: 17546809C/T variants) by the PCR-RFLP method. RESULTS: None of the PADI4 haplotypes was accumulated in RA patients. One new finding was that we also did not detect the accumulation of any haplotypes either in the anti-CCP or in the RF-positive subgroups of patients. CONCLUSION: The data presented here show that none of the naturally occurring haplotypes of the PADI4 gene conferred susceptibility to RA in an average group of Hungarian patients; this is in agreement with findings for other European populations. In addition, none of the functional PADI4 haplotypes were associated with the pathologic immune response, which was evidenced by the absence of accumulation of anti-CCP-positive subjects in the specific PADI4 haplotypes.

Survey of Raynaud's phenomenon and systemic sclerosis based on a representative study of 10,000 south-Transdanubian Hungarian inhabitants.

OBJECTIVES: To assess the prevalence of Raynaud's phenomenon (RP) and of RP associated systemic sclerosis (SSc) in a large regional representative study. METHODS: Ten thousand individuals aged between 14-65 years participated in face-to-face interviews. The stratified sample of the South-West Hungarian population was representative for age, sex and urban or rural residence. Individuals reporting complaints suggesting the presence of "clinically significant" RP were asked to undergo a clinical investigation. Patients showing complaints provoked by taking something out of the freezer (-20 degrees C) compartment of the refrigerator and/or whether they had experienced digital ulcers were sorted into this category. RESULTS: The overall prevalence of RP was at least 578.9/10,000, and the prevalence of "clinically significant" RP could be calculated as at least 87.7/10,000 inhabitants. In this latter group 17.2% of the cases had either established SSc or anticentromere antibody or scleroderma capillary pattern on nailfold capillaroscopy. SSc with "clinically significant" RP and/or ulcers was identified in a prevalence of 9.1/10.000 individuals, whilst there was a prevalence of 14.7/10,000 of RP with either anticentromere antibody or scleroderma capillary pattern. CONCLUSIONS: "Clinically significant" RP affects almost 1% of the population. We identified cases with early stages of scleroderma spectrum disorder showing either anticentromere autoantibody or scleroderma capillary pattern. The prevalence of SSc was found to be higher than expected. It is reasonable to screen "clinically significant" RP cases for scleroderma-related symptoms because this approach makes it possible to identify patients with both SSc and early scleroderma related symptoms.

[Problems of differential diagnosis in synovial sarcoma]. / Differenciáldiagnosztikai problémát okozó synovialis sarcoma.

The authors present a woman's case (age 50), who was hospitalised several times as she often had pain in her left leg and knee for one year. The pain increased in the last 2 months. The final diagnosis, the primer synovial sarcoma of the left knee was justified only post mortem. Not only this alteration in the knee caused the pain in the left leg. The symptoms of sciatic pain caused by lumbal discus herniation also occurred which made the diagnosis more difficult. Referring to relevant data in literature the authors analyse the differential diagnostic aspects of the final diagnosis and the clinical spectrum of the illness.