Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis.

We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139). Both single nucleotide polymorphisms (SNPs) were associated with the risk of spondyloarthritis [odds ratio (OR) 1.80, 95% confidence interval (CI) 1.24-2.62, P = 0.001 for rs30187, OR 1.58, 95% CI 1.07-2.34, P = 0.02 for rs27044]. The CC haplotype was a protective factor (P = 0.002), while the TG haplotype was a risk factor (P = 0.01) for spondyloarthritis. The SNP rs30187 was also associated with the risk of HLA-B27+ AS. For the general group of AS, the carriers of minor alleles showed an increased risk for the disease (OR 1.92, 95% CI 1.17-3.13 for rs30187, OR 1.74, 95% CI 1.08-2.80 for rs27044). This is the first study that shows the association of ERAP1 gene variants and haplotypes with HLA-B27 positive spondyloarthritis.

HLA-C locus and genetic susceptibility to psoriatic arthritis in Romanian population.

We determined the distribution of human leukocyte antigen-C (HLA-C) allelic groups in a cohort of psoriatic arthritis (PsA) patients and a control population of Romanian ethnicity. A nominal association of HLA-C*06 with susceptibility to PsA was observed [P = 0.014, p(corr) > 0.05, odds ratio (OR) 2.1, 95% confidence interval (CI) 1.08-4.46]. When subanalyzing data according to PsA clinical phenotypes, association was noticed between HLA-C*06 and PsA with psoriasis onset before 40 years (p(corr) = 0.013, OR 3.7, 95% CI 1.58-9). This first report from Romania confirmed the association of HLA-C*06 with type I psoriasis in PsA patients. Other study findings, such as the relationship between HLA-C*06 and spondylitis or the protective effect of HLA-C*07 for the polyarthritis clinical phenotype of PsA, are of preliminary character and require verification.

Distribution of HLA-B27 in Romanian spondyloarthritides patients.

The analysis of 310 Romanian spondyloarthritides patients confirmed the association of the HLA-B27 marker with the susceptibility to different diseases of this group. For ankylosing spondylitis, the HLA-B27 frequency in Romanian patients (72.1%) was similar to that found in several regions in the Mediterranean area.

[Sympathetic ophthalmia]. / Sympathische Ophthalmie.

Sympathetic ophthalmia is a rare, bilateral granulomatous uveitis that occurs after either surgical or accidental trauma to one eye. The etiology is still not completely clear, but evidence suggests that sympathetic ophthalmia represents an autoimmune inflammatory response against choroidal melanocytes mediated by T cells. Key features are vision impairment and symptoms associated with inflammation. The diagnosis is based on a history of previous ocular trauma or surgery and clinical findings. Differential diagnoses include other causes of granulomatous uveitis, such as Vogt-Koyanagi-Harada disease, sarcoidosis, tuberculosis, and syphilis. Depending on the suspected etiology, treatment of sympathetic ophthalmia consists of systemic anti-inflammatory agents, including corticosteroids and immunomodulating drugs. The role of enucleation after the diagnosis of sympathetic ophthalmia remains controversial. Visual prognosis is reasonably good with prompt appropriate wound repair and immunomodulatory therapy. As the occurrence of sympathetic ophthalmia is probably more frequent following vitreoretinal surgery, more attention has to be paid to this potentially bilateral blinding disorder.

[Surgical correction of severe astigmatism following keratoplasty]. / Operative Korrektur des starken Astigmatismus nach Keratoplastik.

Corneal astigmatism after keratoplasty can be treated optically or surgically. If a step forms after surgery or after removal of the sutures, resuturing is necessary. In cases of extreme astigmatism which are optically not correctable, surgical methods such as keratotomy, keratocauterization or keratoresection have been suggested. The excision of a corneal wedge, introduced in 1975, is a useful method which has now become established. The technique and the results in 8 cases are presented.

[Refractometry after treating with atropine and cyclopentolat in childhood (author's transl)]. / Zykloplegierefraktion bei Kindern.

Using Rodenstock's Refraktometer refractometry was done on 314 hyperopic children (3--14 years) first after treating with Atropine and some weeks later after Cyclopentolat-hydrochlorid. 53,1% of them showed higher hyperopia after Atropine than after Cyclopentolat, the maximum in difference was 1,75 dptr. In another group of children with Cyclopentolat-treating the residual accommodation was determined by four different methods (Refactometer, Apparatus of Schober, Phoropter in a distance of 5,0 and 0,4 mtrs). The results show a minimum of accommodation 45 minutes after application of the drops under special conditions. These conditions are reported as well as a method of correction of hypermetropia due to the values of refractometry or residual accommodation.

[The diagnostic efficiency of tonography]. / Zur diagnostischen Effizienz der Tonographie.

There are three methods for increasing the diagnostic efficiency of tonography: The improvement of tonographical technique, the combination of tonography with provocative tests and methods of mathematical differentiation. Our own bulbar-compression isotonographical method is described. This method allows a choice of different pressure gradients. Our method was applied to 28 normal and 40 glaucomatous eyes. This method was carried out twice on all patients using two pressure gradients: Pt = Po + 30 and Pt = Po + 10. Also, the outflow facility (L) was determined by Grant's tonography. Thus, 3 L-values were obtained with 3 varying pressure differences (Pt -- Po = deltaP). With this differential tonography the mathematical determination and the graphic representation of a real L-value (Ldiff) by deltaP = 0 are possible. With normal eyes the average L-values were indirectly proportional to the pressure differences. This relationship was found to be directly proportional to glaucomatous eyes. The tonographical coefficients Po/L, P3/L3-7,Po -- 10/L and Po/Lintegral were calculated on 104 normal and 312 glaucomatous eyes. The diagnostic efficiency of tonography is increased by the determination of Ldiff (percentage of positive values = 70%) and the calculation of Po/Ldiff value (95%).

[Combined contactoptical system (author's transl)]. / Kombiniertes kontaktoptisches System

The indications and the adaptation method of a combined contactoptical system called piggy-back system, are dealt with. This system comprises the adaptation of a soft contact lens on which is applied afterwards, a hard one. The optical and the therapeutic results obtained in 7 groups of patients (56 eyes) with astigmatism, aphakia, keratokonus, keratoplasty, injuries, chronic lesions of the epithelium, and hyposecretion of the tear fluid, are discussed together with the results of the adaptation of the lenses.

Methods of mathematical differentiation in tonography.

Our bulbar-compressure isotonographical method was applied to 28 normal and 40 glaucomatous eyes. This method was carried out twice on all patients using two pressure gradients: Pt=Po+10 and Pt=Po+30. Also, the outflow facility (C) was determined by Grant's tonography. Thus, 3 C-values were obtained with 3 varying pressure differences (Pt-Po=deltaP). With this differential tonography the mathematical determination and the graphic representation of a real C-value (Cdiff) by deltaP=O are possible. With normal eyes the average C-values were indirectly proportional to the pressure differences. This relationship was found to be directly proportional on glaucomatous eyes. The tonographical coefficients Po/Co-4, P3/CL3-7, Po-10/Co-4, and Po/Cintegral were calculated on 104 normal and 312 glaucomatous eyes. The results show small differences between the average values of the various coefficients for normal and glaucomatous eyes. The percentage of the pathological values on glaucomatous eyes varies from 57.4% to 67.3%. The diagnostic efficiency of the tonography is increased by the determination of Cdiff (percentage of positive values=70%) and the calculation of Po/Cdiff value (95%).