Clinical and morphological evaluation of gold micro shunt after unsuccessful surgical treatment of patients with primary open-angle glaucoma.

PURPOSE: To report the clinicopathologic features in a series of patients after ineffective glaucoma surgery with gold micro shunts (GMS) 2 years after the procedure. METHODS: This was an interventional case series study including two cases of GMS and two of GMS+ removal. Each specimen was sectioned into three portions: proximal, middle, and distal, and embedded into paraffin blocks, cut into 3 µm sections and stained with hematoxylin and eosin and Masson's trichrome. In the case of inflammatory infiltrations a reaction with an LCA (CD45) monoclonal antibody was performed. RESULTS: Mean IOP before GMS removal was 28.8 ± 4.3 mm Hg, and the patients were administered 2.3 ± 0.5 anti-glaucoma drugs. The progression of changes in the visual field was observed in all cases. In three cases different grade intensification of corneal decompression was observed. Colonization of the connective tissue was found in the channels and around the microimplant in all cases. In two cases infiltration was detected from giant polynuclear and mononuclear cells. CONCLUSIONS: Connective tissue colonization was the cause of GMS obstruction. This can be a non-inflammatory process, but it may also result from chronic inflammation occurring in the suprachoroidal space.

Antinuclear and antiphospholipid antibodies in patients with multiple sclerosis.

The prevalence of autoantibodies in multiple sclerosis (MS) patients and their clinical associations differ between various studies. This study investigated antiphospholipid and antinuclear antibodies in 85 patients with multiple sclerosis (MS) and clinically isolated syndrome (CIS) with regard to their association with demographic features, MS specific clinical features and symptoms of connective tissue diseases. Autoantibodies tested included antinuclear antibodies (ANA) with their specificities and anticardiolipin (aCL) and anti-beta-2-glycoprotein I (anti-ß2GPI) antibodies. Antinuclear antibodies were more prevalent in MS patients than in controls (63.5% vs. 3.3%; p < 0.01) and in 19% of patients specific antinuclear antibodies were detected. Anti-ß2GPI IgM antibodies were more frequent in MS patients than in the control group (20% vs. 3.3%; p < 0.05). The frequency of anticardiolipin antibodies did not differ between MS patients and controls. MS patients seropositive for ANA and extractable nuclear antigens (ENA) had significantly shorter disease duration than seronegative patients (p < 0.05) and a lower disability score (Expanded Disability Status Score; EDSS) (p < 0.05). Anti-ß2GPI antibodies were more frequent in patients with secondary progressive MS (SP-MS) and specific ANA antibodies were more frequent in patients with clinically isolated syndrome (CIS) (p < 0.05). The presence of autoantibodies was not associated with the predominant site of neurological involvement or the clinical features of connective tissue diseases.

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.

Bardet-Biedl syndrome (BBS) is an autosomal recessively inherited ciliopathy mainly characterized by rod-cone dystrophy, postaxial polydactyly, obesity, renal tract anomalies, and hypogonadism. To date, 14 BBS genes, BBS1 to BBS14, have been identified, accounting for over 75% of mutations in BBS families. In this study, we present a consanguineous family from Pakistan with postaxial polydactyly and late-onset retinal dysfunction. Adult affected individuals did not show any renal or genital anomalies, obesity, mental retardation or learning difficulties and did thus not fulfill the proposed clinical diagnostic criteria for BBS. We mapped the disease in this family to the BBS12 locus on chromosome 4q27 and identified the novel homozygous p.S701X nonsense mutation in BBS12 in all three affected individuals of this family. We conclude that BBS12 mutations might cause a very mild phenotype, which is clinically not diagnosed by the current diagnostic criteria for BBS. Consequently, we suggest the use of less strict diagnostic criteria in familial BBS families with mild phenotypic expression.

A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.

UNLABELLED: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D: Mucopolysaccharidosis type IIID (MIM 252940) is the least common form of the four subtypes of Sanfilippo syndrome. It is an autosomal recessive lysosomal disorder caused by a deficiency of the N-acetylglucosamine-6-sulphatase (GlcNAc-6S sulphatase, GNS), a hydrolase, which is one of the enzymes involved in heparan sulfate catabolism leading to lysosomal storage. The clinical features of this disorder are progressive neurodegeneration with relatively mild somatic symptoms. Twenty patients have been described in the literature and only seven causative mutations in the GNS gene encoding GlcNAc-6S sulphatase have been reported to date. We present the clinical and molecular results of a newly diagnosed Turkish patient with MPS IIID. We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X). CONCLUSION: This novel mutation provides further evidence that loss-of-function is the underlying pathophysiological mechanism of this rare phenotype.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hearing loss is the most frequent sensorineural disorder affecting 1 in 1000 newborns. In more than half of these babies, the hearing loss is inherited. Hereditary hearing loss is a very heterogeneous trait with about 100 gene localizations and 44 gene identifications for non-syndromic hearing loss. Transmembrane channel-like gene 1 (TMC1) has been identified as the disease-causing gene for autosomal dominant and autosomal recessive non-syndromic hearing loss at the DFNA36 and DFNB7/11 loci, respectively. To date, 2 dominant and 18 recessive TMC1 mutations have been reported as the cause of hearing loss in 34 families. In this report, we describe linkage to DFNA36 and DFNB7/11 in 1 family with dominant and 10 families with recessive non-syndromic sensorineural hearing loss. In addition, mutation analysis of TMC1 was performed in 51 familial Turkish patients with autosomal recessive hearing loss. TMC1 mutations were identified in seven of the families segregating recessive hearing loss. The pathogenic variants we found included two known mutations, c.100C>T and c.1165C>T, and four new mutations, c.2350C>T, c.776+1G>A, c.767delT and c.1166G>A. The absence of TMC1 mutations in the remaining six linked families implies the presence of mutations outside the coding region of this gene or alternatively at least one additional deafness-causing gene in this region. The analysis of copy number variations in TMC1 as well as DNA sequencing of 15 additional candidate genes did not reveal any proven pathogenic changes, leaving both hypotheses open.

[The susceptibility of Aspergillus and Penicillium to recent antimycotics]. / Ocena in vitro grzybów z rodzaju Aspergillus i Penicillium na nowe leki przeciwgrzybicze.

Fifty four mould strains (32 Aspergillus and 22 Penicillium) isolated from clinical materials were tested using dilution method. Two test media were used: Yeast Nitrogen Base (YNB) and Czapek Dox (CD). The following drugs were tested: amorolfine, cyclopirox, itraconazole, and terbinafine. In the dilution method, the drugs were tested at four contrentrations: 0.1 mg/l, 1 mg/l, 10 mg/l, and 100 mg/l. No matter which medium and/or drug was used, terbinafine turned out to be most effective. The drug at a conceatration of 1 mg/l inhibited 88.9% of the strains in the CD medium. The MIC values in the YNB medium varied from 0.1 mg/l through 100 mg/l, however, 50% of the strains were inhibited at 1 mg/l or less. Itraconazole revealed a fairly good in vitro antifungal action, particularly in the CD medium: 77.8% of the strains were inhibited at 10 mg/l or less. Aspergillus fumigatus and Aspergillus flavus were most susceptible to itraconazole. The MIC values of cyclopirox amounted to 100 mg/l for all of the strains in the CD medium but not in the YNB where they varied from 1 mg/l to 100 mg/l. Amorolfine was the least effective drug. Most of the strains were inhibited at a concentration of at least 100 mg/l. The findings give evidence that the susceptibility of Aspergillus and Penicillium to the particular drugs is different, and that the results are influenced by the test medium.

[Antifungal activity of fluconazole in vitro]. / Przeciwgrzybicza aktywnosc flukonazolu in vitro.

The susceptibility of 97 fungal strains to fluconazole was evaluated using the dilution method. Forty-three of the strains were C. albicans, fifty-three other Candida species and one S. cerevisiae. The MIC values varied from 0.1 mg/l to 100 mg/l. However, the growth of 75.2% of the strains was considerably inhibited at 0.1 mg/l. Forty-nine strains were tested using both the dilution and disk-diffusion methods. The findings were consistent. The latter method may be performed on YNB medium and is of practical value.

[Candida parapsilosis in reproductive organ infections]. / Grzyby Candida parapsilosis w zakazeniach dróg rodnych.

Frequency of occurrence of strains of C. parapsilosis, their susceptibility to drugs and importance in pathogenesis of vaginal mycosis, was evaluated. Strains of C. parapsilosis were isolated in 44 cases which comprises 1.34% of a total number of 3275 tested Candida-like strains. Vaginal mycoses occurred in presence of Lactobacillus sp., normal pH values of vaginal contents, whereas leukocytosis was differing. Following drugs were used for testing susceptibility of C. parapsilosis: nystatin, pimaricin, amphotericin B, flucytosine, cotrimoxazole, miconazole, ketoconazole, tioconazole, fluconazole and itraconazole. It has been demonstrated that 38.3% strains of C. parapsilosis were exhibiting lowered activity toward amphotericin B, nystatin (23.5% resistant) and flucytosine (11.7% resistant). Tested strains were susceptible to remaining drugs within 94.1% and 100%.

[Evaluation of susceptibility of dermatophytes to antifungal drugs]. / Ocena wrazliwosci dermatofitów na leki przeciwgrzybicze.

A serial dilution and a disc method were used for evaluation of susceptibility of 50 dermatophyte strains belonging to the species Trichophyton rubrum, Trichophyton mentagrophytes, Microsporum canis and Epidermophyton floccosum. Following drugs were investigated: griseofulvin, pimaricin, clotrimoxazole, miconazole, ketoconazole, biphonazole and naftifin. Application of two methods of testing resulted in high convergence of determinations. Naftifin was most effective and pimaricin least active. Among imidazole drugs, relatively high activity against dermatophytes was exhibited by clotrimoxazole and ketoconazole. Strain of Trichophyton rubrum were more susceptible to antifungal drugs than strains of Trichophyton mentagrophytes.

[Candida krusei in genital infections]. / Grzyby Candida krusei w zakazeniach dróg rodnych.

Frequency of appearance of Candida krusei in human reproductive tract, susceptibility of these microorganisms to drugs and their importance in pathogenesis of mycosis, were investigated. Strains C. krusei species constituted 6.7% of the total 1325 strains and 21.8% within other than C. albicans species yeast-like fungi. Vaginal mycosis caused by fungi from C. krusei species occurs in presence of Lactobacillus sp. and correct values of pH in vaginal contents, however changed leukocytosis in evident. Over 60% of patients with C. krusei infection were complaining that they feel disturbances within the reproductive tract. Investigation of susceptibility of C. krusei to drugs revealed highest activity of cotrimazine and pimaricin.

[The role of Candida kefyr (C. pseudotropicalis) in reproductive tract infections]. / Rola grzybów Candida kefyr (C. pseudotropicalis) w zakazeniach dróg rodnych.

Frequency of appearance of C. kefyr strains, their diagnosis, susceptibility to drugs and importance in pathogenesis of reproductive tract mycoses were investigated. The investigated material consisted of 2717 strains, and there were 67 strains of C. kefyr isolated from vaginal mucous membrane. C. kefyr strains constituted 2.5% of total number of 2717 isolated strains and 8.2% within fungi other than C. albicans species. Vaginal mycosis caused by C. kefyr occurs in presence of Lactobacillus sp. and correct values of pH in vaginal contents, however changing leukocyte number was observed. Clinical symptoms and complaints regarding reproductive tract were present in 47.8% of patients with C. kefyr infections. Investigating susceptibility to antimycotic drugs, regardless of appointed method, low susceptibility of C. kefyr strains to amphotericin B was noted (79% resistant strains). Strain of C. kefyr were sensitive to all remaining drugs.

Cadmium availability to the cyanobacterium Synechocystis aquatilis in solutions containing chloride.

Availability of cadmium to Synechocystis aquatilis (estimated by 109Cd sorption and cadmium toxicity-14C method) in solutions containing cadmium and complexing (KCl) or non-complexing (KNO3) salts, in the range of 0-0.5 m was investigated. Both cadmium surface adsorption and transport into the cells were lower in solutions containing cadmium chloride complexes (CdCl+, CdCl2, CdCl3-) than in those containing cadmium in the form of Cd2+. Also, cadmium toxicity in solutions of higher KCl concentrations, in which CdCl+ and CdCl2 forms predominated, was significantly limited.

The influence of pH on cadmium toxicity to the green alga Stichococcus bacillaris and on the cadmium forms present in the culture medium.

Cadmium toxicity to the green alga Stichococcus bacillaris was investigated in media of pH 3-9. A significant decrease of cadmium toxicity occurred in both the acidic and alkaline ranges of pH. In media of pH 3 and 9, cadmium did not affect the dry mass content substantially. Maximum toxicity of cadmium was noticed at pH 6-7. Voltametric investigations showed a significant effect of pH on electrochemically measured cadmium content in the culture media. Hydrolysis of the medium components and formation of cadmium complexes with OH(-) ions caused a considerable decrease in amounts of electrochemically measured cadmium in the alkaline range of pH.

[Interpersonal decentration in studies of schizophrenia]. / Decentracja interpersonalna w badaniach nad schizofrenia.

The aim of the work was to establish the difference in the ability to interpersonal decentration between subjects suffering from schizophrenia and mentally healthy controls. The studies performed were also the basis for creation the hypothetical pattern of the deficit in interpersonal decentration which characterizes the behaviour of schizophrenics. Mentally ill patients presented lower level of decentric abilities in comparison with healthy controls. Presented empiric results showed that the specificity of interpersonal decentration (which was understood as an ability to, and actually realized behaviour) was based on extremely subjective outlook of reality which causes the elongation of psychological distance between patient and his/her social environment.

[Occurrence and the sensitivity to drugs of fungi other than Candida albicans isolated from the vagina]. / Czestosc wystepowania i wrazliwosc na leki grzybów innych niz Candida albicans izolowanych z pochwy.

Frequency of occurrence of fungal species distinct from C. albicans isolated from vaginal mucosa and their sensitivity to antimycotic chemotherapeutics was determined. Material consisted of 452 fungal strains isolated from vagina from patients suffering from afflictions within genital area. Fungal strains isolated belonged to 13 genera. Fungi distinct from C. albicans constituted 27.1% of all the strains. Fungi the most frequently isolated from vagina belonged to following genera: T. glabrata 35.2% C. krusei 18.4% C. pseudotropicalis 15.2% S. cerevisiae 10.4%. In the majority of cases of vaginal infections caused by fungi distinct from C. albicans, Lactobacillus sp. was present and normal pH values of vaginal content 3/4 with variable number of leucocytes were observed. Evaluation of sensitivity to antimycotic drugs of fungal strains was performed by agar dilution technique. In this study the following chemotherapeutics were assayed: nystatin, pimaricin, amphotericin B, flucytosine, clotrimazole, miconazole and ketoconazole. It is worth to underline resistance of T. glabrata and S. cerevisiae to clotrimazole and ketoconazole. Moreover, resistance of strains belonging to genera C. krusei and C. pseudotropicalis to amphotericin B and C. krusei strains to nystatin and flucytosine was noted.

[Diagnostic and clinical characteristics of mycotic vaginitis caused by Candida glabrata (Torulopsis glabrata)]. / Charakterystyka diagnostyczna i kliniczna waginozy grzybiczej wywolanej przez Candida glabrata (Torulopsis glabrata).

In this study an evaluation of frequency of occurrence of C. glabrata, its diagnosis, sensitivity to antifungal drugs and its significance in pathogenesis of mycotic vaginosis was performed. Strains belonging to C. glabrata genus constituted 12.1% of total of 852 isolated strains and 39.2% of strains other than C. albicans. During fungal vaginosis caused by C. glabrata Lactobacillus sp. was present and normal pH values of vaginal secretion were seen. In direct preparations single or few leukocytes were observed and usually numerous blastospores were present. During evaluation of the sensitivity of C. glabrata strains to antimycotic agents a decreased sensitivity of these strains to clotrimazole and ketoconazole was found what speaks for their low usefulness in the treatment of mycotic vaginosis. Significance of C. glabrata in pathogenesis of mycotic vaginosis is not questioned since release of complaints and clinical symptoms in patients with positive therapeutic effect is seen and their persistence in a group of patients with treatment failure.