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At least 469 records · Page 26Linked to original sources

An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia.

We used polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis to detect a mutation in the low density lipoprotein receptor (LDLR) gene in a family of Iranian-Armenian origin. The mutation, designated FH Yrmeih, deletes two nucleotides from exon 10 of the LDLR gene, which causes a translational frameshift, whereby a truncated LDLR protein of the first 471 residues of the LDLR with an additional 41 abnormal residues and a premature stop codon would be created. The deletion was detected in a father and son with clinical features of heterozygous FH. To our knowledge this is the first pathogenetic LDLR mutation identified in FH patients of Iranian-Armenian ancestry.

Adolescent↗

HLA polymorphism in Israel. 8. The Armenian community in Jerusalem.

Gene and phenotype frequencies for the three HLA loci were determined for 90 random Armenians from the Old City of Jerusalem. Relatively high frequencies were found for HLA-A2, A3 and Aw24, while the lowest frequencies were those for Aw23 and Aw25. The major distinguishing antigen, when compared with European Caucasoids is Bw35 with a frequency of 22%. Two unusual associations between the B and C loci were observed: Bw 17, Cw3 and B7, Cw3. Another interesting association in Armenians, Aw32 Cw4, has previously been found only among Cochini Jews and Malay populations.

Armenia↗

HLA antigens in two Iranian populations: the Armenians and the Jews.

The distribution of HLA phenotype, genotype and haplotype frequencies was studied in two Iranian populations, the Armenians and the Jews. Although the frequencies of most antigens in the Armenians have approximately the average Jewish values, haplotype frequencies are quite different between the two populations. The frequencies of antigens in Iranian Jews are more similar to those in the Mazandaranies, a group of non-Jewish Iranians, than to the Jewish populations from Yemen and Cochin, India.

Armenia↗

Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6.

Familial Mediterranean Fever (FMF) is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyserositis. Although the biochemical defect is unknown, there are several immunologic abnormalities which have been described in this disease. To examine critically whether there is linkage between FMF and the immunogenetic region (major histocompatibility complex-MHC) on chromosome 6, including the HLA, BF, and GLO1 loci, blood samples from members of 13 nuclear Armenian families were tested for these genetic markers. These 13 families included 28 affected and 42 unaffected family members. Linkage could be excluded at 7.5% recombination with the HLA ABC and D loci. Linkage could be excluded at 2.5% recombination for GLO1. Linkage could not be excluded with BF individually, but can be rejected based on the haplotype data. No association was found with either BF, GLO1, and HLA DQ alleles. HLA DR4 was found more often in affected cases than in controls; however, after adjusting for the number of antigens tested this was not significant. Our results would appear to exclude the immunogenetic region on chromosome 6 from linkage with FMF in the Armenian population.

Alleles↗

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.

Arabs↗

The Armenian Eye Care Project: surgical outcomes of complicated paediatric glaucoma.

AIM: To review surgical results of the Armenian Eye Care Project's (AECP) efforts in paediatric glaucoma and to identify additional morbidity associated with its initial itinerant nature. METHODS: A non-randomised, retrospective historical cohort study of complicated paediatric glaucoma surgeries was performed by the AECP at the Republican Eye Hospital. 38 eyes of 34 paediatric patients underwent mitomycin C trabeculectomies (MMCT) (n = 20) or Ahmed glaucoma valve (AGV) placements (n = 18) for complicated paediatric glaucomas. The median age was 12.5 years with a range of 6-17 years. Three clinical groups were represented: congenital glaucoma, Frank Kamenetsky syndrome (a glaucoma associated with uveitis), and Rieger's syndrome. RESULTS: Preoperative and postoperative intraocular pressures were similar for the two groups (MMCT v AGV = 30 v 32 mm Hg and 13.5 v 14.8 mm Hg, respectively; p>0.05, t test). The AGV group was twice as likely to use medications postoperatively (44% v 23%; p<0.05, t test). The MMCT group was more likely to have a three line drop in visual acuity than the AGV group (28% v 12%; p<0.05, t test). The decreased visual acuity found postoperatively was most commonly secondary to cataract formation. CONCLUSION: Total success rates were similar in the two surgical treatment groups. These compared favourably with success rates reported for non-itinerant surgery. Postoperative complications worsened by the itinerant nature of the project were few and represented 5% of the total surgical interventions. Ultimately, the installation of fellowship trained specialists is the most effective approach to minimising this problem and is recommended by the AECP as a strategy for developing and recovering countries.

Adolescent↗

Discrete MBL-MASP complexes show wide inter-individual variability in concentration: data from UK vs Armenian populations.

Mannan-binding lectin (MBL) circulates in plasma in complex with MBL-associated serine proteases (MASP) -1, -2 and -3 and a smaller component, MAp19. When MBL binds to the surface of foreign material (microorganisms), MASP-1, -2, -3 are activated. MASP-2 then activates the complement system. MASP-1 and -3 may activate other (unidentified) systems. MBL levels, MBL-bound MASP-1 and MBL-bound MASP-2 activities have been evaluated in healthy individuals from UK and Armenian populations. MBL-bound MASP-2 activity declines in aging (P<0.04). MBL correlates with smoking (P<0.02). There were significant differences between the two populations in MBL-bound MASP-1 activity and in MBL, but no difference in MBL-bound MASP-2 activity. When MASP activities were normalised to MBL (i.e. MASP-1 activity/MBL, MASP-2 activity/MBL), normalised MASP-2 activity in UK individuals was more than 2 fold higher than in Armenians. The difference in normalised MASP-2 activity level between these two Caucasoid populations, suggests that concentration of the MBL-(MASP-2) complex, and therefore the function of activating complement, depends not only on the quantity of MBL in serum and its oligomeric state, but also on the quantity of MASP-2 in serum. It is likely that in individuals with high MBL concentration there is excess free MBL not occupied by MASPs, particularly not by MASP-2.

Adult↗

Raising awareness and providing free screening improves cervical cancer screening among economically disadvantaged Lebanese/Armenian women.

Women need to practice cervical screening regularly to reduce morbidity and mortality. The purpose of this study was to examine the impact of an intervention program on knowledge, attitude, and practice of cervical screening in the population of Lebanese/Armenian women. The design was a cross-sectional, quasi-experimental posttest survey following a year long intervention program. The sample included 176 women, who were members of the Armenian Relief Cross in Lebanon. Interventions consisted of educational classes, media messages, and free screening. The instrument was a self-administered questionnaire. Knowledge of women with intervention was higher (p > .05) and practice rate increased between intervention and comparison groups. No difference in attitude was noted. The study was successful in raising awareness and increasing screening in the sample. It is recommended to continue helping women to overcome barriers for cervical screening.

Adolescent↗