Persistent Symblepharon in an Infant Following Epidemic Keratoconjunctivitis

Epidemic keratoconjunctivitis (EKC), caused by certain species D human adenoviruses (Ads), is a highly contagious severe disease involving both the conjunctiva and cornea. The hallmark of this disease is the subepithelial infiltration of leukocytes, which results in corneal opacities that may persist for months or even years. In this case, of a 6-month-old infant, we report a symblepharon formation, a relatively rare outcome of EKC. In this condition, the palpebral conjunctiva adheres tightly to the bulbar conjunctiva of the eyeball. Our report is the first documentation of a symblepharon formation in an infant. Only two similar cases have been reported to date; therefore, a detailed description is of considerable interest to ophthalmologists. This is particularly interesting since a previous publication has associated symblepharon formation with an adenovirus infection, which is not usually involved in EKC. The development of a symblepharon following EKC is rare in infants. Since topical treatment cannot be applied due to severe eyelid edema, oral steroid therapy can be administered with pediatric consultation and meticulous monitoring.Â

Persistent Symblepharon in an Infant Following Epidemic Keratoconjunctivitis

Epidemic keratoconjunctivitis (EKC), caused by certain species D human adenoviruses (Ads), is a highly contagious severe disease involving both the conjunctiva and cornea. The hallmark of this disease is the subepithelial infiltration of leukocytes, which results in corneal opacities that may persist for months or even years. In this case, of a 6-month-old infant, we report a symblepharon formation, a relatively rare outcome of EKC. In this condition, the palpebral conjunctiva adheres tightly to the bulbar conjunctiva of the eyeball. Our report is the first documentation of a symblepharon formation in an infant. Only two similar cases have been reported to date; therefore, a detailed description is of considerable interest to ophthalmologists. This is particularly interesting since a previous publication has associated symblepharon formation with an adenovirus infection, which is not usually involved in EKC. The development of a symblepharon following EKC is rare in infants. Since topical treatment cannot be applied due to severe eyelid edema, oral steroid therapy can be administered with pediatric consultation and meticulous monitoring.

Administration of the fixed combination of latanoprost 0.005% and timolol 0.5% in glaucoma patients with an intraocular pressure over 30 mmHg

Yelda Buyru Özkurt, Tomris Sengor, Tufan Evciman, Melih Haboglu, Gökçen Bas, Sevda AydinFatih Sultan Mehmet Training and Research Hospital, Istanbul, TurkeyPurpose: To evaluate the intraocular pressure (IOP) reducing effect of a fixed combination of 0.005% latanoprost and 0.5% timolol in patients with an IOP of 30 mmHg or higher.Design: Prospective, randomized clinical trial.Participants: Twenty-eight patients.Methods: Patients had received no prior medical glaucoma treatment. Routine ophthalmic examinations and visual field tests were performed before and after treatment for each patient.Results: Mean IOP was 32.28 ± 0.92 mmHg before treatment. Mean IOP levels were 18.75 ± 0.68 for the first day, 17.96 ± 0.90 for the first week and 17.64 ± 0.66 for the first month after treatment.Conclusion: A fixed combination of latanoprost 0.005% and timolol 0.5% is effective in significantly reducing IOP in glaucoma patients with an IOP greater than 30 mmHg.Keywords: latanoprost, timolol, combination, glaucoma, intraocular pressure&nbsp

Common polymorphisms of growth hormone: Growth hormone receptor axis in Turkish children with short stature

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy. Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropo-metric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand confor-mation polymorphism techniques. Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy. Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.Istanbul Universit

Evaluation of the Relationship Between Age-related Macular Degeneration and Refractive Error, Socio-demographic Features, and Biochemical Variables in a Turkish Population

Objectives: To investigate the relationship between age-related macular degeneration (AMD) and refractive error and axial length, as well as the socio-demographic characteristics and biochemical variables that may affect this relationship. Materials and Methods: A total of 196 eyes of 98 patients over 50 years of age who were diagnosed with AMD at our clinic were included in this cross-sectional study. Early and late AMD findings were categorized according to the age-related eye disease study grading scale. Objective refractive error was measured by autorefractometer, confirmed by subjective examination, and spherical equivalent was calculated. Refractive errors of -0.50 D to 0.50 D were classified as emmetropia, 0.50 D as hyperopia. Axial length was measured by ultrasonic biometry and values ≤23.00 mm were classified as short, >23.00 and <24.00 mm as normal, and ≥24.00 mm as long axial length. Demographic, systemic, and biochemical parameters of all patients were also investigated. Results: Hypermetropic refractive error and shorter axial length were significantly more common than the other groups (p<0.01). No differences were observed between early and late stage groups in terms of refractive error and axial length. Patients with myopia had significantly lower values for total cholesterol, triglyceride, fasting blood glucose, and proportion of smokers. Rates of oral nutritional supplement use and fish consumption were significantly higher in the early AMD group. The most common comorbidity among the AMD patients in our study was essential hypertension. Conclusion: Hyperopic refractive error and shorter axial length were found to be associated with AMD. Longitudinal studies including larger patient numbers are needed to elucidate the causal and temporal relationship between hyperopic refractive error and AMD

Coexistence of K-ras mutations and HPV infection in colon cancer

BACKGROUND: Activation of the ras genes or association with human papillomavirus infection have been extensively studied in colorectal cancer. However, the correlation between K-ras mutations and HPV in colorectal cancer has not been investigated yet. In this study we aimed to investigate the presence of K-ras mutations and their correlation with HPV infection in colon cancer. METHODS: K-ras mutations were analyzed by a mutagenic PCR assay and digestion with specific restriction enzymes to distinguish the wild-type and mutant codons. HPV infection was analyzed by PCR amplification and hybridization with specific probes by Southern blotting. Stattistical analyses were performed by the chi-square and Fisher's exact tests RESULTS: HPV gene fragments were detected in 43 tumors and 17 normal tissue samples. HPV 18 was the prevalent type in the tumor tissue. A mutation at codon 12 of the K-ras gene was present in 31 patients. 56% of the HPV-positive tumors also harbored a K-ras mutation. Codon 13 mutations were not observed. These data indicate that infection with high risk HPV types and mutational activation of the K-ras gene are frequent events in colorectal carcinogenesis. CONCLUSION: Our findings suggest that mutational activation of the K-ras gene is a common event in colon carcinogenesis and that HPV infection may represent an important factor in the development of the premalignant lesions leading to the neoplastic phenotype

Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study

INTRODUCTION: Vitamin D receptor (VDR) polymorphisms have been inconsistently associated with breast cancer risk. Whether risk is influenced by polymorphisms in other vitamin D metabolism genes and whether calcium or vitamin D intake modifies risk by genotype have not been evaluated. METHODS: We conducted a nested case-control study within the Cancer Prevention Study II Nutrition Cohort of associations between breast cancer and four VDR single-nucleotide polymorphisms (SNPs), Bsm1,Apa1,Taq1, and Fok1, a poly(A) microsatellite, and associated haplotypes (baTL and BAtS). We also examined one SNP in the 24-hydroxylase gene (CYP24A1) and two in the vitamin D-binding protein (group-specific component [GC]) gene. Participants completed a questionnaire on diet and medical history at baseline in 1992. This study includes 500 postmenopausal breast cancer cases and 500 controls matched by age, race/ethnicity, and date of blood collection. RESULTS: Incident breast cancer was not associated with any genotype examined. However, women with the Bsm1 bb SNP who consumed greater than the median intake of total calcium (≥902 mg/day) had lower odds of breast cancer compared to women with the Bb or BB genotype and less than the median calcium intake (odds ratio 0.61, 95% confidence interval 0.38 to 0.96; p(interaction )= 0.01). Similar interactions were observed for Taq1 (T allele) and the poly(A) (LL) repeat. CONCLUSION: We found no overall association between selected vitamin D pathway genes and postmenopausal breast cancer risk. However, certain VDR gene polymorphisms were associated with lower risk in women consuming high levels of calcium, suggesting that dietary factors may modify associations by VDR genotype

Characterization of Novel and Uncharacterized p53 SNPs in the Chinese Population – Intron 2 SNP Co-Segregates with the Common Codon 72 Polymorphism

Multiple single nucleotide polymorphisms (SNPs) have been identified in the tumor suppressor gene p53, though the relevance of many of them is unclear. Some of them are also differentially distributed in various ethnic populations, suggesting selective functionality. We have therefore sequenced all exons and flanking regions of p53 from the Singaporean Chinese population and report here the characterization of some novel and uncharacterized SNPs - four in intron 1 (nucleotide positions 8759/10361/10506/11130), three in intron 3 (11968/11969/11974) and two in the 3′UTR (19168/19514). Allelic frequencies were determined for all these and some known SNPs, and were compared in a limited scale to leukemia and lung cancer patient samples. Intron 2 (11827) and 7 (14181/14201) SNPs were found to have a high minor allele frequency of between 26–47%, in contrast to the lower frequencies found in the US population, but similar in trend to the codon 72 polymorphism (SNP12139) that shows a distribution pattern correlative with latitude. Several of the SNPs were linked, such as those in introns 1, 3 and 7. Most interestingly, we noticed the co-segregation of the intron 2 and the codon 72 SNPs, the latter which has been shown to be expressed in an allele-specific manner, suggesting possible regulatory cross-talk. Association analysis indicated that the T/G alleles in both the co-segregating intron 7 SNPs and a 4tagSNP haplotype was strongly associated increased susceptibility to lung cancer in non-smoker females [OR: 1.97 (1.32, 3.394)]. These data together demonstrate high SNP diversity in p53 gene between different populations, highlighting ethnicity-based differences, and their association with cancer risk

p53 mutations in classic and pleomorphic invasive lobular carcinoma of the breast

Contains fulltext : 110338.pdf (publisher's version ) (Open Access)BACKGROUND: p53 is a tumor suppressor that is frequently mutated in human cancers. Although alterations in p53 are common in breast cancer, few studies have specifically investigated TP53 mutations in the breast cancer subtype invasive lobular carcinoma (ILC). Recently reported conditional mouse models have indicated that functional p53 inactivation may play a role in ILC development and progression. Since reports on the detection of TP53 mutations in the relatively favorable classic and more aggressive pleomorphic variants of ILC (PILC) are rare and ambiguous, we performed a comprehensive analysis to determine the mutation status of TP53 in these breast cancer subtypes. METHODS: To increase our understanding of p53-mediated pathways and the roles they may play in the etiology of classic ILC and PILC, we investigated TP53 mutations and p53 accumulation in a cohort of 22 cases of classic and 19 cases of PILC by direct DNA sequencing and immunohistochemistry. RESULTS: We observed 11 potentially pathogenic TP53 mutations, of which three were detected in classic ILC (13.6%) and 8 in PILC (42.1%; p = 0.04). While p53 protein accumulation was not significantly different between classic and pleomorphic ILC, mutations that affected structure and protein function were significantly associated with p53 protein levels. CONCLUSION: TP53 mutations occur more frequently in PILC than classic ILC.1 april 201