Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study.

BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of vision loss in elderly, Caucasian populations. There is strong evidence that mitochondrial dysfunction and oxidative stress play a role in the cell death found in AMD retinas. The purpose of this study was to examine the association of the Caucasian mitochondrial JTU haplogroup cluster with AMD. We also assessed for gender bias and additive risk with known high risk nuclear gene SNPs, ARMS2/LOC387715 (G > T; Ala69Ser, rs10490924) and CFH (T > C; Try402His, rs1061170). METHODS: Total DNA was isolated from 162 AMD subjects and 164 age-matched control subjects located in Los Angeles, California, USA. Polymerase chain reaction (PCR) and restriction enzyme digestion were used to identify the J, U, T, and H mitochondrial haplogroups and the ARMS2-rs10490924 and CFH-rs1061170 SNPs. PCR amplified products were sequenced to verify the nucleotide substitutions for the haplogroups and ARMS2 gene. RESULTS: The JTU haplogroup cluster occurred in 34% (55/162) of AMD subjects versus 15% (24/164) of normal (OR = 2.99; p = 0.0001). This association was slightly greater in males (OR = 3.98, p = 0.005) than the female population (OR = 3.02, p = 0.001). Assuming a dominant effect, the risk alleles for the ARMS2 (rs10490924; p = 0.00001) and CFH (rs1061170; p = 0.027) SNPs were significantly associated with total AMD populations. We found there was no additive risk for the ARMS2 (rs10490924) or CFH (rs1061170) SNPs on the JTU haplogroup background. CONCLUSIONS: There is a strong association of the JTU haplogroup cluster with AMD. In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170) genes were significantly but independently associated with AMD. SNPs defining the JTU mitochondrial haplogroup cluster may change the retinal bioenergetics and play a significant role in the pathogenesis of AMD.

The efficacy of a midfacial seal drape in reducing oculofacial surgical field fire risk.

PURPOSE: To evaluate the efficacy of a midface seal drape in eliminating fire risk oxygen concentrations from nasal cannulated oxygen delivery compared with a standard open oculofacial surgical field. METHODS: Controlled experiment using the SimMan patient simulator and an oxygen detector. Oxygen concentrations were measured at 9 facial surgical locations with nasal cannula flow rates of 2, 4, and 6 l/min of 100% FiO2 in both the draped and undraped conditions. RESULTS: The mean oxygen concentration in the oculofacial surgical field with the seal drape was 21.4% and 26.3% without (p = 0.0002; paired t test, 2-tailed). The draped condition provided safe oxygen concentration levels at all anatomical landmarks at all 3 flow rates, whereas the undraped condition was associated with suprathreshold oxygen concentration levels at 13 of 27 measurements. There was a direct correlation between oxygen flow rate and surgical field oxygen concentration in the undraped condition. CONCLUSIONS: A midfacial seal drape reduced oxygen concentrations from nasal cannula oxygen in the oculofacial surgical field and may reduce fire risk.

Bilateral upper and lower eyelid severe psoriasiform blepharitis: case report and review of literature.

The purpose of the present study is to describe a case of severe, psoriasiform blepharitis by means of a case report and literature review. A 44-year-old man developed chronic blepharitis and tearing months after bilateral cataract surgery. Exam showed diffuse quad-eyelid erythema, discharge, edema, madarosis, and scale. He also had insufficient tear drainage due to bilateral upper eyelid cicatricial punctal atresia with bilateral lower eyelid punctal stenosis. Biopsy of the lower eyelids exhibited psoriasiform hyperplasia. Topical 0.1% tacrolimus achieved improvement but caused some subjective eye irritation. Psoriasiform dermatitis manifesting on the eyelids is rare, may be associated with insufficient tear drainage, and may respond favorably to 0.1% tacrolimus.

A Prospective Longitudinal Study to Investigate Corneal Hysteresis as a Risk Factor for Predicting Development of Glaucoma.

PURPOSE: To investigate the role of corneal hysteresis (CH) as a risk factor for development of glaucoma. DESIGN: Prospective observational cohort study. METHODS: Two hundred and eighty-seven eyes of 199 patients suspected of having glaucoma were followed for an average of 3.9 ± 1.8 years. All eyes had normal visual fields at baseline. Development of glaucoma was defined as occurrence of 3 consecutive abnormal standard automated perimetry tests during follow-up, defined as pattern standard deviation (PSD) < 5%, and/or Glaucoma Hemifield Test outside normal limits. Measurements of CH were acquired at baseline using the Ocular Response Analyzer (ORA). Univariable and multivariable Cox regression models were used to investigate baseline factors associated with development of visual field loss over time. RESULTS: Fifty-four (19%) eyes developed repeatable visual field defects during follow-up. Measurements of CH at baseline were significantly lower in patients who developed glaucoma vs those who did not (9.5 ± 1.5 mm Hg vs 10.2 ± 2.0 mm Hg; P = .012). Each 1-mm Hg lower CH was associated with an increase of 21% in the risk of developing glaucoma during follow-up (95% confidence interval [CI]: 1.04-1.41; P = .013). In a multivariable model adjusting for age, intraocular pressure, central corneal thickness, PSD, and treatment, CH was still predictive of development of glaucoma (hazard ratio = 1.20; 95% CI: 1.01-1.42; P = .040). CONCLUSION: Baseline lower CH measurements were significantly associated with increased risk of developing glaucomatous visual field defects over time. The prospective longitudinal design of this study supports a role of CH as a risk factor for developing glaucoma.

Abundant and diverse fungal microbiota in the murine intestine.

Enteric microbiota play a variety of roles in intestinal health and disease. While bacteria in the intestine have been broadly characterized, little is known about the abundance or diversity of enteric fungi. This study utilized a culture-independent method termed oligonucleotide fingerprinting of rRNA genes (OFRG) to describe the compositions of fungal and bacterial rRNA genes from small and large intestines (tissue and luminal contents) of restricted-flora and specific-pathogen-free mice. OFRG analysis identified rRNA genes from all four major fungal phyla: Ascomycota, Basidiomycota, Chytridiomycota, and Zygomycota. The largest assemblages of fungal rRNA sequences were related to the genera Acremonium, Monilinia, Fusarium, Cryptococcus/Filobasidium, Scleroderma, Catenomyces, Spizellomyces, Neocallimastix, Powellomyces, Entophlyctis, Mortierella, and Smittium and the order Mucorales. The majority of bacterial rRNA gene clones were affiliated with the taxa Bacteroidetes, Firmicutes, Acinetobacter, and Lactobacillus. Sequence-selective PCR analyses also detected several of these bacterial and fungal rRNA genes in the mouse chow. Fluorescence in situ hybridization analysis with a fungal small-subunit rRNA probe revealed morphologically diverse microorganisms resident in the mucus biofilm adjacent to the cecal and proximal colonic epithelium. Hybridizing organisms comprised about 2% of the DAPI (4',6-diamidino-2-phenylindole, dihydrochloride)-positive organisms in the mucus biofilm, but their abundance in fecal material may be much lower. These data indicate that diverse fungal taxa are present in the intestinal microbial community. Their abundance suggests that they may play significant roles in enteric microbial functions.