Emilio Abecia

Anatomic results and complications in a long-term follow-up of pneumatic retinopexy cases.

Background: The use of pneumatic retinopexy is controversial because 1) intraocular gas could increase the risk of proliferate vitreoretinopathy and 2) it has been reported to achieve low rates of success after a single procedure. Methods: A total of 219 consecutive cases of SF6 pneumatic retinopexy were reviewed retrospectively. The follow‐up period ranged from 2 to 5 years. Results: A total of 179 (81.73%) of 219 eyes were treated successfully with a single procedure. The success rate increased with reoperations to 98.89%. Preoperative factors related to primary failure or redetachment were aphakia or pseudophakia (P = 0.0058) and breaks localized on horizontal meridia (P = 0.0305). Cryopexy was significantly associated with failure (P = 0.0007). A total of 31.05% of eyes showed early complications. The most frequent incidence was delay in subretinal fluid reabsorption (36.76%), followed by new breaks (26.47%). Late complications were observed in 6.84% of the eyes (six eyes with macular pucker, three with new retinal detachments, three with cataracts, and three with new breaks without detachment). Conclusions: Failures of pneumatic retinopexy were related to lens status, localization of the break, and cryopexy. The occurrence of early and late complications was similar to that in other procedures.

Assessment of the ocular media absorption index

Purpose: To determine a practical method for quantifying in vivo lens absorption by human crystalline, obtaining an index of lens density in our population. Method: 62 normal subjects were evaluated in this study (ages ranging from 20 to 71 years). Testing procedure: Measurements of dark-adapted scotopic thresholds for 450 nm and 656 nm stimuli were obtained (Tubinger perimeter) in order to determine ocular media absorption. Van Norren and Voss procedure was used to calculate ocular media absorption transmission loss. Least-squares linear regressions were used to correlate lens density to age. Results: A gradual and approximately linear increase in average lens absorbance was found under 55 years of age. Elder subjects showed a higher increase in this absorbance with higher variability. A correction factor for age-related ocular media absorption was obtained from the calculated curve. The range was approximately 1 to 5 dB. Conclusion: Determination of the transmission characteristics of the preretinal media is essential for interpreting threshold sensitivity values. Increase in lens absorption has been shown to be selective for short wavelengths. Due to this fact, a correction factor for the age-related ocular media absorption should be applied to avoid misinterpretation of the Blue-on-Yellow perimetry absolute results. That factor may discriminate sensitivity losses due to changes in the lens from those due to retinal or neuronal dysfunction.

Distribution of types for six PCR-based loci; LDLR, GYPA, HBGG, D7S8, GC and HLA-DQA1 in central Pyrenees and Teruel (Spain).

The PCR-based DNA loci LDLR, GYPA, HBGG, D7S8, GC and HLA DQA1 are widely used in forensic casework analyses. Population data on the distribution of allele frequencies are desired to estimate the rarity of a DNA profile. We studied the allele distributions at these forensically important DNA markers in two Spanish populations (Central Pyrenees and Teruel). Results were in agreement with Hardy-Weinberg expectations. Furthermore, there was little evidence for departures from expectation of independence between loci within the two sample populations. Tests for homogeneity were carried out between the two Spanish populations and a U.S. Caucasian population.

Genetic variation at six STR loci (HUMTH01, HUMTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS, HUMVWFA31) in Aragon (North Spain)

The STR loci HUMTH01, HUMPTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS and HUMVWFA31 are widely used in forensic casework analyses and population data are necessary to estimate the frequency of a DNA profile. This paper presents the results of a survey aimed to investigate the allele frequency distribution of these loci in an important Spanish population (Aragon, North Spain). Statistical analysis to determine whether allele frequencies were in Hardy-Weinberg Equilibrium was carried out and also to obtain some parameters of medico-legal interest. There was no evidence of association between the alleles of the loci. The Aragonese sample does not differ substantially from other Caucasian populations.

Genetic markers in primary open-angle glaucoma

Purpose: To investigate possible associations between genetic markers and Primary Open-Angle Glaucoma (POAG). Methods: A number of genetic markers were typed in 84 unrelated patients with POAG and compared with a random sample of healthy individuals. The markers were Transferrin, Group Specific Component, G1m (1), G1m (2) and G3m (5) Allotypes, Adenylate Kinase, Adenosin Deaminase, Glyoxalase I and Acid Phosphatase and PCR-based markers HLA-DQA1 and D1S80. Results: No significant differences were found except the strong association between the group of POAG patients and Acid Phosphatase ACP*C allele (χ2 = 32.86; p < 0.0001). Conclusions: Since Acid Phosphatase gene is localized to chromosome 2p23, this result could be a first comprehensive step in the localization of POAG genes.

Population genetics of the STR loci HUMCSF1PO, HUMF13A01, HUMFES / FPS and D12S391 in Asturias (northern Spain)

In order to use genetic loci in forensic identity testing, some population data are needed. This paper presents a report of allele frequency data for the loci HUMCSF1PO, HUMF13A01, HUMFES/FPS and D12S391 in a population sample from Asturias (northern Spain). No deviation from the Hardy-Weinberg equilibrium was detected in any of the four markers investigated and there was no evidence of association between the alleles of these loci. Statistical analysis was also carried out to obtain some parameters of medico-legal interest and comparative studies were carried out with other populations studied to date for these loci. The Asturian sample does not differ substantially from other Caucasian and Spanish populations.

Frequencies of the five PCR-based genetic markers LDLR, GYPA, HBGG, D7S8 and GC in the population of Asturias (North Spain).

Allele and genotype frequencies of the loci LDLR, GYPA, HBGG, D7S8 and GC (PM loci) were investigated in a population sample of 215 unrelated individuals from Asturias (North Spain). Multiplex amplification and simulataneous typing of the five loci was carried out using the polymarker PCR amplification and typing kit. All loci met Hardy-Weinberg expectations. The Asturian sample does not differ significantly from other Caucasians, but significant differences were observed between this population and SW Hispanic, Afro-american and Korean populations.

Haplotype distribution of nine Y-chromosome STR-loci in two northern Spanish populations (Asturias and Aragon).

Whole blood samples were collected from healthy unrelated donors born and living in Aragon (n = 136) and Asturias (n = 120). DNA was isolated using standard phenol-cloroform extraction method. Amplification was carried out according to Nievas (1) in a PE 2400 thermocycler (PE Biosystems). Each locus was amplified individually, except DYS389I/II and DYS385 (two loci each with the same set of primers). The recommendations of the International Society for Forensic Genetics were followed for typing and interpretation (2). In addition, we successfully took part in the quality control exercise for Y-STRs organized by Dr. Lutz Roewer, Institute of Legal Medicine, Humboldt University, Berlin, Germany (3). Y-STR haplotype variability was evaluated by means of Analysis of Molecular Variance (AMOVA) (4,5).

PM and D1S80 loci gene frequencies in the Zaragoza population of northern Spain.

LDLR, GYPA, HBGG, D7S8, GC (PM loci) and D1S80 are widely used in forensic casework analyses and population data are required to estimate the frequency of a DNA profile. This paper presents the results of a survey aimed at investigating the allele and genotype frequency distribution of these loci in an important Spanish population (Zaragoza, North Spain). Statistical analysis to determine whether allele frequencies were in Hardy-Weinberg equilibrium was carried out as well as to obtain some parameters of medicolegal interest. There was no evidence of association between the alleles of the loci. The Zaragoza sample does not differ substantially from other Caucasian populations.

Changes in Frequency-Doubling Perimetry in Patients with Type I Diabetes prior to Retinopathy

Purpose. To evaluate the ability of frequency-doubling technology (FDT) perimetry in detecting visual field defects in young adults with type I diabetes prior to retinopathy or with minor retinovascular changes. Methods. This comparative cross-sectional study included 30 healthy subjects and 73 age-matched patients with type I diabetes mellitus. All subjects underwent a full ocular examination including an FDT with the threshold C-20-5 strategy. Only one eye per subject was randomly included in the statistical analysis. FDT results and time to perform the test were compared between the groups. Results. The mean age was 27.1 years in the control group and 26.6 years in the diabetic group (P = 0.875). The mean period from the onset of diabetes was 12.6 ± 6.7 years, while minimal retinovascular changes were observed in 18 eyes. Mean deviation of FDT did not differ between the groups. Although global indices of FDT were within normal limits, pattern standard deviation of FDT was higher in the diabetic group (P = 0.035). The area under the receiver operating characteristic curve was 0.647 for pattern standard deviation of FDT (standard error = 0.052; P = 0.017). Conclusion. FDT can detect retinal dysfunctions in diabetic patients prior to the onset of significant vascular complications.