Exploring Advanced Oxygen Reduction Reaction Electrocatalysts: The Potential of Metal-Free and Non-Pyrolyzed Covalent Organic Frameworks.

Oxygen reduction reaction (ORR) electrocatalysis is an area of increasing interest for the in-situ production of H2O2 or the development of energy-related devices such as hydrogen fuel cells. Although pyrolyzed catalysts still offer the best performances to date with reference to the organic-based catalysts, metal-free and non-pyrolyzed covalent organic frameworks (COFs) stands out as promising alternatives candidates due to their favourable characteristics such as crystallinity, porosity, and organic composition, allowing the study of structural-property relationships. Herein, we present the design principles and recent advances in COFs-based ORR electrocatalysts, demonstrating how composition influences the activity and electronic pathway of the oxygen reduction process.

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials.

V-Shaped Tröger Oligothiophenes Boost Triplet Formation by CT Mediation and Symmetry Breaking.

A new family of molecules obtained by coupling Tröger's base unit with dicyanovinylene-terminated oligothiophenes of different lengths has been synthesized and characterized by steady-state stationary and transient time-resolved spectroscopies. Quantum chemical calculations allow us to interpret and recognize the properties of the stationary excited states as well as the time-dependent mechanisms of singlet-to-triplet coupling. The presence of the diazocine unit in Tröger's base derivatives is key to efficiently producing singlet-to-triplet intersystem crossing mediated by the role of the nitrogen atoms and of the almost orthogonal disposition of the two thiophene arms. Spin-orbit coupling-mediated interstate intersystem crossing (ISC) is activated by a symmetry-breaking process in the first singlet excited state with partial charge transfer character. This mechanism is a characteristic of these molecular triads since the independent dicyanovinylene-oligothiophene branches do not display appreciable ISC. These results show how Tröger's base coupling of organic chromophores can be used to improve the ISC efficiency and tune their photophysics.

Short- and Long-Term Effects of Split-Suckling in Pigs According to Birth Weight.

Forty-eight litters were used, with a total number of 645 piglets involved in the study. The split-suckling technique was applied to half of the litters at the end of farrowing by removing the heaviest piglets over three periods of 1 h. The piglets were individually weighed at 0, 1 d, and at weaning. Piglet losses were recorded daily. Traceability was maintained until the carcass splitting and meat analysis took place. Carcasses were eviscerated and weighed individually. Total mortality at weaning was affected by body weight, where the low-body-weight piglets showed a mortality rate almost four times higher than that of the normal-weight piglets. Mortality was highest in the first days of life, especially in the low-body-weight piglets. At weaning, split-suckling treatment caused a slight increase in mortality compared to the control group piglets (25% vs. 17.1%). Split-suckling had a positive effect on weight gain during the first 24 h of life (p = 0.014), and there was an interaction between treatment and parity (p = 0.007), with split-suckling being more effective in the primiparous sows compared to the multiparous sows. The piglets from litters receiving the split-suckling treatment had a lower average daily gain during the lactation period (p < 0.001) than the piglets from the control group. Weight gain during the first 24 h of life of the piglets subjected to split-suckling was higher than those of the control group. A lower IgG and α-tocopherol in plasma in the heavier piglets subjected to split-suckling treatment was observed in comparison to their respective control. The piglets from litters receiving the treatment showed a lower average daily gain during the lactation period (p < 0.001) than the piglets from the control group. No difference in slaughter weight was observed according to treatment. The pigs which received split-suckling treatment showed lower subcutaneous fat thickness (p < 0.0013) and higher lean meat yield (p < 0.0027), this effect being more marked in pigs from primiparous sows. Intramuscular fat concentration was higher in the Longissimus Dorsi muscle of the low-body-weight piglets. In the pigs that received split-suckling treatment, a higher concentration of C18:3n-3 (p = 0.036) and a tendency towards a higher concentration of C18:2n-6 (p = 0.107) and unsaturation index (p = 0.113) was observed in intramuscular fatty acids at slaughter, together with a lower concentration of C16:0 (p = 0.053) and SFA (p = 0.064). In conclusion, long-term response to split-suckling, particularly in low-birth-weight piglets, suggests an alteration in adiposity and metabolic regulation in these piglets that receive high levels of colostrum.

Scalable Synthesis and Electrocatalytic Performance of Highly Fluorinated Covalent Organic Frameworks for Oxygen Reduction.

In this study, we present a novel approach for the synthesis of covalent organic frameworks (COFs) that overcomes the common limitations of non-scalable solvothermal procedures. Our method allows for the room-temperature and scalable synthesis of a highly fluorinated DFTAPB-TFTA-COF, which exhibits intrinsic hydrophobicity. We used DFT-based calculations to elucidate the role of the fluorine atoms in enhancing the crystallinity of the material through corrugation effects, resulting in maximized interlayer interactions, as disclosed both from PXRD structural resolution and theoretical simulations. We further investigated the electrocatalytic properties of this material towards the oxygen reduction reaction (ORR). Our results show that the fluorinated COF produces hydrogen peroxide selectively with low overpotential (0.062 V) and high turnover frequency (0.0757 s-1 ) without the addition of any conductive additives. These values are among the best reported for non-pyrolyzed and metal-free electrocatalysts. Finally, we employed DFT-based calculations to analyse the reaction mechanism, highlighting the crucial role of the fluorine atom in the active site assembly. Our findings shed light on the potential of fluorinated COFs as promising electrocatalysts for the ORR, as well as their potential applications in other fields.

Genome-wide association study for primal cut lean traits in Canadian beef cattle.

This study identified genomic variants and underlying candidate genes related to the whole carcass and individual primal cut lean content in Canadian commercial crossbred beef cattle. Genotyping information of 1035 crossbred beef cattle were available alongside estimated and actual carcass lean meat yield and individual primal cut lean content in all carcasses. Significant fixed effects and covariates were identified and included in the animal model. Genome-wide association analysis were implemented using the weighted single-step genomic best linear unbiased prediction (WssGBLUP). A number of candidate genes identified linked to lean tissue production were unrelated to estimated lean meat yield and were specific to the actual lean traits. Among these, 41 genes were common for actual lean traits, on specific regions of BTA4, BTA13 and BTA25 indicating potential involvement in lean mass synthesis. Therefore, the results suggested the inclusion of primal cut lean traits as a selection objective in breeding programs with consideration of further functional studies of the identified genes could help in optimizing lean yield for maximal carcass value.

Freeze-Dried Cooked Chickpeas: Considering a Suitable Alternative to Prepare Tasty Reconstituted Dishes.

The current trend in food consumption is toward convenience, i.e., fast food. The present work aims to study the potential of incorporating freeze-dried cooked chickpeas into a complex and traditional dish in Spanish gastronomy, such as Cocido, which has this legume as the main ingredient. Cocido is a two-course meal: a thin-noodle soup and a mix of chickpeas, several vegetables, and meat portions. The textural properties, sensory qualities, and rehydration kinetics of chickpeas of three Spanish varieties were investigated to select the most suitable cooking conditions to obtain freeze-dried chickpeas of easy rehydration whilst maintaining an adequate sensory quality for the preparation of the traditional dish. The sensory quality of various vegetables and meat portions, cooked under different conditions, was evaluated after freeze-drying and rehydration. It was possible to reproduce the sensory quality of the traditional dish after rehydration with water, heating to boiling in a microwave oven for 5 min, and resting for 10 min. Therefore, it is possible to commercialize complex dishes based on pulses and other cooked and freeze-dried ingredients as reconstituted meals with a wide nutrient profile. Nevertheless, additional research is required on the shelf life, together with other economic and marketing issues such as design of a proper packaging, that would allow consumption as a two-course meal.

Evaluation of functional warm ischemia time during controlled donation after circulatory determination of death using normothermic regional perfusion (ECMO-TT): A prospective multicenter cohort study.

BACKGROUND: Controlled donation after circulatory determination of death (cDCD) seems an effective way to mitigate the critical shortage of available organs for transplant worldwide. As a recently developed procedure for organ retrieval, some questions remain unsolved such as the uncertainty regarding the effect of functional warm ischemia time (FWIT) on organs´ viability. METHODS: We developed a multicenter prospective cohort study collecting all data from evaluated organs during cDCD from 2017 to 2020. All the procedures related to cDCD were performed with normothermic regional perfusion. The analysis included organ retrieval as endpoint and FWIT as exposure of interest. The effect of FWIT on the likelihood for organ retrieval was evaluated with Relative distribution analysis. RESULTS: A total amount of 507 organs´ related information was analyzed from 95 organ donors. Median donor age was 62 years, and 63% of donors were male. Stroke was the most common diagnosis before withdrawal of life-sustaining therapy (61%), followed by anoxic encephalopathy (21%). This analysis showed that length of FWIT was inversely associated with organ retrieval rates for liver, kidneys, and pancreas. No statistically significant association was found for lungs. CONCLUSIONS: Results showed an inverse association between functional warm ischemia time (FWIT) and retrieval rate. We also have postulated optimal FWIT's thresholds for organ retrieval. FWIT for liver retrieval remained between 6 and less than 11 min and in case of kidneys and pancreas, the optimal FWIT for retrieval was 6 to 12 min. These results could be valuable to improve organ utilization and for future analysis.

Estimation of genetic parameters for primal tissue component traits in commercial crossbred beef cattle.

Knowledge of genetic parameters is required to select for optimal yield of primal cuts that may be used as the selection criteria for designing future breeding programs. This study aimed to estimate the heritability, as well as genetic and phenotypic correlations of primal cut lean and fat tissue components, and carcass traits in Canadian crossbred beef cattle. All tissue component traits presented a medium to high heritability (lean 0.41 to 0.61; fat 0.46 to 0.62; bone 0.22 to 0.48), which indicates a probable increase in their response to genetic selection. In addition, high genetic correlations were found among the primal cut lean trait group (0.63 to 0.94) and fat trait group (0.63 to 0.94), as well as strong negative correlations between lean and fat component traits (-0.63 to -1). Therefore, results suggested inclusion of primal cut tissue composition traits as a selection objective in breeding programs with consideration of correlations among the traits could help in optimizing lean yield for the highest carcass value.

A randomized pilot trial assessing the reduction of gout episodes in hyperuricemic patients by oral administration of Ligilactobacillus salivarius CECT 30632, a strain with the ability to degrade purines.

Introduction: Hyperuricemia and gout are receiving an increasing scientific and medical attention because of their relatively high prevalence and their association with relevant co-morbidities. Recently, it has been suggested that gout patients have an altered gut microbiota. The first objective of this study was to investigate the potential of some Ligilactobacillus salivarius strains to metabolize purine-related metabolites. The second objective was to evaluate the effect of administering a selected potential probiotic strain in individuals with a history of hyperuricemia. Methods: Inosine, guanosine, hypoxanthine, guanine, xanthine, and uric acid were identified and quantified by high-performance liquid chromatography analysis. The uptake and biotransformation of these compounds by a selection of L. salivarius strains were assessed using bacterial whole cells and cell-free extracts, respectively. The efficacy of L. salivarius CECT 30632 to prevent gout was assessed in a pilot randomized controlled clinical trial involving 30 patients with hyperuricemia and a history of recurrent gout episodes. Half of the patients consumed L. salivarius CECT 30632 (9 log10 CFU/day; probiotic group; n = 15) for 6 months while the remaining patients consumed allopurinol (100-300 mg/daily; control group; n = 15) for the same period. The clinical evolution and medical treatment received by the participants were followed, as well as the changes in several blood biochemical parameters. Results: L. salivarius CECT 30632 was the most efficient strain for inosine (100%), guanosine (100%) and uric acid (50%) conversion and, therefore, it was selected for the pilot clinical trial. In comparison with the control group, administration of L. salivarius CECT 30632 resulted in a significant reduction in the number of gout episodes and in the use of gout-related drugs as well as an improvement in some blood parameters related to oxidative stress, liver damage or metabolic syndrome. Conclusion: Regular administration of L. salivarius CECT 30632 reduced serum urate levels, the number of gout episodes and the pharmacological therapy required to control both hyperuricemia and gout episodes in individuals with a history of hyperuricemia and suffering from repeated episodes of gout.

Respuesta biológica en las pacientes con cáncer de mama tratadas con radioterapia intraoperatoria / Biological response in breast cancer patients using intraoperative radiotherapy

Introducción: el tratamiento conservador de la mama junto con la radioterapia es de elección en las pacientes con cáncer de mama precoz. Gracias a un mayor conocimiento de la radiobiología tumoral, la tendencia actual consiste en utilizar técnicas de irradiación parcial acelerada, entre las que destaca la radioterapia intraoperatoria (RIO). Métodos: estudio prospectivo multicéntrico dividido en 2 grupos comparativos con casos consecutivos de las pacientes a que han recibido una cirugía conservadora por cáncer de mama asociada o no a RIO. Se valora la relación de esta terapia con los valores de las proteínas involucradas en la respuesta biológica (IL6, IL8, CXCL10, IL1β y TNF- α) en muestras de suero preoperatorio y a las 24 h desde la cirugía, y de drenaje quirúrgico a las 6 y 24 h desde la cirugía. Resultados: se ha objetivado en las pacientes tratadas con RIO una disminución significativa de IL6 e IL8, así como un aumento de CXCL10 favorable para la lucha contra la progresión del tumor (p valor < 0,05). Las alteraciones del sistema inmunológico se manifiestan tanto en suero como en débito del drenaje quirúrgico a las 6 y 24 h desde la cirugía. Conclusiones: la RIO modifica la respuesta biológica en las pacientes con cáncer de mama. A pesar de que se deben desarrollar más líneas de investigación, la comprensión de los mecanismos de desarrollo del tumor, abre una nueva etapa en el desarrollo de tratamientos perioperatorios dirigidos a dianas concretas que compensen las consecuencias dañinas de la cirugía. (AU)

Introduction: Breast conserving surgery with radiotherapy is the treatment of choice in patients with early breast cancer. Due to a better understanding of tumour radiobiology, the current trend is to use accelerated partial irradiation techniques, among which intraoperative radiotherapy (RIO) stands out. Methods: Prospective multicentre study divided into two comparative groups with consecutive cases of patients who have undergone conservative surgery for breast cancer associated or not with RIO. The relation of this therapy with the values of proteins involved in the biological response (IL6, IL8, CXCL10, IL1β y TNF- α) is assessed in serum samples preoperative and 24 hours after surgery, and surgical drainage samples at 6 and 24 hours after surgery. Results: A significant decrease in IL6 and IL8, as well as an increase in CXCL10 favourable for the fight against tumour progression (p-value < 0.05) was observed in patients treated with RIO. Immune system alterations are manifested in both serum and surgical drainage debit at 6 and 24 hours after surgery. Conclusions: RIO modifies the biological response in breast cancer patients. Although more lines of research need to be developed, the understanding of the mechanisms of tumour development opens a new stage in the development of perioperative treatments directed at specific targets that compensate for the harmful consequences of surgery. (AU)

Prediction of primal and retail cut weights, tissue composition and yields of youthful cattle carcasses using computer vision systems; whole carcass camera and/or ribeye camera.

The application of two computer vision systems (CVS) was evaluated to predict primal and retail cut composition in youthful beef carcasses. Left carcass sides from a total of 634 animals were broken down into primal cuts, scanned using dual-energy x-ray absorptiometry for the prediction of tissue composition and fabricated into retail cuts. Cold carcass camera (CCC) images led to higher R2 values than hot carcass camera (HCC) images. The CVS coefficients of prediction for the primal cut weights ranged from 0.61 to 0.97. For the primal cut tissue composition predictions, R2 values ranged from 0.09 for Brisket HCC bone prediction to 0.82 for Chuck CCC fat prediction. Retail cut weight estimations had similar R2 values, ranging from 0.10 for IMPS 112 (Ribeye roll-denuded ribeye) to 0.99 for IMPS 113C (semi-boneless chuck) both using CCC. The results suggest the feasibility of CVS technologies to predict beef primal and retail cuts weights together with tissue composition, and yield percentages.

Time to -30°C as a predictor of acute success during cryoablation in patients with atrial fibrillation.

BACKGROUND: Freezing rate of second-generation cryoballoon (CB) is a biophysical parameter that could assist pulmonary vein isolation. The aim of this study is to assess freezing rate (time to reach -30°C ([TT-30C]) as an early predictor of acute pulmonary vein isolation using the CB. METHODS: Biophysical data from CB freeze applications within a multicenter, nation-wide CB ablation registry were gathered. Successful application (SA), was defined as achieving durable intraprocedural vein isolation. And SA with time to isolation under 60 s (SA-TTI<60) as achieving durable vein isolation in under 60 s. Logistic regressions were performed and predictive models were built for the data set. RESULTS: 12,488 CB applications from 1,733 atrial fibrillation (AF) ablation procedures were included within 27 centers from a Spanish CB AF ablation registry. SA was achieved in 6,349 of 9,178 (69.2%) total freeze applications, and SA-TTI<60 was obtained in 2,673 of 4,784 (55.9%) freezes where electrogram monitoring was present. TT-30C was shorter in the SA group (33.4 ± 9.2 vs 39.3 ± 12.1 s; p < 0.001) and SA-TTI<60 group (31.8 ± 7.6 vs. 38.5 ± 11.5 s; p < 0.001). Also, a 10 s increase in TT-30C was associated with a 41% reduction in the odds for an SA (odds ratio [OR] 0.59; 95% confidence interval [CI] 0.56-0.63) and a 57% reduction in the odds for achieving SA-TTI<60 (OR 0.43; 95% CI 0.39-0.49), when corrected for electrogram visualization, vein position, and application order. CONCLUSIONS: Time to reach -30°C is an early predictor of the quality of a CB application and can be used to guide the ablation procedure even in the absence of electrogram monitoring.

Subspace-constrained deconvolution of auditory evoked potentials.

Auditory evoked potentials can be estimated by synchronous averaging when the responses to the individual stimuli are not overlapped. However, when the response duration exceeds the inter-stimulus interval, a deconvolution procedure is necessary to obtain the transient response. The iterative randomized stimulation and averaging and the equivalent randomized stimulation with least squares deconvolution have been proven to be flexible and efficient methods for deconvolving the evoked potentials, with minimum restrictions in the design of stimulation sequences. Recently, a latency-dependent filtering and down-sampling (LDFDS) methodology was proposed for optimal filtering and dimensionality reduction, which is particularly useful when the evoked potentials involve the complete auditory pathway response (i.e., from the cochlea to the auditory cortex). In this case, the number of samples required to accurately represent the evoked potentials can be reduced from several thousand (with conventional sampling) to around 120. In this article, we propose to perform the deconvolution in the reduced representation space defined by LDFDS and present the mathematical foundation of the subspace-constrained deconvolution. Under the assumption that the evoked response is appropriately represented in the reduced representation space, the proposed deconvolution provides an optimal least squares estimation of the evoked response. Additionally, the dimensionality reduction provides a substantial reduction of the computational cost associated with the deconvolution. matlab/Octave code implementing the proposed procedures is included as supplementary material.

Electrochemical (Bio)Sensors Based on Covalent Organic Frameworks (COFs).

Covalent organic frameworks (COFs) are defined as crystalline organic polymers with programmable topological architectures using properly predesigned building blocks precursors. Since the development of the first COF in 2005, many works are emerging using this kind of material for different applications, such as the development of electrochemical sensors and biosensors. COF shows superb characteristics, such as tuneable pore size and structure, permanent porosity, high surface area, thermal stability, and low density. Apart from these special properties, COF's electrochemical behaviour can be modulated using electroactive building blocks. Furthermore, the great variety of functional groups that can be inserted in their structures makes them interesting materials to be conjugated with biological recognition elements, such as antibodies, enzymes, DNA probe, aptamer, etc. Moreover, the possibility of linking them with other special nanomaterials opens a wide range of possibilities to develop new electrochemical sensors and biosensors.

An international consortium in epilepsy surgery education: Clinical case-based discussions between Latin-American and Canadian Epilepsy Centers.

An international consortium with a focus on Epilepsy Surgery Education was established with members from different centers in Latin America and Canada. All members of the consortium and attendees from different centers in Latin America and Canada have been meeting to discuss epilepsy surgery cases in a virtual manner. We surveyed all to assess the value of the meetings. The results and description of these meetings are being presented.

Influence of Production Factors on Beef Primal Tissue Composition.

This study used 1076 crossbred steers to evaluate the effects of calf-fed and yearling-fed beef production systems, implant strategies (with and without implants), and their interactions on the primal tissue composition (lean and fat components) of individual primal cuts using complete carcass dissection data. The results indicate that production system × implant interactions affected loin and rib primal weight percentages as well as marbling (p < 0.05) but did not affect the dissectible lean and fat contents of the individual primal cut (p > 0.05). Implants increased lean and decreased fat tissue contents of primal cut; however, the production system only affected lean content in the loin (p < 0.05) and fat content in the loin, round, and rib (p < 0.05). Redundancy analysis revealed a strong association between Angus breed percentage and marbling, as well as between Simmental breed percentage and multiple primal lean traits. Response surface regression models explained less variability in the tissue composition traits in calf-fed compared with yearling-fed animals, suggesting the need for further exploration using genomic studies.

Free-Range Feeding Alters Fatty Acid Composition at the sn-2 Position of Triglycerides and Subcutaneous Fat Physicochemical Properties in Heavy Pigs.

The nutritional value of fat consumption depends on both the fatty acid composition and the positional distribution of fatty acids within the triglyceride molecule. This research studies the effect of feeding with three different diets (4% lard-enriched; 11.5% high-oleic sunflower-enriched; and extensive feeding mainly with acorns) on the composition of fatty acids in the sn-2 position (and sn-1,3) of triglycerides and the textural properties of subcutaneous fat in heavy Iberian pigs (n = 210 castrated males). A moderate dietary enrichment with oleic acid in mixed diets did not alter the regulation of the sn-2 position of triglyceride (69.9% and 13.9% of palmitic and oleic acids, respectively), but the extremely high intake of oleic acid in pigs fed mainly on acorns changed the proportions of palmitic and oleic acids at the sn-2 position in the subcutaneous fat of pigs (55.0% and 27.2%, respectively). Hardness, adhesiveness, cohesiveness, gumminess, and chewiness showed the least values in EXT pigs, and the greatest values in LARD-fed barrows. SUN cohesiveness and gumminess did not differ from those fed LARD. In addition, Iberian pigs raised in free-range conditions had a more favorable nutritional lipid profile for human health compared to pigs fed conventional diets.

Neuro-Ophthalmological Findings in Friedreich's Ataxia.

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000-50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13-q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system's vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers.

Association between the clinical and demographic characteristics of patients undergoing cataract surgery and their prevalence of conjunctival bacteria.

PURPOSE: To identify characteristics of patients undergoing cataract surgery associated with pathogenic and antibiotic-resistant conjunctival bacteria. SETTING: Spanish tertiary hospital. DESIGN: Retrospective cross-sectional study. METHODS: Records of consecutive patients undergoing cataract surgery between July 2005 and September 2014, contained data on patient characteristics and conjunctival bacteria systematically identified with preoperative tests and anesthetic evaluation. A multivariate logistic regression associated 12 bacterial groups with every category of 17 characteristics. Odds ratio (OR), 95% CIs expressed colonization risk. RESULTS: In 14883 patients, categories associated with pathogenic bacteria were age older than 79 years with nonfermentative gram-negative bacilli (NFGNB) (OR 1.74, 1.12-2.71), enterococci (OR 1.90, 1.36-2.65), Enterobacteriaceae (OR 2.17, 1.65-2.87), and Staphylococcus aureus (OR 1.37, 1.16-1.62); obesity with S aureus (OR 1.52, 1.30-1.78), enterococci (OR 1.99, 1.47-2.68), and Enterobacteriaceae (OR 2.17, 1.70-2.77); dacryocystorhinostomy history with S aureus (OR 1.90, 1.48-2.44), Haemophilus spp. (OR 2.06, 1.37-3.11), Streptococcus pneumoniae (OR 3.14, 2.14-4.62), NFGNB (OR 2.23, 1.28-3.88), and enterococci (OR 1.80, 1.16-1.81); diabetes with S aureus (OR 1.27, 1.13-1.44), enterococci (OR 1.49, 1.19-1.87), and Enterobacteriaceae (OR 1.27, 1.04-1.54); smoking habit with Enterobacteriaceae (OR 2.11, 1.56-2.86); autumn with NFGNB (OR 2.0, 1.35-3.0); hot weather with S aureus (OR 1.23, 1.03-1.47); and lung, renal, and some heart insufficiencies with S aureus. Other staphylococci, highly antibiotic-resistant, were associated with old age, obesity, and hot weather. CONCLUSIONS: Old age, obesity, diabetes, dacryocystorhinostomy history, smoking habit, and autumn and summer seasons increased the prevalence of enterococci, staphylococci, Enterobacteriaceae, and/or NFGNB. Obesity and humid-warm weather are key for choosing a cataract surgery prophylaxis.