Myopic maculopathy: Current status and proposal for a new classification and grading system (ATN)

Myopia is a highly frequent ocular disorder worldwide and pathologic myopia is the 4th most common cause of irreversible blindness in developed countries. Pathologic myopia is especially common in East Asian countries. Ocular alterations associated with pathologic myopia, especially those involving the macular area—defined as myopic maculopathy—are the leading causes of vision loss in patients with pathologic myopia. High myopia is defined as the presence of a highly negative refractive error (>−6 to −8 diopters) in the context of eye elongation (26–26.5 mm). Although the terms high myopia and pathologic myopia are often used interchangeably, they do not refer to the same eye disease. The two key factors driving the development of pathologic myopia are: 1) elongation of the axial length and 2) posterior staphyloma. The presence of posterior staphyloma, which is the most common finding in patients with pathologic myopia, is the key differentiating factor between high and pathologic myopia. The occurrence of staphyloma will, in most cases, eventually lead to other conditions such as atrophic, traction, or neovascular maculopathy. Posterior staphyloma is for instance, responsible for the differences between a myopic macular hole (MH)—with and without retinal detachment—and idiopathic MH. Posterior staphyloma typically induces retinal layer splitting, leading to foveoschisis in myopic MH, an important differentiating factor between myopic and emmetropic MH. Myopic maculopathy is a highly complex disease and current classification systems do not fully account for the numerous changes that occur in the macula of these patients. Therefore, a more comprehensive classification system is needed, for several important reasons. First, to more precisely define the disease stage to improve follow-up by enabling clinicians to more accurately monitor changes over time, which is essential given the progressive nature of this condition. Second, unification of the currently-available classification systems would establish standardized classification criteria that could be used to compare the findings from international multicentric studies. Finally, a more comprehensive classification system could help to improve our understanding of the genetic origins of this disease, which is clearly relevant given the interchangeable—but erroneous—use of the terms high and pathologic myopia in genetic researc

Genetics of obesity.

OBJECTIVE: The aim was to review and update advances in genetics of obesity. DESIGN: Analysis and interpretation of recent investigations about regulating the energy balance as well as about gene-nutrient interactions and current nutri-genomic research methods. BACKGROUND AND MAIN STATEMENTS: Obesity results from a long-term positive energy balance. However, its rising prevalence in developed and developing societies must reflect lifestyle changes, since genetic susceptibility remains stable over many generations. Like most complex diseases, obesity derives from a failure of adequate homoeostasis within the physiological system controlling body weight. The identification of genes that are involved in syndromic, monogenic and polygenic obesity has seriously improved our knowledge of body weight regulation. This disorder may arise from a deregulation at the genetic level (e.g. gene transcription or altered protein function) or environmental exposure (e.g. diet, physical activity, etc.). CONCLUSIONS: In practice, obesity involves the interaction between genetic and environmental factors

Effect of the intake of lean Red-Meat from beef-(Pirenaica Breed) versus lean White-Meat on body composition, fatty acids profile and cardiovascular risk indicators: a randomized cross-over study in healthy young adults

The main dietary guidelines recommended a restriction of total and saturated fat intake in the management of cardiovascular risk. These recommendations are overgeneralized, and all red meats should be limited and replaced by white meat. The aim is to assess the effect of the consumption of beef (from the Pirenaica breed) or chicken-based diets on body composition, fatty acid profile and cardiovascular (CV) risk indicators in healthy adults. A randomized cross-over study was carried out in three University accommodation halls. Participants consumed either the Pirenaica breed beef or chicken three times per week for 8-week periods with their usual diet. Body composition, clinical, biochemical and dietary variables were evaluated at baseline and at the end of each period. A validated diet questionnaire was used to assess nutrient intake and monitor compliance. Intervention and control group comparisons were done with the general linear regression model for repeated measures. Forty-seven healthy adults were included (51.6% males, mean age 19.9 ± 1.75 years). No significant differences were found in body composition, fatty acid profile or CV risk indicators from baseline in either diet group. Consumption of lean red meat (Pirenaica breed) or lean white meat (chicken) as part of the usual diet is associated with a similar response. Clinical Trial Registration: NCT 04832217 (accessed on 6 September 2022)

The Effect of Food Vouchers and an Educational Intervention on Promoting Healthy Eating in Vulnerable Families: A Pilot Study

Cost has been reported as the main barrier to healthy eating in vulnerable groups. We aimed to evaluate the effect of a nutrition education intervention on adherence to Mediterranean Diet and health when providing food vouchers. This pilot study has a randomized control trial design. We included 66 vulnerable users from the Red Cross of Zaragoza (Spain). Intervention and control group individuals received 120 euros/month of food vouchers over 3 months to be spent in supermarkets (60 euros/month if under 12 y) plus a 10-week nutrition education program for the intervention group. Family food purchases were assessed using electronically recorded supermarket-obtained transactions. During and at the end of the intervention the percentage of healthy food was higher in the intervention than in the control group. Once the nutrition education was over, differences between groups dissipated. In the intervention group, health parameters improved, particularly weight-status, lipids, and liver enzymes. Control participants gained weight, although lipid and liver enzymes improved. Blood pressure and HbA1c did not improve in either the intervention or the control group. In conclusion, providing unrestricted food vouchers to vulnerable groups to increase healthy food consumption appears to be insufficient and should be accompanied by medium-long term nutrition education

A beam-beam monitoring detector for the MPD experiment at NICA

The Multi-Purpose Detector (MPD) is to be installed at the Nuclotron Ion Collider fAcility (NICA) of the Joint Institute for Nuclear Research (JINR). Its main goal is to study the phase diagram of the strongly interacting matter produced in heavy-ion collisions. These studies, while providing insight into the physics of heavy-ion collisions, are relevant for improving our understanding of the evolution of the early Universe and the formation of neutron stars. In order to extend the MPD trigger capabilities, we propose to include a high granularity beam-beam monitoring detector (BE-BE) to provide a level-0 trigger signal with an expected time resolution of 30 ps. This new detector will improve the determination of the reaction plane by the MPD experiment, a key measurement for flow studies that provides physics insight into the early stages of the reaction. In this work, we use simulated Au+Au collisions at NICA energies to show the potential of such a detector to determine the event plane resolution, providing further redundancy to the detectors originally considered for this purpose namely, the Fast Forward Detector (FFD) and the Hadron Calorimeter (HCAL). We also show our results for the time resolution studies of two prototype cells carried out at the T10 beam line at the CERN PS complex.Comment: 16 pages, 12 figures. Updated to published version with added comments and correction

Associations between pedometer determined physical activity and adiposity in children and adolescents

Objective: The present review sought to examine the evidence on the associations between pedometer-determined physical activity and adiposity. Design: Of 304 potentially eligible articles, 36 were included. A search for observational studies was carried out using Cochrane Library (CENTRAL), the OVID (MEDLINE, Embase, and PsycINFO), EBSCOhost (Sportdiscus), and PEDro database from their commenced to July 2015. Of 304 potentially eligible articles, 36 were included. Results: Most studies (30/36; 83%) were cross sectional and all used proxies for adiposity, such as body mass index (BMI) or BMI z-score as the outcome measure. Few studies (2/36; 6%) focused on preschool children. There was consistent evidence of negative associations between walking and adiposity; significant negative associations were observed in 72% (26/36) of studies overall. Conclusions: The present review supports the hypothesis that higher levels of walking are protective against child and adolescent obesity. However, prospective longitudinal studies are warranted; there is a need for more research on younger children and for more “dose-response” evidence

Farmer Perceptions of Adopting Novel Legumes in Traditional Maize-Based Farming Systems in the Yucatan Peninsula

Intercropping constitutes the traditional farming system practice used in various forms for maize production in the Yucatan peninsula. Although practiced for centuries, problems persist with competition for water, nutrients and light between crop species in traditional farming systems. Furthermore, little is known about farmers’ perceptions regarding changes to traditional maize-legume intercropping systems and their interest in novel crop adoption to increase yields in the system while maintaining the practice. The objective of this study was to investigate the maize-based traditional cropping system by assessing the underlying motives and concepts of farmers to practice intercropping in the Yucatan Peninsula and to examine the association between farmers’ level of knowledge about legumes and decisions to adopt intercropping and related practices therein. Farmer surveys were conducted in nine different regions of the Yucatan Peninsula. We selected Xoy, Euan, Muna, Mama, Tahdziú (Yucatan), Becal, Hecelchacam, Dzitbalché and San Antonio Sahcabchén (Campeche) which are representative of agroecological small-scale farming systems. We used a mixed methods case study analysis involving key informant interviews in eight associations of farmers. A sample frame with 73 farmers was selected in total during February 2021 and April 2021. Basic information such as land use, labor inputs, agricultural production and farmer’s perceptions regarding their intercropping systems were collected. Our research shows that the primary motives for intercropping were due to the ability of intercropping to offer a more diversified range of food for human and animal consumption, as well as to take advantage of different harvest periods that this practice offers. The majority of respondents were likely to favor the idea of introducing new legume species in their maize-based cropping systems. Factors such as the type of cropping system (i.e., intercropping or monocropping), access to water and level of knowledge about legumes influenced their decision to adopt intercropping in their farming systems considerably. This paper contributes to the knowledge on the current state and farmers’ perceptions of intercropping systems in the Yucatan Peninsula

Gene discovery for facioscapulohumeral muscular dystrophy by machine learning techniques

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder that shows a preference for the facial, shoulder and upper arm muscles. FSHD affects about one in 20-400,000 people, and no effective therapeutic strategies are known to halt disease progression or reverse muscle weakness or atrophy. Many genes may be incorrectly regulated in affected muscle tissue, but the mechanisms responsible for the progressive muscle weakness remain largely unknown. Although machine learning (ML) has made significant inroads in biomedical disciplines such as cancer research, no reports have yet addressed FSHD analysis using ML techniques. This study explores a specific FSHD data set from a ML perspective. We report results showing a very promising small group of genes that clearly separates FSHD samples from healthy samples. In addition to numerical prediction figures, we show data visualizations and biological evidence illustrating the potential usefulness of these results.Peer ReviewedPostprint (published version

Effect of ABCB1 and ABCC3 Polymorphisms on Osteosarcoma Survival after Chemotherapy: A Pharmacogenetic Study

Standard treatment for osteosarcoma patients consists of a combination of cisplatin, adriamycin, and methotrexate before surgical resection of the primary tumour, followed by postoperative chemotherapy including vincristine and cyclophosphamide. Unfortunately, many patients still relapse or suffer adverse events. We examined whether common germline polymorphisms in chemotherapeutic transporter and metabolic pathway genes of the drugs used in standard osteosarcoma treatment may predict treatment response. METHODOLOGY/PRINCIPAL FINDINGS: In this study we screened 102 osteosarcoma patients for 346 Single Nucleotide Polymorphisms (SNPs) and 2 Copy Number Variants (CNVs) in 24 genes involved in the metabolism or transport of cisplatin, adriamycin, methotrexate, vincristine, and cyclophosphamide. We studied the association of the genotypes with tumour response and overall survival. We found that four SNPs in two ATP-binding cassette genes were significantly associated with overall survival: rs4148416 in ABCC3 (per-allele HR = 8.14, 95%CI = 2.73-20.2, p-value = 5.1x10(-)(5)), and three SNPs in ABCB1, rs4148737 (per-allele HR = 3.66, 95%CI = 1.85-6.11, p-value = 6.9x10(-)(5)), rs1128503 and rs10276036 (r(2) = 1, per-allele HR = 0.24, 95%CI = 0.11-0.47 p-value = 7.9x10(-)(5)). Associations with these SNPs remained statistically significant after correction for multiple testing (all corrected p-values [permutation test] </= 0.03). CONCLUSIONS: Our findings suggest that these polymorphisms may affect osteosarcoma treatment efficacy. If these associations are independently validated, these variants could be used as genetic predictors of clinical outcome in the treatment of osteosarcoma, helping in the design of individualized therapy