Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies

Genotype-phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM). Initial screening of ABCA4 variants showed a correlation between the type of mutation and the severity of the disease. In the present study we have undertaken mutational and haplotype analysis of ABCA4 in three mixed pedigrees segregating different retinal dystrophies. In family I, we have shown cosegregation of different ABCA4 alleles with CRD (homozygosity for L1940P) and three subtypes of STGD/FFM. The first, a mild form, consisting on fundus flavimaculatus-like distribution of flecks, but good visual acuity and absence of dark choroid, was found to cosegregate with alleles R1097C and F553L; the second, a conventional Stargardt phenotype was associated to alleles L1940P/R1097C and the third, displaying severely reduced visual acuity and dark choroid (named FFM), was associated to L1940P/F553L. In family II, segregating STGD and RP phenotypes, while the involvement of ABCA4 in STGD seems clear this is not the case for RP. Finally, in family III, also segregating STGD and RP, ABCA4 fails to explain either phenotype. Our data highlight the wide allelic heterogeneity involving this gene and support the genetic variability (beyond ABCA4) of mixed STGD/RP pedigrees.     

Hemi-field pattern visual evoked potentials: A comparison of display and analysis techniques

Summary Three methods for analyzing the spatial organization of visual evoked potentials were compared. Pattern reversal visual evoked potentials were obtained from a single subject under three viewing conditions: stimulation of the left, right, and both visual fields. The scalp distribution of the VEP to 1 deg checks was displayed using three recording and analysis techniques: a conventional horizontal occipital array of electrodes, topographic mapping, and 3-dimensional evoked potentials. All three techniques revealed "paradoxical" lateralization of P100. The relative merits of each technique are discussed.We are grateful to Susan Hoffmann-Nader and Rebecca Clark-Bash for data collection. This research was supported in part by the Brain Research Foundation of the University of Chicago.     

Lateral actions at the inner plexiform layer of the carp retina: effects of turning windmill pattern stimulus

Lateral action from amacrine to ganglion cells was studied in the isolated carp retina by using a truncated windmill pattern (TWP). About 25% of ganglion cells of both "on" and "off" center types were suppressed or enhanced in firing activity in response to TWP turning. The suppressed cells were more sensitive to slow turning velocities of TWP than the enhanced cells. In the "on-off" type amacrine cells, a steady depolarizing or hyperpolarizing component (less than several mV) was maintained by stationary TWP, while the cells were exclusively depolarized by turning TWP at a wide range of velocities. These results suggest that individual responses of ganglion cells induced by both stationary and turning TWP are depending on a balance between two factors: the polarizing direction of steady components of the "on-off" amacrine cells and the polarizing direction of ganglion cells synaptically produced by the amacrine cells.     

Pattern electroretinogram plus visual evoked potential: A decisive test in patients suspected of malingering

Along the processing chain in the visual pathway the pattern electroretinogram (PERG) is a better indicator of the peripheral function than the visual evoked potential (VEP). Therefore the PERG and the VEP will be impaired equally by disturbances before the ganglion cell layer (e.g., blurred image or retinal disease) and differently by further centrally located diseases (e.g., tumor compression of the optic nerve). Thus in patients complaining of reduced visual acuity who show disturbed VEP but a normal PERG, malingering can be definitely ruled out. Representative combinations of PERG and VEP findings are described.     

Suppression of spontaneous breathing during high-frequency jet ventilation

Conditions which suppress spontaneous breathing activity during high-frequency jet ventilation (HFJV) were analysed in Yorkshire piglets under pentobarbital anesthesia. The highest P_aCO₂ at which the animals did not breathe against the ventilator (apnea point) was established during different patterns of ventilation, either by changing the minute volume or by adding CO₂ to the inspiratory gas. Arterial oxygen tension was maintained throughout the study above 80 mm Hg. An elevation of ventilatory rate increased the apnea point, suggesting a progressive suppression of spontaneous breathing. This suppression did not depend on the amount of lung stretch during insufflation, because at higher rates lower tidal volumes were used. Suppression also appeared to be independent of insufflatory flow, i.e. the velocity of lung stretch. At higher frequencies end-expiratory airway pressure (P_EE) increased and there appeared to be a positive relationship between the apnea point and P_EE. In a separate series this positive relationship between the apnea point and P_EE was confirmed. A hysteresis effect in this relationship, however, suggests that other than jet frequency, lung volume rather than positive end-expiratory pressure (PEEP) is a major determinant of suppression of spontaneous breathing activity during HFJV.     

Identification of Dish-Based Dietary Patterns for Breakfast,Lunch, and Dinner and Their Diet Quality in Japanese Adults

We identified dish-based dietary patterns for breakfast, lunch, and dinner and assessed the diet quality of each pattern. Dietary data were obtained from 392 Japanese adults aged 20–69 years in 2013, using a 4 d dietary record. K-means cluster analysis was conducted based on the amount of each dish group, separately for breakfasts (n = 1462), lunches (n = 1504), and dinners (n = 1500). The diet quality of each dietary pattern was assessed using the Healthy Eating Index 2015 (HEI-2015) and Nutrient-Rich Food Index 9.3 (NRF9.3). The extracted dietary patterns were as follows: ‘bread-based’ and ‘rice-based’ for breakfast; ‘bread’, ‘rice-based’, ‘ramen’, ‘udon/soba’, and ‘sushi/rice bowl dishes’ for lunch; and ‘miscellaneous’, ‘meat dish and beer’, and ‘hot pot dishes’ for dinner. For breakfast, the HEI-2015 and NRF9.3 total scores were higher in the ‘rice-based’ pattern than the ‘bread-based’ pattern. For lunch, the HEI-2015 and NRF9.3 total scores were relatively high in the ‘rice-based’ pattern and low in the ‘ramen’ pattern. For dinner, the HEI-2015 total score was the highest in the ‘meat dish and beer’ pattern, and the NRF9.3 total score was higher in the ‘hot pot dishes’ than the ‘miscellaneous’ pattern. These results suggested that breakfast, lunch, and dinner have distinctive dietary patterns with different diet qualities.     

Adherence to Mediterranean Diet and Selected Lifestyle Elements among Young Women with Type 1 Diabetes Mellitus from Northeast Poland: A Case-Control COVID-19 Survey

An appropriate balanced diet and dietary patterns are important at every stage of life, but in the case of young patients with type 1 diabetes mellitus (T1DM), it is especially crucial during the COVID-19 pandemic. The aim of the study was to assess health and nutritional behaviors, mainly adherence to the Mediterranean diet (MD), during the second wave of the COVID-19 pandemic in Poland among women with T1DM, and to compare them with a healthy population. This survey (based on a questionnaire) was conducted in December 2020 and included 219 young women, healthy (n = 106) and with T1DM (n = 113), from northeast Poland. Over 30% of the study group admitted that they did not engage in any physical activity. A large proportion declared that their screen time was 5–7 h a day (48% in control and 40% in T1DM group). High intakes of sweet-beverages, sweets and red meat, but also low intakes of olive oil, fish and nuts were observed. The vast majority of participants (60% vs. 71%) were moderately adherent to the Mediterranean Diet Adherence Screener (MEDAS). The study demonstrated that despite the similarity between the behaviors of healthy people and those with T1DM, negative health and nutritional practices, such as low physical activity, long screen time, medium and high levels of stress and inappropriate eating habits were observed.     

Impact of the Level of Adherence to Mediterranean Diet on the Parameters of Metabolic Syndrome: A Systematic Review and Meta-Analysis of Observational Studies

High adherence to the Mediterranean diet (MD) has been associated with a lower prevalence of Metabolic Syndrome (MetS). The present study aimed to investigate the impact of MD adherence on parameters of MetS. A systematic literature search was performed in PubMed, Cochrane Central Registry of Clinical Trials (CENTRAL), Scopus, EMBASE, Web of Science and Google Scholar databases. Observational studies that recorded adherence to MD and components/measures of the MetS, such as waist circumference (WC), blood pressure (BP), fasting blood glucose (FBG), high-density lipoprotein (HDL) cholesterol and triglycerides (TG), were included in this study. A total of 58 studies were included in our study. WC and TG were significantly lower in the high adherence MD group (SMD: −0.20, (95%CI: −0.40, −0.01), SMD: −0.27 (95%CI: −0.27, −0.11), respectively), while HDL cholesterol was significantly higher in the same group (SMD: −0.28 (95%CI: 0.07, 0.50). There was no difference in FBG and SBP among the two groups (SMD: −0.21 (95%CI: −0.54, 0.12) & SMD: −0.15 (95%CI: −0.38, 0.07), respectively). MD may have a positive impact on all parameters of MetS. However, further research is needed in this field.     

新发结直肠癌患者膳食模式分析

目的 探讨新发结直肠癌患者的膳食模式与发病的关系,为结直肠癌的发生提供科学的干预方向。方法 以2018—2019年辽宁省某肿瘤医院就诊并经病理学确诊的新发结直肠癌患者和同期在该医院体检中心参加健康体检者为研究对象,新发结直肠癌患者为病例组,按同性别、同年龄1∶1选取健康体检者作为对照组,采用主成分分析法对调查对象的膳食模式进行分析,利用Logistic回归模型分析不同膳食模式对结直肠癌发病风险的影响。结果 本研究共对新发结直肠癌患者232例、健康体检者232人进行调查,2组人群在性别、年龄、文化程度、家庭人均月收入和体力劳动强度分布差异均无统计学意义（均P>0.05）。多因素Logistic回归分析结果显示坚果薯类膳食模式（OR=0.482）、水产奶类膳食模式（OR=0.666）和果蔬素食膳食模式（OR=0.800）是结直肠癌发生的保护性因素,西式膳食模式（OR=1.441）、辛辣熏制膳食模式（OR=1.195）、肉类膳食模式（OR=1.397）和高脂肪膳食模式（OR=1.349）为结直肠癌发病的危险因素。结论 坚果薯类、水产奶类和果蔬素食是结直肠癌发生的保护性因素。西式、辛辣熏制、肉类和高脂肪膳食为结直肠癌发病的危险因素,在结直肠癌的防病宣传健康教育中应该加强饮食健康宣传,提高防病意识,有效降低发病率。     

Diet Quality as Measured by the Healthy Eating Index 2015 and Oral and Pharyngeal Cancer Risk

BackgroundAlcohol and tobacco are the major risk factors for oral and pharyngeal cancer, but diet is likely to have a role, too.ObjectiveThe objective was to analyze the relationship between adherence to the 2015-2020 Dietary Guidelines for Americans (DGA), as measured by the Healthy Eating Index 2015 (HEI-2015), and oral and pharyngeal cancer risk. Moreover, this work aimed to quantify the number of avoidable cases under different scenarios of increased adherence to the DGA, with the use of the potential impact fraction. This estimates the proportion of cases that would occur if the distribution of the risk factor in the population followed an alternative distribution.DesignA multicenter, case–control study was conducted in Italy between 1991 and 2009. Participants’ usual diet for the 2 years preceding study enrolment was assessed using a food frequency questionnaire.Participants and settingCases were 946 patients admitted to major hospitals with incident, histologically confirmed oral and pharyngeal cancer. Controls were 2,492 patients admitted to the same hospitals for acute non neoplastic conditions.Main outcome measuresThe adherence to the DGA was assessed using the HEI-2015 score (range = 0 to 100), based on 13 components. The outcome was oral and pharyngeal cancer.Statistical analyses performedOdds ratios and the corresponding 95% CIs were estimated using multiple logistic regression models adjusted for tobacco, alcohol, and other relevant covariates. The potential impact fraction was estimated under different scenarios of adherence to the DGA.ResultsIn this Italian population the HEI-2015 score ranged from 33.4 to 97.5. A higher HEI-2015 score was associated with a lower risk of oral and pharyngeal cancer, with an odds ratio of 0.70 (95% CI 0.62 to 0.79) for a 10-point increment of the score. The estimated potential impact fraction was 64.8% under the maximum achievable reduction scenario, and it ranged from 9% to 27% following other more feasible scenarios.ConclusionsThe HEI-2015 score was inversely related to oral and pharyngeal cancer risk in this Italian population. This analysis allowed for the estimation of the fraction of preventable cases, under different feasible scenarios. A share of 9% to 27% of avoidable cases of oral and pharyngeal cancer might be obtained across real-world scenarios of adherence to the DGA as measured by the HEI-2015 score.