Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. The disease has its metabolic origin in the diminished transformation of fatty acid substrates into n-3 polyunsaturated fatty acids due to a dysregulation of the lipid metabolism. In this review, we provide updated insights on clinical and molecular characteristics of BCD including underlying mechanisms of BCD, genetic diagnosis, progress in the identification of causative genetic and epigenetic factors, available techniques of exploration and development of novel therapies. This information will help clinicians to improve accuracy of BCD diagnosis, providing the patient reliable information regarding prognosis and clinical prediction of the disease course.

To the best of our knowledge, this study represents the largest effort to determine the genetic alterations underlying BCD in Spain to date. Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD. We report a high prevalence of anterior segment changes in this Spanish BCD cohort, which we consider representative of the Spanish patients.

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The 4D PET-CT study permitted a better characterization of malignant lung lesions compared with the standard PET-CT, because of its higher sensitivity. 4D PET-CT is a recommendable technique in the early diagnosis of malignant lesions.

Purpose The purpose of this paper is to design a culinary education program and ascertain its impact on knowledge, phobias, culinary skills and diet quality in schoolchildren. Design/methodology/approach Repeated measures design to determine changes after the implementation of the culinary education program in a pre-school and primary school located in a Madrid (Spain) neighborhood with a low socioeconomic level. A total of 58 children agreed to participate in the program and 40 parents authorized the evaluation of the effect of the program. Variables were measured with Student’s t-test or Wilcoxon-signed range test for quantitative variables. Effect size was calculated by Cohen’s d. Findings The mean scores in knowledge and beliefs improved from 5.0 to 7.8 (P < 0.001; Cohen’s d = 1), the mean value obtained in the food phobias test decreased from 24.6 to 20.7 (P = 0.01; Cohen’s d = 0.53), diet quality on Kid Med Test score increased from 7.4 to 8.2 (P = 0.06; Cohen’s d = 0.38), and the children improved their culinary skills from 21.2 to 27.9 (P < 0.001; Cohen’s d = 0.66). Research limitations/implications Self-declared data could lead to information biases. Other limitations were the lack of control group and a scarce statistical power that could explain the absence of statistical significance in the results on diet quality. To observe the effects of this change on eating habits, long-term evaluations would have to be carried out. Originality/value The brand-new culinary education program had a positive effect on children’s knowledge of nutrition and culinary skills as well as reducing food phobias. This proposal is beyond the state-of-the-art and could be implemented elsewhere with a robust effect on children, parents and educators.