Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia

Aim To investigate whether genotyping could be used as a cost-effective screening step, preceding next-generation sequencing (NGS), in molecular diagnosis of familial hypercholesterolaemia (FH) in Swedish patients. Methods and results Three hundred patients of Swedish origin with clinical suspicion of heterozygous FH were analysed using a specific array genotyping panel embedding 112 FH-causing mutations in the LDLR, APOB and PCSK9 genes. The mutations had been selected from previous reports on FH patients in Scandinavia and Finland. Mutation-negative cases were further analysed by NGS. In 181 patients with probable or definite FH using the Dutch lipid clinics network (DLCN) criteria (score >= 6), a causative mutation was identified in 116 (64%). Of these, 94 (81%) were detected by genotyping. Ten mutations accounted for more than 50% of the positive cases, with APOB c.10580G>A being the most common. Mutations in LDLR predominated, with (c.2311+1_2312-1)(2514)del (FH Helsinki) and c.259T>G having the highest frequency. Two novel LDLR mutations were identified. In patients with DLCN score A was higher than previously reported in Sweden. The lack of demonstrable mutations in the LDLR, APOB and PCSK9 genes in similar to 1/3 of patients with probable FH strongly suggests that additional genetic mechanisms are to be found in phenotypic FH.Peer reviewe

Pharmacological Preconditioning with Diazoxide in the Experimental Hypothermic Circulatory Arrest Model

Background: Hypothermic circulatory arrest includes a remarkable risk for neurological injury. Diazoxide, a mitochondrial adenosine triphosphate-dependent potassium ion (K+ATP) channel opener, is known to have cardioprotective effects. We assessed its efficacy in preventing ischemic injury in a clinically relevant animal model.Methods: Eighteen piglets were randomized into a diazoxide group (n = 9) and a control group (n = 9). Animals underwent 60 minutes of hypothermic circulatory arrest at 18 degrees C. Diazoxide (5 mg/kg + 10 mL NaOH + 40 mL NaCl) was infused during the cooling phase. Metabolic and hemodynamic data were collected throughout the experiment. After 24-hour follow-up, whole brain, heart, and kidney biopsy specimens were collected for analysis.Results: Cerebellar Cytochrome-C and caspase-3 activation was higher in the control group (P = .02 and P = .016, respectively). Antioxidant activity tended to be higher in the diazoxide group (P = .099). Throughout the experiment, the oxygen consumption ratio was higher in the control animals (P-g = .04), as were the lactate levels (P-g = .02). Cardiac function tended to be better in diazoxide-treated animals.Conclusion: Diazoxide might confer neuroprotective effect as implied by the immunohistochemical analysis of the brain. Additionally, the circulatory effects of diazoxide were beneficial, supporting its neuroprotective effect

Remote Ischemic Preconditioning Protects the Brain Against Injury After Hypothermic Circulatory Arrest

Background-Ischemic preconditioning (IPC) is a mechanism protecting tissues from injury during ischemia and reperfusion. Remote IPC (RIPC) can be elicited by applying brief periods of ischemia to tissues with ischemic tolerance, thus protecting vital organs more susceptible to ischemic damage. Using a porcine model, we determined whether RIPC of the limb is protective against brain injury caused by hypothermic circulatory arrest (HCA).Methods and Results-Twelve piglets were randomized to control and RIPC groups. RIPC was induced in advance of cardiopulmonary bypass by 4 cycles of 5 minutes of ischemia of the hind limb. All animals underwent cardiopulmonary bypass followed by 60 minutes of HCA at 18 degrees C. Brain metabolism and electroencephalographic activity were monitored for 8 hours after HCA. Assessment of neurological status was performed for a week postoperatively. Finally, brain tissue was harvested for histopathological analysis.Study groups were balanced for baseline and intraoperative parameters. Brain lactate concentration was significantly lower (P < 0.0001, ANOVA) and recovery of electroencephalographic activity faster (P < 0.05, ANOVA) in the RIPC group. RIPC had a beneficial effect on neurological function during the 7-day follow-up (behavioral score; P < 0.0001 versus control, ANOVA). Histopathological analysis demonstrated a significant reduction in cerebral injury in RIPC animals (injury score; mean [interquartile range]: control 5.8 [3.8 to 7.5] versus RIPC 1.5 [0.5 to 2.5], P < 0.001, t test).Conclusions-These data demonstrate that RIPC protects the brain against HCA-induced injury, resulting in accelerated recovery of neurological function. RIPC might be neuroprotective in patients undergoing surgery with HCA and improve long-term outcomes. Clinical trials to test this hypothesis are warranted. (Circulation. 2011; 123: 714-721.

Corrigendum: Quality of life and quality of education among physiotherapy students in Europe (Frontiers in Medicine, (2024), 11, (1344028), 10.3389/fmed.2024.1344028)

In the published article, an author name was incorrectly written as [Sara Laura Cortés-Amaro]. The correct spelling is [Sara Cortés-Amaro]. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way. The original article has been updated

Quality of life and quality of education among physiotherapy students in Europe

Background: The study of physiotherapy is challenging and can affect the students’ well-being and quality of life. The aim of this study was to describe and compare factors that could affect well-being among students across Europe. Methods: In this descriptive cross-sectional study using an online questionnaire survey, students of bachelor’s physiotherapy programs from 23 European faculties, from 8 countries, were interviewed on mental health and stress burden, sleep quality, dietary habits, and physical activity. Results: Although 75% of students rated their quality of life positively and 47% were satisfied with their mental health, 65% showed higher levels of stress and 51% described impaired sleep quality. The minimum physical activity of 150 min weekly was described by 79% of students, within which 67% engaged in strengthening twice a week. Students with a higher stress load/worse psychological health also showed worse sleep quality and lower amount of physical activity, women were significantly worse off. In terms of physical activity and sleep quality, students from Finland and Kosovo achieved the best results, while students from Italy, Greece, and Portugal achieved the worst. Students from Italy indicated the greatest dissatisfaction with the organisation of the study system and communication with teachers, while in Kosovo students rated the communication and study organisation the highest. All students had a problem with adhering to nutritional habits. Students from Italy and Spain, with the lowest body mass indexes and weight averages, were closest to the nutrition recommendations. Conclusion: We demonstrated that physiotherapy students are burdened with stress, suffer from sleep disorders, and do not follow the recommendations regarding nutrition nor physical activity. There are significant differences between universities and countries in some aspects

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Material docente sobre los contenidos de la asignatura optativa del Grado de Ingeniería Química de la Universidad de Barcelon