Coenzyme Q10 in the treatment of mitochondrial disease

Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q10 (CoQ10) and related synthetic quinones are the only agents to date that have proven to be beneficial in the treatment of these heterogeneous disorders. The therapeutic efficacy of CoQ10 is not restricted to patients with an underlying CoQ10 deficiency and is thought to result from its ability to restore electron flow in the mitochondrial respiratory chain (MRC) as well as to increase the cellular antioxidant capacity. At present, however, there is no consensus on the appropriate dosage or therapeutic plasma level of CoQ10, and this information will be required before CoQ10 can be utilized effectively in the treatment of mitochondrial disease. The following review will outline our current knowledge on the use of CoQ10 in the treatment of MRC disorders and primary CoQ10 deficiencies. Keyword

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.Fil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Sangorrin, A.. Hospital Sant Joan de Déu; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Artuch, R.. Hospital Sant Joan de Déu; EspañaFil: Martorell, L.. Hospital Sant Joan de Déu; EspañaFil: Armstrong, J.. Hospital Sant Joan de Déu; EspañaFil: Anton, J.. Hospital Sant Joan de Déu; EspañaFil: Torner, F.. Hospital Sant Joan de Déu; EspañaFil: Vilaseca, M. A.. Hospital Sant Joan de Déu; EspañaFil: Nevado, J.. Hospital Universitario La Paz; EspañaFil: Lapunzina, P.. Hospital Universitario La Paz; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; Españ

The Value of Coenzyme Q10 Determination in Mitochondrial Patients.

Coenzyme Q10 (CoQ) is a lipid that is ubiquitously synthesized in tissues and has a key role in mitochondrial oxidative phosphorylation. Its biochemical determination provides insight into the CoQ status of tissues and may detect CoQ deficiency that can result from either an inherited primary deficiency of CoQ metabolism or may be secondary to different genetic and environmental conditions. Rapid identification of CoQ deficiency can also allow potentially beneficial treatment to be initiated as early as possible. CoQ may be measured in different specimens, including plasma, blood mononuclear cells, platelets, urine, muscle, and cultured skin fibroblasts. Blood and urinary CoQ also have good utility for CoQ treatment monitoring

Resiliencia en niños con cáncer

Entendiendo resiliencia como “la capacidad humana para enfrentar, sobreponerse y ser fortalecido o transformado por experiencias de adversidad” (Grotberg, 2003), se argumenta en este Trabajo Fin de Grado la importancia y necesidad de que se fomente en las escuelas debido a la positiva influencia del enfoque de la resiliencia desde una perspectiva positiva en la formación y evolución de los niños con cáncer. Asimismo, se proponen algunas actividades que el profesor puede tomar como ejemplo para el desarrollo de la resiliencia en el aula

Resiliencia y Trastorno de Aprendizaje Procedimental, un enfoque de trabajo en el aula.

Actualmente existen escasos estudios sobre la relación entre la Resiliencia y los Trastornos de Aprendizaje; en concreto, no se ha encontrado ninguno sobre la vinculación entre el Trastorno de Aprendizaje Procedimental (TAP) y la Resiliencia. Está demostrado que hay un impacto negativo entre las habilidades motrices deficitarias y el desarrollo de la autoestima, el autoconcepto y las relaciones sociales de estos niños. Esta cuestión puede ser trabajada mediante el enfoque de la Resiliencia en el aula de educación primaria, donde se pueden desarrollar fortalezas en los niños con TAP que favorezcan su desarrollo personal y social

Biomedical point-of-care microanalyzer for potentiometric determination of ammonium ion in plasma and whole blood

Acord transformatiu CRUE-CSICSome inborn errors of metabolism and other diseases can result in increasing blood ammonium (hyperammonemia episodes), which can cause serious neurological complications in patients or even death. Early diagnosis, follow up and treatment are essential to minimize irreversible damages in brain. Currently, adequate analytical instrumentation for the necessary ammonium bedside determination is not available in all health centers but only in clinical laboratories of reference hospitals. We therefore have developed a low cost and portable potentiometric Point-of-Care microanalyzer (POC) to address this problem. It consists of a cyclic olefin copolymer-based microanalyzer, the size of a credit card and working in continuous flow, which integrates microfluidics, a gas-diffusion module and a potentiometric detection system. The analytical features achieved are a linear range from 30 to 1000 μmol L NH , a detection limit of 18 μmol L NH and a required sample volume of 100 μL, which comply with the medical requirements. Plasma and blood samples are analyzed with no significant differences observed between ammonium concentrations obtained with both the proposed microanalyzer and the reference method. This demonstrates the value of the developed POC for bedside clinical applications

Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia : relationship with monoamines and symptomatology

The cortico-cerebellar-thalamic-cortical circuit has been implicated in the emergence of psychotic symptoms in schizophrenia (SZ). The kynurenine pathway (KP) has been linked to alterations in glutamatergic and monoaminergic neurotransmission and to SZ symptomatology through the production of the metabolites quinolinic acid (QA) and kynurenic acid (KYNA). This work describes alterations in KP in the post-mortem prefrontal cortex (PFC) and cerebellum (CB) of 15 chronic SZ patients and 14 control subjects in PFC and 13 control subjects in CB using immunoblot for protein levels and ELISA for interleukins and QA and KYNA determinations. Monoamine metabolites were analysed by high-performance liquid chromatography and SZ symptomatology was assessed by Positive and Negative Syndrome Scale (PANSS). The association of KP with inflammatory mediators, monoamine metabolism and SZ symptomatology was explored. In the PFC, the presence of the anti-inflammatory cytokine IL-10 together with IDO2 and KATII enzymes decreased in SZ, while TDO and KMO enzyme expression increased. A network interaction analysis showed that in the PFC IL-10 was coupled to the QA branch of the kynurenine pathway (TDO-KMO-QA), whereas IL-10 associated with KMO in CB. KYNA in the CB inversely correlated with negative and general PANSS psychopathology. Although there were no changes in monoamine metabolite content in the PFC in SZ, a network interaction analysis showed associations between dopamine and methoxyhydroxyphenylglycol degradation metabolite. Direct correlations were found between general PANSS psychopathology and the serotonin degradation metabolite, 5-hydroxyindoleacetic acid. Interestingly, KYNA in the CB inversely correlated with 5-hydroxyindoleacetic acid in the PFC. Thus, this work found alterations in KP in two brain areas belonging to the cortico-cerebellar-thalamic-cortical circuit associated with SZ symptomatology, with a possible impact across areas in 5-HT degradation. The online version contains supplementary material available at 10.1186/s12974-021-02260-6

Lifetime mental health problems in Adult Lower Secondary Education: a student survey

Background/Objective: Adult Lower Secondary Education is an education program for basic qualifications for the labor market. Our study aimed to compare lifetime mental health problems between current Adult Lower Secondary Education students and higher Vocational Education students, as the former constitutes a highly distinct and understudied group. Methods: Findings were based on a cross-sectional self-report survey. Lifetime relative odds of occurrence of mental disorders [i.e., psychiatric disorders typically diagnosed in adults, learning difficulties or deficit hyperactivity disorder (ADHD)] were compared between Adult Lower Secondary Education students (n = 134) and Vocational Education students (n = 149). Results: While the frequency of mental health problems was high in both groups, psychiatric disorders typically diagnosed in adults were more common in Adult Lower Secondary Education students than among other students. Vocational Education students reported higher rates of ADHD. Conclusion: There is a need for additional psychological resources for Adult Lower Secondary Education students, an educational level that is the last path for many to acquire a basic degree

Effects of levels of self-regulation and regulatory teaching on strategies for coping with academic stress in undergraduate students

The SRL vs. ERL TheoryTM predicts that regulation-related factors in the student and in the context combine to determine the student's levels in emotional variables, stress, and coping strategies. The objective of the present research was to test this prediction in the aspect of coping strategies. Our hypothesis posed that students' level of self-regulation (low-medium-high), in combination with the level of regulation promoted in teaching (low-medium-high), would determine the type of strategies students used to cope with academic stress; the interaction of these levels would focus coping strategies either toward emotions or toward the problem. A total of 944 university students completed validated questionnaires on self-regulation, regulatory teaching, and coping strategies, using an online tool. ANOVAs and MANOVAs (3 1; 3 3; 5 1) were carried out, in a quasi-experimental design by selection. Level of self-regulation and level of regulatory teaching both had a significant effect on the type of coping strategies used. The most important finding was that the combined level of self-regulation and external regulation, on a five-level scale or heuristic, predicted the type of coping strategies that were used. In conclusion, the fact that this combination can predict type of coping strategies used by the student lends empirical support to the initial theory. Implications for the teaching- learning process at university and for students' emotional health are discussed