Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by bilateral acute or subacute progressive central visual loss. Most cases of LHON syndrome are caused by point mutations in the MT-ND1, MT-ND4, and MT-ND6 genes. Here, we report a novel homoplasmic mutation in the MT-ND1 gene (m.3634A>G, p.Ser110Gly) in a patient with the classical clinical features of LHON syndrome. Several observations support the idea that the mutation is pathogenic and involved in the clinical phenotype of the patient: 1) The mutation affected a highly conserved amino acid, 2) A pathogenic mutation in the same amino acid (m.3635G>A, p.Ser110Asn) was previously reported in a patient with LHON syndrome, 3) The mutation is not recorded in the Mitomap or Human Mitochondrial Genome Database, 4) In silico predictors classified the mutation as "probably damaging", and 5) Cybrids carrying the mutation showed decreased Complex I enzyme activity, lower cell proliferation, and decreased mitochondrial membrane potential relative to control cybrids.

Resilience and prosocial behaviour in Spanish care professionals of dependent persons.

Professional residential care providers face several stressors due to the burden of caring for dependent people. This burden may affect the way in which care is carried out. Resilience, as personal strengths, may help them to be more effective in their workplace and in their interaction with patients, and this may be related to the development of participation skills and prosocial behaviours. A total of 125 professional's caregivers from Spain responded to the Connor-Davidson Resilience Scale Resilience Scale and the PB new Prosocial Conduct Scale over the years 2018 and 2019. We checked the predictive power of resilience as well as other predictors (sex, type of contract and total months worked in professional caregiving) on prosocial behaviour in caregivers' professionals with multiple regression analysis. Results showed resilience as the only significant predictor, explaining 21% of the variance in prosocial behaviour (R2  = 0.21, F(5, 115) = 6.16, p < 0.001). This indicates that resilience is a variable prediction of prosocial behaviour in health and social professionals. Resilience gets in the individual the capacity to be attentive to give answers in certain situations, being a predictor of great relevance of the prosocial behaviours. Thus, it is necessary to deepen the research on professional caregivers to be able to train and empower them in skills that improve their quality of life and by strength, that of dependent people.

Superior oblique tendon thinning as a surgical treatment for Brown syndrome.

PURPOSE: To evaluate the results of a superior oblique thinning technique for the treatment of congenital Brown syndrome. METHODS: The medical records of consecutive patients at a single institution who were diagnosed with congenital Brown syndrome and underwent superior oblique thinning were retrospectively reviewed. In all cases, the prism cover test was used to assess ocular alignment. Standardized nine-gaze photographs were used to evaluate ocular rotations. Ocular torsion was measured using fundus retinography. Intraoperatively, all patients showed a positive forced duction test for elevation from adduction that became negative after a strongly maintained traction test maneuver. RESULTS: A total of 21 eyes of 20 consecutive patients (mean age, 5.8 ± 2.5 years) were included. Preoperatively, 16 patients were orthotropic in primary position; 4, hypotropic. Postoperatively, all patients were orthotropic in primary position. Limitation of elevation in adduction improved from -3.4 ± -0.6 (range, -2 to -4) to 0.6 ± 1 (range, 0 to -3; P < 0.01). Fundus retinography showed >1° change in ocular torsion after surgery in 3 of 6 patients (P > 0.5). Superior oblique underaction or hypertropia did not occur. No superior oblique palsy appeared in any patient. There were no changes beyond 3 months postoperatively except for 1 patient who relapsed 9 months after surgery and 1 patient who improved after 4 years. CONCLUSIONS: Superior oblique thinning is effective in improving elevation in adduction and hypotropia in primary position in patients with Brown syndrome associated with a thickened superior oblique tendon.

Resilience Patterns: Improving Stress Adaptation Based on an Individual's Personal Features.

Resilience, or the capacity to be able to develop oneself successfully despite adverse circumstances, has become a concept of interest in recent years. There is a clear relationship between resilience, psychological well-being, and coping strategies. This study looked at 890 subjects with a mean age of 46.77 (SD = 20.86) years, ranging from 18 and 95 years old. The participants were 40.6% men and 59.4% women. Using this sample, three clusters were developed by MATLAB R2010a and the Self-Organizing Maps toolbox. Two of these had high resilience, and the other one had low resilience; the psychological well-being variables and coping strategies were taken into account. Thereafter, multivariate analysis of variance showed a group effect for the resilience, psychological well-being, and coping strategies variables. Establishing resilient profiles based on variables such as psychological well-being and coping strategies reveals the best features for coping with stressful situations; this could help to promote nonpharmacological therapies for increasing resilience.

Using a cognitive plasticity measure to detect mild cognitive impairment.

This study compared performance in two groups of older adults, one healthy and another with mild cognitive impairment (MCI), in order to determine whether or not they exhibit plasticity and to analyze whether or not plastic and non-plastic participants differed after a delay. To measure cognitive plasticity, the Spain-Complutense Verbal Learning Test (TAVEC) was applied to a total of 113 participants over 65 who were divided into two groups: MCI (N = 51) and control (N = 62). It was concluded that healthy participants performed better, but impaired participants also demonstrated some capacity for learning and plasticity, and it was shown that these improvements were maintained after a delay. Therefore, TAVEC seems a fitting, simple procedure with which to measure cognitive plasticity, and an effective indicator of impairment.

Effects of a reminiscence program among institutionalized elderly adults.

BACKGROUND: Institutionalization during old age requires tremendous adaptability. Among the main consequences of the difficulty of adapting to the institutional context are prevalent depressive symptoms and low well-being. Reminiscence therapy has proven to be among the most effective at minimizing these outcomes. METHOD: This study purpose was to investigate the usefulness of reminiscence intervention in an elderly, institutionalized sample. Following a group format, the intervention lasted eight sessions and compared a treatment group and a control group, using pre-post measures and a single-blind design. We predicted that reminiscence intervention would have a positive impact on depressive symptoms, self-esteem, life satisfaction, and psychological well-being. RESULTS: Significant results were obtained, including a drop in depressive symptoms and improved self-esteem, satisfaction, and psychological well-being. CONCLUSIONS: We conclude that reminiscence intervention yielded positive effects in institutionalized, elderly participants.

[Child and adolescent development: common mental disorders according to age and gender]. / Desarrollo infantil y adolescente: trastornos mentales más frecuentesen función de la edad y el género.

Despite the increase in the incidence and prevalence rates of children and adolescents' mental disorders, there are few works performed with large and representative samples of children and adolescents with psychopathological symptoms. The present work analyses 588 participants referred by first care pediatricians to a specialized unit for children and adolescents' mental health. As a result of the study, a statistically significant relation was found between age and diagnosis: a larger incidence of behavioral disorders, communication disorders, elimination disorders, pervasive developmental disorders, impulse-control disorders from 0 to 5 years; behavioral disorders and attention deficit hyperactivity disorder (ADHD) were more common from 6 to 11 years, behavioral and anxiety disorders were more likely at 12 to 15 years; and, lastly, behavioral disorders were more prevalent from 16 to 18 years. With respect to gender, there was a significant relationship with diagnosis: boys had more behavioral disorders, whereas girl had more anxiety disorders. To conclude, a relationship between mental disorders and developmental achievements could be indicated in the younger group. Additionally, externalizing disorders in boys and internalizing ones n girls were more prevalent across all ages.

Efectividad de una intervención para reducir el miedo a caer en las personas mayores / Effectiveness of an Intervention to Reduce the Fear of Falling in Elderly Persons / Efetividade de uma intervenção para reduzir o medo de cair nas pessoas idosas

Objetivo: las caídas y el miedo a caerse se relacionan entre sí, siendo cada uno de ellos factor de riesgo del otro. Este trabajo pretende analizar la efectividad de una intervención para reducir el miedo a caer y sus consecuencias dado que la aplicación de este tipo de tratamientos ha mostrado resultados satisfactorios. Método: mediante un diseño cuasi-experimental, con medidas pre-pos, se evaluó a 53 sujetos, con edades comprendidas entre 65 y 89 años y que habían sufrido una caída anterior. La muestra fue dividida en grupo control y tratamiento, poniéndose en marcha un método combinado de ejercicios y educación sanitaria para la prevención de caídas. Resultados: se obtuvieron resultados significativos en la calidad de vida relacionada con la salud, el equilibrio y el miedo a caer, observándose mejoras en el grupo tratamiento. Conclusión: la aplicación de intervenciones para la reducción del miedo a caerse en población anciana se plantea como un tratamiento cuyos efectos serían dobles, pues no solo se reduciría el propio miedo sino que, dada la asociación existente, se reduciría la posible caída por repetición.

Objective: Falling and the fear of falling are interrelated, with each being a risk factor of the other. This study is an attempt to analyze the effectiveness of an intervention to reduce the fear of falling and its consequences, since treatments of this type have demonstrated satisfactory results. Method: A quasi-experimental study with pre-post measurements was used to evaluate 53 subjects between the ages of 65 and 89 who had suffered a prior fall. The sample was divided into a control group and a treatment group. The latter was subject to treatment featuring a combination of exercises and health education to prevent falling. Results: The results obtained with respect to quality of life were significant for health, balance and fear of falling, with the treatment group showing progress. Conclusion: The application of interventions to reduce the fear of falling in the elderly population is proposed as a treatment with a twofold effect, not only on reducing fear itself, but also - given the association that exists - on reducing the potential for falling through repetition.

Objetivo: as quedas e o medo de cair se relacionam entre si, sendo cada um deles fator de risco do outro. Este trabalho pretende analisar a efetividade de uma intervenção para reduzir o medo de cair e suas consequências, já que a aplicação desse tipo de tratamentos vem mostrando resultados satisfatórios. Método: mediante um desenho quase experimental, com medidas pré e pós, avaliaram-se 53 sujeitos, na faixa de 65 a 89 anos, que sofreram uma queda. A amostra foi dividida em grupo controle e tratamento, iniciando-se um método combinado de exercícios e educação sanitária para a prevenção de quedas. Resultados: obtiveram-se resultados significativos na qualidade de vida relacionada com a saúde, o equilíbrio e o medo de cair, e observaram-se melhoras no grupo tratamento. Conclusão: a aplicação de intervenções para a redução do medo de cair em população idosa se propõe como tratamento cujos efeitos seriam duplos, uma vez que não só se reduziria o próprio medo, mas também, dada a associação existente, se reduziria a possível queda por repetição.

Comparación entre ancianos sanos con alta y baja reserva cognitiva y ancianos con deterioro cognitivo / Comparison between Healthy Elderly with High and Low Cognitive Reserve and Cognitive Impairment Elderly

Este trabajo presenta la comparación de las características de sujetos con alta y baja reserva cognitiva, y sujetos con baja reserva cognitiva y deterioro cognitivo, diferenciados a partir del desarrollo de una medida ponderada de reserva cognitiva. Mediante un diseño correlacional se evaluaron 200 personas con edad superior a 65 años, no institucionalizados. Los resultados mostraron, por un lado, que el grupo de alta reserva cognitiva obtuvo mejores puntuaciones tanto en el nivel de deterioro cognitivo como en la medida ponderada de reserva que el grupo de baja reserva cognitiva y, por otro lado, el grupo de baja reserva cognitiva mostró un perfil similar al del grupo de deterioro cognitivo, existiendo solamente diferencias en cuanto a la edad. Las diferencias observadas permiten plantear la medida como una variable que se debe tener en cuenta en el diagnóstico de enfermedades neurodegenerativas y su utilidad para establecer posibles tratamientos.

This paper presents the comparison of the characteristics of subjects with high and low cognitive reserve and subjects with low cognitive reserve and cognitive impairment, differentiated from the development of a weighted measure of cognitive reserve. Using a correlational design was evaluated 200 people aged over 65, not institutionalized. The results showed, firstly that high cognitive reserve group performed better on both the level of cognitive impairment as the weighted average of reserves that the group of low cognitive reserve and on the other hand the low cognitive reserve group showed a similar profile to the group of cognitive impairment, existing differences only in age. The observed differences would support the measure as a variable to be considered in the diagnosis of neurodegenerative diseases, and its usefulness to determine possible treatments.

Efecto moderador de la institucionalización en las actividades de la vida diaria y bienestar en el envejecimiento / Moderator effect of living in nursing homes on well-being and activities of daily life in the elderly

OBJETIVO: El envejecimiento con éxito es un concepto multidimensional que se puede evaluar a partir de componentes objetivos y subjetivos como el funcionamiento físico, psicológico y social. El objetivo de este trabajo es comparar el funcionamiento en variables relacionadas con el envejecimiento exitoso en ancianos institucionalizados y no institucionalizados. MÉTODO: Se realizó un diseño de dos grupos independientes, institucionalizados (N=242) y no institucionalizados (N=607), todos de más de 65 años, evaluándose sus actividades de la vida diaria (AVD) y el bienestar psicológico. RESULTADOS: El Índice de Barthel mostró diferencias significativas, siendo inferior la media de los institucionalizados que la de los no institucionalizados. En relación al bienestar, el MANOVA mostró diferencias entre grupos para todas las escalas. En los posteriores ANOVA's la variable crecimiento personal mostró las mayores diferencias y porcentaje de varianza explicada. Se obtuvieron correlaciones significativas de la edad con el Índice de Barthel, y con las siguientes escalas de bienestar psicológico de Ryff: autoaceptación, relaciones positivas con otros, dominio del ambiente y propósito en la vida. CONCLUSIONES: Los institucionalizados muestran puntuaciones significativamente inferiores en AVD y en bienestar psicológico, actuando como variable moderadora, que puede empeorar su situación. La edad afecta de forma más clara al bienestar de los institucionalizados, reafirmándose la necesidad de generar estrategias que mejoren la adaptación de las personas.

OBJECTIVES: Successful aging is a multidimensional concept that can be evaluated from objective and subjective components, such as physical, psychological and social functioning. This study aimed to compare the performance on variables related to successful aging in elderly institutionalized and non-institutionalized. METHODS: We conducted a design of two independent groups, institutionalized (N = 242) and non-institutionalized (N = 607), all aged over 65 years, evaluating their activities of daily living (ADL) and psychological well being. RESULTS: The Barthel index showed significant differences, being the mean of the institutionalized group lower than the mean of the non- institutionalized group. Regarding well-being, MANOVA showed differences between groups for all the scales. In subsequent ANOVA's, the variable personal growth showed the greatest differences and the percentage of explained variance. There were significant correlations between age and the Barthel Index, and the following scales Ryff's psychological well-being: self-acceptance, positive relations with others, environmental mastery and purpose in life. CONCLUSIONS: The institutionalized group has significantly lower scores in ADL and psychological well-being, and therefore living in nursing homes acts as a moderating variable that can worsen the situation. Additionally, age clearly affects the well-being of the institutionalized group, strengthening the need for generating strategies that improve the adaptation of the elderly.

Effects of a reminiscence program among institutionalized elderly adults / Efectos de un programa de reminiscencia en ancianos institucionalizados

Background: Institutionalization during old age requires tremendous adaptability. Among the main consequences of the difficulty of adapting to the institutional context are prevalent depressive symptoms and low wellbeing. Reminiscence therapy has proven to be among the most effective at minimizing these outcomes. Method: This study purpose was to investigate the usefulness of reminiscence intervention in an elderly, institutionalized sample. Following a group format, the intervention lasted eight sessions and compared a treatment group and a control group, using pre-post measures and a single-blind design. We predicted that reminiscence intervention would have a positive impact on depressive symptoms, self-esteem, life satisfaction, and psychological well-being. Results: Significant results were obtained, including a drop in depressive symptoms and improved self-esteem, satisfaction, and psychological well-being. Conclusions: We conclude that reminiscence intervention yielded positive effects in institutionalized, elderly participants (AU)

Antecedentes: la institucionalización en el envejecimiento requiere una gran capacidad de adaptación. Entre las principales consecuencias producidas por la dificultad para adaptarse a un contexto institucionalizado destacan la prevalencia de síntomas depresivos y la disminución de bienestar, siendo la terapia mediante reminiscencia una de las que ha mostrado mejores efectos en la reducción de estas consecuencias. Método: el propósito de este estudio fue investigar la utilidad de la intervención mediante reminiscencia en una muestra de ancianos institucionalizados. La intervención tuvo formato grupal, con una duración de ocho sesiones comparándose un grupo tratamiento con un grupo control, con medidas pre-post mediante un diseño de simple ciego. El objetivo de este trabajo es que la intervención mediante reminiscencia produzca efectos positivos en la sintomatología depresiva así como en autoestima, satisfacción vital y bienestar psicológico. Resultados: se obtuvieron resultados significativos observándose una reducción de síntomas depresivos, así como una mejora de la autoestima, satisfacción y bienestar psicológico. Conclusiones: la intervención mediante reminiscencia produce efectos positivos en sujetos ancianos institucionalizados (AU)

Diagnóstico y tratamiento del trastorno por déficit de atención/hiperactividad: diferencias entre entrevista clínica y prueba psicométrica / Diagnosis and treatment of attention deficit/hyperactivity disorder: Differences between clinical interview and psychometric testing

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Desarrollo infantil y adolescente: trastornos mentales más frecuentes en función de la edad y el género / Child and adolescent development: common mental disorders according to age and gender

A pesar del incremento en las tasas de incidencia y prevalencia de los trastornos en la infancia y adolescencia, son pocos los trabajos con muestras amplias y representativas de niños y adolescentes con síntomas psicopatológicos. El presente trabajo analiza 588 sujetos derivados por los pediatras de Atención Primaria a una unidad especializada de Salud Mental de Infancia y Adolescencia. Como resultados se observan relaciones significativas entre edad y diagnóstico, de modo que de 0-5 años la mayor incidencia se da en trastornos de conducta, comunicación, eliminación, control de impulsos y trastornos generalizados del desarrollo; entre 6-11 aparecen también los trastornos de conducta seguidos del trastorno por déficit de atención e hiperactividad (TDAH); entre 12-15 años, trastornos de conducta y de ansiedad; y de 16 hasta 18 años, trastornos de conducta. Respecto al género, existe relación significativa con el diagnóstico, con mayor incidencia en los chicos de los trastornos de la conducta, y de ansiedad en las chicas. Como conclusiones, se indica la existencia de relación entre trastornos y adquisiciones evolutivas en el grupo de menor edad, y mayor incidencia de trastornos externalizantes en chicos e internalizantes en chicas en todos los grupos de edad (AU)

Despite the increase in the incidence and prevalence rates of children and adolescents’ mental disorders, there are few works performed with large and representative samples of children and adolescents with psychopathological symptoms. The present work analyses 588 participants referred by first care pediatricians to a specialized unit for children and adolescents’ mental health. As a result of the study, a statistically significant relation was found between age and diagnosis: a larger incidence of behavioral disorders, communication disorders, elimination disorders, pervasive developmental disorders, impulse control disorders from 0 to 5 years; behavioral disorders and attention deficit hyperactivity disorder (ADHD) were more common from 6 to 11 years, behavioral and anxiety disorders were more likely at 12 to 15 years; and, lastly, behavioral disorders were more prevalent from 16 to 18 years. With respect to gender, there was a significant relationship with diagnosis: boys had more behavioral disorders, whereas girl had more anxiety disorders. To conclude, a relationship between mental disorders and developmental achievements could be indicated in the younger group. Additionally, externalizing disorders in boys and internalizing ones n girls were more prevalent across all ages (AU)

Síndrome de Fells-Waddel / Waddell Fells syndrome

Objetivo: Describir la fenomenología, génesis y alteraciones musculares del Síndrome de Fell-Waddel (FW) como parte de los desórdenes inervacionales congénitos. Se presentan dos casos. Método: Se realizó un análisis de la genética del rombencéfalo para comprender las posibles alteraciones del FW. Se analizaron dos casos, a los que se realizó la cirugía bajo anestesia tópica para el análisis de las funciones musculares. Resultados: En ambos casos se demostró la restricción en las diferentes rotaciones oculares, siendo mayor en el adulto. El debilitamiento de los rectos inferiores provocó una exotropia importante al frente, la divergencia en el intento de depresión y convergencia en el intento de elevación que tuvo sólo leve mejoría con el debilitamiento de los oblicuos superiores, en el segundo caso se analiza con cirugía bajo anestesia tópica su persistencia con los oblicuos superiores desinsertados. Conclusiones: Considerando la anomalía reportada de la división superior del III nervio en las disgnesias congénitas, podemos atribuir los cambios presentados en ambos casos a inervaciones aberrantes de la división inferior del III nervio craneal a los rectos laterales lo que correspondería con la divergencia e el intento de depresión, y a su vez la convergencia en el intento de elevación seria secundaria a la orden inhibitoria a los rectos laterales, quedando funcionando los restos mediales. El debilitamiento de los rectos inferiores, cirugía más frecuente en los síndromes de fibrosis de músculos extraoculares tipo I provocará una exotropia al frente que debe ser corregida.

Objective: To describe clinical characteristics, genetic and muscular anomalies in Fells-Waddel syndrome (FW), a congenital cranial dysinnervation disorder. Method: We analyzed the genetics of rhombencephalon to explain alterations in FW. We present two cases of FW which underwent surgery where orbital alterations were demonstrated. Topical anesthesia was used in the second case for analysis of muscular functions. Results: Restriction was demonstrated in both cases, but it was worse in the adult. Recession of the inferior rectus caused a big exotropia. Divergence in depression and convergence in elevation were improved only partially after recession of superior oblique. In case 2, the patient was alert under topical anesthesia, and while these muscles were free, the anomalies persisted. Conclusions: There is an anomaly of superior division of III nerve in these cases, so these movements can be secondary to aberrant innervations of inferior division of the III nerve to the lateral rectus, this can explain divergence during depression. Convergence in elevation is explained because of the inhibitory effect on the lateral rectus while de medial rectus are still functional. Recession of inferior rectus is the most common surgery in these cases, which will cause a big exotropia that must be corrected.