Effects of a Ketogenic Diet on the Assessment of Biochemical and Clinical Parameters in Duchenne Muscular Dystrophy: A Preclinical Investigation.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive skeletal muscle degeneration and systemic effects, including the central nervous system (CNS). This study aimed to assess the impact of a 14-day ketogenic diet (DCet) on biochemical and clinical parameters in a DMD mouse model. Young adult mice (50 days old) were fed DCet, while control groups received a standard diet. On the 14th day, memory and behavior tests were conducted, followed by biochemical evaluations of oxidative stress, inflammatory biomarkers, body weight, feed intake, and brain-derived neurotrophic factor (BDNF) levels. mdx + DCet mice showed reduced mass (0.2 g ± 2.49) and improved memory retention (p < 0.05) compared to controls. Oxidative damage in muscle tissue and CNS decreased, along with a significant cytokine level reduction (p <0.05). The protocol led to an increase in hippocampal BDNF and mitochondrial respiratory complex activity in muscle tissue and the central nervous system (CNS), while also decreasing creatine kinase activity only in the striatum. Overall, a 14-day DCet showed protective effects by improving spatial learning and memory through reductions in oxidative stress and immune response, as well as increases in BDNF levels, consistent with our study's findings.

Association between gestational period and obesity in children with the use of dermatoglyphic traits: A preliminary study.

Events occurring during the gestational period can influence the development of diseases and conditions such as obesity. This study aimed to analyze the association between events occurring in the gestational period and the occurrence of obesity in children based on dermatoglyphic traits. The sample comprised 73 children born in 2009, living in Palhoça, Santa Catarina (SC), Brazil, regularly enrolled in public and private schools in that municipality and who are participants of an ongoing major cohort study project called Coorte Brasil Sul. The results show predictive traits of obesity when comparing BMI and fingerprint groups. Obese male group, presented the figure Ulnar Loop (UL) in the right hand (MDT1) thumb and greater number of ridges in the (MDSQL1) right thumb the greater the BMI; likewise, the older the woman getting pregnant the greater the number of ridges that the child presented in the (MESQL2) left index finger and (MESQL1) right thumb. The results obtained infer the presence of predictive traits of BMI ranges and a possible association between the dermatoglyphic traits of children with obesity and late pregnancy women.

Obesity in people with diabetes in COVID-19 times: Important considerations and precautions to be taken.

At the end of 2019, a new disease with pandemic potential appeared in China. It was a novel coronavirus called coronavirus disease 2019 (COVID-19). Later, in the first quarter of 2020, the World Health Organization declared the outbreak of this disease a pandemic. Elderly people, people with comorbidities, and health care professionals are more vulnerable to COVID-19. Obesity has been growing exponentially worldwide, affecting several age groups. It is a morbidity that is associated with genetic, epigenetic, environment factors and/or interaction between them. Obesity is associated with the development of several diseases including diabetes mellitus, mainly type 2. Diabetes affects a significant portion of the global population. Obesity and diabetes are among the main risk factors for the development of severe symptoms of COVID-19, and individuals with these conditions constitute a risk group. Based on a literature review on obesity in people with diabetes in the framework of the COVID-19 pandemic, this study presents updated important considerations and care to be taken with this population.

Dermatoglyphical impressions are different between children and adolescents with normal weight, overweight and obesity: a cross-sectional study.

Background: Obesity is a health condition that causes a great impact on public health. The aim of this study was to determine the association between dermatoglyphic characteristics and excessive weight in children and adolescents aged 10 to 19 years in the center-west region of Santa Catarina, Brazil. Methods: The sample comprised of 2,172 children and adolescents aged 10 to 19 years old of both sexes and from public and private teaching networks. Results: The results suggested a predictive marker of obesity, with a greater number of lines in left hand finger two (Mesql2) and a higher frequency of the whorl pattern in participants of a healthy weight, while the overweight group had a higher frequency of the radial loop pattern and the obese group had a higher frequency of the ulnar loop pattern. Conclusion: It was concluded that there may be different dermatoglyphic characteristics depending on the nutritional status of children and adolescents.

NCS-1 deficiency causes anxiety and depressive-like behavior with impaired non-aversive memory in mice.

Sensing and regulating intracellular levels of calcium are essential for proper cellular function. In neurons, calcium sensing plays important roles in neuronal plasticity, neurotransmitter release, long-term synapse modification and ion channel activity. Neuronal calcium sensor-1 (NCS-1) is a member of the highly conserved neuronal calcium sensor family. Although NCS-1 has been associated with psychiatric conditions including autism, bipolar disorder and schizophrenia, it is unclear which role NCS-1 plays in behavior. To understand the involvement of NCS-1 in psychiatric conditions, we provided a comprehensive behavioral characterization of NCS-1 knockout (KO) mice. These mice grow and develop normally without apparent abnormalities in comparison to wild type littermates. However, open field showed that NCS-1 deficiency impairs novelty-induced exploratory activity in both KO and heterozygote (HT) mice. Moreover, NCS-1-deficiency also resulted in anxiety- and depressive-like behaviors as demonstrated by elevated plus maze, large open field, forced swim and tail suspension tasks. Furthermore, based on spontaneous object recognition test, non-aversive long-term memory was impaired in NCS-1 KO mice. In contrast, neither social behavior nor a kind of aversive memory was affected under NCS-1 deficiency. These data implicate NCS-1 in exploratory activity, memory and mood-related behaviors, suggesting that NCS-1 gene ablation may result in phenotypic abnormalities associated with neuropsychiatric disorders.

Inibição da atividade da citrato sintase cerebral em um modelo animal de sepse / Inhibition of brain citrate synthase activity in an animal model of sepsis

OBJETIVO: Um amplo corpo de evidência oriundo de estudos experimentais indica que a sepse se associa com um aumento da produção de espécies de oxigênio reativo, depleção de antioxidantes, e acúmulo de marcadores de estresse oxidativo. Além disto, a disfunção mitocondrial foi implicada na patogênese da síndrome de disfunção de múltiplos órgãos. A citrato sintase é uma enzima que se localiza no interior das células, na matriz mitocondrial, sendo uma etapa importante do ciclo de Krebs; esta enzima foi utilizada como um marcador enzimático quantitativo da presença de mitocôndrias intactas. Assim, investigamos a atividade da citrato sintase no cérebro de ratos submetidos ao modelo sepse com de ligadura e punção do ceco. MÉTODOS: Em diferentes horários (3, 6, 12, 24 e 48 horas) após cirurgia de ligadura e punção do ceco, seis ratos foram sacrificados por decapitação, sendo seus cérebros removidos e dissecados o hipocampo, estriato, cerebelo, córtex cerebral e córtex pré-frontal, e utilizados para determinação da atividade de citrato sintase. RESULTADOS: Verificamos que a atividade de citrato sintase no córtex pré-frontal estava inibida após 12, 24 e 48 horas da ligadura e punção do ceco. No córtex cerebral, esta atividade estava inibida após 3, 12, 24 e 48 horas da ligadura e punção do ceco. Por outro lado a citrato sintase não foi afetada no hipocampo, estriato e cerebelo até 48 horas após a ligadura e punção do ceco. CONCLUSÃO: Considerando-se que é bem descrito o comprometimento da energia decorrente da disfunção mitocondrial na sepse, e que o estresse oxidativo desempenha um papel essencial no desenvolvimento da sepse, acreditamos que o comprometimento da energia pode também estar evolvido nestes processos. Se a inibição da citrato sintase também ocorre em um modelo de sepse, é tentador especular que a redução do metabolismo cerebral pode provavelmente estar relacionada com a fisiopatologia desta doença.

OBJECTIVE: An extensive body of evidence from experimental studies indicates that sepsis is associated with increased reactive oxygen species production, depletion of antioxidants, and accumulation of markers of oxidative stress. Moreover, mitochondrial dysfunction has been implicated in the pathogenesis of multiple organ dysfunction syndrome (MODS). Citrate synthase is an enzyme localized in the mitochondrial matrix and an important component of the Krebs cycle; consequently, citrate synthase has been used as a quantitative enzyme marker for the presence of intact mitochondria. Thus, we investigated citrate synthase activity in the brains of rats submitted to a cecal ligation puncture model of sepsis. METHODS: At several times points (3, 6, 12, 24 and 48 hours) after the cecal ligation puncture operation, six rats were killed by decapitation. Their brains were removed, and the hippocampus, striatum, cerebellum, cerebral cortex and prefrontal cortex were dissected and used to determine citrate synthase activity. RESULTS: We found that citrate synthase activity in the prefrontal cortex was inhibited 12, 24 and 48 hours after cecal ligation puncture. In the cerebral cortex, citrate synthase activity was inhibited 3, 12, 24 and 48 hours after cecal ligation puncture. Citrate synthase was not affected in the hippocampus, striatum or cerebellum up to 48 hours after cecal ligation puncture. CONCLUSION: Considering that energy impairment due to mitochondrial dysfunction in sepsis has been well described and that oxidative stress plays a crucial role in sepsis development, we believe that energy impairment may also be involved in these processes. If citrate synthase inhibition also occurs in a sepsis model, it is tempting to speculate that a reduction in brain metabolism may be related to the pathophysiology of this disease.

Inhibition of brain citrate synthase activity in an animal model of sepsis. / Inibição da atividade da citrato sintase cerebral em um modelo animal de sepse.

OBJECTIVE: An extensive body of evidence from experimental studies indicates that sepsis is associated with increased reactive oxygen species production, depletion of antioxidants, and accumulation of markers of oxidative stress. Moreover, mitochondrial dysfunction has been implicated in the pathogenesis of multiple organ dysfunction syndrome (MODS). Citrate synthase is an enzyme localized in the mitochondrial matrix and an important component of the Krebs cycle; consequently, citrate synthase has been used as a quantitative enzyme marker for the presence of intact mitochondria. Thus, we investigated citrate synthase activity in the brains of rats submitted to a cecal ligation puncture model of sepsis. METHODS: At several times points (3, 6, 12, 24 and 48 hours) after the cecal ligation puncture operation, six rats were killed by decapitation. Their brains were removed, and the hippocampus, striatum, cerebellum, cerebral cortex and prefrontal cortex were dissected and used to determine citrate synthase activity. RESULTS: We found that citrate synthase activity in the prefrontal cortex was inhibited 12, 24 and 48 hours after cecal ligation puncture. In the cerebral cortex, citrate synthase activity was inhibited 3, 12, 24 and 48 hours after cecal ligation puncture. Citrate synthase was not affected in the hippocampus, striatum or cerebellum up to 48 hours after cecal ligation puncture. CONCLUSION: Considering that energy impairment due to mitochondrial dysfunction in sepsis has been well described and that oxidative stress plays a crucial role in sepsis development, we believe that energy impairment may also be involved in these processes. If citrate synthase inhibition also occurs in a sepsis model, it is tempting to speculate that a reduction in brain metabolism may be related to the pathophysiology of this disease.

Análise da fadiga central e seu impacto na qualidade de vida dos pacientes portadores de doenças neuromusculares / Analysis of central fatigue and its impact in the quality of life of patients with neuromuscular diseases

Entende-se por doenças neuromusculares aquelas afecções decorrentes do acometimento primário da unidade motora, sendo que, nas crianças, a maior parte dessas afecções é geneticamente determinada. As doenças neuromusculares levam ao comprometimento progressivo da função pulmonar e motora, levando a alterações significativas destas e acentuando o surgimento da fadiga muscular central. A qualidade de vida é considerada como um importante indicador de prognóstico e de evolução das doenças neuromusculares, a qual é utilizada como forma de avaliar o risco de adoecer, além de indicador válido e importante dos benefícios globais do tratamento do paciente. O estudo teve o propósito de avaliar a fadiga central e seu impacto na qualidade de vida dos pacientes com doenças neuromusculares. Foi realizada uma avaliação contendo itens como idade, tempo de diagnóstico, funcionalidade, espirometria, pressão inspiratória e expiratória máximas, escala de severidade de fadiga, desempenho muscular e questionário de qualidade de vida. Na avaliação da qualidade de vida, notou-se que os pacientes avaliados não apresentavam sintomas de fadiga, mas, sintomas de depressão associados com relatos de insatisfação nos itens sobre relações sociais e meio ambiente. Sugere-se que os profissionais da área da saúde estejam aptos a reconhecer e saber diferenciar os sintomas de fadiga central dos sintomas de depressão, para que possam encaminhar os pacientes, no caso de depressão, também para o serviço psicológico e melhorar a qualidade de vida destes pacientes.

Neuromuscular disorders are understood as diseases affecting the motor unit, and in young children most of these diseases are genetic conditions. Neuromuscular disorder leads to pulmonary and motor function involvement causing central muscular fatigue. The quality of life is considered an important indicator of prognostic and evolution of neuromuscular disorder, and it is used to evaluate the possibility to get ill, and also as an important indicator of patient’s treatment benefits. The study aimed at evaluating central fatigue and its impact in quality of life patients with neuromuscular disorders. It was carried out an evaluation with the following items: age, time of diagnosis, functioning, espirometry, maximal inspiratory and expiratory flow, fatigue severity scale, muscular performance and a questionnaire about quality of life. It was observed that patients did not present symptoms of fatigue but, instead, symptoms of depression as reported in social relationship and environment on quality of life evaluation. We suggest that health professionals should be apt to recognize symptoms of central fatigue in order to differentiating from depression symptoms so that they will be able to conduct patients to the right treatment and improve patients’ quality of life.

Análise da funcionalidade e qualidade de vida em pacientes portadores de doenças neuromusculares / Analysis of functioning and quality of life in patients with neuromuscular diseases

Este estudo teve o propósito de analisar dados de funcionalidade e qualidade de vida, além de informações sobre idade, diagnóstico e tempo de diagnóstico, por meio de três avaliações fisioterapêuticas, no período de um ano e meio, dos pacientes portadores de doenças neuromusculares da ASCADIM (Associação Sul Catarinense de Amigos, Familiares e Portadores de Distrofias Musculares Progressivas). Os pacientes avaliados apresentaram queda da funcionalidade e qualidade de vida no decorrer do tempo, em todas as avaliações realizadas, sendo que a DMD (Distrofia Muscular de Duchenne) apresentou diferença significativa estatisticamente na avaliação da funcionalidade e na qualidade de vida quando comparada com os demais grupos de DNM (Doenças Neuromusculares). Sugere-se que o profissional fisioterapeuta, em sua rotina diária, esteja apto e ciente para avaliar a funcionalidade e a qualidade de vida desses pacientes, de forma seqüencial, para obter um diagnóstico preciso, possibilitando estruturar as intervenções de reabilitação, para assim avaliar e garantir bons resultados, além de melhorar a qualidade de vida de portadores de DNM.

This study aims at analyzing functioning and quality of life as well as age, diagnosis and the time of diagnosis of patients with neuromuscular disorders from ASCADIM (Sul Catarinense Association of Friends, Family and Patients with Progressive Muscular Dystrophy), through three physical therapy evaluations during a period of eighteen months. It was observed that patient’s functionality and quality of life was reduced in the course of time, in the three performed evaluations; however the DMD (Duchenne Muscular Dystrophy) showed a statistically significant difference in functioning and quality of life when compared with other groups with NMD (Neuromuscular Disorders). It is suggested that physical therapy professional, in daily routine, should be qualified and conscious to evaluate functioning and quality of life in a sequential way, in order to get an accurate diagnosis, making possible to organize rehabilitations interventions aiming to evaluate and obtain good results, and also improve quality of life of NMD patients.

Efeitos da reabilitação de tronco e membro superior após participação em oficinas de arte por pacientes hemiplégicos / Effect of trunk and upper limb rehabilitation after participating in art workshops for hemiplegic patients

A seqüela mais freqüente no AVC é a hemiplegia e os déficits de movimentos compreendem anormalidade do tônus muscular, exacerbação nos reflexos tendinosos, ajustes posturais, controle de tronco, perda dos movimentos seletivos, coordenação e alteração de sensibilidade tátil e dolorosa. Esta pesquisa teve como objetivo avaliar os efeitos da oficina de arte na espasticidade, controle motor e sensibilidade de membro superior e no controle de tronco em pacientes hemiplégicos. Obteve-se uma amostra de quinze pacientes hemiplégicos que sofreram acidente vascular cerebral. O estudo compreendeu 30 sessões, com duração de 60 minutos, uma vez por semana, visando o correto posicionamento durante as atividades de arte com os membros superiores. Após a aplicação da oficina de arte, teve-se como resultado uma melhora significativa na modulação da espasticidade de flexores de cotovelo e adutores, no controle motor de ombro, cotovelo e mão, além de melhora na sensibilidade tátil e dolorosa em c6, c7, c8 e melhor controle dinâmico e coordenação de tronco quando sentado. Com isso, observou-se a potencialização do tratamento fisioterapêutico através dos trabalhos artísticos em grupo e a diversificação das atividades fisioterapêuticas relacionadas com a reabilitação.

The most frequent sequel after stroke is hemiplegia and movements deficit are as follows: abnormality in muscle tonus, deep tendon reflexes, posture deficits, trunk control, and loss of selective movements, coordination and pain and tactile sensitivity. The aim of this study was to assess the effect of an art workshop on the motor control of spasticity and sensitivity of upper limb and trunk control of hemiplegic patients. The sample was composed by 15 patients who suffered a stroke. The study was carried out in 30 sessions of 60 minutes, once a week, aiming at correcting upper limbs posture during the activities. After applying the art workshop, were observed a significant improvement in elbow flexor and adductors spasticity, motor control of the shoulder, elbow and hand, as well as improvement in pain and tactile sensitivity in c6, c7, c8 and better dynamic control and coordination of trunk in seated position. It was observed that physical therapy treatment was strengthened by artistic work in group and physical activities related to rehabilitation.

Utilização da EMG de superfície como método de análise de força muscular e função respiratória em portadores de distrofinopatias / Use of EMG of surface as method of analysis of strength muscular and breathing function in patients with muscular dystrophy

As distrofinopatias compreendem as Distrofias Musculares de Duchene (DMD) e Becker (DMB), sendo caracterizadas por degeneração progressiva dos músculos esqueléticos, iniciando nas cinturas escapular, pélvica e tronco, com perda de forca muscular, deformidades e perda da deambulação. Estes pacientes possuem diferença significante em relação aos valores de forca muscular e dados da função respiratória em comparação com valores considerados de normalidade. O objetivo deste estudo foi analisar a eficácia da utilização de técnicas de avaliação da forca muscular de forma manual e eletromiografia como exame confiável na identificação da evolução de degeneração destes pacientes, bem como comparação dos valores de função respiratória e eletromiografia com índices de normalidade. Demonstrou-se que os testes de forca muscular manual comparados com os resultados de eletromiografia são subjetivos e, os valores de Pemax são inferiores a Pimax, sendo significativa a fraqueza expiratória. Com isto, os tratamentos e prognósticos fisioterapêuticos se tornam mais fidedignos.

The dystrophy diseases includes Muscular Dystrophy of Duchenne (DMD) and Becker (DMB), being characterized by progressive degeneration of the skeletal muscles, beginning in the scapula waist, pelvic and trunk, with loss of strength muscular, deformities and loss of the ambulation. These patients have significant difference in relation to the values of muscular strength and breathing function data in comparison with considered values of normality. The objective of this study was to analyze the effectiveness of the manual techniques used to the muscular strength evaluation and the electromyography as reliable exam in the identification of the evolution of degeneration of these patients, as well as comparison of the values of breathing function and electromyography with normality indexes. It was demonstrated that the tests of manual muscular strength compared with the electromyographic results are subjective and the values of Pemax are inferior to Pimax, being significant the expiratory weakness. So, the treatments and prognostics of physical therapy become more trustworthy.