ABSTRACT
The study of biologically active substances-secondary metabolites of plants that exhibit geroprotective properties is an actual and popular direction in medicine to prevent early aging. This work aims to select the cultivation parameters for obtaining in vitro cell cultures of meadowsweet containing the largest amount of biologically active substances (BAS) for their further extraction as candidate substances for geroprotectors. To specify the effectiveness of the selected cell culture cultivation parameters, biomass growth for callus and root cultures, growth index, specific growth rate, and viability for suspension cultures was carried out. The study results made it possible to select the nutrient media for the cultivation of cell cultures of meadowsweet. It has been found that the greater the antioxidant activity of the extracts, the greater the antimicrobial properties it exhibits. In this study, cell cultures in vitro and alcohol extracts from the plant Filipendula ulmaria were considered as raw materials rich in candidate substances for geroprotectors. According to the data obtained, the plant is rich in hydroxybenzoic and salicylic acids, spireoside, avicularin, and hyperoside.
O estudo de substâncias biologicamente ativas - metabólitos secundários de plantas que apresentam propriedades geroprotetoras - é uma tendência atual e popular no campo da medicina para a prevenção do envelhecimento precoce. O objetivo deste trabalho foi selecionar os parâmetros de cultivo para obtenção de culturas celulares in vitro de Ulmária contendo a maior quantidade de substâncias biologicamente ativas (SBA), para sua posterior extração como substâncias candidatas a serem geroprotetoras. Para especificar a eficácia dos parâmetros selecionados de cultivo em cultura de células, foi realizada a análise de crescimento de biomassa para culturas de calos e raízes, índice de crescimento, taxa de crescimento específica e viabilidade para culturas em suspensão. Os resultados do estudo possibilitaram a seleção do meio nutriente para o cultivo de células de Ulmária. Verificou-se que, quanto maior a atividade antioxidante dos extratos, maiores eram as propriedades antimicrobianas exibidas. Neste estudo, culturas celulares in vitro e extratos alcoólicos da planta Filipendula ulmaria foram considerados matérias-primas ricas em substâncias candidatas a serem geroprotetoras. De acordo com os dados obtidos, a planta é rica em ácidos hidroxibenzoico e salicílico, espirosídeo, avicularina e hiperosídeo.
Subject(s)
Plants, Medicinal/genetics , Aging , Aging, Premature , AntioxidantsABSTRACT
El desgaste natural de los dientes ocurre dependiendo de factores como: calidad de la estructura dental, calidad de la saliva, biotipo facial que determina la fuerza de mordida; de acuerdo a estos factores locales bucales se va envejeciendo la dentadura. Pero los deportistas presentan un patrón de desgaste mayor y continuo debido al tipo de deporte que practican, las horas de entrenamiento, el consumo de bebidas con pH ácido, el cepillado dental vigoroso; todos estos factores pueden conducirlos a que desarrollen lesiones no cariosas (AU)
The natural wear of the teeth occurs depending on factors such as: quality of the dental structure, quality of the saliva, facial biotype that determines the bite force, according to these local oral factors, the teeth age. But in athletes they present a pattern of greater and continuous wear due to the type of sport they practice, the hours of training, the consumption of drinks with an acidic pH, vigorous tooth brushing; all these factors can lead them to develop non-carious lesions (AU)
Subject(s)
Humans , Male , Female , Tooth/physiopathology , Aging/physiology , Aging, Premature , Tooth Abrasion/physiopathology , Tooth Erosion/physiopathology , Risk Factors , Tooth Attrition/physiopathologyABSTRACT
El envejecimiento y la longevidad son procesos que involucran una serie de factores genéticos, bioquímicos y ambientales. En esta revisión se tratan algunas cuestiones sobre estos dos procesos biológicos y epigenéticos. Se presentan los genes más importantes en estos procesos, así como se ejemplifican enfermedades que presentan un aceleramiento o falla en la longevidad y el envejecimiento. Se usa el análisis inteligente de datos para hallar interacciones de proteínas/genes que expliquen estos dos fenómenos biológicos.
Aging and longevity are processes that involve a series of genetic, biochemical and environmental factors. This review addresses some issues about these two biological and epigenetic processes. The most important genes in these processes are presented, as well as diseases that present an acceleration or failure in longevity and aging. Intelligent data analysis is used to find protein/gene interactions that explain these two biological phenomena.
Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Biological Phenomena , Aging , Cellular Senescence , Genes , Genetics , Longevity , Quality of Life , Life Expectancy , Apoptosis , Oxidative Stress , Telomerase , Aging, Premature , Ecuador , Immune System , MetabolismABSTRACT
O envelhecimento bucal precoce apresenta cada vez uma maior incidência nos consultórios odontológicos e sua degradação aos tecidos orais exige uma atenção por parte do cirurgiãodentista devido ao seu alto grau de complexidade. Esse envelhecimento precoce é causado principalmente por hábitos parafuncionais, dieta ou ambos. Suas consequências são desgastes patológicos dos tecidos dentários, extrusão passiva, perda de dimensão vertical e comprometimento estético e funcional. Por conta disso, o presente estudo teve como objetivo realizar um relato de caso clínico em um paciente jovem e com queixa estética como consequência de hábitos parafuncionais, aonde foram realizados uma reabilitação oral envolvendo aumento da dimensão vertical de oclusão através de Table Tops sem desgastes dentários e restaurações estéticas, ambas com resina composta. Essa reabilitação devolveu a DVO da paciente, trazendo conforto, contatos estáveis, guias de desoclusão e satisfação estética e funcional por parte da paciente(AU)
Early oral aging has an increasing incidence in dental offices and its degradation to oral tissues requires attention from the dentist due to its high degree of complexity. This premature aging is mainly caused by parafunctional habits, diet, or both. Its consequences are pathological wear of dental tissues, passive extrusion, loss of vertical dimension and aesthetic and functional impairment. Because of this, the present study aims to carry out a clinical case report in a young patient with an aesthetic complaint as a result of parafunctional habits, where an oral rehabilitation was carried out involving an increase in the vertical dimension of occlusion through Table Tops without dental wear and aesthetic restorations, both with composite resin. This rehabilitation returned the patient's OVD, bringing comfort, stable contacts, disocclusion guides and aesthetic and functional satisfaction on the part of the patient(AU)
Subject(s)
Humans , Female , Adult , Aging , Composite Resins , Dental Restoration, Permanent , Mouth , Sleep Wake Disorders , Stress, Physiological , Vertical Dimension , Bruxism , Gastroesophageal Reflux , Aging, Premature , Esthetics, Dental , Tooth WearABSTRACT
RESUMEN La tendinopatía calcificada del hombro se caracteriza por el depósito de cristales de hidroxiapatita en uno o varios tendones del hombro. Dentro de los procesos que ocurren en esta entidad está la fase de reabsorción, en la que los depósitos podrían migrar hacia estructuras adyacentes. Una muy rara complicación es la migración hacia la unión miotendinosa del tendón correspondiente, la cual provoca una importante reacción inflamatoria muscular que puede objetivarse en pruebas complementarias específicas. Presentamos un caso clínico de una tendinopatía calcificante del subescapular, con pos terior migración hacia la unión miotendinosa causando una miositis del mismo.
ABSTRACT Calcific tendinopathy of the shoulder is characterised by the deposit of hydroxy apatite crys tals in one or more tendons of the shoulder. Within the processes that occur within this disorder, there is the resorption phase, in which the deposits could migrate towards adjacent structures. A very rare complication is the migration towards the myotendinous junction of the corresponding tendon, which causes a significant muscular inflammatory reaction that can be seen in specific complementary tests. A clinical case is presented of a subscapular calcific tendinopathy, with subsequent migra tion to the myotendinous junction, causing myositis of the same.
Subject(s)
Humans , Female , Middle Aged , Pathological Conditions, Signs and Symptoms , Musculoskeletal Diseases , Aging, Premature , Edema , Tendinopathy , Muscular DiseasesABSTRACT
RESUMEN La crioterapia es el conjunto de procedimientos que utilizan el frío en la terapéutica médica. Emplea diversos sistemas y tiene como resultado la disminución de la temperatura de la piel; produce una destrucción local de tejido de forma eficaz y controlada. El objetivo de este trabajo fue realizar una actualización para exponer los aspectos esenciales sobre formas de empleos, indicaciones, complicaciones y contraindicaciones. Existen varios métodos de aplicación de la crioterapia, que incluyen las técnicas de congelación de spray o aerosol y con aplicadores, el método criosonda, y el uso de termoacoplador. Está indicada en varias entidades, entre las que se encuentran la queratosis seborreica y actínica, lentigos solares, carcinoma basocelular y espinocelular in situ. Las complicaciones más observadas son vesicoampollas, hiperpigmentación e hipopigmentación, y las contraindicaciones comunes son intolerancia al frío, tumores con bordes no delimitados o con pigmentación muy oscura, en localizaciones cerca de los márgenes de los ojos, párpados, mucosas, alas nasales y el conducto auditivo. El dominio de los métodos de aplicación e indicaciones es indispensable para elegir la conducta adecuada; de esta forma se evitan complicaciones y efectos colaterales (AU).
ABSTRACT Cryotherapy is the whole of procedures that use cold in medical therapy. It uses various systems and results in a decrease in skin temperature, leading to a local destruction of tissue in an effective and controlled way. The objective of this work is to make an update to expose the essential aspects on the ways of use, indications, complications and contraindications. There are several cryotherapy application methods that include spray or spray freezing techniques and applicators, the cryoprobe method, and the thermocoupler use. It is indicated in several entities, and among the most frequent are seborrheic and actinic keratosis, solar lentigo, basal cell and squamous cell carcinomas in situ. The most observed complications are vesical blisters, hyperpigmentation and hypopigmentation, and the most common complications are: cold intolerance, tumors with non-delimited borders or very dark pigmentation, located near the margins of the eyes, on eyelids, mucous membranes, nasal wings, and on the ear canal. The mastery of the signs and application methods are essential to choose the appropriate behavior against the disease: side effects and complications are avoided that way (AU).
Subject(s)
Humans , Male , Female , Cryotherapy/methods , Dermatology/methods , Therapeutics , Wounds and Injuries/diagnosis , Aging, Premature/diagnosis , Nitrogen/therapeutic useABSTRACT
Although chronic obstructive pulmonary disease (COPD) is regarded as a chronic inflammatory lung disease, the disease mechanism is still not known. Intriguingly, aging lungs are quite similar to COPD-affected lungs in many ways, and COPD has been viewed as a disease of accelerated premature aging of the lungs. In this paper, based on a literature review, we would like to propose immunosenescence, age-associated decline in immunity, as a critical mechanism for the development of COPD. Immunosenescence can cause a low-grade, systemic inflammation described as inflammaging. This inflammaging may be directly involved in the COPD pathogenesis. The potential contributors to the development of inflammaging in the lungs possibly leading to COPD are discussed in the review paper. A notable fact about COPD is that only 15% to 20% of smokers develop clinically significant COPD. Given that there is a substantial inter-individual variation in inflammaging susceptibility, which is genetically determined and significantly affected by the history of the individual's exposure to pathogens, immunosenescence and inflammaging may also provide the answer for this unexpectedly low susceptibility of smokers to clinically significant COPD.
Subject(s)
Aging , Aging, Premature , Immunosenescence , Inflammation , Lung , Lung Diseases , Pulmonary Disease, Chronic ObstructiveABSTRACT
ABSTRACT OBJECTIVE: To describe genetic aspects and characteristics associated with premature aging in adults with Down syndrome. METHOD: A cross-sectional study was carried out of 28 individuals with Down syndrome, aged between 20 and 54 years old (13 women and 15 men), in a university community genetics program, who were referred by philanthropic institutions which offers support to people with disabilities and their families. The genetic and functional data were recorded in anamnesis forms. RESULTS: Karyotype analysis revealed free trisomy 21, with only one hereditary case of translocation between chromosomes 15/21. In the sample group, functional difficulties were observed in locomotion, sedentary lifestyles, behavior disorders, memory loss and depression symptoms, as well as loss of autonomy at more advanced ages. Only three people had reading and writing skills and 16 had good social relationships and friend-making skills. CONCLUSION: The study confirms that premature aging in Down syndrome starts in adulthood, and therapeutic follow-up is recommended with the implementation of interventions to prevent deficits and stimulate cognition, and activities for quality of life.
OBJETIVO: Descrever aspectos genéticos e características de envelhecimento precoce na síndrome de Down. MÉTODO: Estudo descritivo transversal de 28 indivíduos com síndrome de Down, entre 20 e 54 anos de idade (13 mulheres e 15 homens), atendidos em programa universitário de genética comunitária por solicitação de instituições filantrópicas especializadas, que oferecem apoio a pessoas com deficiência e suas famílias. Os dados genéticos e funcionais foram registrados em ficha de anamnese. RESULTADO: A análise cariotípica mostrou trissomia 21 livre, com apenas um caso hereditário de translocação entre os cromossomos 15/21. Constataram-se dificuldades funcionais na locomoção, sedentarismo, desordens de conduta, perda de memória e depressão, assim como a perda de autonomia em idades mais avançadas. Apenas três pessoas tinham domínio da leitura e escrita e 16 apresentavam bom relacionamento social e habilidades de fazer amigos. CONCLUSÃO: O estudo realizado confirma que sinais de envelhecimento precoce na síndrome de Down podem ser verificados já na fase adulta, sendo recomendado o acompanhamento terapêutico com implantação de medidas de prevenção aos déficits, estimulo à cognição e atividades voltadas à qualidade de vida.
Subject(s)
Down Syndrome , Aging, Premature , Nerve DegenerationABSTRACT
Introducción: Los estilos de vida no saludables se relacionan con hábitos y conductas que deterioran los órganos y sus funciones generando envejecimiento prematuro y enfermedades crónicodegenerativas, estas condiciones se ven agravadas por las desigualdades sociales en ciertos grupos laborales, tal es el caso de los conductores de taxis, los cuales presentan riesgos ambientales, físicos, químicos, bioquímicos, así como exigencias laborales como son extensión de jornada, bajos salarios, las formas de organización y la falta de apoyo sindical. Estudiar el proceso salud/enfermedad de estos trabajadores, permite identificar el desgaste laboral y la integridad mental determinada por la cantidad e intensidad de trabajo y proponer medidas de prevención. Método: Se diseñó un estudio transversal, observacional y descriptivo, se aplicó una encuesta, valoración antropométrica, análisis bioquímicos, cuyos resultados tuvieron un procesamiento para identificar asociaciones y significancia estadística. Resultados: el 32.5% de la muestra conduce más de 9 horas. al día sin descansos, el 21.8% presentó supervisión estricta y 48.7% son obligados a cubrir cuotas diarias. Más de la mitad de la muestra se encuentra con exposición constante a condiciones adversas tanto en la unidad como en el lugar de trabajo. Se encontró asociación de estas condiciones con la prevalencia de enfermedades crónico degenerativas como diabetes mellitus, hipertrigliceridemia e hipercolesterolemia, más altas con las reportadas a nivel nacional. Conclusiones: las condiciones de los conductores de taxis tanto laborales como de salud mental y física se encuentran deterioradas de manera extrema por lo cual se necesitan estrategias multidisciplinarias para su disminución(AU)
Introduction: Unhealthy lifestyles are related to habits and behaviors that can contribute to the deterioration and function of organ systems, leading to premature aging and degenerative chronic diseases. These conditions are aggravated due to the social inequality in certain occupations. Such is the case of taxi drivers, who experience environmental, physical, chemical, and biochemical risks, as well as high work demands such as long work days, low pay and little union support. By studying the health / disease process of these workers we can identify occupational burnout and mental integrity determined by the amount and intensity of the work, and propose preventive measures. Methods: A cross-sectional, observational and descriptive study was designed. We obtained data via a survey, anthropometric measurements, and laboratory testing. We examined associations and tested them for statistical significance. Results: Of the overall respondents, 32.5% reported driving more than 9 hours a day without breaks; 21.8% mentioned strict supervision and 48.7% reported being required to meet daily fee quotas. More than half the sample was continuously exposed to adverse conditions in the cab and the workplace. We found associations between these working conditions and the prevalence of chronic degenerative diseases, including diabetes, hypertriglyceridemia and hypercholesterolemia, higher than national average prevalence figures. Conclusion: occupational, physical and psychological working conditions among taxi drivers are very poor, and multidisciplinary strategies are needed to diminish them(AU)
Subject(s)
Humans , Occupational Risks , Burnout, Professional , Hypertriglyceridemia , Mental Health , Aging, Premature , Diabetes Mellitus , Hypercholesterolemia , Life Style , Mexico , Occupational Groups , Surveys and QuestionnairesABSTRACT
This study aimed to identify changes related to brain parenchyma as advancing age in healthy domestic cats. Our hypothesis is that cats suffer cerebral and cerebellar atrophy and show focal changes in signal intensity of the brain parenchyma in accordance with the progression of age. Twelve adult (1 to 6 years), eleven mature (7 to11 years) and ten geriatric non-brachycephalic cats (12 years or more of age) underwent brain magnetic resonance imaging (MRI). There were no changes in signal intensity and contrast uptake in brain parenchyma of the cats. Geriatric animals showed significantly lower average thickness of the interthalamic adhesion and percentage of the cerebral parenchyma volume in relation to intracranial volume than those found in the adult group. No significant differences were found between groups for cerebral volume, cerebellar volume and percentage of cerebellar volume in relation to intracranial volume. The results of this study indicate that atrophy of the cerebral parenchyma, including the interthalamic adhesion, occurs with age in domestic cats, confirming the hypothesis of the study. However, the results did not corroborate the hypothesis that cats show cerebellar atrophy and focal changes in signal intensity of the brain parenchyma with advancing age.(AU)
Este estudo objetivou a identificação de alterações no parênquima cerebral relacionadas ao avanço da idade em gatos domésticos saudáveis. Nossa hipótese é de que os gatos sofrem atrofia cerebral e cerebelar, além de alterações focais na intensidade do sinal do parênquima cerebral, de acordo com a progressão da idade. Doze gatos não braquicéfalos adultos (1 a 6 anos), onze maduros (7 a 11 anos) e dez geriátricos (12 anos ou mais) foram submetidos à ressonância magnética encefálica. Não foram observadas alterações na intensidade do sinal e na captação de contraste do parênquima encefálico nos gatos. Os animais geriátricos apresentaram médias da espessura da adesão intertalâmica e porcentagem do volume do parênquima cerebral, em relação ao volume intracraniano, significativamente menores a aquelas encontradas no grupo dos adultos. Não foram encontradas diferenças significativas entre os grupos para volume cerebral, volume cerebelar e porcentagem de volume cerebelar em relação ao volume intracraniano. Os resultados deste estudo indicam que a atrofia do parênquima cerebral, incluindo a adesão intertalâmica, ocorre com o avanço da idade em gatos domésticos, confirmando a hipótese do estudo. No entanto, os resultados não corroboraram a hipótese de que os gatos apresentam atrofia cerebelar e alterações focais na intensidade do sinal do parênquima encefálico com a progressão da idade.(AU)
Subject(s)
Animals , Cats , Cats/anatomy & histology , Aging, Premature/diagnosis , Parenchymal Tissue/abnormalitiesABSTRACT
El síndrome de Kindler es un cuadro autosómico recesivo, caracterizado por fotosensibilidad, envejecimiento prematuro, poiquilodermia y propensión al desarrollo de cáncer de piel. Se presenta una paciente de 16 años, procedente del sur de Honduras, hija de padres no consanguíneos, sin antecedentes familiares relevantes y con historia de dermatosis diseminada que afecta la cabeza, el tronco y las extremidades superiores e inferiores. Esta se caracterizaba por la presencia de placas atróficas con telangiectasias, que se exacerbaban ante la exposición al sol, con formación de ampollas, especialmente en el dorso de las manos, y por cicatrices atróficas similares al papel de cigarrillo.
Kindler syndrome is an autosomal recessive syndrome characterized by photosensitivity, premature aging, poikiloderma and propensity to develop skin cancer.A sixteen years old patient from southern Honduras, daughter of non consanguineous parents with no family history, is presented. In her first year she developed a dermatosis disseminated to the head, trunk and upper and lower extremities, characterized by atrophic plaques with telangiectasias exacerbated up to blistering when exposed to the sun, especially on the back of hands, with atrophic scars similar to paper cigarette.
Subject(s)
Humans , Female , Adolescent , Epidermolysis Bullosa , Rothmund-Thomson Syndrome , Aging, Premature , HondurasABSTRACT
In almost all human tissues and organs, adult stem cells or tissue stem cells are present in a unique location, the so-called stem cell niche or its equivalent, continuously replenishing functional differentiated cells. Those endogenous stem cells can be expanded for cell therapeutics using ex vivo cell culture or recalled for tissue repair in situ through cell trafficking and homing. In the aging process, inefficiency in the endogenous stem cell-mediated healing mechanism can emerge from a variety of impairments that accumulate in the processes of stem cell self-renewal, function, differentiation capacity, and trafficking through cell autonomous intrinsic pathways (such as epigenetic alterations) or systemic extrinsic pathways. This review examines the homeostasis of endogenous stem cells, particularly bone marrow stem cells, and their dysregulation in disease and aging and discusses possible intervention strategies. Several systemic pro-aging and rejuvenating factors, recognized in heterochronic parabiosis or premature aging progeroid animal models, are reviewed as possible anti-aging pharmaceutical targets from the perspective of a healthy environment for endogenous stem cells. A variety of epigenetic modifications and chromosome architectures are reviewed as an intrinsic cellular pathway for aging and senescence. A gradual increase in inflammatory burden during aging is also reviewed. Finally, the tissue repair and anti-aging effects of Substance-P, a peptide stimulating stem cell trafficking from the bone marrow and modifying the inflammatory response, are discussed as a future anti-aging target.
Subject(s)
Humans , Adult Stem Cells , Aging , Aging, Premature , Bone Marrow , Cell Culture Techniques , Cell Self Renewal , Epigenomics , Hematopoietic Stem Cells , Homeostasis , Models, Animal , Parabiosis , Rejuvenation , Stem Cell Niche , Stem CellsABSTRACT
Contexto: A capacidade para o trabalho é um conceito que envolve condições físicas, mentais e sociais, além de ser um construto subjetivo que poderá acompanhar trabalhadores em nível individual ou coletivo. Objetivos: Descrever o perfil das produções científicas sobre capacidade para o trabalho entre trabalhadores do Brasil e identificar a prevalência e os fatores associados à capacidade para o trabalho. Métodos: Trata-se de uma revisão sistemática realizada na Biblioteca Virtual de Saúde e na Scopus. Os estudos selecionados foram aqueles publicados de 1996 a 2013, tendo como população-alvo os trabalhadores do Brasil e que utilizaram o índice de capacidade para o trabalho (ICT). Resultados: As produções científicas se concentraram nas áreas da Saúde Pública e de Enfermagem, nas regiões Sudeste e Sul do país e com trabalhadores de Enfermagem e do setor de produção. A prevalência da capacidade para o trabalho inadequada (0,0 a 81,2%) variou entre as diferentes categorias profissionais. Os fatores associados à capacidade para o trabalho foram os individuais, relacionados à saúde, e aqueles referentes às condições de trabalho ambiental e organizacional. Conclusões: Com base nos resultados e considerando a capacidade para o trabalho inadequada, um agravo evitável no campo da saúde do trabalhador, são necessárias ações e estratégias nos ambientes de trabalho para prevenção e promoção da saúde dos trabalhadores brasileiros. Também são necessários maiores investimentos em pesquisas longitudinais e de intervenção com diversos grupos de trabalhadores do Brasil.
Context: The ability to work involves physical, mental, and social conditions, as well as being a subjective construct that can be related to workers at the individual or collective level. Objectives: To describe the profile of scientific productions on the ability to work among Brazilian workers and to identify the prevalence and factors associated with the ability to work. Methods: This is a systematic review carried out in the Virtual Health Library and in Scopus. Studies selected were those published from 1996 to 2013, whose target population was Brazilian workers and which used the work ability index (WAI). Results: The scientific productions focused on the fields of Public Health and Nursing, in the Southeast and South regions of the country, and on workers in the Nursing and production fields. The prevalence of inadequate work abilities (0.0 to 81.2%) varied among the different professional categories. Factors associated with the ability to work were individual, health-related, and those related to environmental and organizational working conditions. Conclusions: Based on the results and considering inadequate work ability, which is an avoidable problem in the worker's health field, actions and strategies are necessary for prevention and promotion of health among Brazilian workers. Further investments are also needed in longitudinal and interventional studies with various groups of Brazilian workers.
Subject(s)
Humans , Work Capacity Evaluation , Occupational Health , Aging, Premature , Brazil/epidemiology , PrevalenceABSTRACT
Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich environment we live in, the DNA molecule is under constant threat from endogenous or exogenous insults. DNA damage could trigger the DNA damage response (DDR), which involves DNA repair, the regulation of cell cycle checkpoints, and the induction of programmed cell death or senescence. Dysregulation of these physiological responses to DNA damage causes developmental defects, neurological defects, premature aging, infertility, immune system defects, and tumors in humans. Some human syndromes are characterized by unique neurological phenotypes including microcephaly, mental retardation, ataxia, neurodegeneration, and neuropathy, suggesting a direct link between genomic instability resulting from defective DDR and neuropathology. In this review, rare human genetic disorders related to abnormal DDR and damage repair with neural defects will be discussed.
Subject(s)
Humans , Aging , Aging, Premature , Ataxia , Cell Cycle Checkpoints , Cell Death , Central Nervous System Diseases , DNA Breaks, Double-Stranded , DNA Breaks, Single-Stranded , DNA Damage , DNA Repair , DNA , Genomic Instability , Immune System , Infertility , Intellectual Disability , Microcephaly , Neuropathology , PhenotypeABSTRACT
The sirtuin proteins constitute class III histone deacetylases (HDACs). These evolutionarily conserved NAD(+)-dependent enzymes form an important component in a variety of cellular and biological processes with highly divergent as well as convergent roles in maintaining metabolic homeostasis, safeguarding genomic integrity, regulating cancer metabolism and also inflammatory responses. Amongst the seven known mammalian sirtuin proteins, SIRT1 has gained much attention due to its widely acknowledged roles in promoting longevity and ameliorating age-associated pathologies. The contributions of other sirtuins in the field of aging are also gradually emerging. Here, we summarize some of the recent discoveries in sirtuins biology which clearly implicate the functions of sirtuin proteins in the regulation of premature cellular senescence and accelerated aging. The roles of sirtuins in various cellular processes have been extrapolated to draw inter-linkage with anti-aging mechanisms. Also, the latest findings on sirtuins which might have potential effects in the process of aging have been reviewed.
Subject(s)
Animals , Humans , Aging, Premature , Genetics , Longevity , Genetics , Sirtuin 1 , Genetics , MetabolismABSTRACT
Introdução: Fibromialgia é uma condição que envolve dor crônica generalizada. Além disso, mulheres de meia idade com fibromialgia apresentam alterações no padrão de marcha, expondo-se prematuramente a um padrão de marcha semelhante ao encontrado na população idosa. Objetivo: Determinar os parâmetros espaciais (linear e angular) da marcha de mulheres com fibromialgia e compará-los com idosas sem essa condição. Métodos: 25 mulheres (10 no grupo com fibromialgia e 15 no grupo de idosas) se qualificaram como voluntárias para participar do estudo. A análise cinemática foi realizada por meio de um sistema optoeletrônico, e as variáveis lineares e angulares foram determinadas. Resultados: Ambos os grupos apresentaram similaridades na velocidade da marcha, tamanho da passada, cadência e amplitude de movimento do quadril, joelho e tornozelo (p > 0,05), exceto para a rotação da pelve, na qual o grupo com fibromialgia apresentou maior rotação de quadril (p < 0,05) quando comparado ao grupo de idosas. Além disso, houve correlação negativa no grupo com fibromialgia entre rotação do quadril e dor no glúteo (r = -0,69; p < 0,05), e entre obliquidade da pelve e dor na região do trocanter maior (r = -0,69; p < 0,05). Conclusão: Mulheres de meia idade com fibromialgia apresentaram um padrão de marcha similar ao de idosas, o qual é caracterizado por amplitude de movimento, tamanho da passada e velocidade da marcha reduzidos. .
Background: Fibromyalgia is a condition which involves chronic pain. Middle-aged individuals with fibromyalgia seem to exhibit changes in gait pattern, which may prematurely expose them to a gait pattern which resembles that found in the elderly population. Objective: To determine the 3 D spatial (linear and angular) gait parameters of middle-aged women with fibromyalgia and compare to elderly women without this condition. Methods: 25 women (10 in the fibromyalgia group and 15 in the elderly group) volunteered to participate in the study. Kinematics was performed using an optoelectronic system, and linear and angular kinematic variables were determined. Results: There was no difference in walking speed, stride length, cadence, hip, knee and ankle joints range of motion between groups, except the pelvic rotation, in which the fibromyalgia group showed greater rotation (P < 0.05) compared to the elderly group. Also, there was a negative correlation with pelvic rotation and gluteus pain (r = - 0.69; P < 0.05), and between pelvic obliquity and greater trochanter pain (r = - 0.69; P < 0.05) in the fibromyalgia group. Conclusion: Middle-aged women with fibromyalgia showed gait pattern resemblances to elderly, women, which is characterized by reduced lower limb ROM, stride length and walking speed. .
Subject(s)
Humans , Female , Aged , Fibromyalgia/physiopathology , Aging, Premature/physiopathology , Gait , Middle AgedABSTRACT
Introdução: o aumento da expectativa de vida das pessoas com síndrome de Down tem revelado um envelhecimento precoce, associado à mutação do cromossomo 21, o que torna relevante estabelecer como este envelhecimento precoce atinge a audição, uma vez que as alterações auditivas podem interferir no processo de comunicação. Objetivo: caracterizar a audição de sujeitos com síndrome de Down com mais de 25 anos de idade. Material e método: foram avaliados 40 adultos com síndrome de Down por meio da inspeção visual do meato acústico externo, imitância acústica e audiometria tonal. Resultados: dos 40 adultos, 12 apresentaram rolha de cera, tendo sido possível a remoção destas em oito sujeitos. Dos 40 sujeitos, 35 permitiram a realização da imitância acústica e 27 conseguiram responder corretamente à audiometria tonal. Nos sujeitos que realizaram a audiometria, observou-se predomínio de limiares auditivos dentro dos padrões de normalidade para sujeitos de 25 a 30 e de 30 a 40 anos e de perda auditiva neurossensorial para sujeitos de 40 a 50 e de 50 a 60 anos; a configuração audiométrica predominante foi a descendente para sujeitos de 40 a 50 e de 50 a 60 anos; as médias tonais foram maiores nas frequências mais altas do audiograma, com desvio padrão indicando heterogeneidade do grupo pesquisado. Conclusão: observou-se perda auditiva de configuração compatível com presbiacusia em sujeitos adultos com síndrome de Down, em idades inferiores às descritas na literatura.
Introduction: The expanded lifespan of people with Down?s syndrome has shown a premature aging of these people, associated to chromosome 21, which makes it important to highlight the hearing alterations, once they can interfere in the communication process. Objective: Characterize the hearing abilities of people with Down?s older than 25. Material and method: 40 people with Down?s were evaluated through visual analysis of the external acoustic meatus, impedance audiometry and tonal audiometry. Results: out of the 40 adults, 12 presented excessive earwax, possible to be removed in 8 of them; 35 allowed the impedance audiometry, 27 could respond correctly to the tonal audiometry. Among the ones with whom the tonal audiometry was conducted: standard hearing thresholds were observed between the ages of 25 to 30 and 30 to 40 and sensorineural hearing loss between 40 to 50 and 50 to 60. The prevailing audiometric result was the descendant one between 40 to 50 and 50 to 60; tonal averages were higher in the highest frequencies of the audiogram, however indicating a standard deviation which shows heterogeneity of the results for the studied group. Conclusion: hearing loss compatible to presbycusis in Down adults, in ages under the ones described in the literature, was observed.
Introducción: El aumento de la expectativa de vida de las personas con síndrome de Down viene revelando un envejecimiento temprano, asociado a la mutación del cromosoma 21. Eso hace relevante establecer como este envejecimiento temprano atinge la audición, una vez que las alteraciones auditivas pueden dificultar el proceso de comunicación. Objetivo: Caracterizar la audición de personas con síndrome de Down con más de 25 años de edad. Material e método: fueron evaluados 40 adultos con síndrome de Down a través de la inspección visual del conducto auditivo externo, imitanciometria y audiometría tonal. Resultados: de los 40 adultos, 12 presentaron cera, siendo posible retirarla en ocho personas. De los 40 sujetos, 35 permitieron realizar la imitanciometria y 27 consiguieron responder correctamente la audiometria tonal. En los sujetos que realizaron la audiometria tonal, se observó predominio de límites auditivos dentro de lo esperado para las edades de 25 a 30 y de 30 a 40 años y de pérdida auditiva del tipo neurosensorial para sujetos de 40 a 50 y de 50 a 60 años; la configuración audiométrica predominante fue decreciente para las edades de 40 a 50 y de 50 a 60 años; los pormedios tonales fueron mayores en las frecuencias más altas del audiograma, con desvio padron indicando heterogeneidad de los resultados para el grupo estudiado. Conclusión: se observó pérdida auditiva de configuración compatible con presbiacusia en sujetos adultos con síndrome de Down, en edades inferiores a las indicadas en la literatura.
Subject(s)
Humans , Adult , Aging, Premature , Down Syndrome , Hearing , Life ExpectancyABSTRACT
Introducción: El Síndrome de Werner es un raro trastorno genético de envejecimiento prematuro. Caso clínico: Varón de 38 años, con historia de cese precoz del crecimiento y falta de desarrollo puberal. Además de haber sido operado por fracturas recurrentes de extremidades y cataratas bilateral. A los 15 - 20 años su aspecto fisico comienza a cambiar adquiriendo un aspecto senil. A los 23 años es diagnosticado de diabetes mellitus y esquizofrenia. Es evaluado y se le encuentra osteoporosis, desnutrición y depresión, iniciando tratamiento con buena respuesta. Conclusión: Se presenta un caso de Síndrome de Werner con criterios diagnósticos definidos.
Introduction: Werner' s syndrome is a rare genetic disorder of premature aging. Case report: A 38 years old man, with a history of early cessation of growth and lack of pubertal development. Besides being operated by recurrent fractures oflimbs and bilateral cataracts. At 15 to 20 years his physical appearance begins to change acquiring a senile aspect. At 23 he was diagnosed with diabetes mellitus and schizophrenia. It is evaluated and is found osteoporosis, malnutrition and depression, initiating treatment with good response. Conclusion: We report a case of Werner syndrome with defined diagnostic criteria.
Subject(s)
Humans , Male , Adult , Aging, Premature/pathology , Werner SyndromeABSTRACT
Introducción: el síndrome de Cockayne es un trastorno genético autosómico recesivo, caracterizado por detención del crecimiento, retraso del desarrollo, envejecimiento prematuro y fotosensibilidad. La prevalencia es de 1/100.000 nacidos vivos; es más frecuente en el sexo masculino con una relación 3:1. Desde el punto de vista genético se han descrito dos grupos: A: mutación del gen CSA (CKN1, ERCC8) en el cromosoma 5q12; B: mutación del gen CSB (ERCC6) en el cromosoma 10q11. Presentamos dos casos diagnosticados sobre bases clínicas pero en los que carecemos de estudios genéticos. Caso 1. Niña escolar producto de padres consanguíneos quien desde el nacimiento presenta hipotonía e hipomotilidad, retardo global del desarrollo, déficit pondoestatural, cara envejecida, rasgos dismórficos, fotosensibilidad, espasticidad e hipoacusia neurosensorial y hallazgos tomográficos característicos del síndrome. Actualmente está en rehabilitación. Caso 2. Adolescente de sexo femenino con crisis convulsivas desde los dos meses, poco progreso en el desarrollo psicomotor y pondoestatural, rasgos dismórficos y cara envejecida, hipoacusia neurosensorial bilateral, distonías repetitivas; en varias oportunidades sufrió procesos infecciosos respiratorios uno de los cuales, con neumonía bilateral, la llevó a la muerte a los 14 años. Conclusión: se presentan estos casos y se revisa la literatura para llamar la atención sobre este síndrome de modo que se lo sospeche tempranamente en pacientes con retardo del desarrollo psicomotor, envejecimiento prematuro y fotosensibilidad. El diagnóstico temprano es la base para brindar consejería genética a los padres.
Introduction: Cockayne syndrome is an autosomal, recessive genetic disorder, characterized by poor growth, development impairment, premature aging, and photosensitivity. Prevalence is 1/100.000 live births, and it is more frequent in males with a ratio of 3:1. From the genetic point of view two groups have been described: Group A: mutation of the CSA gene (CKN1, ERCC8) on chromosome 5q12. Group B: mutation of the CBS gene (ERCC6) on chromosome 10q11. We report two cases that were diagnosed solely on clinical bases because no genetic studies were available. Case 1. A school-girl, born from consanguineous parents. Since birth she has suffered from hypotonia and hypomotility. She has development delay, low weight and height gain, aged face, dysmorphic features, photosensitivity, spasticity, sensorineural hearing loss, and typical findings in the CT scan. She is currently on rehabilitation. Case 2. A female teenager with seizures from the age of two months; she made slow progress in psychomotor development, and had low weight and height gain. Her features were dysmorphic and her face aged. She had bilateral sensorineural hearing loss, and repeated dystonias. She suffered from repeated respiratory infections and died, aged 14, from respiratory failure secondary to bilateral pneumonia. Conclusion: We report these two cases and a review of the literature in order to attract attention to Cockayne syndrome so that early diagnoses can be made in children with psychomotor development delay, premature aging and photosensitivity. Early diagnoses are the basis for genetic counseling.