ABSTRACT
No disponible
Subject(s)
Humans , Genetic Counseling , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Practice Guidelines as Topic/standards , Deglutition Disorders , Follow-Up Studies , Myotonic Dystrophy/complicationsABSTRACT
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Subject(s)
Genetic Counseling , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Practice Guidelines as Topic/standards , Deglutition Disorders , Follow-Up Studies , Humans , Myotonic Dystrophy/complicationsABSTRACT
La homocistinuria es un error congénito del metabolismo de la metionina que conduce al acúmulo de metionina y de su principal metabolito, homocisteína, en plasma, orina y tejidos. El acúmulo de homocisteína posee toxicidad sobre los sistemas óseo (osteoporosis), ocular (luxación del cristalino), nervioso (convulsiones, alteraciones psiquiátricas) y vascular (accidentes cerebrovasculares, enfermedad cardiovascular). Presentamos 2 casos de homocistinuria en 2 pacientes hermanos y, a continuación, revisamos las estrategias terapéuticas disponibles (AU)
Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder (AU)
Subject(s)
Humans , Male , Young Adult , Adult , Homocystinuria/diet therapy , Methionine , Vitamin B 6/therapeutic use , Cystine/therapeutic use , Folic Acid/therapeutic use , Betaine/therapeutic useABSTRACT
Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder.
Subject(s)
Homocystinuria/diet therapy , Adult , Diet , Homocysteine/blood , Homocystinuria/blood , Humans , Male , Methionine/metabolism , Tetrahydrofolate Dehydrogenase/metabolism , Young AdultABSTRACT
El envejecimiento conlleva una disminución de la percepción sensorial afectando a la calidad de vida. Estas pérdidas sensoriales influyen en la relación del mayor con su entorno, teniendo especial relevancia en el proceso de elección de los alimentos y en la pérdida del placer de comer contribuyendo a un deterioro de su estado nutricional. Se ha postulado que los suplementos de minerales como selenio, zinc y cobre en la dieta pueden mejorar la percepción sensorial o ralentizar su deterioro en ancianos. No obstante, en una búsqueda bibliográfica en PubMed y en la colaboración Cochrane solo se han encontrado ensayos clínicos que relacionan el zinc con el gusto y la visión. El principal estudio donde se evalúa el beneficio del zinc en ancianos es el estudio ZENITH, observándose una mejoría de la sensibilidad para el sabor salado. En otro ensayo realizado en pacientes con disgeusia, el tratamiento con zinc produjo una mejoría significativa de la percepción de los sabores. En cuanto a la implicación del zinc en la visión, encontramos dos metanálisis realizados por la colaboración Cochrane, donde se revisan todos los ensayos clínicos disponibles con vitaminas y minerales para el tratamiento y la prevención de la degeneración macular asociada a la edad (DMAE), y se concluye que el zinc retrasa la progresión de la DMAE pero no es eficaz para prevenirla. El ensayo clínico más relevante es el estudio AREDS, que demuestra que el efecto beneficioso del zinc es mayor cuando se asocia con antioxidantes (AU)
Elderly involve a decreased sensorial perception that affect quality of life. This loss of perception influence between elderly patient and their environment and have an important outstanding for food chose, lost of food intake contributing to a poor nutritional status. It has been proposed minerals supplements as selenium, zinc or cupper in the diet could improve the sensorial perception and to slow down the elderly deterioration. Nevertheless, in a Pubmed and Cochrane search only have been found studies that related zinc with taste and vision. The main study that evaluate the zinc benefits in elderly is the ZENITH study, and in this study we can observe a salty taste improve sensibility. In other assay made in disgeusia patients with zinc treatment produced a significant flavors perception improvement. As far as zinc and vision implications, we'll found two metaanalysis executed with Cochrane collaboration and we can review all the clinical studies availables with minerals and vitamins for the treatment and prevention of the macular degeneration related with age, these clinical studies concluded that zinc is very effective in the macular slow down progression but doesn't have any effect in the macular prevention. The most important publication is the AREDS'study and shows that the zinc benefit is high when this mineral is associated to antioxidants agents (AU)
Subject(s)
Humans , Aged , Aging/physiology , Taste Perception/physiology , Olfactory Perception/physiology , Dietary Minerals/analysis , Mineral Deficiency , Malnutrition/physiopathology , Sensation Disorders/complications , Zinc/metabolism , Macular Degeneration/physiopathology , Risk FactorsABSTRACT
La malabsorción o alteración en la absorción de micronutrientes o macronutrientes es uno de los mecanismos patogénicos de malnutrición en la enfermedad de Crohn, conjuntamente con disminución de la ingesta, interacciones farmacológicas. Los oligoelementos cumplen diversas funciones esenciales para el correcto funcionamiento del organismo: antioxidante, formar parte de la hemoglobina. Presentamos un caso con enfermedad de Crohn con malabsorción severa de macronutrientes, vitaminas y oligoelementos (AU)
Malabsorption, defined as an impaired micronutrient and/or macronutriente absorption, is one of the main contributors to malnutrition in Crohn's disease, together with decreased energy intake, drug interactions and several other factors. Trace nutrients play essential roles in human physiology: they convey antioxidant properties and play structural role in haemoglobin and several other proteins. We describe a patient with Crohn's disease and severe malabsorption of macronutrients, vitamins and trace elements (AU)
Subject(s)
Humans , Male , Young Adult , Trace Elements/deficiency , Malabsorption Syndromes/physiopathology , Crohn Disease/physiopathology , Malnutrition/physiopathology , Avitaminosis/complications , Nutrients , Dietary Carbohydrates/analysis , Dietary Fats/analysis , Dietary Proteins/analysisABSTRACT
UNLABELLED: 40-80% of cancer patients suffer from diverse degrees of malnutrition, depending on tumor subtype, location and staging and treatment strategy. Malnutrition is associated with increased morbidity and mortality in cancer patients. Both the high prevalence and prognostic significance of malnutrition imply the need for accurate malnutrition screening in cancer patients, which could select those patients at risk of nutritional derangements who would benefit from nutritional therapy. Patient-generated subjective global screening (VSG-GP) remains the reference malnutrition screening method, but its complexity and training requirements prevent wider applicability by oncologists. Thus, easier, more clinic-based malnutrition screening tools are required for cancer patients. In this article we propose a basic screening tool based on three items: weight loss, changes in physical activity and decrease in food intake. Two affirmative responses out of the three questions is considered as a positive response, and would prompt expert nutritional assessment. RESULTS: Our screening interview showed positive correlation with VSG-GP (ROC 0.85, p<0.001) and allowed for a rapid and accurate identification of patients with cancer-related malnutrition.
Subject(s)
Malnutrition/diagnosis , Malnutrition/etiology , Neoplasms/complications , Surveys and Questionnaires , Adolescent , Adult , Female , Humans , Male , Young AdultABSTRACT
La desnutrición es muy frecuente en los pacientes oncológicos y está presente en el 40-80% de los casos dependiendo del tipo de tumor, localización y estadio tumoral. La malnutrición se asocia a un aumento en el número y gravedad de las complicaciones, lo que conlleva una mayor morbimortalidad en estos pacientes. Por ello es prioritario realizar una adecuada valoración del estado nutricional para diagnosticar los casos de malnutrición y establecer un tratamiento correcto y, además detectar aquellos pacientes con un mayor riesgo de padecerla, con el fin de iniciar un tratamiento nutricional preventivo. La valoración global subjetiva generada por el paciente (VSG-GP) es una herramienta muy útil pero que no es aplicada por los oncólogos en las consultas porque es compleja y precisa de mayor entrenamiento para su realización. Se propone un método de cribado más sencillo basado en 3 cuestiones: pérdida de peso, cambio en la actividad física y en la ingesta y se compara dicho método con el de referencia que es la VSG- GP. El método de cribado permite determinar la presencia de desnutrición si hay un mínimo de 2 respuestas afirmativas. Posteriormente se debe realizar una VSG-GP para catalogar el grado de desnutrición existente y en función de ello el experto en nutrición planificar un abordaje nutricional adecuado. RESULTADOS: nuestro método de cribaje mostró una correlación positiva con la VSG-GP (ROC 0.85, p<0.001) y permitió una identificación rápida y precisa de los pacientes oncológicos con desnutrición (AU)
40-80% of cancer patients suffer from diverse degrees of malnutrition, depending on tumor subtype, location and staging and treatment strategy. Malnutrition is associated with increased morbidity and mortality in cancer patients. Both the high prevalence and prognostic significance of malnutrition imply the need for accurate malnutrition screening in cancer patients, which could select those patients at risk of nutritional derangements who would benefit from nutritional therapy. Patient-generated subjective global screening (VSG-GP) remains the reference malnutrition screening method, but its complexity and training requirements prevent wider applicability by oncologists. Thus, easier, more clinic-based malnutrition screening tools are required for cancer patients. In this article we propose a basic screening tool based on three items: weight loss, changes in physical activity and decrease in food intake. Two affirmative responses out of the three questions is considered as a positive response, and would prompt expert nutritional assessment. RESULTS: Our screening interview showed positive correlation with VSG-GP (ROC 0.85, p<0.001) and allowed for a rapid and accurate identification of patients with cancer-related malnutrition (AU)
Subject(s)
Humans , Malnutrition/diagnosis , NeoplasmsABSTRACT
La ascitis quilosa es la acumulación de quilo en la cavidad peritoneal debido a la ruptura u obstrucción de los conductos linfáticos abdominales. Clínicamente se manifiesta por distensión abdominal. El criterio diagnóstico más útil es el aumento de los triglicéridos en el líquido ascítico. Las neoplasias son la causa más frecuente, aunque también deben considerarse etiologías menos comunes como la cirugía abdominal. El tratamiento consiste en dieta hiperproteica con restricción de la grasa y suplementos de triglicéridos de cadena media. En caso de no respuesta o contraindicación de la vía oral- enteral se opta por nutrición parenteral reservándose la cirugía para las situaciones refractarias al tratamiento conservador. Presentamos un caso de ascitis quilosa secundaria a linfadenectomía retroperitoneal (AU)
Chylous ascites derives from chyle leakage into the peritoneal cavity, either due to rupture or obstruction of abdominal lymphatic vessels. The main clinical sign is abdominal distention, while diagnosis requires the presence of triglycerides in ascitic fluid. Neoplasms are the most common cause of chylous ascites, although less common causes, such as abdominal surgery, should also be considered. The mainstay of therapy is hyperproteic diet with fat restriction and middle-chain triglycerides. Parenteral nutrition is reserved for cases in which dietary treatment fails to restore an optimal nutritional status or is contraindicated, whereas surgery is considered for patients that are deemed refractory to conservative therapy. We present a case of chylous ascites secondary to retroperitoneal lymphadenectomy (AU)
Subject(s)
Humans , Male , Adult , Lymph Node Excision/adverse effects , Postoperative Complications , Chylous Ascites/etiologyABSTRACT
Chylous ascites derives from chyle leakage into the peritoneal cavity, either due to rupture or obstruction of abdominal lymphatic vessels. The main clinical sign is abdominal distention, while diagnosis requires the presence of triglycerides in ascitic fluid. Neoplasms are the most common cause of chylous ascites, although less common causes, such as abdominal surgery, should also be considered. The mainstay of therapy is hyperproteic diet with fat restriction and middle-chain triglycerides. Parenteral nutrition is reserved for cases in which dietary treatment fails to restore an optimal nutritional status or is contraindicated, whereas surgery is considered for patients that are deemed refractory to conservative therapy. We present a case of chylous ascites secondary to retroperitoneal lymphadenectomy.
Subject(s)
Chylous Ascites/etiology , Lymph Node Excision/adverse effects , Postoperative Complications/etiology , Protein-Energy Malnutrition/etiology , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Bleomycin , Chylous Ascites/blood , Chylous Ascites/diagnosis , Chylous Ascites/diet therapy , Chylous Ascites/surgery , Cisplatin , Combined Modality Therapy , Diet, Fat-Restricted , Dietary Proteins/administration & dosage , Dietary Supplements , Etoposide , Humans , Lymphatic Metastasis , Male , Orchiectomy , Paracentesis , Postoperative Complications/diet therapy , Protein-Energy Malnutrition/diet therapy , Seminoma/drug therapy , Seminoma/surgery , Testicular Neoplasms/drug therapy , Testicular Neoplasms/surgery , Triglycerides/therapeutic use , Zinc Sulfate/therapeutic useABSTRACT
Menopause is one of the critical periods of a woman's life during which weight gain and onset or worsening of obesity are favoured. It is at this period when obesity prevalence is the highest. There are several causes for this disorder, ones clearly related with hypo-oestrogenism and others depend on age favouring increased food intake and decreased energy waste. This weight gain is related to adverse health effects that get worse due to changes in fat distribution observed during menopause. The increase in visceral fat favours the development of insulin resistance and its clinical consequences such as carbohydrate metabolism impairments and type 2 diabetes, arterial hypertension, and dyslipidaemia, leading to increased cardiovascular risk, among other complications.
Subject(s)
Menopause/physiology , Obesity/physiopathology , Female , Humans , Obesity/etiology , Obesity/therapy , Risk FactorsABSTRACT
La menopausia es una de las etapas críticas en la vida de la mujer en la que se favorece la ganancia de peso y el desarrollo o agravamiento de la obesidad. Es en ésta época cuando se encuentra la prevalencia de obesidad más elevada. Las causas de éste problema son múltiples, unas se relacionan claramente con el hipoestrogenismo y otras dependen de la edad, condicionando un aumento de la ingesta y una disminución del gasto energético. Esta ganancia ponderal se asocia a consecuencias adversas para la salud, que se agravan por los cambios de distribución grasa que se observan durante la menopausia. El aumento de la grasa visceral facilita el desarrollo de insulinorresistencia y sus consecuencias clínicas como las alteraciones del metabolismo de los hidratos de carbono y la diabetes tipo 2, la hipertensión arterial y la dislipemia con el consiguiente aumento de riesgo cardiovascular, entre otras complicaciones (AU)
Menopause is one of the critical periods of a woman's life during which weight gain and onset or worsening of obesity are favoured. It is at this period when obesity prevalence is the highest. There are several causes for this disorder, ones clearly related with hypo-oestrogenism and others depend on age favouring increased food intake and decreased energy waste. This weight gain is related to adverse health effects that get worse due to changes in fat distribution observed during menopause. The increase in visceral fat favours the development of insulin resistance and its clinical consequences such as carbohydrate metabolism impairments and type 2 diabetes, arterial hypertension, and dyslipidaemia, leading to increased cardiovascular risk, among other complications (AU)
Subject(s)
Female , Humans , Menopause/physiology , Obesity/physiopathology , Obesity/etiology , Obesity/therapy , Risk FactorsSubject(s)
Humans , Male , Female , Diabetes Mellitus/diagnosis , Diabetes Mellitus/surgery , /methods , /trends , Algorithms , Hyperglycemia/complications , Hyperglycemia/diagnosis , Dehydration/complications , Dehydration/diagnosis , Dehydration/therapy , Insulin/therapeutic use , Hypoglycemic Agents/metabolism , Hypoglycemic Agents/therapeutic use , /methods , /trendsABSTRACT
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