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1.
Malays J Pathol ; 44(3): 523-526, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36591720

RESUMEN

Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other inborn errors of metabolism are common causes of Sudden Unexpected Deaths in Infancy (SUDI). If identified early or before metabolic decompensation, MCADD is manageable. In the US and other countries, identification of MCADD has improved through the routine use of newborn screening (NBS), which is able to identify most cases. This case study presented here occurred before NBS was implemented in Ohio for MCADD and outlines the typical clinical presentation, pathological features, and relevant biochemical and molecular markers for identifying MCADD. Genetic counselling should be sought for the family if MCADD is identified.


Asunto(s)
Errores Innatos del Metabolismo Lipídico , Recién Nacido , Lactante , Humanos , Acil-CoA Deshidrogenasa/genética , Errores Innatos del Metabolismo Lipídico/diagnóstico , Errores Innatos del Metabolismo Lipídico/genética , Tamizaje Neonatal , Biomarcadores
2.
Hum Exp Toxicol ; 39(6): 773-784, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31971021

RESUMEN

INTRODUCTION: Nerium oleander is a plant that is frequently grown in gardens and public areas. N. oleander is distributed originally in subtropical Asia but is now growing in many parts of the world, such as the United States, Australia, China, and Middle East countries. Pharmacological effects of plant including antinociceptive, anti-inflammatory, and anticancer activity were reported, but the potential toxic effects of all parts of the shrub either fresh or dried on animal and human body were documented. METHOD: The data of this review article were obtained from Medline/Pubmed, Scopusand Google Scholar databases in English until September 2019. To include all publications in this field, keywords such as N. oleander and toxicity were used. RESULTS: The poisoning effects of plant or their active alkaloids induced infiltration of cells with hemorrhage and sever negative changes in the lung, induce lesions, and infiltration of inflammatory cells into the portal spaces with scattered necrosis of hepatocytes in the liver, cardiac toxicity of the plant in the heart were included, induced varying degrees of hemorrhage, myocardial degeneration, and necrosis. It also induced arrhythmia, sinus bradycardia, and prolonged P-R interval in electrocardiographic records. CONCLUSIONS: The toxic effects of N. oleander are mostly related to its inhibitory effects on the Na+-K+ ATPase pump in the cellular membrane. However, the exact molecular mechanism involved in the toxicity of N. oleander is not clear.


Asunto(s)
Nerium , Extractos Vegetales/toxicidad , Animales , Corazón/efectos de los fármacos , Humanos , Hígado/efectos de los fármacos , Pulmón/efectos de los fármacos
3.
Ann Hematol ; 98(6): 1323-1331, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30729283

RESUMEN

Despite the major improvement in therapeutic management of thalassemia major, iron overload is considered a challenging conundrum in these patients and heart disease still remains a major cause of morbidity and mortality in these patients. Therefore, this study aimed to investigate the prevalence of cardiac iron overload and cardiovascular complications in transfusion-dependent thalassemia patients in the worldwide. The following databases were searched: ISI/Web of Science, Embase, PubMed, Scopus, up to February 30, 2018. The quality of the studies was evaluated using the Joanna Briggs Institute Prevalence Critical Appraisal Tool. The random model based on Metaprop was used. One hundred forty-two studies were included. The total number of patients included was 26,893. The mean age of patients was 22.6 (SD = 1.7) years. Based on Metaprop, the overall prevalence of cardiac iron overload/myocardial sidoresis (T2* < 20 ms) and cardiac complications in thalassemia major patients in the worldwide was 25% (95% CI 22-28%) and 42% (95% CI 37-46%), respectively. The results of this study show that the prevalence of cardiac iron overload and cardiovascular complications in patients with thalassemia major is almost high. Therefore, iron chelation and careful monitoring of serum ferritin level will prevent the cardiac iron overload, and interval monitoring of patients with transfusion-dependent thalassemia (TDT) by echocardiography and electrocardiography will help with early detection of cardiovascular complications.


Asunto(s)
Enfermedades Cardiovasculares/etiología , Sobrecarga de Hierro/etiología , Talasemia beta/complicaciones , Adolescente , Adulto , Transfusión Sanguínea , Cardiomiopatías/etiología , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/epidemiología , Femenino , Hemosiderosis/diagnóstico por imagen , Hemosiderosis/etiología , Humanos , Hierro/metabolismo , Sobrecarga de Hierro/diagnóstico por imagen , Sobrecarga de Hierro/epidemiología , Espectroscopía de Resonancia Magnética , Masculino , Prevalencia , Adulto Joven , Talasemia beta/terapia
4.
Biomed Pharmacother ; 81: 305-317, 2016 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27261608

RESUMEN

Breast cancer is the most common type of cancer in women whose prevalence is increasing every year. Common strategies for diagnosis, prognosis and specific treatment of breast cancer need improvements to increase patients' survival. For this reason, there is growing number of efforts world-wide with molecular approaches. With the advent of microRNAs (miRNAs), they have been interested for almost all aspects of tumorgenesis and correlation of breast cancer and microRNAs was discovered for the first time in 2005. MiRNAs form a group of small noncoding RNAs which participate in regulation of gene expression and subsequently several biological processes and pathogenesis of various diseases. As other cancers, miRNAs involved in breast cancer are classified in two groups: the first group is tumor inducing miRNAs (also called oncomirs) that can induce tumor initiation and progression, and their expression is increased in cancerous cells. The second group is tumor suppressor miRNAs. In normal situation, tumor suppressor miRNAs prevent beginning and progression of breast cancer through suppressing the expression of various oncogenes. In this review we will give a general overview about miRNAs and breast cancer, and in the following, more discussion about tumor suppressor miRNAs, with focus on the best known of them and their targeted oncogenes and signaling pathways. Finally, we will point to application of this group of miRNAs in diagnosis, prognosis and treatment of patients.


Asunto(s)
Neoplasias de la Mama/genética , Neoplasias de la Mama/terapia , Genes Supresores de Tumor , MicroARNs/metabolismo , Terapia Molecular Dirigida , Transducción de Señal , Biomarcadores de Tumor/metabolismo , Femenino , Humanos
5.
Biol Sport ; 30(3): 207-11, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24744490

RESUMEN

Exercise plays an important role to improve cardiovascular performance. The aim of this study was to compare the effect of aerobic continuous and interval training on the left ventricular structure and function. Twenty untrained healthy male students (aged 18-22 years) were randomly divided into two groups: continuous (C; n = 10) and interval (I; n = 10). The training programme consisted of countryside jogging for 45 min during 8 weeks three times a week at 70% of maximum heart rate (MHR). In each session group C was jogging for 45 min and in group I jogging was performed in 5 nine-minute stages with a four-minute inactive rest between them. M-mode, 2-dimensional, colour and Doppler transthoracic echocardiography were performed, during resting conditions, before and after the training period. After 8-week training the end diastolic diameter, systolic blood pressure and diastolic blood pressure in groups C and I, and the posterior wall thickness and the end systolic diameter in group I showed no significant difference (P > 0.05). On the other hand, the percentage of ejection fraction and shortening fraction in groups C and I, the end systolic diameter and the posterior wall thickness in group C and the interventricular septum thickness in group I demonstrated a significant difference (P ≤ 0.05). Comparing the two groups, only the value of the interventricular septum thickness was significant (P ≤ 0.05). In general, eight-week aerobic continuous and interval training can affect left ventricular structure and function.

6.
West Indian Med J ; 61(3): 230-4, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23155978

RESUMEN

OBJECTIVE: The aim of this study is to evaluate the relationship between cataract development and serum lipids, glucose as well as antioxidants in a case-control study. METHODS: Ninety patients with cataract and 90 age- and sex-matched healthy controls were investigated. Lipid profiles including triglyceride (Tg), total serum cholesterol (Chol) and cholesterol content in high-density lipoproteins (HDL chol) and low-density lipoproteins (LDL chol) as well as fasting glucose (FBS) were measured for all subjects. Plasma oxidative stress as thiobarbituric acid-reactive substances (TBARS) and the status of antioxidants were studied as ferric reducing/antioxidant power (FRAP) and thiol substance assay. RESULTS: A higher prevalence of abnormal FBS (8.9 vs. 1.1%), Tg (26.7 vs. 8.9%) and Chol (54.4 vs. 30%) was found in cataract patients than the control group (p < 0.05). Plasma Tg (p = 0.02), Chol (p = 0.001) and LDL chol (p = 0.04) were significantly higher in the cataract group than in the control group. Likewise TBARS (p = 0.05) as the level of oxidative stress was significantly higher in the case group, and FRAP (p = 0.03) and thiol (p = 0.02) assays as the antioxidant activity was significantly lower among cataract patients. CONCLUSION: This study has shown that hypercholesterolaemia, hypertriglyceridaemia, high LDL chol and high FBS are associated with cataract. Also lower plasma antioxidant levels and higher levels of oxidative stress were seen in cataract patients than healthy controls. These findings indicate a need for health promotional activities aimed at controlling these preventable factors among high risk populations.


Asunto(s)
Antioxidantes/metabolismo , Glucemia/análisis , Catarata/sangre , Lípidos/sangre , Estrés Oxidativo , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sustancias Reactivas al Ácido Tiobarbitúrico/metabolismo
7.
West Indian med. j ; 61(3): 230-234, June 2012. tab
Artículo en Inglés | LILACS | ID: lil-672891

RESUMEN

OBJECTIVE: The aim of this study is to evaluate the relationship between cataract development and serum lipids, glucose as well as antioxidants in a case-control study. METHODS: Ninety patients with cataract and 90 age- and sex-matched healthy controls were investigated. Lipid profiles including triglyceride (Tg), total serum cholesterol (Chol) and cholesterol content in high-density lipoproteins (HDL chol) and low-density lipoproteins (LDL chol) as well as fasting glucose (FBS) were measured for all subjects. Plasma oxidative stress as thiobarbituric acid-reactive substances (TBARS) and the status of antioxidants were studied as ferric reducing/antioxidant power (FRAP) and thiol substance assay. RESULTS: A higher prevalence of abnormal FBS (8.9 vs 1.1%), Tg (26.7 vs 8.9%) and Chol (54.4 vs 30%) was found in cataract patients than the control group (p <0.05). Plasma Tg (p = 0.02), Chol (p = 0.001) and LDL chol (p = 0.04) were significantly higher in the cataract group than in the control group. Likewise TBARS (p = 0.05) as the level of oxidative stress was significantly higher in the case group, and FRAP (p = 0.03) and thiol (p = 0.02) assays as the antioxidant activity was significantly lower among cataract patients. CONCLUSION: This study has shown that hypercholesterolaemia, hypertriglyceridaemia, high LDL chol and high FBS are associated with cataract. Also lower plasma antioxidant levels and higher levels of oxidative stress were seen in cataract patients than healthy controls. These findings indicate a need for health promotional activities aimed at controlling these preventable factors among high risk populations.


OBJETIVO: El objetivo de este estudio es evaluar la relación entre el desarrollo de la catarata y los lípidos séricos, la glucosa, así como los antioxidantes, en un estudio de caso-control. MÉTODOS: Se investigaron noventa pacientes y noventa controles sanos, pareados por edady sexo. Los perfiles lípidos, incluyendo los triglicéridos (Tg), el colesterol sérico total (Chol) y el contenido de colesterol en lipoproteínas de alta densidad (HDL chol) y lipoproteínas de baja densidad (LDL chol) fueron medidos en todos los sujetos, así como la glucosa en ayunas (FBS). Se estudió el estrés oxidativo en plasma como sustancias reactivas al ácido tiobarbitúrico (TBARS) y el estado de los antioxidantes comopoder reductor férrico/antioxidante (FRAP) y ensayo de tiol. RESULTADOS: Se encontró unaprevalencia mayor de FBS anormal (8.9 vs. 1.1%), Tg (26.7 vs 8.9%) y Chol (54.4 vs 30%) en los pacientes con catarata, en comparación con el grupo control (p <0.05). El Tg en plasma (p = 0.02), Chol (p = 0.001) y LDL chol (p = 0.04) fueron significativamente más altos en el grupo con catarata que en el grupo control. Igualmente TBARS (p = 0.05) como nivel de estrés oxidativo fue significativamente más alto en el grupo de caso, y FRAP (p = 0.03) y el ensayo de tiol (p = 0.02) como actividad antioxidante fue significativamente más baja entre los pacientes con catarata. CONCLUSIÓN: Este estudio mostró que la hipercolesterolemia, la hipertrigliceridemia, el colesterol LDL alto, y el FBS alto se hallan asociados con la catarata. También se observaron niveles más bajos de antioxidante plasmático y niveles más altos de estrés oxidativo en los pacientes con cataratas frente a los controles saludables. Estos hallazgos indican una necesidad de actividades de promoción de la salud afin de controlar estos factores prevenibles entre la población de alto riesgo.


Asunto(s)
Femenino , Humanos , Masculino , Persona de Mediana Edad , Antioxidantes/metabolismo , Glucemia/análisis , Catarata/sangre , Lípidos/sangre , Estrés Oxidativo , Estudios de Casos y Controles , Sustancias Reactivas al Ácido Tiobarbitúrico/metabolismo
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