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1.
Rev. clín. esp. (Ed. impr.) ; 223(8): 499-509, oct. 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-225876

RESUMO

La insuficiencia cardiaca aguda (ICA) está asociada a una importante morbimortalidad, constituyendo la primera causa de hospitalización en mayores de 65 años en nuestro país. Las principales recomendaciones recogidas son: 1) al ingreso, se recomienda realizar una evaluación integral, considerando el tratamiento habitual y comorbilidades, ya que condicionan el pronóstico; 2) en las primeras horas de atención hospitalaria, el tratamiento descongestivo es prioritario, y se recomienda un abordaje terapéutico diurético precoz y escalonado en función de la respuesta; 3) durante la fase estable, se recomienda considerar el inicio y/o titulación del tratamiento con fármacos basados en la evidencia, es decir, sacubitrilo/valsartán o inhibidores de la enzima convertidora de angiotensina/antagonistas de los receptores de angiotensina II, betabloqueantes, antialdosterónicos e inhibidores SGLT2, y 4) en el momento del alta hospitalaria, es recomendable utilizar un listado —tipo check-list— para optimizar el manejo del paciente hospitalizado e identificar las opciones más eficientes para mantener la continuidad de cuidados tras el alta (AU)


Acute heart failure (AHF) is associated with significant morbidity and mortality and it stands as the primary cause of hospitalization for individuals over the age of 65 in Spain. This document outlines the main recommendations as follows: (1) upon admission, it is crucial to conduct a comprehensive assessment, taking into account the patient's standard treatment and comorbidities, as these factors determine the prognosis of the disease; (2) During the initial hours of hospital care, prioritizing decongestive treatment is essential. It is recommended to adopt an early staged diuretic therapeutic approach based on the patient's response; (3) In order to manage patients in the stable phase, it is advisable to consider initiating and/or adjusting evidence-based drug treatments such as sacubitril/valsartan or angiotensin-converting enzyme inhibitors/angiotensin II receptor blockers, beta blockers, aldosterone antagonists, and SGLT2 inhibitors; (4) Upon hospital discharge, utilizing a checklist is recommended to optimize the patient's management and identify the most efficient options for ensuring continuity of care post-discharge (AU)


Assuntos
Humanos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/terapia , Hospitalização , Doença Aguda , Consenso
2.
Rev Clin Esp (Barc) ; 223(8): 499-509, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37507048

RESUMO

Acute heart failure (AHF) is associated with significant morbidity and mortality and it stands as the primary cause of hospitalization for individuals over the age of 65 in Spain. This document outlines the main recommendations as follows: (1) Upon admission, it is crucial to conduct a comprehensive assessment, taking into account the patient's standard treatment and comorbidities, as these factors determine the prognosis of the disease. (2) During the initial hours of hospital care, prioritizing decongestive treatment is essential. It is recommended to adopt an early staged diuretic therapeutic approach based on the patient's response. (3) In order to manage patients in the stable phase, it is advisable to consider initiating and/or adjusting evidence-based drug treatments such as sacubitril/valsartan or angiotensin-converting enzyme inhibitors/angiotensin II receptor blockers, beta blockers, aldosterone antagonists, and SGLT2 inhibitors. (4) Upon hospital discharge, utilizing a checklist is recommended to optimize the patient's management and identify the most efficient options for ensuring continuity of care post-discharge.


Assuntos
Assistência ao Convalescente , Insuficiência Cardíaca , Humanos , Consenso , Tetrazóis/farmacologia , Tetrazóis/uso terapêutico , Alta do Paciente , Insuficiência Cardíaca/tratamento farmacológico , Antagonistas de Receptores de Angiotensina/farmacologia , Antagonistas de Receptores de Angiotensina/uso terapêutico , Hospitalização , Hospitais , Resultado do Tratamento
3.
Rev. clín. esp. (Ed. impr.) ; 223(3): 134-143, mar. 2023.
Artigo em Espanhol | IBECS | ID: ibc-217177

RESUMO

Objetivo El objetivo de este trabajo es evaluar el efecto de la semaglutida subcutánea sobre los biomarcadores de la enfermedad metabólica hepática (MAFLD), a saber, el índice de esteatosis hepática (HSI) y el índice de fibrosis-4 (FIB-4), a las 24semanas en pacientes ambulatorios atendidos en los servicios de Medicina Interna. Métodos En este estudio se analizaron pacientes de un registro de cohortes en curso, multicéntrico, prospectivo, pre-post y no controlado que inscribe a pacientes únicos y consecutivos con diabetes tipo2 tratados con semaglutida subcutánea. La esteatosis/fibrosis se determinó mediante HSI (<30 descartada, >36 esteatosis) y FIB-4 (<1,3 descartada, >2,67 fibrosis), respectivamente. Resultados La muestra incluyó 213 pacientes (46,9% mujeres) con una mediana de edad de 64 (±19) años. El índice de masa corporal y el peso basales medios fueron de 36,1 (±8,4) kg/m2 y 98 (±26,9) kg, respectivamente. El 99,9% presentaba valores de HSI indicativos de esteatosis, con un HSI medio de 47,9 (±8,2). Además, el 10,8% presentaba fibrosis (FIB-4 >2,67) y el 42,72% tenía valores en rangos intermedios (FIB-4 1,3-2,67). A las 24 semanas se produjo una reducción significativa del HSI (−2,36 [IC95%: 1,83-2,9], p<0,00001) y del FIB-4 (−0,075 [IC95%: 0,015-0,14], p<0,016), relacionada principalmente con descensos del peso corporal, de los niveles de triglicéridos, de la resistencia a la insulina (estimada mediante el índice triglicéridos-glucosa) y de las enzimas hepáticas. Conclusiones Estos resultados muestran que la semaglutida subcutánea tuvo un efecto beneficioso sobre la esteatosis hepática que fue más allá del control de la glucosa. Sus efectos estaban relacionados principalmente con la pérdida de peso, la disminución de los biomarcadores y la mejora de la sensibilidad a la insulina. Para muchos pacientes, la detección precoz es esencial para mejorar los resultados de la MAFLD y puede permitir seleccionar las opciones terapéuticas más eficaces (AU)


Aim This work aims to assess the effect of weekly subcutaneous semaglutide on biomarkers of metabolic-associated fatty liver disease (MAFLD), namely the hepatic steatosis index (HSI) and the fibrosis-4 (FIB-4) index, at 24weeks in outpatients attended to in internal medicine departments. Methods This study analyzed patients in an ongoing, multicenter, prospective, pre-post, uncontrolled cohort registry that enrolls unique, consecutive patients with type2 diabetes treated with weekly subcutaneous semaglutide. Steatosis/fibrosis were determined by HSI (<30 ruled out, >36 steatosis) and FIB-4 (<1.3 ruled out, >2.67 fibrosis), respectively. Results The sample included 213 patients (46.9% women) with a median age of 64 (±19) years. The median baseline body mass index and weight were 36.1 (±8.4) kg/m2 and 98 (±26.9) kg, respectively. A total of 99.9% had HSI values indicating steatosis, with a mean HSI of 47.9 (±8.2). Additionally, 10.8% had fibrosis (FIB-4 >2.67) and 42.72% had values in intermediate ranges (FIB-4 1.3-2.67). At 24weeks, there was a significant reduction in HSI (−2.36 (95%CI: 1.83-2.9), p<0.00001) and FIB-4 (−0.075 (95%CI: 0.015-0.14), p<0.016), mainly related to declines in body weight, triglyceride levels, insulin resistance (estimated by the triglyceride-glucose index), and liver enzymes. Conclusion These results show that weekly subcutaneous semaglutide had a beneficial effect on liver steatosis that went beyond glucose control. Its effects were mainly related to weight loss, a decline in biomarkers, and improvements in insulin sensitivity. For many patients, early detection is essential for improving MAFLD outcomes and may allow for selecting the most efficient treatment options (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 2/tratamento farmacológico , Resistência à Insulina , Hepatopatia Gordurosa não Alcoólica/complicações , Obesidade/complicações , Hipoglicemiantes/uso terapêutico , Estudos Prospectivos , Estudos de Coortes , Biomarcadores/sangue
4.
Rev Clin Esp (Barc) ; 221(2): 101-108, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33998485

RESUMO

Type 2 diabetes is a big health concern due to its high prevalence and morbi-mortality. Medical treatment has a growing complexity which is focus on patients' clinical situations. This article contains a consensus statement about recommendations on medical treatment of type-2 diabetes from the Working Group of Diabetes, Obesity and Nutrition of Spanish Society of Internal Medicine. The aim of this consensus is to facilitate therapeutic decision-making to improve the diabetes patients care. The document prioritizes treatments with cardiovascular, especially heart failure, and real benefits.


Assuntos
Diabetes Mellitus Tipo 2 , Insuficiência Cardíaca , Consenso , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Obesidade/epidemiologia
5.
Rev Clin Esp (Barc) ; 221(5): 283-296, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33998516

RESUMO

Acute heart failure (AHF) is a highly prevalent clinical entity in individuals older than 45 years in Spain. AHF is associated with significant morbidity and mortality and is the leading cause of hospitalisation for individuals older than 65 years in Spain, a quarter of whom die within 1 year of the hospitalisation. In recent years, there has been an upwards trend in hospitalisations for AHF, which increased 76.7% from 2003 to 2013. Readmissions at 30 days for AHF have also increased (from 17.6% to 22.1%), at a relative mean rate of 1.36% per year, with the consequent increase in the use of resources and the economic burden for the healthcare system. The aim of this document (developed by the Heart Failure and Atrial Fibrillation Group of the Spanish Society of Internal Medicine) is to guide specialists on the most important aspects of treatment and follow-up for patients with AHF during hospitalisation and the subsequent follow-up. The main recommendations listed in this document are as follows: 1) At admission, perform a comprehensive assessment, considering the patient's standard treatment and comorbidities, given that these determine the disease prognosis to a considerable measure. 2) During the first few hours of hospital care, decongestive treatment is a priority, and a staged diuretic therapeutic approach based on the patient's response is recommended. 3) To manage patients in the stable phase, consider starting and/or adjusting evidence-based drug treatment (e.g., sacubitril/valsartan or angiotensin-converting enzyme inhibitors/angiotensin II receptor blockers, beta blockers and aldosterone antagonists). 4) At hospital discharge, use a checklist to optimise the patient's management and identify the most efficient options for maintaining continuity of care after discharge.


Assuntos
Insuficiência Cardíaca , Doença Aguda , Aminobutiratos , Compostos de Bifenilo , Consenso , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/terapia , Hospitalização , Hospitais , Humanos
6.
Rev. clín. esp. (Ed. impr.) ; 221(5): 283-296, mayo 2021. tab
Artigo em Espanhol | IBECS | ID: ibc-226464

RESUMO

La insuficiencia cardiaca aguda (ICA) es una entidad clínica con una elevada prevalencia en la población de más de 45años en España. Está asociada a una importante morbimortalidad, constituyendo la primera causa de hospitalización en mayores de 65años en nuestro país, de los cuales una cuarta parte fallecen al año del ingreso. En los últimos años se ha observado una tendencia al alza en las hospitalizaciones por ICA, que aumentaron un 76,7% en el período de 2003 a 2013. Los reingresos a los 30días por ICA también aumentaron (del 17,6 al 22,1%) a un ritmo medio relativo del 1,36% por año, con el consiguiente incremento en el uso de recursos y en la carga económica para el sistema sanitario. Este documento, elaborado por el grupo de Insuficiencia Cardiaca y Fibrilación Auricular de la Sociedad Española de Medicina Interna, tiene como objetivo orientar al especialista en los aspectos más importantes del tratamiento y seguimiento de los pacientes con ICA durante el ingreso y el seguimiento posterior. Las principales recomendaciones recogidas son: 1)en el momento del ingreso, realizar una evaluación integral, considerando el tratamiento habitual y comorbilidades del paciente, ya que condicionan en gran medida el pronóstico de la enfermedad; 2)en las primeras horas de atención hospitalaria, el tratamiento descongestivo es prioritario y se recomienda un abordaje terapéutico diurético escalonado en función de la respuesta; 3)en el manejo de la fase estable, considerar el inicio y/o ajustar el tratamiento con fármacos basados en la evidencia, es decir, sacubitrilo/valsartán o IECA/ARAII, betabloqueantes y antialdosterónicos; 4)en el momento del alta hospitalaria, utilizar un checklist para optimizar el manejo del paciente hospitalizado e identificar las opciones más eficientes para mantener la continuidad de cuidados tras el alta (AU)


Acute heart failure (AHF) is a highly prevalent clinical entity in individuals older than 45years in Spain. AHF is associated with significant morbidity and mortality and is the leading cause of hospitalisation for individuals older than 65years in Spain, a quarter of whom die within 1year of the hospitalisation. In recent years, there has been an upwards trend in hospitalisations for AHF, which increased 76.7% from 2003 to 2013. Readmissions at 30days for AHF have also increased (from 17.6% to 22.1%), at a relative mean rate of 1.36% per year, with the consequent increase in the use of resources and the economic burden for the healthcare system. The aim of this document (developed by the Heart Failure and Atrial Fibrillation Group of the Spanish Society of Internal Medicine) is to guide specialists on the most important aspects of treatment and follow-up for patients with AHF during hospitalisation and the subsequent follow-up. The main recommendations listed in this document are as follows: (1)At admission, perform a comprehensive assessment, considering the patient's standard treatment and comorbidities, given that these determine the disease prognosis to a considerable measure. (2)During the first few hours of hospital care, decongestive treatment is a priority, and a staged diuretic therapeutic approach based on the patient's response is recommended. (3)To manage patients in the stable phase, consider starting and/or adjusting evidence-based drug treatment (e.g., sacubitril/valsartan or angiotensin-converting enzyme inhibitors/angiotensinII receptor blockers, beta blockers and aldosterone antagonists). (4)At hospital discharge, use a checklist to optimise the patient's management and identify the most efficient options for maintaining continuity of care after discharge (AU)


Assuntos
Humanos , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/terapia , Doença Aguda , Aminobutiratos , Compostos de Bifenilo , Hospitalização , Consenso
7.
Rev. clín. esp. (Ed. impr.) ; 221(2): 101-108, feb. 2021. ilus
Artigo em Espanhol | IBECS | ID: ibc-225687

RESUMO

La diabetes tipo 2 constituye un problema de salud de elevada prevalencia y morbimortalidad. El tratamiento médico tiene una complejidad creciente en relación con las diversas situaciones clínicas del paciente. Este artículo recoge un documento de consenso de las recomendaciones para el tratamiento médico de la diabetes tipo 2 del Grupo de Diabetes, Obesidad y Nutrición de la Sociedad Española de Medicina Interna. El objetivo principal de este artículo es facilitar la toma de decisiones terapéuticas para mejorar la atención de los pacientes con diabetes. El documento prioriza los tratamientos con beneficios cardiovasculares, especialmente la insuficiencia cardíaca, y renales (AU)


Type 2 diabetes mellitus is a major health problem with high prevalence, morbidity and mortality, and its medical treatment is growing in complexity due to patients’ diverse clinical conditions. This article presents a consensus document by the Diabetes, Obesity and Nutrition Group of the Spanish Society of Internal Medicine, with recommendations for the medical treatment of type 2 diabetes mellitus. The main objective of this article is to facilitate the therapeutic decision-making process to improve the care of patients with diabetes. The document prioritises treatments with cardiovascular benefits, especially those that benefit patients with heart and renal failure (AU)


Assuntos
Humanos , Diabetes Mellitus Tipo 2/terapia , Metformina/uso terapêutico , Hipoglicemiantes/uso terapêutico , Doenças Cardiovasculares , Sociedades Médicas , Fatores de Risco , Espanha
8.
Rev Clin Esp ; 2020 Jul 13.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32674850

RESUMO

Type 2 diabetes mellitus is a major health problem with high prevalence, morbidity and mortality, and its medical treatment is growing in complexity due to patients' diverse clinical conditions. This article presents a consensus document by the Diabetes, Obesity and Nutrition Group of the Spanish Society of Internal Medicine, with recommendations for the medical treatment of type 2 diabetes mellitus. The main objective of this article is to facilitate the therapeutic decision-making process to improve the care of patients with diabetes. The document prioritises treatments with cardiovascular benefits, especially those that benefit patients with heart and renal failure.

9.
Rev Clin Esp ; 2020 Mar 02.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32139076

RESUMO

Acute heart failure (AHF) is a highly prevalent clinical entity in individuals older than 45years in Spain. AHF is associated with significant morbidity and mortality and is the leading cause of hospitalisation for individuals older than 65years in Spain, a quarter of whom die within 1year of the hospitalisation. In recent years, there has been an upwards trend in hospitalisations for AHF, which increased 76.7% from 2003 to 2013. Readmissions at 30days for AHF have also increased (from 17.6% to 22.1%), at a relative mean rate of 1.36% per year, with the consequent increase in the use of resources and the economic burden for the healthcare system. The aim of this document (developed by the Heart Failure and Atrial Fibrillation Group of the Spanish Society of Internal Medicine) is to guide specialists on the most important aspects of treatment and follow-up for patients with AHF during hospitalisation and the subsequent follow-up. The main recommendations listed in this document are as follows: (1)At admission, perform a comprehensive assessment, considering the patient's standard treatment and comorbidities, given that these determine the disease prognosis to a considerable measure. (2)During the first few hours of hospital care, decongestive treatment is a priority, and a staged diuretic therapeutic approach based on the patient's response is recommended. (3)To manage patients in the stable phase, consider starting and/or adjusting evidence-based drug treatment (e.g., sacubitril/valsartan or angiotensin-converting enzyme inhibitors/angiotensinII receptor blockers, beta blockers and aldosterone antagonists). (4)At hospital discharge, use a checklist to optimise the patient's management and identify the most efficient options for maintaining continuity of care after discharge.

10.
Rev Clin Esp (Barc) ; 217(2): 71-78, 2017 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27939027

RESUMO

OBJECTIVES: To estimate the prevalence of obesity in patients treated by departments of Internal Medicine and to classify the patients according to the Edmonton Obesity Staging System (EOSS). MATERIAL AND METHODS: An observational, descriptive cross-sectional study included outpatients older than 18 years, with a body mass index (BMI)>30, from 38 hospitals between the 1st and 14th of February, 2016. We classified the patients according to the EOSS and analysed their clinical, laboratory and demographic variables. A value of P<.05 was considered statistically significant. RESULTS: Of the 1,262 patients treated in consultations, we recruited 298 and analysed 265. The prevalence of obesity was 23.6%, the mean age was 62.47±15.27 years, and the mean BMI was 36.1±5.3kg/m2. According to EOSS stage (0, 1, 2, 3 and 4), the prevalence was 4.9, 14.7, 62.3, 15.5 and 2.64%, respectively. Those patients with EOSS>2 were significantly older and had significantly more comorbidities. The multivariate analysis related age (OR 1.06; P<.0003), blood glucose (OR 1.04; P<.0006), total cholesterol (OR 0.98; P<.02) and uric acid (OR 1.32; P<.02) levels with an EOSS>2. An analysis of correspondence grouped, with an explanatory percentage of 78.2%, the patients according to their EOSS, comorbidity, education level, employment status and functional capacity. CONCLUSIONS: The prevalence of obesity in the patients treated by Internal Medicine departments is similar to that of the general population, although the patients are older and have a higher BMI. EOSS is useful for implementing a comprehensive approach for patients with obesity, regardless of the BMI, which can help achieve better health and quality-of-life results.

11.
Scand J Med Sci Sports ; 24(1): e52-61, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23826633

RESUMO

To analyze the effects of an intervention focused on increasing the time and intensity of Physical Education (PE), on adolescents' cognitive performance and academic achievement. A 4-month group-randomized controlled trial was conducted in 67 adolescents from South-East Spain, 2007. Three classes were randomly allocated into control group (CG), experimental group 1 (EG1) and experimental group 2 (EG2). CG received usual PE (two sessions/week), EG1 received four PE sessions/week and EG2 received four PE sessions/week of high intensity. Cognitive performance (non-verbal and verbal ability, abstract reasoning, spatial ability, verbal reasoning and numerical ability) was assessed by the Spanish Overall and Factorial Intelligence Test, and academic achievement by school grades. All the cognitive performance variables, except verbal reasoning, increased more in EG2 than in CG (all P < 0.05). Average school grades (e.g., mathematics) increased more in EG2 than in CG. Overall, EG2 improved more than EG1, without differences between EG1 and CG. Increased PE can benefit cognitive performance and academic achievement. This study contributes to the current knowledge by suggesting that the intensity of PE sessions might play a role in the positive effect of physical activity on cognition and academic success. Future studies involving larger sample sizes should confirm or contrast these preliminary findings.


Assuntos
Logro , Cognição/fisiologia , Atividade Motora/fisiologia , Educação Física e Treinamento/métodos , Adolescente , Criança , Feminino , Humanos , Masculino , Instituições Acadêmicas , Espanha
14.
Rev Neurol ; 26(154): 905-11, 1998 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-9658457

RESUMO

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.


Assuntos
Cromossomos Humanos Par 13/genética , Proteínas do Citoesqueleto/deficiência , Glicoproteínas de Membrana/deficiência , Distrofias Musculares/genética , Mutação Puntual , Adolescente , Adulto , Biópsia , Criança , Pré-Escolar , Consanguinidade , Proteínas do Citoesqueleto/genética , Proteínas do Citoesqueleto/metabolismo , Distrofina/análise , Eletromiografia , Feminino , Genes Recessivos , Genótipo , Humanos , Masculino , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Músculo Esquelético/química , Músculo Esquelético/patologia , Distrofias Musculares/etnologia , Distrofias Musculares/metabolismo , Distrofias Musculares/patologia , Linhagem , Fenótipo , Roma (Grupo Étnico)/genética , Sarcoglicanas , Escoliose/etnologia , Escoliose/genética
15.
Rev Neurol ; 26(154): 1021-6, 1998 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-9658487

RESUMO

OBJECTIVES: To review the up-dated classification of limb girdle muscular dystrophies (LGMDs) in relation to the defective protein and the genetic abnormality. To explain how these proteins are related to dystrophin and to the proteins of the extracellular matrix. To show that an accurate diagnosis is necessary and that it can be adequately made in neuromuscular pathology laboratories. DEVELOPMENT: We present a study of the different types of LGMDs, dystrophinopathies and congenital muscular dystrophy. We emphasize the recent events which concluded in the identification of these disorders, the genetic alteration, the defective proteins and, briefly, the clinical features. CONCLUSIONS: The recent identification of numerous skeletal muscle proteins and of the codifying genes made possible a new classification of a large group of muscular dystrophies. The possibility to study these proteins on the muscle biopsy with immunohistochemistry and Western blot techniques indicates the need of an accurate diagnosis in specialized neuromuscular laboratories. Since there is a great number of genes discovered and of mutations within the same gene, and the clinical picture of different diseases can be similar, a previous study of the protein is advisable as a guide for a further genetic study.


Assuntos
Distrofina/deficiência , Distrofias Musculares/classificação , Calpaína/deficiência , Calpaína/genética , Pré-Escolar , Mapeamento Cromossômico , Cromossomos Humanos/genética , Proteínas do Citoesqueleto/deficiência , Proteínas do Citoesqueleto/genética , Distroglicanas , Distrofina/genética , Feminino , Humanos , Lactente , Recém-Nascido , Laminina/deficiência , Laminina/genética , Substâncias Macromoleculares , Masculino , Glicoproteínas de Membrana/deficiência , Glicoproteínas de Membrana/genética , Proteínas Musculares/deficiência , Proteínas Musculares/genética , Distrofias Musculares/congênito , Distrofias Musculares/genética , Sarcoglicanas
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