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4.821  Articles
1 of 483 pages  |  10  records  |  more records»
Skull fractures are rare in newborns and normally caused by maternal abdominal trauma or complicated deliveries. However, in rare cases, these fractures are found in neonates born after an uneventful pregnancy and delivery. We report a case of a prim... see more

Distrofia muscular de Duchenne. A propósito de un caso / Duchenne Muscular Dystrophy. About a case Distrofia muscular de Duchenne. A propósito de un caso / Duchenne Muscular Dystrophy. About a case Las Distrofias Musculares Progresivas comprometen de forma grave e irreversible la musculatura esquelética del organismo humano, dentro de ellas la más frecuente es la Distrofia Muscular de Duchenne, trastorno genético ligado al cromosoma X, que afecta a los niños, principalmente, masculinos. Se describe el caso de un niño, con antecedentes patológicos familiares y cuadro clínico de Distrofia Muscular de Duchenne, que la familia desconocía el carácter hereditario de la misma. Se realizó la extracción de ADN a partir de la saliva, cuyo estudio molecular confirmó el diagnóstico de este trastorno. En las distrofinopatías es importante realizar el diagnóstico precoz para poder prevenir el avance y complicaciones de la enfermedad, brindando a la familia el asesoramiento para el cuidado del paciente, así como la posibilidad de estudio y el consejo genético que les permita una adecuada planificación familiar. Palabras clave: Distrofia Muscular Congénita; Distrofía Muscular Duchenne.ABSTRACT  The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dysfunction to the chromosome X that affects mainly masculine children.  The case of a boy is described, with family pathological antecedents and clinical square of Muscular Distrofia of Duchenne that the family ignored the hereditary character of the same one. He was carried out the extracciòn of DNA starting from the saliva whose molecular study confirmed the diagnosis of DMD.  In the distrofinopatías it is important to carry out the precocious diagnosis for r to prevent the advance and complications of the illness, offering to the family the advice for the patient’s care, as well as the study possibility and genetic advice that it allows them an appropriate family planning.Keywords: Congenital Muscular Dystrophy, Duchenne Muscular, Dystrophy.

ABSTRACT  The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dy... see more

Congenital bladder diverticula (CBD) are an outpouching of the mucosa through the muscular wall of the bladder. Large CBD may be presented with a serious urological problem in childhood. A 6-year-old boy was admitted with the complaint of recurrent urinar... see more

Distrofia muscular de Duchenne. A propósito de un caso / Duchenne Muscular Dystrophy. About a case Distrofia muscular de Duchenne. A propósito de un caso / Duchenne Muscular Dystrophy. About a case Las Distrofias Musculares Progresivas comprometen de forma grave e irreversible la musculatura esquelética del organismo humano, dentro de ellas la más frecuente es la Distrofia Muscular de Duchenne, trastorno genético ligado al cromosoma X, que afecta a los niños, principalmente, masculinos. Se describe el caso de un niño, con antecedentes patológicos familiares y cuadro clínico de Distrofia Muscular de Duchenne, que la familia desconocía el carácter hereditario de la misma. Se realizó la extracción de ADN a partir de la saliva, cuyo estudio molecular confirmó el diagnóstico de este trastorno. En las distrofinopatías es importante realizar el diagnóstico precoz para poder prevenir el avance y complicaciones de la enfermedad, brindando a la familia el asesoramiento para el cuidado del paciente, así como la posibilidad de estudio y el consejo genético que les permita una adecuada planificación familiar. Palabras clave: Distrofia Muscular Congénita; Distrofía Muscular Duchenne.ABSTRACT  The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dysfunction to the chromosome X that affects mainly masculine children.  The case of a boy is described, with family pathological antecedents and clinical square of Muscular Distrofia of Duchenne that the family ignored the hereditary character of the same one. He was carried out the extracciòn of DNA starting from the saliva whose molecular study confirmed the diagnosis of DMD.  In the distrofinopatías it is important to carry out the precocious diagnosis for r to prevent the advance and complications of the illness, offering to the family the advice for the patient’s care, as well as the study possibility and genetic advice that it allows them an appropriate family planning.Keywords: Congenital Muscular Dystrophy, Duchenne Muscular, Dystrophy.

ABSTRACT  The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dy... see more

In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD). GD is a glycolipid storage disease leading to widely variable phenotypes such as hydrops fetalis, conge... see more

Ventricular septal defect (VSD) is a congenital heart disease (CHD) which characterized bya hole in the wall that separate between the right and left ventricle. There are several typesof VSD based on its location, which are perimembranous/conoventricular,... see more

Congenital generalized lipodystrophies are a heterogeneous group of rare disorders characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism, and mental retardation. We re... see more

Background: We present an alternative treatment employing a hybrid approach used in 3 patients with congenital heart disease. The goal was to provide optimal therapy by minimizing the potentially harmful effects of methods that accompany conventional surg... see more

1 of 483 pages  |  10  records  |  more records»