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pathophysiology of heart disease pdf
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Muscular Dystrophy Shower ª NE is more frequent in muscular dystrophies
It is a hereditary genetic disease in the most cases. Apart from rare exceptions, only men are affected in Duchenne muscular dystrophy. The mothers are carriers of abnormal chromosome X You can transmit genetic defects their children: If you have a child, which is theoretically possible to have both diseases. If a girl is a possibility of being a carrier of 2. Children with Duchenne muscular dystrophy have a near absence of dystrophin, a protein essential for muscle who would be responsible for maintaining muscle cell structure. You can prevent the onset of the disease when it occurs in a family where there no known cases of this disease through genetic counseling and prenatal diagnosis. In other cases, you can not avoid.
Clinique
DMD affects 1 in 3000 to 4000 newborns. It presents clinically between 2 and 6 years with twins pseudohypertrophy muscles, weakness in limbs and muscles pelvic girdle, which progresses to the shoulder girdle and upper muscle disorders are symmetrical.
Early signs may include difficulty climbing stairs or rising from the earth. Patients are confined to a wheel chair at age 15 years and died around 20 years of respiratory infections or heart failure.
DMD is a disease of skeletal muscle fiber physiological changes that involve the heart, diaphragm and the system nervous. Therefore, it is necessary to study the anomalies of the complex of dystrophin-glycoprotein in the heart and brain.
The Laboratory data and firm
The values of serum creatinine phosphokinase are very high among those involved in the preclinical stage, as the disease progresses, it tends to decrease. Note that the protective layer anti bilipÃdicas – KPC, the protoplasm in the normal muscle, and the absence of dystrophin in muscles during contraction of the DMD, there is no damage to the lipid layer.
EMG is seen in the decline of motor average unit and increased polyphasic forms that reflect the loss of muscle fiber.
Molecular aspects
Isolation gene is located on Xp21. Contains more than 2 million nucleotides and 79 exons. Most gene mutations of DMD / BMD deletions are Intrag Nicas ©: 30% located in the proximal 5 'exons 2 to 20 and 70% in the distal region of exons 44 to 53. This area suggests that certain characteristics predispose DND breaks or recombination.
In 5% of cases there is duplication and 30% did not detect deletions or duplications and molecular Zion is unknown.
Normally, dystrophin is expressed in skeletal muscle: heart muscle, and visceral and vascular smooth brain, nervous system, neurons that are predominantly expressed.
The severe phenotype of DMD caused by deletion or duplication is a truncated protein or nonfunctional. They described two models possible pathogenicity DMD: The first suggests that the complex forms a structural bridge between the external basal lamina and internal cytoskeleton, and when it there is a lack of dystrophin in the membrane that causes muscle is sensitive plasmalemales during contractile activity, the other notes in the model organization cytoskeleton membrane dystrophin and its role in the aggregation of ion channels and neurotransmitter receptors.
In the study muscle fibers and muscle biopsy, no immunohistochemistry. In this process, antibodies are used antidistrofina or cons of the components complex called DGC (dystrophin-glycoprotein complex), to assess the quantity and quality of dystrophin and / or associated glycoproteins. Complete absence of dystrophin or figures of less than 3% of the phenotypic characteristics of Duchenne muscular dystrophy severe.
Treatment as is currently supported only measures: physical, psychomotor, occupational therapy and control of complications.
Treatments are being tested to try to cure muscular dystrophy. Although not cease to be experimental, preliminary data indicate that in the future might be possible to cure this disease.
References
Distrofia_muscular_de_Duchenne Accessed 29 April 2009
Muscular Dystrophy Foundation Favaloro Available: _IN_distrofia_muscular.pdf http://www.fundacionfavaloro.org/educa Accessed April 29, 2009
Guizar-Vázquez, Jesús a. Clinical Genetics. Editorial Manual Moderno. Mexico City, 2005
About the Author
Student: School of Medicine Ignacio Santos. Committee member of medical research. Member of the EMC Updates medicas JOURNAL CLUB. Member and Supervisor of medical items since 2007. Member of The Neurology Service On-Line Journal Club. Contributor Renal Pathology MCQs
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