2.review biochem
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REVIEW OF MUSCULOSKELETAL SYTEM
Biochemistry of Bone Cartilage & Muscle
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Standar Kompetensi DokterPermasalahan / Keluhan: Nyeri sendi Sakit punggung Nyeri Pinggang Nyeri otot Bengkak Sendi (Kaku,bengkak, kelainan bentuk Gerakan terbatas Patah tulang, dll
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Standar kompetensi DokterDAFTAR PENYAKIT : Duchene muscular Dystrophy 1 Arthritis 4 Marfan Syndrom 1 Osteogenesis imperfecta 1 Achondroplasia 1 Rheumatoid Arthritis 2 Osteoporosis 3A Rikets, Osteomalacia 1 Gout 3 A ,dll
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ACHONDROPLASIA
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DUCHENNE MUSCULAR DYSTROPHY
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Duchenne Muscular Dystrophy A severe recessive X-linked
Rapid progression of muscle degeneration Eventually loss of ambulation death Prevalent is one in 4000 males In general male. Carriers female Female if father & mather affected Mutation in the dystrophin gene Xp 21 codes for the protein dystrophin
structure stability to dystroglycan complex (DGC) located on the cell membrane
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Duchenne Muscular Dystrophy Symptoms:
Appear in male, before age 5 Progressive proximal muscle weakness of the
legs & pelvis loss of muscle mass first Early sign s pseudohypertrophy, low
undurance Last : muscle tissue wasting fibrosis By age 10 aid in walking wheelchair by age
12 Late symptoms: skeletal deformities,
intelectual impairment Surviving teens to mild 20s, rare age 40 th
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MARFAN SYNDROME Genetic disorder off connectic tissue
(fibrilin-1) Unussually tall with long limbs & long
thin finger Dominant gen FBN1 Defects on the heart valve & aorta,
lung,eyes,spinal.skeleton & hard palate Indicate 1/ 3000 -5000,1/20.000 birth Long limbs, dislocated lenses, aortic
root dilation,arachnodactily
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Myasthenia Gravis An autoimmune neuromuscular disease Fluctuating muscle weakness &
fatiguability Weakness is caused by circulating antibody
block Ach reseptor at post synaptiv NMJ Inhibiting the stimulate effect of the NT Ach Incidence 3- 30 cases / million R/ cholinesterase inhibitors or
immunosuppressants But not response to Cong.myasthenic synd.
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Myasthenia Gravis
Sign & Symptoms
Muscle become progressively weakness during activity & improve after periods of rest
Eye &eyelid movement, facial expressions, chewing, talking & swallowing
The onset sudden, Often symtoms are intermittent
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OSTEOGENESIS IMPERFECTA
Called = Brittle bone disease substaining multiple broken bones in child
Causes a defect in the production of collagen type I
Type I collagen is found in bone, sclera, ligament & teeth
It’s a dominant mutation Is due a genetic mutation in the gene to
produce Collagen
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OSTEOGENESIS IMPERFECTA
Signs & Symptoms Bone fragility, scoliosis Tooth defect, loose ligaments Bluish sclera, hearing deficits Dll
R/: Biphosphanates & Ca suplements R/ genetic & Growth Hormon
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Regulation of Calcium Homeostasis
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COMPARISON OF TWO TYPES OF DENSE CONNECTIVE TISSUE � BONE & CARTILAGE
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Characteristics Cartilage Bone
Mechanical properties
Rigid but flexible Hard and strong
Cell type Chondrocytes Osteocytes
Composition of Matrix
Chondroitin sulfate
Hydroxyapatite
Vascularization Avascular Vascular
Innervation No Yes
Covering Perichondrium Periosteum
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1.Yang berfungsi menurunkan absorpsi kalsium di usus halus adalah:a. Kalsitonin c. Kalsitriolb.Vit D d. PTH e.ADH2.Komponen utama tulang terdiri atas :a.Kolagen tipe I dan Ca Hidroksiapatit b Kolagen tipe I dan Ca Hidroksiapatitc.Kolagen tipe III dan Ca Hidroksiapatitd.Kolagen tipe IV dan Ca Hidroksiapatite.kolafen tipe II dan Proteoglikan3.Tempat simpanan dinamis Kalsium di tubuh kita adalah :a. Otak c. Otot e.Tulang b, Hati e. Usus halus
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TERIMA KASIH