PEMERIKSAAN

LABORATORIUM (PK)
PADA TULANG, OTOT,
SENDI dan SYARAF
dr. Rahma Triliana, M.Kes., PhD
PK FARMASI
Desember 2023
 THE VERY BASIC
(HISTOLOGY + PHYSIOLOGY )
Tulang, otot,
sendi adalah
jaringan
penghubung
(connective
tissue)
 BONE
RESORBTION & FORMATION
DETERMINE BONE DENSITY
 MUSCLE THIN FILAMENT

Spatial configuration of three major protein component (actin, tropomyosin, and troponin). The individual components in the upper
part of the drawing are shown in polymerized form in the lower part. The globular actin molecules are polarized and polymerize in
one direction. Each tropomyosin molecule extends over seven actin molecules. TnI, TnC, and TnT are troponin subunits.
 JOINT

Schematic drawing of a diarthrosis.

The capsule is formed by two parts:
the external fibrous layer and the synovial layer (synovial membrane) that lines the
articular cavity except for the cartilaginous areas (blue).
CHONDROCYTES
Schematic representation
of cellular phenotypes
associated with
developmental fates
during condensation,
chondrogenesis,
chondrocyte proliferation,
differentiation, and
hypertrophy.

BMP, bone morphogenetic

protein; FGF, fibroblast
growth factor; Hh,
hedgehog; IGF, insulin-like
growth factor; IL-1,
interleukin-1; MMP, matrix
metalloproteinase; PTHrP,
parathyroid hormone–
related protein; TGF-β,
transforming growth factor-
β; VEGF, vascular
endothelial growth factor;
Wnt, wingless type.
COLLAGEN STRUCTURE

Three α chains (in this case, two procollagen α1 chains

and one procollagen α2 chain) containing a high content
of the amino acids glycine (Gly) and proline (Pro) wind
together to form a triple helical collagen molecule (A).
After secretion from the cell, the N-terminal and C-
terminal ends are removed by proteases to form a
collagen fibril monomer (B).
Monomers are assembled to form a microfibril, which, in
turn, is assembled into fibrils; finally, multiple fibrils form
a complete collagen fiber (C).
 NERVOUS SYSTEM

This lecture will focus on peripheral nerve disorder

NEURON
 Pathophysiology of
Joint,
Musculoskeletal
And
Peripheral Nervous System
Diseases
 Causes
⚫ V — Vascular
⚫ I — Inflammation/Infection
⚫ N — Neoplasms
⚫ D — Degenerative conditions
⚫ I — Intoxication
⚫ C — Congenital anomalies
⚫ A — Allergic-autoimmune
⚫ T — Trauma
⚫ E — Endocrine
LOCATION
OF THE
MUSCULO-
SKELETAL
DISEASE
 ETHIOPATHOGENESIS OF
BONE & JOINT DISEASES
⚫ Diet + Exercise/mechanical load
⚫ Genetics
⚫ Fluid, Electrolyte & Acid Base imbalance (De/Over-hydration,
Hypo/hyper Na, K, Ca, Cl, Mg, PO4, Acidosis/Alkalosis)
⚫ Metabolic disorder (defect in Energy metabolism &
macro/micronutrients)
⚫ Hormonal disorder (estrogen, insulin, VD, PTH,
glucocorticoid, mineralocorticoid, sun-light exposure)
⚫ Renal disorder (ARF, CRF)
⚫ Immune disorder (Autoimmune diseases)
⚫ Gastrointestinal disorder (malabsorption, surgery etc)\
⚫ Degenerative diseases
⚫ Trauma
ETHIOPATOGENESIS OF
MUSCLE DISORDER
 PERIPHERAL NEURAL
DISORDER (NEUROPATHY)
THEDISEASES
BONE DISEASES
 RICKETS & OSTEOMALACIA SYNDROMES
I. Disorders of the Vit. D endocrine system III. Metabolic acidosis
A. Decreased bioavailability of vitamin D A. Distal renal tubular acidosis
1. Deficient endogenous production 1. Primary
2. Nutritional deficiency 2. Secondary
3. Loss of vitamin D metabolites 3. Acquired
B. Vitamin D malabsorption IV. Disorders of calcium homeostasis
1. Gastrointestinal disorders A. Dietary calcium deficiency
2. Pancreatic insufficiency V. Abnormal bone matrix
3. Hepatobiliary disease A. Fibrogenesis imperfecta
C. Abnormal vitamin D metabolism ossium
1. Impaired hepatic 25-hydroxylation of vit. D B. Axial osteomalacia
2. Impaired renal 1α-hydroxylation of 25- VI. Primary mineralization defects
hydroxyvitamin D A. Hereditary
D. Target organ resistance to vit D 1. Hypophosphatasia
II. Disorders of phosphate homeostasis VII. Mineralization inhibitors
A. Dietary A. Etidronate
1. Low phosphate intake B. Fluoride
2. Ingestion of phosphate-binding antacids C. Aluminum
B. Impaired renal tubular PO4 reabsorption
1. Hereditary
2. Acquired
C. General renal tubular disorders
1. Fanconi's syndrome type 1
2. Fanconi's syndrome type 2
 Skeletal Muscles Diseases
⚫ Congenital (inherited) myopathy
⚫ Dystrophies (Duchenne, Becker, facioscapulo-
humeral, limb-girdle, myotonic)
⚫ Inflammatory (infectious, granulomatous, &
autoimmune)
⚫ Metabolic
⚫ Endocrine (Hypothyroidism,Hyperthyroidism, Acromegaly,
Cushing syndrome and adrenal corticosteroid therapy,
other endocrinopathies (e.g., hypoadrenalism,
hyperparathyroidism) & Inherited metabolic myopathies
⚫ Glycogen storage diseases (Types II, III, V, VII)
⚫ Disordered lipid metabolism (muscle carnitine deficiency)
⚫ Trauma
J
O
I
N
T
D
I
S
O
 JOINT DISORDERS
Group I Group II Group III Group IV
(Non inflammatory) (Inflammatory) (Sepsis) (Hemorrhagic)
Degenerative joint • Rheumatoid arthritis Pyogenic •Hemophilia or other
disease • Acute crystal- bacterial hemorrhagic diathesis
induced synovitis infections •Trauma with or
(gout & pseudogout) without fracture
• Reactive arthritis
Trauma Ankylosing spondylitis Neuropathic
arthropathy
Osteochondritis Rheumatic fever2 Pigmented villo-
dissecans nodular synovitis
Osteochondromatosis Tuberculosis Synovioma
Neuropathic Ankylosing spondylitis Hemangioma &other
arthropathy1 benign neoplasms
Subsiding/early Rheumatic fever2 Trauma with or
inflammation without fracture
Hypertrophic Tuberculosis Neuropathic
osteoarthropathy2 arthropathy
Pigmented villo-
nodular synovitis
Neuromuscular Diseases
THE CLINICAL APPROACH
 1st Thing 1st
⚫ Decide whether its
⚫ Nerve
⚫ Muscle
⚫ Joint
⚫ Bone, or
⚫ Connective tissue diseases

⚫ Through careful history taking & thorough

physical examination (tidak diajarkan)
 DISEASES CLASSIFICATION
Category E.G. Useful Tests
Synovitis Rheumatoid arthritis Rheumatoid factor, ESR
Autoimmune diseases Antinuclear antibody test
Enthesopathy Ankylosing spondylitis Sacroiliac radiographs
Spondyloarthropathies
Crystal-induced Gout Joint fluid crystal examination
synovitis CPPD (pseudogout) Radiographic
chondrocalcinosis
Joint space disease Septic arthritis Joint fluid culture
Cartilage degenerate Osteoarthritis Radiographs of affected area
Osteoarticular dis. Osteonecrosis Radiographs, MRI
Inflammatory Polymyositis Muscle enzymes,
myopathy Dermatomyositis electromyography, muscle
biopsy
Inclusion body myositis
Local & regional Tendonitis or bursitis Aspirate bursa if infection is
conditions suspected
General conditions Polymyalgia rheumatica Elevated ESR
Fibromyalgia Normal ESR
 PHYSICAL EXAMINATION
MUSCULOSKELETAL & JOINT SYSTEM
 Diagnostic approach In
Musculoskeletal PAIN

CRP = C-reactive protein; ESR = erythrocyte sedimentation rate; MRI = magnetic

resonance imaging; OA = osteoarthritis; PE = physical examination.
 Clinical Patterns of Muscle Disease
⚫ Weakness: Proximal; Symmetric; Persistent
⚫ Weakness > Wasting
⚫ Sensory : Normal
⚫ Tendon reflexes:  only in areas of prominent weakness
⚫ Other type of myopathies (Myotonia, Rhabdomyolysis,
Cardiomyopathy)
⚫ EMG
⚫ Motor unit pathology
⚫ Pattern: Small amplitude, brief, polyphasic
⚫ Cause: Reduced number of muscle fibers innervated by each axon
⚫ Inflammatory myopathy
⚫ Fibrillations & Positive sharp waves with myopathy
⚫ Laboratory tests → Serum Creatine Kinase (CK): High
⚫ Muscle Biopsy
⚫ Muscle fiber size: Variable; Small fibers rounded
⚫ Endomysial connective tissue: Increased
⚫ Active disease: Degenerating & Regenerating muscle fibers
⚫ Antibodies: Rule out associated connective tissue disorders
LABORATORY
EVALUATION
 Clin-Path Investigations
⚫ Complete blood count (CBC), erythrocyte sedimentation
rate (ESR), C-reactive protein/CRP, Serum Imunoglobulin
level → Inflammatory/Immune disorder
⚫ Blood Film Evaluation
⚫ Urinalysis → proteinuria/hematuria if + renal involvement
⚫ Liver function testing/LFTs + renal function tests (RFTs) &
Other blood analyte (electrolytes, BGA, uric acid, etc) →
Screen underlying diseases
⚫ Bone profile → Resorption/Formation marker
⚫ Protein electrophoresis → for Ig detection & myeloma.
⚫ Joint aspiration (culture & examination of synovial fluid) →
joint disorder
⚫ Serology → autoantibody (Antinuclear antibody/ANA,
Rheumatoid factor/RF, HLA-B27, anti-dsDNA),
antigen/antibody detection in infection by various agents
 Creatine In
Muscle Disorder
Bone Markers
 OTHERS
⚫ If indicated
⚫ Serum 25-hydroxyvitamin D/Vitamin D & its
metabolite level.
⚫ Thyroid function test
⚫ PTH function test
⚫ Estrogen/progesterone level
⚫ ACTH
Imaging Investigations
⚫ X-ray affected joint(s)/bone
⚫ USG Scanning → soft-tissue swelling (+)
⚫ CT scan/MRI → visualize intra-articular
structures
⚫ Bone scintigraphy → identify abN bone
turnover.
⚫ DEXA scan → Dx & monitoring
osteoporosis.
⚫ Arthroscopy → For selected cases
⚫ BMD determination
 Biopsy Investigation
⚫ Examined by
⚫ Histochemistry: Diagnosis by specific
morpholgic features
⚫ Immunohistochemistry: Absent or reduced
staining for specific protein
⚫ Biochemistry: Absent or reduced enzyme
function
⚫ Ultrastrucure: Rarely helpful
E
L
E
C
T
R
O
M
 BODY FLUID ANALYTES
⚫ Blood, Sinovial Fluid, Pus, other Fluids
⚫ Electrolyte + Acid Base Balance (Na, K, Ca, Mg, PO4, Acid
Base, Bicarbonate)
⚫ Assay of tissue contents
⚫ Glycogen
⚫ Carnitine
⚫ Creatine and Creatinine
⚫ Myoglobinemia and Myoglobinuria
⚫ Various enzymes
⚫ Creatine kinase (CK) (Most spesific & sensitive)
⚫ Aspartate Transaminase (AST)/SGOT
⚫ Lactate Dehydrogenase (LDH)
⚫ Aldolase (ALD)
⚫ Maltases
⚫ Reductases
⚫ Marker of Musculoskeletal & joint
⚫ Immune components (Complement, Ig, Serology)
⚫ Microbiology exam → culture,
SYNOVIAL FLUID
ANALYSIS
 Synovial Fluid is
taken from a process
called
ARTHROCENTESIS

Arthrocentesis
of the knee
 Diagnostic Value of the Joint Pattern.
Characteristic Status Representative Disease
Inflammation Present Rheumatoid arthritis, systemic lupus
erythematosus, gout
Absent Osteoarthritis
Number of Monarticular Gout, trauma, septic arthritis, Lyme disease,
involved joints osteoarthritis
Oligoarticular Reactive arthritis, psoriatic arthritis,
(2–4 joints) inflammatory bowel disease
5 joints) Rheumatoid arthritis, systemic lupus
erythematosus
Site of joint Distal Osteoarthritis, psoriatic arthritis (not
involvement interphalangeal rheumatoid arthritis)
Metacarpophala Rheumatoid arthritis, systemic lupus
ngeal, wrists erythematosus (not osteoarthritis)
First metatarsal Gout, osteoarthritis
phalangeal
CERBROSPINAL
FLUID
ANALYSIS
CEREBROSPINAL FLUID ANALYSIS
⚫ a group of tests to help diagnose diseases of
the brain and spinal cord and other conditions that affect
central nervous system.
⚫ Also called Spinal Fluid Analysis, CSF Analysis
⚫ Used to diagnose:
• Infectious diseases of the brain and spinal cord (e.g.
meningitis encephalitis)
• Autoimmune disorders (e.g. Guillain-Barré Syndrome, multiple
sclerosis).
• Bleeding in the brain
• Brain tumors
• Alzheimer's disease
Cerebrospinal Fluid is
taken from a process called
SPINAL TAP or
LUMBAR PUNCTURE
 CSF-
MACROS
COLOR
CSF IN SOME DISEASES
CSF CHARACTERISTICS IN MENINGITIS
 THANK YOU

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