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Ulnar Canal Syndrome
Guyon Tunnel Syndrome
Injury to ulnar tunnel (nerve and artery)
Hypoesthesisa (medial 1.5 fingers)
Weakness causing clawing of 4 & 5 digits
Organophosphate Poisoning
Inactivates AChE→ increase acetylcholine → overstimulates nicotinic + muscarinic receptors
Muscle tremors
Increased sweating, saliva, tears
Decreased pupil size
Trauma to Medial Epicondyle
Produces paresthesia (numbness/tingling)
Decreased wrist Adduction and flexi on
Claw hand
Cannot make fist or flex 4/5 digit
Pure Autonomic Failure
decrease in sympathetic post-ganglionic neurons→ decrease in norepi
Hypotension
Bladder dysfunction
Decrease sweating
Pheochromocytoma
Neuroendocrine tumor
Diagnose from excess catecholamines
“Hypertension”
Sweating
Headache
Intermittent Schemia
Raynaud Syndrome (if idiopathic)
Arterial and arteriolar contraction
Aggravated by cold and emotional stress
Sympathetic nerves
Post-ganglionic sympathetic fibers
White fingers → loss of O2 → blue fingers → tingling/swelling/throbbing
Scaphoid
Most commonly fracture carpal bone
Fall on outstretched hand
Pain on lateral wrist with flexion and abduction
Dupuytren Contracture Palmar Fascia
Degeneration of longitudinal bands of palmar aponeurosis
Shorter and thicker aponeurosis and palmar fascia
Ring and pinky finger are most affected
Anterior Interosseus Syndrome
Median Nerve Injury
Okay sign is pinched instead of circular
Decreased flexion of IP joint in thumb and DIP of index finger
Referred pain
Cross talk by viscerosensory fibers and somatosensory input
Visceral problem (heart attack) is felt as pain in chest/left arm
Pronator Teres Syndrome
Nerve entrapment caused by Median Nerve compression at elbow by heads of pronator teres
After repeated allow movements
Cubical Tunnel Syndrome
Ulnar Nerve entrapment
Prior fracture/dislocation at elbow
Decreased sensation at pinky and ring finger
Slight claw hand
Supinator syndrome
PIN Syndrome
Posterior Interosseous Nerve
Pain and weakness in wrist/finger
NO sensory loss
Digital Synovial Sheath Infection
Inflammation of tendon and synovial sheath
Separate synovial sheath of 2/3 and 4 fingers
Median Nerve Palsy
Cannot flex DIP of index finger
Cannot flex 2/3 digit into fist
Synovial Cyst on Wrist
Contains clear mucinous fluid
Flexion can enlarge cyst and cause pain
Close to synovial sheath
Wrist drop
Lesion of radial nerve, loss of cutaneous sensation
Lesion of posterior interosseous nerve, NO loss of cutaneous sensation
Anatomical Snuff Box
Can assess fracture of trapezium and scaphoid
Contains radial artery and superficial branch of radial nerve and cephalic vein
Can find pulse of radial artery
Hyperhidrosis
Increased sweating on hands/feet
Treat with anticholinergics
Stretch Reflex
Important for testing spinal cord levels
Patellar knee jerk @ L4 → femoral nerve
AC Separations
Grade 1: strain AC ligament
Grade 2: rupture AC ligament
Grade 3: rupture AC + coracoclavicular ligament
Glenohumeral dislocations
90% anterior
Adhesive Capsulities
Frozen shoulder
Restricted active+ passive ROM
3 stages: freezing, frozen, thawing
Associated with hypothyroidism
Neurofibromatosis Type 1
Autosomal dominant
Mutation in cell cycle regulatory protein
Variable expression
Axillary freckling
Cafe au lait spots
Multiple neurofibromatosis
Lisch nodules in eyes
Marfan Syndrome
Autosomal dominant
Mutation in fibrillin gene (ECM and connective tissue)
Pleiotropy
Skeletal abnormalities
Long/thin limbs + fingers
Hyper mobile joints
Myopia + d
Hemophilia A & B
Gene defect in blood clotting factor VII (A) and IX (B)
Prolonged bleeding
Intracranial hemorrhage
Easy brushing
Hemoarthosis - bleeding in joints, swelling, loss of mobility
AIDS is most frequent cause of death
Factor replacement therapy via infusion
A-Thalassemia
Poor synthesis of alpha chain
Accumulation of b-globin tetra ears
more soluble and less toxic than b-thalassemia
Entire gene deletion is most common
6 genotypes:
Normal (aa/aa)
Silent Carrier (-a/aa)
Asymptomatic
Normal RBC
3/4. A-Thalassemia trait (-a/aa), (—/aa)
Asymptomatic
Same as b-thalassemia minor
HbH disease (—/-a)
Severe
Same as b-thalassemia intermediate
Hydrops Fetalis (—/—)
Fatal at birth
B-Thalassemia
Poor b-chain synthesis
Accumulation of a-chain tetramers
very insoluble and more toxic than a-thalassemia
Increased death of RBC
Hemolytic anemia
Decreased hemoglobin
Excess alpha-globin
3 Major Types:
Thalassemia Minor (B/Bo)
Asymptomatic or mild anemia
Thalassemia Major (Bo/Bo)
Decreased b-globin or fully absent
Increased RBC
Enlarged liver and spleen
Face and skull deformities
Increased iron absorption
Treat with iron chelation therapy
Thalassemia Intermedia (B+/B+), (B+/Bo)
Varies between major and minor
Duchenne Muscular Dystrophy
Insertions or elections cause frameshift
NOT a factor of 3
X-linked (mutations usually inherited from mother)
Becker Muscular Dystrophy
Insertion to deletions cause frameshift
ARE factor of 3
Mild compared to DMD
Muscle atrophy
Fragile X Syndrome
Trinucleotide repeat expansion in 5’ NCR
Long face
Large mandible
Large everted ears
Marco-orchidism in males
Most common inherited cause of mental impairment
Most common known cause of autism
X-linked recessive- males
Ehlers Danlos Syndrome
Locus heterogeneity: same disease phenotype from mutations at different genes
Autosomal dominant: collagen gene mutation
Autosomal recessive: Lysyl hydroxylase mutation in ER
X-linked recessive: mutation in copper-binding protein reduces available Cu → decreases cross-linking via lysyl oxidase
Myotonic Dystrophy
Anticipation: most recent generation shows earlier onset + most severe symptoms
Increase in repeats = increase in disease severity and onset
Trinucleotide repeat in 3’NCR
Most common adult muscular dystrophy
creates RFLP after restriction digest
No PCR because repeat is too large
Cystic Fibrosis
Genetic mutation
Results in defective Cl ion channel
Improper folding and assembly of CFTR → degradation of Cl transport protein
Diagnostic hallmark is elevated Cl in sweat
Mucus accumulation in lungs
3 nucleotide deletion in CFTR gene → missing phenylalanine
Down Syndrome
Autosomal Trisomy
Trisomy 21
Most common genetic cause of cognitive impairment
Short stature
Decrease IQ
Flat profile
Slated eyes
Congenital heart defects
Increased risk of leukemia
High survival rate past age 30
Methemoglobinemia
Elevated methemoglobin in RBC
Low O2 affinity (deoxy form)
Autosomal recessive
Blood remains blue color when exposed to air
Blood with lack of O2 will turn red when exposed to air
Acquired form: from oxidative stress (drugs, antibiotics, trimethoprim, anesthetics, nitrates)
Congenital form: deficiency NADH methemoglobin reductase, pyruvate kinase deficiency, treat with methylene blue: e- donor to reduce methemoglobin to normal hemoglobin (HbA with Fe)
Edwards Syndrome
Autosomal trisomy
Trisomy 18
Commonly death at birth
Prominent occiput
Smooth mouth and ears
Congenital heart
Internal organ defects
Clenched fists and overlapping fingers
Rocker bottom feet
PKU
Blood test for elevated phenylalanine and low tyrosine
Mutation in phenylalanine hydroxylase gene
Marker is added or lost restriction site
Blue Baby Syndrome
Babies more prone because elevated nitrate in water and food
No enzymes developed to protect against disease
Ellis Van Creveld Disease
Rare autosomal recessive
Genetic drift: finite population sizes
Polydactyl
Short limbed dwarfism
EVC gene
HIV
Exposure produces Ab against HIV
ELISA screening
2nd test with Western Blot
Immunoassay uses enzyme that recognizes HIV Ab after incubation
Patau Syndrome
Autosomal trisomy
Trisomy 13
Commonly death at birth
Oral-facial clefts
Small eyes
Polydactyl
Heart and organ defects
Sickle Cell Anemia
Mutation in b-globin gene
Creation of RFLP that is used for diagnosis
Southern blot: B-globin probe
PCR: MstII enzyme
ASO: probe for HbS
Klinefelter Syndrome
Sex chromosome aneuploidy
Long arms and legs
Breast development (gynecomastia)
Lower IQ
Turner syndrome
45, X
Short stature
Webbed neck
Lymphedema of ankles and wrists
Sterility
47, XYY Males
Sex chromosome aneuploidy
Essentially normal but tall
Mild social problems
47, XXX Females
Sex chromosome aneuploidy
Essentially normal
Increased schizophrenia problems
Avascular necrosis
Osteonecrosis
Bone tissue dies due to lack of blood supply
Usually in hip joint
Common after femoral neck fracture because damage of medial circumflex femoral artery + retinacular artery
Patellar Tendon Reflex
Tap on patellar ligament causes knee jerk
Tests femoral nerve and L2-L4 segments
Absence of reflex can be from any interruption to quad innervation
Piriformis Syndrome
Compressed sciatic nerve
Pain and numbness in butt and legs
sign is external rotation of foot
Femoral Neck Fracture
Due to osteoporosis or age
Shorter limb + laterally rotated
Can tear retinacular arteries
Trendelenburg Sign
Stand on 1 foot
if hip tilts down on lifted leg
Damage to superior gluteal nerve → glute medius + minimus
CANNOT abduct hip on standing leg
Intragluteal Injection
Always inject upper lateral quadrant
Avoids superior gluteal nerve and sciatic nerve
Arthritis
Rheumatoid
Autoimmune inflammation narrows concentric joint space
Worse after rest
MCP, PIP, Hips, elbow, spine
Osteoarthritis
Wear + tear narrows asymmetric joint space
Worse after activity
Hips, knees, DIP (herbenden’s nodes), PIP (Bouchard’s nodes)
Nursemaid’s elbow
Pain with arm supination
Arm is forcibly pulled by picking up child/swinging
Displaced annular ligament
Carpal Tunnel Syndrome
Median nerve entrapment
Tingling/pain of first 3.5 digits
Prayer test
De Quervain’s Tenosynovitis
Gamer’s Thumb
Pain/swelling at thumb
Tenosynovitis in Abductor Pollicis Longus + Extensor Pollicis Brevis
From repetitive hand motions + hormonal changes
Finkelstein Test (passive + physician directed)
Eichhoff’s Test (active + patient directed)
Epicondylitis
Medial: pain with flexion → Golfer’s elbow
Lateral: pain with extension → Tennis elbow
Swan-neck
Common in Rheumatoid Arthritis
Flexion of MCP + DIP
Extension of PIPB
Cystic Fibrosis
3’ nucleotide deletion in CFTR gene → missing phenyalanine
ASO probe
PCR for gene deletion
Autosomal Recessive
Down Syndrome
Trisomy 21
Most common genetic cause of mental incapacitation
Increased risk of leukemia or congenital heart defects
Edwards Syndrome
Trisomy 18
clenched fists + overlapping fingers
Rocker bottom feet
Ellis Van Creveld Disease
Rare Autosomal Recessive
Genetic Drift: finite population sizes
Polydactyl
Short limbed dwarfism
EVC gene
HIV
ELISA screening, 2nd test Western blot
Immunoassay uses enzyme that recognizes HIV Ab after incubation
Patau Syndrome
Trisomy 13
Oral Facial defects
Klinefelter Syndrome
47, XXY
long arms and legs
sterile and small testes
gynecomastia
Turner Syndrome
45, X
short stature
webbed neck
sterility
47, XYY
Males
essentially normal but tall
mild social problems
47, XXX
Females
essentially normal
increased schizophrenia problems
Venous Stasis
usually great saphenous vein
pooling of blood in lower leg
due to decreased activity/muscle contraction
can cause blood clots/thrombosis
Intragluteal Injection
always inject upper lateral quadrant
avoids superior gluteal nerve and sciatic nerve
Arthritis
1) Rheumatoid
Autoimmune inflammation narrows concentric joint space
Worse after rest
MCP, PIP, Hips, elbow, spine
2) Osteoarthritis
wear and tear narrows asymmetric joint space
worse after activity
hips, knees, DIP (herbenden’s), PIP (bouchard’s)
Nursemaid’s Elbow
pain with arm supination
arm is forcibly pulled by picking up child/swinging
displaced annular ligament
Carpal Tunnel Syndrome
median nerve entrapment
tingling/pain of first 3.5 digits
prayer test
Epicondylitis
1) Medial: pain with flexion → Golfer’s Elbow
2) Lateral: pain with extension → Tennis Elbow
Boutonniere
common in Rheumatoid Arthritis
Extension of MCP + DIP
Flexion of PIP
Results from rupture of extensor tendon