What is the normal mechanism of Achondroplasia?
Activation of FGFR3.
What is the pathologic mechanism of achondroplasia?
mutation leads to r/c being in constant state of activation
What disease is also caused by a defect in FGFR3?
What will the FGFR3 do once activated?
Inhibit cartilage proliferation.
What fails to grow in achondroplasia?
longitudinal bone growth, leads to short limbs
What kind of trait is Achondroplasia?
What is the prognosis in achondroplasia?
normal life span and fertility
What is osteopetrosis?
thick bones resulting from defect in the function of osteoclasts
Is membranous ossification affected in achondroplasia?
Osteopetrosis is caused by what?
A genetic deficiency of carbonic anhydrase II.
what is the most common lethal form of dwarfism?
What is the prevalence of T.D?
What are some physical characterisitics of a person with TD?
micromelic limbs, frontal bossing with relative macrocephaly, small chest cavity, bell shaped abdomen. (Gummi bear)
what leads to death at birth in TD?
underdeveloped thoracic cavity leads to respiratory insufficiency
What is osteopetrosis AKA?
marble bone disease, and Albers-Schonberg disease
What is osteopetrosis a failure of?
failure of normal bone resorption → thickened, dense but brittle bones
What would levels of serum Ca, P and alkaline phosphatase be like in Osteopetrosis?
What can x-rays of osteopetrosis show?
Erlenmeyer flask bones.
Erlenmeyer flask bones that flare out can result in what?
Cranial nerve impingment, and palsies due to narrowed foramina.
What is the most common fracture with aseptic bone necrosis?
What are some known causes of aseptic bone necrosis?
trauma, emboli, drugs, radiation
What is the most common fracture with aseptic bone necrosis in the carpal bones?
What are patients with autoimmune rheumatic disorders at increased risk of?
What is the cause of EF?
Eosinophilic fascitis often begins after what?
What is a common sign of eosinophilic fascitis?
What areas of the body does EF typically not involve?
fingers and toes (acral areas)
is muscle strength impaired with EF?
no, but myalgia and arthritis may occur
Cutaneous manifestiations with eospinophilic fasciitis may suggest what?
Patients with systemic sclerosis usually also have what?
Raynaud’s syndrome, acral involvment, telangiectasia, and visceral changes.
Will patients with eosinophilic fascitis also have Raynaud’s syndrome, acral involvment, telangiectasia, and visceral changes?
What will blood tests show with a patient with eosinophilic fasciitis?
Serum protein electrophoresis shows polyclonal hypergammaglobulinemia.
What % of females and males get Mixed connective tissue disease (MCTD)?
With mixed connective tissue disease what signs and symptoms may precede other manifestations by years?
Some of the first manifestations of mixed connective tissue disease resemble what?
Early SLE, Sytemic sclerosis, polymyositis, dermatomyositis, or RA.
What is the most frequent finding with mixed connective tissue disease?
Sausage-like appearance of the fingers.
Renal disease happens how often and how serious with mixed connective tissue disease?
10% (rare) and is often mild.
what kind of neuropathy frequently occurs in MCTD?
trigeminal sensory neuropathy
Mixed connective tissue is diagnosed how (without doing labs)?
Overlapping features are present in patients appearing to have SLE, systemic sclerosis, polymyositis, or RA.
What will lab work show with a patient that has mixed connective tissue disease?
RNP antibodies very high, positive ANA.
What type of antibodies are present with mixed connective tissue disease?
85% of mixed connective tissue disease patients have what else involved?
What are some main causes of death associated with MCTD?
pulmonary HTN, renal failure, MI, colonic perforation, disseminated infection, cerebral hemorrhage
Which HLA subtypes are associated with polymyosistis and dermatomyositis?
DR3, DR52, DR6
what are the subtypes of polymyositis and dermatomyositis?
What are some possible ways polymyositis and dermatomyositis are incited?
Viral myositis and underlying cancer.
Dermatomyositis is considered what?
A complement-mediated vasculopathy (disease of blood vessels).
What is the abnormality in polymyositis?
Direct T-cell mediated muscle injury.
What skin changes occur with dermatomyositis?
Periorbital edema with a purplish appearance (heliotrope rash).
What would another relatively specific finding be with a patient that has dermatomyositis?
Gottron’s papules (pink patches on the knuckles).
What is a way to diagnose someone who has polymyositis?
Proximal muscle weakness with or without muscle tenderness.
polymyositis and dermatomyositis share clinical findings with systemic scerosis or less frequently SLE or vasculitis so what should be done to diagnose polymyositis and dermatomyositis correctly?
Include as many of the following 5 criteria as possible:
- proximal muscle weakness.
- Characteristic skin rash.
- Elevated serum muscle enzymes.
- Characteristic electromyographic or MRI abnormalities.
- Muscle biopsy changes.
What is a way to diagnose someone who has dermatomyositis?
Heliotropic rash or gottron’s papules.
Of the 5 tests to determine if a patient has polymyositis and dermatomyositis which one is the definitive test?
Muscle biopsy changes.
What else should be tested with polymyositis and dermatomyositis patients?
Cancer screening is recommended.
What is the prognosis for poly and dermato?
long remissions occur in up to 50% of treated patients. Overall 5 year survival rate is 75% and higher in children.
Relapsing polychondritis has what signs and symptoms?
Acute pain, erythema and swelling.
What is the most common and second most common place for acute pain, erythmea, and swelling with relapsing polychondritis?
1st pinna cartilage. 2nd- nasal cartilage.
What joints will have arthritis with relapsing polychondritis?
What are some criteria for diagnosing relapsing polychondritis?
1) Bilateral chondritis of external ears
2) inflammatory polyarthritis.
3) nasal chondritis
4) ocular inflammation
5) respiratory tract chrondritis
6) auditory or vestibular dysfunction
Bouts of inflammation in relapsing polychondritis heal over what time frame?
Over weeks to months with recurrences over several years.
How many diagnostic criteria must be present for a diagnosis of relapsing polychondritis?
3 or more of 6 manifestations.
Sjogren’s syndrome occurs most frequently amoung who?
What happens with sjogren’s syndrome?
Salivary, lacrimal, and other exocrine glands become infiltrated with CD4+ T helper cells and with some B cells.
What happens to the exocrine glands once infiltrated with CD4+ T cells and some B cells?
They are damaged and atrophy.
What will lacrimal glands that are damaged and atrophy cause to happen?
What is a way to diagnose sjogren’s syndrome?
Gritty or dry eyes or dry mouth.
What is needed to officialy diagnose someone with sjogren’s syndrome?
3 or more of 6 manifestations.
What are the 6 manifestations of sjogren’s syndrome?
- Eye symptoms. 2. Oral symptoms. 3. positive eye tests. 4. Salivary gland involvment. 5. autoantibodies. 6. Histopathology.
How is histopathology of sjogren’s syndrome done?
Biopsy of minor salivary glands.
How is a histopathology of sjogren’s syndrome confirmed?
LabialmMinor salivary gland will show multiple large foci of lymphocytes with atrophy of acinar tissue
What type of people will get Systemic Lupus erythematosus (SLE)?
70-90% in females. More common amoung blacks, and Asians than Whites.
How quickly will SLE develop?
Abruptly or insidiously.
SLE will develop with episodes of what?
Arthralgias (joint pain), and Malaise (General body weakness or discomfort).
What are some of the initial findings of SLE?
Vascular headaches, epilepsy, or psychoses (Mental disorder).
What happens to the skin with SLE?
Malar butterfly erythema.
What is the most common cardiac problem with SLE?
pericarditis (inflammation of pericardium).
Name the 11 clincal findings of SLE?
- Malar rash.
- Discoid rash.
- Oral ulcers.
- Renal disorder.
- Neurolgic disorder.
- Positive Anti-DNA or anti-smith antibodies.
- Antinuclear antibodies ANA ih high titers.
What type of endocarditis is seen with SLE patients?
How many of the 11 criteria for calssification of SLE are needed to classify the patient as having SLE?
At least 4.
What will anti-Sm and Anti-double-stranded DNA antibodies tell us about SLE?
They are very specific but not sensitive.
What will blood tests be like for SLE?
Serum complement levels (C3-C4) are often depressed. ESR is elevated.
Renal involvment with SLE will be screened with a urinalysis and it will show what?
RBC and WBC casts suggest active nephritis.
What will the prognosis of SLE be?
Chronic relapsing and unpredictable.
Improvments of SLE often take how long?
What should be tested on pregnant women with SLE?
Discoid lupus erythematosus will lead to skin changes as part of lupus and the skin changes will cluster where?
In light-exposed areas of the skin. Such as face scalp and ears
Drug-Induced lupus erythematosus will show what in lab work?
Extremely high antihistone antibodies.
Systemic sclerosis pathophysiology involves what?
What is pathophysiology?
Study of normal changing to abnormal caused by a disease.
Systemic sclerosis is aka?
What happens to the skin with systemic sclerosis aka scleroderma?
More compact collagen fibers in the reticular dermis, epidermal thinning, loss of rete pegs, and atrophy of dermal appendages.
What is systemic sclerosis called that is isolated to skin involvment?
Limited cutaneous scleroderma or Crest syndrome.
What is a sign of systemic sclerosis aka scleroderma?
Raynaud’s syndrome, and swelling of distal extremities.
What is Raynaud’s syndrome?
How will Systemic sclerosis aka scleroderma affect the joints?
Polyarthralgias, or mild arthritis, flexion contractures.
What is a common cause of death from systemic sclerosis aka scleroderma?
Lung involvment, and pulmonary hypertension.
Which serum and antibodies should be tested in Scleroderma?
Serum ANA and SCL-70
What is the prognosis of systemic sclerosis?
What is the 10 year survival rate like with systemic sclerosis?
What type of systemic sclerosis can be limited and nonprogressive for long periods?
Crest syndrome which is aka cutaneous scleroderma.
What can BCP crystals destroy?
joints and can cause severe intra-articular or perarticular inflammation
Calcium pyrophosphate dihydrate crystal deposition disease is transmitted in an autosomal dominant pattern with complete penetration by when?
With Gout what is the most common cause of hyperuricemia?
Decreased renal excretion.
In gout, increased production of urate may be caused by what?
increased turnover in hematologic conditions. And in conditions with increased rates of cellular proliferation and death.
What is lesch-Nyhan syndrome?
A complete deficiency of the enzyme called hypoxanthine-guanine phosphoribosyltransferase.
Lesch-nyhan syndrome is associated with what disorder?
intake of what kind of foods can contribute to hyperuricemia?
With gout urate crystals will precipitate out as what
Needle-shaped monosodium urate.
What is podagra?
Gouty inflammation of the metatarsophalangeal joint of the great toe.
What is tophi?
Firm yellow or white papules or nodules that occur in patients who have had chronic gout or who have never had gout.
How will tophi be present in gout?
Single or multiple.
About 20% of chronic gout patients will develop what?
urolithiasis with uric acid stones or Ca oxalate stones.
Palindromic rheumatism (gout) is acute, recurrent attacks of inflammation in or near one or several joints and these attacks happen how?
Attacks subside spontaneously and completely in 1 to 3 days.
What are serum urate levels like with an acute attack of gout?
at leaste 30% of patients have normal serum urate at time of attack.
With new gout patients the serum urate levels should be measured 2 or 3 times to establish a baseline if it is elevated what can also be measured?
24-h urinary urate excretion.
What is the normal amount of urinary urate excretion in 24 hours?
X-rays of gout patients are taken to look for what?
What is the shape of monosodium urate (gout crystal)?
Needle- or rod-shaped.
What is the shape of Ca pyrophosphate dihydrate (gout crystal)?
Rhomboid- or rod-shaped.
What is the shape of Ca oxalate (a rare gout crystal)?
What is the shape of Basic Ca Phosphate (gout crystal)?
Shiny, coinlike or slightly irregular.
With achilles tendon enthesopathy what can be done to minimize stress to the achilles tendon?
Night splints, Heel lifts.
What are the signs and symptoms of anterior achilles tendon bursitis?
Pain, swelling, and warmth around the heel are common.
What will cause pain to a patient with anterior achilles tendon bursitis?
Use thumb and index finger, side to side compression anterior to achilles tendon will cause pain.
A bunion is what?
A adventitious bursa due to pressure from tight shoes.
A bunion is often caused by what?
a bunion that has swelling and mild inflammation that affects the entire joint would be called what?
Osteoarthritic synovitis is more what?
Epiphysitis of the calcaneus is aka?
What is ephiphysitis of calcaneus aka sever’s disease?
Cartilaginous disruption in calcaneal epiphysitis.
When will Pain will develop for people with epiphysitis of the calcaneus aka sever’s disease?
between 9-14 usually.
What is the usual cause of Hammer toe deformity?
Misalignment of the joint surface due to genetic predisposition toward aberrant foot biomechanics and tendon contractures
What is another cause of Hammer Toe Deformity?
What is the most common digit affected with hammer toe deformity?
Painful corns often develop from hammer toe and they affect what toe?
Inferior calcaneal bursitis can develop at the inferior calcaneous near what?
the insertion of the plantar fascia.
What is a symptom or sign of medial plantar nerve entrapment?
Almost constant pain.
What is a treatment of medial plantar nerve entrapment?
Physical therapy and cryotherapy (treatment by means of application of cold).
What is the most common cause of metatarsalgia?
Freibergs disease, interdigital nerve pain, Morton’s neuroma
What is morton’s neuroma?
It includes Freiberg’s disease and interdigital nerve pain.
What is Freiberg’s disease?
avascular necrosis of the metatarsal head.
What disease is Freiberg’s disease seen with?
How is metatarsalgia diagnosed?
What will be seen on X-rays of a metatarsalgia patient?
head of 2nd metatarsal is widened and flattened.
What are the signs and symptoms of metatarsalgia?
Burning or lancinating(stabing) quality or paresthesias.
What can??t patients do with metatarsalgia?
Wear most shoes.
What causes tissue changes with metatarsalgia?
Tissue changes due to aberrant foot biomechanics.
To diagnose metatarsalgia take the patients foot and 1st toe is dorsiflexed and then inspect the metatarsal head and palpate each sesamoid. Tenderness is localized where?
To a sesamoid usually the tibial sesamoid.
Plantar fasciosis is caused by a shortening or contracture of the calf muscles and plantar fascia and what are the things that can lead to this?
Plantar fasciosis is common amoung sedentary people and which other population and situations?
People who are standing or walking on hard surfaces for prolonged periods.
What is a sign or symptom of plantar fasciosis?
Pain at the bottom of the heel on weight bearing particularly when first arising in the morning.
What happens to pain at the bottom of the heel for plantar fasciosis in the morning, does the pain return?
It usually improves within 5 to 10 minutes only to return later in the day.
How is plantar fasciosis diagnosed?
Confirmed if firm thumb pressure applied to calcaneus when the foot is dorsiflexed elicits pain.
What are the most effective treatments of plantar fasciosis?
in-shoe heel and arch cushioning, calf stretching exercises, and night splinting devices that stretch the calf and plantar fascia.
With plantar fibromatosis what is seen while the foot is dorsiflexed?
Nodules displayed most easily when the foot is dorsiflexed against the leg
What is Haglund’s deformity and what is condition is it associated with?
bony prominence on the calcaneous seen with many posterior achilles tendon bursitis patients.
what are the signs and symptoms of posterior achilles tendon bursitis?
Cystic nodules 1-3 cm in diameter.
Enthesopathy(A disease occurring at the site of attachment of muscle tendons and ligaments to bones or joint capsules) is differentiated from posterior achilles tendon bursitis how?
by the absence of a soft-tissue lesion.
What is another name for Tarsal Tunnel Syndrome?
Posterior tibial nerve neuralgia
What nerve and where is the nerve compressed to cause Tarsal Tunnel Syndrome?
At the level of the ankle, the posterior tibial nerve passes through a fibro-osseous cnaal and divides into the medial and lateral plantar nerves
What are the signs and symptoms of tarsal tunnel syndrome?
Pain (occasionally buring and tingling).
Where will pain be found with tarsal tunnel syndrome?
Retroballeolar and sometimes in the plantar medial heel and may extend along the plantar surface as far as the toes.
How is tarsal tunnel syndrome diagnosed?
TAPPING or palpating the posterior tibial nerve below the medial malleolus at the site of compression or injury, and this will often cause distal tingling.
When tapping of the posterior tibial nerve to diagnose tarsal tunnel syndrome and the patient gets distal tingling what is this called?
What is the treatment for tarsal tunnel syndrome?
Foot inversion, injection, surgery or a combination
What is tibialis Posterior Tendinosis?
Degenration resulting from long-standing biomechanical problems such as excessive pronation (often in obese people) or involved with primary inflammatory disorders ie: RA or gout
What are some signs and symptoms of Tibialis Posterior Tendinosis?
Early on, occasional pain behind the medial malleolus but over time pain becomes severe with painful swelling behind the medial malleolus
What is the treatment for Tibialis Posterior Tendinosis?
Orthotics and braces or surgery
What are the 5 different joint disorders?
1) Juvenile Idiopathic arthritis (JIA).
2) Neurogenic arthropathy.
3) Osteoarthritis (OA).
4) Rheumatoid arthritis (RA).
5) Seronegative Spondyloarthropathies
With tibialis posterior tendinosis a treatment could be corticosteroid injections what will this do?
Exacerbate the degenerative process.
What is the cause of juvenile idopathic arthritis?
What seems to be the cause of Juvenile idopathic arthritis?
Genetic predisoposition and autoimmune pathophysiology.
What are the 3 possible patterns of Juvenile idiopathic arthritis?
- Systemic onset.
- Pauciarticular onset aka oligoarticular.
- Polyarticular onset.
How many possible patterns are there of Juvenile idiopathic arthritis?
What is the difference between pauciarticular (oligoarticular) and polyarticular onset of juvenile idiopathic arthritis?
Pauciarticular (oligoarticular) onset- less than 4 joints are involved.
Polyarticular onset- more than 5 and often more than 20 joints are invovled.
Systemic onset of juvenile idiopathic arthritis is aka?
How will Still’s disease be diagnosed by lab work?
RF and ANA are absent.
What will lab work show for pauciarticular onset JIA?
ANA are present in up to 75% and RF is absent.
What will the lab work show for polyarticular-onset?
RF usually negative.
What type of patients with polyarticular-onset JIA will RF be positive?
What is iridocyclitis and what disorder is it associated with?
Inflammation of the iris and ciliary body found with juvenile idiopathic arthritis
What complications can iridocyclitis cause?
Pain, photophobia but can be asymptomatic leading to scarring and glaucoma with band keratopathy
What is the pathophysiology of neurogenic arthropathy?
Impaired deep pain sensation or proprioception.
What are the signs and symptoms of neurogenic arthropathy?
Pain is the first symptom, but ability to sense pain is impaired and therefore the degree of pain is often unexpectedly mild for the degree of joint damage.
What are some of the late signs and symptoms of neurogenic arthropathy?
Fractures and bony healing may produce many loose pieces of cartilage or bone BAG OF BONES.
What will neurogenic arthropathy simulate in its early stages?
How can neurogneic arthropathy be distinguished from osteoarthritis?
Neurogenic arthropathy progresses more rapidly than OA and frequently causes proportionately less pain.
How is neurogenic arthropathy treated?
Treatment of the underlying neurologic condition may slow progression.
What is the most common joint disorder?
What is neuropathic arthropathy also known as?
What is the most common joint disorder?
What are the two types of Osteoarthritis classifications?
Primary (idiopathic) or Secondary (some known cause)
What is a primary Osteoarthritis that involves multiple joints classified as?
Primary Generalized Osteoarthritis
What are some other names for Osteoarthritis?
Degenerative Joint disease, Osteoarthrosis, Hypertrophic osteoarthritis
How does the process of Osteoarthritis begin?
Begins with tissue damage from mechanical injury, transmission of inflammatory mediators from the synovium into cartilage or defects in cartilage metabolism
What happens to synovial fluid with OA?
The synovium becomes inflamed and thickened and produces synovial fluid with less viscosity and greater volume.
What is symptom or sign of OA?
Pain is usually worsened by weight bearing and relieved by rest but can eventually become constant.
Stiffness following awaking with OA lasts how long?
less than 30 minutes.
What are the joints most often affected by OA?
DIP and PIP (although RA has more effect on PIP)
What are names for the nodes on the DIP and PIP joints ?
DIP- distal interphalangeal aka Heberden’s nodes. PIP-proximal interphalangeal aka Bouchards nodes.
How can OA affect back pain?
Lower back or leg pain that is worsened by walking or back extension
What is a treatment of OA of the hip?
How is Osteoarthritis diagnosed?
X-rays, generally reveal marginal ostephytes, narrowing of the joint space, increased density of the subchondral bone, subcondral cyst formation, bone remodeling, and joint effusions. (standing x-rays of knees are more sensitive at detecting joint space n
What are 2 treatments of OA?
Rehabilitation techniques and weight loss.
What is a cause of Rheumatoid arthritis?
Autoimmune reactions although the precise cause is unknown
What is the pathophysiology of Rheumatoid Arthritis?
Prominent immunologic abnormalities include immune complexes produced by synovial lining cells and in inflamed blood vessels
What happens to the synovium with Rheumatoid arthritis aka RA?
normally thin synovium thickens.
Lots of inflammatory mediators are released with Rheumatoid arthritis and they are released by what?
Hyperplastic synovial tissue (pannus)
In what percentage of patients with RA do rheumatoid nodules develop?
What is a symptom or sign of Rheumatoid arthritis?
Symmetric joint symptoms, stiffness that lasts 60 minutes or more after rising in the morning, and the stiffness may occur after any prolonged inactivity.
In which joints does rheumatoid arthritis affect?
Virtually any joint except uncommonly the distal interphalangeal (DIP) joints and the axial skeleton is rarely involved except for the upper cervical spine
What do popliteal cycsts cause?
Found with Rheumatoid Arthritis and they are cysts that can cause calf swelling and tenderness suggestive of deep vein thrombosis
What are popliteal cycsts also named as?
How can Rhematiod arthritis be diagnosed?
Check for Anti-cyclic citrullinated peptide antibody (ccp) antibodies and serum rheumatoid factor (RF).
You need 4 of 7 criteria to diagnose someone with RA what are the 7 criteria?
- Arthritis in 3 or more joints.
- Arthritis in hand joints.
- Morning stiffness for more than 1 hour.
- Rheumatoid nodules.
- Serum rheumatoid factor.
- Symmetric arthritis.
- Imaging changes.
What are some differential diagnosis that can simulate RA?
1) Crystal-induced arthritis
5) Reactive arthritis
6) Psoriatic arthritis
7) Ankylosing spondylitis
Anti-ccp is more sensitive for RA than what?
What would the Rheumatoid factor aka RF be like in labs of a patient that has seronegative spondyloarthropathies?
RF is negative.
What disorders will be included in seronegative spondyloarthropathies?
Ankylosing spondylitis, reactive arthritis, psoriatic arthritis, and others.
In what population is ankylosing spondylitis more frequent?
3 times more frequent in men than in women and begins most often between ages 20 and 40
What is common in untreated ankylosing spondylitis patients?
What is the spine like with ankylosing spondylitis?
What are some systemic neurologic signs that can result from ankylosing spondylitis?
Compression radiculitis or sciatica, vertebral fracture or subluxation, or cauda equina syndrome
What is a cardiovascular manifestation that can result from ankylosing spondylitis?
Dyspnea, cough or hemoptysis can occur
What can cause a secondary infection associated with ankylosing spondylitis?
How is ankylosing spondylitis diagnosed?
Lumbosacral spine imaging and blood tests (ESR, C-reactive protein and CBC)
Is ankylosing spondylitis equivalent to diffuse idiopathic skeltal hyperostosis (DISH)?
What comorbity is opten associated with idiopathic skeletal hyperostosis (DISH)?
Diabetes Mellitus type II
Reactive arthritis is aka?
What can’t you do with reactive arthritis?
can’t see, can’t pee, and can’t dance with me.
What is joint involvment like with reactive arthritis aka reiter’s syndrome?
With reactive arthritis when would urethritis develop?
7-14 days after sexual contact.
What else might develop over the next few weeks with reactive arthritis after sexual contact?
How is reactive arthritis diagnosed?
Asymmetric arthritis affecting the large joints of the lower extremities or toes.
Disseminated gonococcal infections can closely simulate reactive arthritis so how can they be distinguished?
Disseminated gonococcal infection tends to involve upper and lower extremities equally, be more migratory and not produce back pain, and reactive arthritis affects the lower extremities or toes.
What else can simulate reactive arthritis?
How can we distinguish between psoriatic arthritis and reactive arthritis?
psoriatic arthritis affects mostly upper extremities especially the distal interphalangeal joints and RA-affects lower extremities.
Psoriatic arthritis develops in 5-40% of patients with what?
What associated disorder is the autoantibody antinuclear antibodies (ANA) a predisposition for?
SLE, but not exclusive.
What associated disorder is the autoantibody anti-ds(double stranded)DNA and anti-smith a predisposition for?
Specific for SLE.
What associated disorder is the autoantibody Antihistone a predisposition for?
What associated disorder is the autoantibody Anti-IgG a predisposition for?
What associated disorder is the autoantibody Anticentromere a predisposition for?
What associated disorder is the autoantibody Anti-Scl-70 a predisposition for?
What associated disorder is the autoantibody anti-jo-1 a predisposition for?
What associated disorder is the autoantibody Anti-SS-A a predisposition for?
What associated disorder is the autoantibody Anti-SS-B a predisposition for?
What associated disorder is the autoantibody Anti-U1 RNP a predisposition for?
Mixed connective tissue disease.
What associated disorder is the autoantibody Anti CCP a predisposition for?
What is another name for Anti-IgG antibody?
What will osteoporosis do to bone?
Cortical thickness and number and size of trabeculae decrease resulting in increased porosity.
What will decrease with osteoporosis?
Total bone mass.
What type of deficiency in men and women is linked with osteoporosis?
Osteoporosis is impaired formation response during bone remodeling probalby caused by what?
Age-related decline in the number and activity of osteoblasts.
Where is the most common site for fragility fractures with osteoporosis?
Distal radius and vertebral compression fractures.
What are some risk factors associated with osteoporosis?
Ciagrette smoking and excessive caffeine or alcohol use.
What drugs can cause osteoporosis? (NB question)
Corticosteroid, Ehtanol, Phenytoin (Dilantin)/anticonvulsants, tobacco, barbiturates, heparin
What is the specific kyphosis accompanied by exaggerated cervical lordosis found in osteoporosis known as?
Widow’s hump or dowager’s hump
What is the cause of dowager’s hump?
Multiple thoracic compression fractures that eventually cause dorsal kyphosis, with exaggerated cervical lordosis
what are some common consequences of osteoporosis?
vertebral crush fractures (acute back pain, loss of heigh, kyphosis), distal radius (Colles’) fractures and femeoral neck fractures
What is seen with an osteoporotic vertebral body when compared to a normal vertebral body?
Loss of horizontally oriented trabeculae but thickened the vertical trabeculae
What is DEXA and what is it used for?
Dual-energy x-ray absorptiometry used to measure bone density often a diagnostic tool for osteoporosis.
What do plain x-rays of osteoporosis show?
A loss of horizontally orientated trabeculae increases the prominence of the cortical end plates and of vertically orientated, weight bearing trabeculae
What other bone disorders are included in Osteopenia?
Osteoporosis or Osteomalacia
what is a DEXA result of >1 defined as?
osteopenia and suggests an increased risk of osteoporosis
what is a DEXA result of >2.5 defined as?
Diagnostic for osteoporosis
What is osteomalacia?
softening of bones as a result of inadequate mineralization of the organic matrix (osteoid). Caused by vitamin D deficiency (inadequate intake, inadequate exposure to sunlight, or abnormal intestinal absorption)
What are some pathologies of osteomalacia
1) Excess non-mineralized osteoid
2) Bone deformities and fractures
What can cause Vitamin D deficiencies?
Inadequate metabolic processing and activation of vitamin D, or disturbances of phosphate metabolism
What are some symptoms of rickets?
2) widened costochondral junction
3) craniotabes (softening of skull bone)
4) delayed definition
What is rickets?
Osteomalacia in children
what is renal osteodystrophy caused by?
Caused by chronic renal failure and compensatory hyperparathyroidism
What are some pathologic findings of renal osteodystrophy?
1) Resorption of bone 2) osteofibrosis 3) Osteomalacia 4) Osteitis cystica 5) Brown tumors of hyperparathyroidism (rare)
What is a synonym for hyperparathyroidism?
Osteitis fibrosa cystica
What is hyperparathyroidism and what will happen with serum values?
Anatomical change due to severe pth elevation that leads to increased serum Calcium, and decreased serum phosphate leading to bone breakdown and fractures
What is Renal osteodystrophy?
Term that collectively describes all skeletal changes of chronic renal failure including:
1) Increased osteoclastic bone resorption mimicking osteitis fibrosa cystica
2)delayed matrix mineralization (steomalacia)
4) Growth retardation
What are some pathogeneic features of renal osteodystrophy?
1) Chronic renal failure -> phosphate retention -> increased PTH to balace Ca/PO4 (2:1 ratio)
2) Chronic renal failure -> decreased vit D activation in kidneys -. Decreased PTH suppression and decreased Ca absorption
3) Chronic renal failure -> metabolic
What lab values would be present with hyperparathyroidism?
High serum calcium, low serum phosphorus, and high ALP (signifies bone fractures and breakdown)
About 80% of osteomyelitis results from what?
contiguous spread or from open wounds it is often polymicrobial.
What are some of the common infecting organims with osteomyelitis?
S. aureus, MRSA(methicillin-resistant S. aureus), Pseudomonas aeruginosa, serratia sp (IV drug users), salmonella sp (sickle cell disease), histoplasmosis, blastomycosis, or coccidioidomycosis (valley fever)
What bones are often involved with osteomyelitis?
The vertebrae are often involved
what pathophysiology tends to occur with osteomyelitis?
Tends to occlude local blood vessels causing bone necrosis and local spread of infection therefore infection may expand through the bone cortex and spread under the periosteum
What are some signs and symptoms of osteomyelitis?
Acute: usually experience weight loss, fatigue, fever and localized warmth, swelling, erythema and tenderness. Chronic: intermittent bone pain, tenderness and draining sinuses.
What are x-rays like for osteomyelitis?
they become abnormal after 2-4 weeks showing periosteal elevation, bone destruction, soft-tissue swelling, and in the vertebrae it shows loss of body height or narrowing of the adjacent infected intervertebral disk space, and destruction of end plates abo
What will show abnormalities earlyer than x-rays with osteomyelitis and what are the limitations?
Bone scans show abnormalities of osteomyelitis earlier than plain x-rays but does not distinguish among infection, fractures, and tumors
What is a characteristic presentation of long standing osteomyelitis?
A drainage tract into the subperiosteal shell of viable new bone (involucrum) and an inner native necrotic cortex (sequestrum)
Paget’s disease is aka?
What is a common feature of Paget’s disease?
Charaterized by irregular restructuring of bone and subsequent thickening and dformities of bones
What is the histologic hallmark of paget’s disease aka osteitis deformans?
Mosaic bone pattern. (histologic hallmark)
How is Paget’s disease diagnosed?
what are 3 phases in the evolution of Paget’s Disease?
1) Destructive (osteolytic) phase
2) Mixed phase
3) Osteosclerotic phase
What can paget’s disease lead to?
Why are the 3 phases of evolution of Paget’s disease pertinent?
Because all three of the phases can be seen on the same radiograph of a single long bone (light to dark)
What are some common yet obscure symptoms of paget’s disease?
Hat size can be increased and hearing loss due to auditory foramen narrowing
What is a benign tumors of the bone?
What is a benign tumors of the cartliage?
What is a benign tumors of connective tissue?
What is a malignant tumors of the bone?
Osteosarcoma and Ewing’s sarcoma
What is a malignant tumors of the cartliage?
What type of primary bone tumor (both benign and malignant) are found in the epiphysis?
Benign: Giant cell tumor (osteoclastoma) Malignant: none
What are Giant cell tumor is aka?
What type of primary bone tumor (both benign and malignant) are found in the metaphysis?
benign- osteochondroma. Malignant- Osteosarcoma.
What type of primary bone tumor (both benign and malignant) are found in the Diaphysis?
Benign- osteoid osteoma. Malignant- Ewing’s sarcoma.
What type of primary bone tumor (both benign and malignant) are found in the intramedullary area?
Benign- enchondroma. Malignant- chondrosarcoma.
With osteosarcoma the periosteum has been lifted and laid down a shell of reactive bone known as what?
What is an enchondroma?
Typically a benign cartilage tumor that is found on the inside of typically small bones like the hands and feet and can cause pathologic (spontaneous, non tramatic) fractures