USMLE Rheumatology IV

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  1. Ewing's sarcoma
    • It is a highly malignant tumor that is found in the lower extremity more than the upper extremity.
    • Most common sites are the metaphysis and diaphysis of the femur, followed by the tibia and humerus.
    • The tumor is very aggressive and metastasizes early to the lungs and lymph nodes.
    • Patients are typically white males in their first or second decade of life.
    • The clinical presentation includes pain and swelling for weeks or months. Erythema and warmth of the local area are sometimes seen.
    • Patients may initially be diagnosed with osteomyelitis, based on the misleading presentation of intermittent fevers, leukocytosis, anemia, and an increased ESR.
  2. Diagnosis and treatment
    • Ewing's sarcoma can be distinctly characterized radiologically with its lamellated appearance or "onion skin" periosteal reaction.
    • This lesion is usually lytic, central, and accompanied by endosteal scalloping. The "onion-skin" appearance is often followed with a "moth-eaten" or mottled appearance and extension into soft tissue.
    • Treatment includes surgery, radiation, and multi-drug chemotherapy. Radiation or chemotherapy is used preoperatively.
  3. Osteoid osteoma
    • It most commonly affects the proximal femur but can also involve other long bones and the spine.
    • Patients develop increasing pain that worsens at night without relation to physical activity.
    • Pain is typically relieved with NSAIDs, and this is strongly suggestive of the diagnosis.
    • Children may develop focal tenderness, deformities, or swelling.
    • Plain x-rays of the leg show the typical small, round lucency with sclerotic margins and sometimes central ossification.
    • NSAIDs can be prescribed for symptomatic relief, and patients should be followed with serial examination and x-rays every 4-5 months to monitor the lesion.
    • Surgical resection is typically reserved for patients with refractory symptoms.
    • Most lesions spontaneously resolve over several years.
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  4. Clubfoot
    • Suspect clubfoot (talipes equinovarus) in a patient who presents with equinus and varus of the calcaneum and talus, varus of the midfoot, and adduction of the forefoot.
    • This is a common foot deformity and may be congenital, teratologic, or positional.
    • 1.Congenital cases are usually isolated, idiopathic cases.
    • 2.Teratologic cases are associated with a neuromuscular disorder or a complex syndrome.
    • 3.Positional cases occur due to abnormal positioning of the affected foot in utero.
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  5. Management of Clubfoot
    • Initial treatment involves nonsurgical methods (e.g., stretching and manipulation of the foot, followed by serial plaster casts, malleable splints, or taping) because conservative treatment corrects the majority of cases.
    • Untreated cases result in further deformation, abnormal gait, and development of ulcerations.
    • The condition should be managed immediately (same day). Any delay would result in permanent damage.
    • Operative management is indicated if conservative management gives unsatisfactory results. It is preferably performed between 3 and 6 months of age, but always before 12 months.
  6. Screening For Development Dysplasia of Hip
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  7. Complications of DDH
    • Developmental dysplasia of the hip (DDH) is the dislocation of the femoral head from the acetabulum.
    • Early diagnosis is critical as treatment initiation before age 6 months portends a favorable prognosis.
    • Delayed diagnosis is one of the most common reasons for malpractice suits against pediatricians due to potential complications such as limp (Trendelenburg gait), scoliosis, arthritis, and avascular necrosis.
  8. Workup of DDH
    • Although breech presentation, female sex, white ethnicity, and family history of DDH increase the risk, most patients (75%) have no risk factors.
    • Therefore, all infants must have serial hip examinations from birth until they are walking (age 1 year).
    • Hip laxity that is present at birth usually resolves by age 2 weeks. Therefore, imaging is not recommended until 2 weeks.
    • Infants age 2 weeks-6 months with abnormal examination should undergo ultrasonography. DDH is bilateral in around 20% of patients and thus both sides should be imaged.
    • X-ray is not helpful until age 4-6 months because the femoral head and acetabulum are not yet ossified. After ossification, x-ray is better at showing acetabular development and positioning.
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  9. Barlow and Ortolani maneuvers
    • These maneuvers should be performed to assess joint stability.
    • These consist of placing the infant supine with each hip flexed to 90° followed by abduction to feel for dislocatability and adduction to feel for reducibility of an unstable joint.
    • A palpable clunk with either maneuver is an alarming sign of hip dislocation and should prompt referral to an orthopedic surgeon.
    • Equivocal signs such as a soft click, leg-length discrepancy, or asymmetric inguinal skin folds suggest possible hip laxity.
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  10. Management of DDH
    • A positive Barlow or Ortolani test or abnormal imaging results should prompt referral for treatment.
    • The Pavlik harness is a splint that holds the hip in flexion and abduction while preventing extension and adduction, which can exacerbate dislocation.
    • It is the treatment of choice for age less than 6 months as most hip joints are able to remain in a stable position.
    • After age 6 months, however, the harness is far less successful and reduction under anesthesia is required.
    • Computed tomography and magnetic resonance imagingcan be helpful in the perioperative assessment of the affected hip but are unnecessary for initial screening.
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  11. Atlantoaxial instability
    • It is a malformation seen in Down syndrome
    • It commonly occurs due to excessive laxity in the posterior transverse ligament, which causes increased mobility between the atlas (C1) and the axis (C2).
    • Symptoms result from compression of the spinal cord.
    • Presenting symptoms include behavioral changes, torticollis, urinary incontinence, and vertebrobasilar symptoms such as dizziness, vertigo, and diplopia.
    • On examination, upper motor neuron symptoms such as leg spasticity, hyperreflexia, a positive Babinski sign, and clonus are often present.
  12. Management of atlantoaxial Instability
    • Atlantoaxial instability is suspected on physical examination and diagnosed with lateral radiographs of the cervical spine in flexion, extension, and in a neutral position.
    • Open mouth radiographs can also be helpful in visualizing the odontoid.
    • Treatment consists of surgical fusion of the first cervical vertebrae (C1 ) to the second (C2).
  13. Serum sickness-like reaction
    • 1. Etiology
    • Antibiotics (beta -lactams, sulfa drugs, cotrimoxazole) most common
    • 2. Clinical features
    • • Fever, urticaria with no mucosal invilvement & polyarthralgia 1-2 weeks after Penicillin therapy
    • • Headache, edema, lymphadenopathy & splenomegaly less common
    • 3. Laboratory findings:
    • Nonspecific hypocomplementemia and elevated inflammatory markers (erythrocyte sedimentation rate, C-reactive protein), which are consistent with any type III hypersensitivity reaction.
    • 4. Treatment
    • • Remove/avoid offending agent
    • • Steroids for severe cases
    • 5. Prevention
    • Although serum sickness-like reaction is not a true allergy, the offending agent should be avoided in the future to prevent recurrence.
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  14. Scarlet fever
    • It presents with fever and a scarlatiniform "sandpaper" rash sparing hand and foot, following streptococcal pharyngitis.
    • Neither urticaria nor arthralgia is associated with scarlet fever.
    • Other clinical features: fever, "strawberry tongue," rash, cervical lymphadenopathy
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  15. Growing pains
    • They are a common musculoskeletal complaint in children, occurring in approximately 10%-30% of children age 2-12 years.
    • The etiology of growing pains is unknown, but they are unrelated to growth, despite their name.
    • The diagnosis of growing pains can be made clinically in the absence of systemic symptoms and abnormal examination findings. Laboratory studies and radiographs are not necessary.
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  16. Osteosarcoma
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  17. Kawasaki disease (KD)
    • It is an acute vasculitis of small and medium arteries. Peak age at presentation is 18-24 months.
    • Almost all cases occur in children age less than 5 years and rarely in adults.
    • The persistent release of proinflammatory cytokines causes a prolonged high fever (minimally responsive to antipyretics), irritability, and systemic inflammation.
    • The incidence of KD is greatest among children of East Asian ethnicity
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  18. Diagnosis Of Kawaski Disese
    • It is based on clinical presentation.
    • The patient should have fever for more than 5 consecutive days as well as 4 of the following 5 findings:
    • 1. Conjunctivitis: bilateral, nonexudative, spares limbus
    • 2. Oral mucosal changes: erythema, fissured lips, "strawberry tongue"
    • 3. Rash
    • 4. Extremity changes: erythema, edema, desquamation of the hands and feet, usually the last manifestation
    • 5. Cervical lymphadenopathy: more than 1.5 cm, usually unilateral, least consistent finding (present in 25%-50% of patients)
    • 6. Supporting laboratory evidence can include the following:
    • • Elevated C-reactive protein and erythrocyte sedimentation rate
    • • Leukocytosis with neutrophilia (as opposed to lymphocytosis in viral infections)
    • • Reactive thrombocytosis
    • • Sterile pyuria on urinalysis
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  19. Hand, foot, and mouth syndrome
    • It is a contagious pediatric infection caused by coxsackieviruses.
    • Children have fever, oral vesicles on the buccal mucosa and tongue and small, tender cutaneous lesions on the palms and soles.
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  20. Treatment of Kawasaki Disease
    • Treatment with aspirin and intravenous immunoglobulin should be started within 10 days of fever onset to decrease the risk of complications.
    • Both aspirin and intravenous immunoglobulin serve to reduce systemic inflammation, and aspirin also has antithrombotic properties.
    • Aspirin is typically avoided in children due to the risk of Reye syndrome.
    • However, aspirin is the mainstay of therapy for preventing coronary thrombosis, and caregivers should be warned about this possibility.
  21. Differential Diagnosis for a lytic bone lesion in a child
    • It is broad, includes
    • 1. Infectious (Brodie abscess from osteomyelitis),
    • 2. Endocrine (hyperparathyroid osteitis fibrosa cystica),
    • 3. Neoplastic (Ewing sarcoma, Langerhans cell histiocytosis, metastases) and
    • 4. Idiopathic (benign bone cyst, aneurysmal bone cyst) etiologies
  22. Langerhans cell histiocytosis (LCH, Langerhans cell granulomatosis, histiocytosis X)
    • It is known to cause solitary, lytic, long bone lesions.
    • Eosinophilic granuloma, the least severe form of histiocytosis X, generally presents in children and young adults as a solitary bone lesion.
    • This lesion may be painful, have overlying tender swelling, and cause pathological fractures.
    • Though these tumors can be locally destructive, they typically resolve spontaneously and are therefore regarded as benign and treated conservatively
  23. Legg-Calve-Perthes disease (LCP)
    • It is a syndrome of idiopathic osteonecrosis (avascular necrosis) of the femoral head.
    • It classically affects boys age 4-10 years, with peak incidence at age 7 years.
    • The etiology for LCP is unclear, but in some patients underlying thrombophilia may be a predisposing factor.
  24. Legg Calve Perthes Disease
    • 1. Clinical Presentation: mild chronic hip or knee pain of insidious onset as well as an antalgic gait (shorter time weight bearing on the affected side due to pain).
    • 2. Diagnosis: requires a high index of suspicion as initial x-rays may be negative. Persistent symptoms should prompt clinicians to repeat imaging as it can take months for concerning changes to appear on x-ray.
    • As the disease progresses, internal rotation and abduction at the hip joint can become markedly limited. Proximal thigh atrophy may also be present.
    • 3. X-ray : shows a flattened and fragmented left femoral head.
    • 4. Magnetic resonance imaging and bone scans: can show subtle femoral head necrosis weeks to months earlier than x-rays and may be helpful to aid in early diagnosis.
    • 5. Treatment: is aimed at maintaining the femoral head within the acetabulum via splinting or surgery. Patients should refrain from weight-bearing activities.
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  25. Clinical Manifestations of Lyme Disease
    • Lyme disease is caused by Borrelia burgdorferi, a spirochete carried by the deer tick (Ixodes scapularis), and causes disseminated infection by hematogenous spread and migration into various tissues.
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  26. Diagnosis and Management Of Lyme Disease
    • Untreated early localized disease can progress to an inflammatory monoarticular or asymmetric oligoarticular arthritis, most commonly involving the knee.
    • Synovial fluid shows an inflammatory profile with an average leukocyte count of 25,000/cumm; Gram stain and culture are usually negative, although polymerase chain reaction (done for investigative purposes) may demonstrate B burgdorferi DNA.
    • Diagnosis can be confirmed with serum ELISA and Western blot testing.
    • Oral doxycycline or amoxicillin is first-line treatment for Lyme arthritis in the absence of concurrent neurologic manifestations.
  27. Metatarsus adductus (MA)
    • It is the most common congenital foot deformity
    • It is characterized by medial deviation of the forefoot with a normal neutral position of the hindfoot.
    • This deformity is usually bilateral and occurs most frequently in first-born infants, likely due to the crowded positioning in a smaller, primigravid uterus.
    • Over 90% of cases are characterized by flexible feet that overcorrect both passively and actively into lateral deviation (abduction).
    • This most common form of MA corrects spontaneously; therefore, treatment is usually unnecessary.
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  28. Radial head subluxation (nursemaid's elbow)
    • It is one of the most common elbow injuries in children age 1-5.
    • It occurs when infants OR children are lifted or pulled by the hand OR arm.
    • Pulling causes axial traction on the forearm, which causes the radial head to slip through parts of the annular ligament.
    • Physical examination should show no swelling or angular deformity, although the radial head may be mildly tender.
    • The child typically keeps the affected arm in a pronated position; attempted forearm supination will be resisted and cause the child to cry out in pain. While pressure is applied at the radial head, forearm hyperpronation or supination plus flexion usually reduces the annular ligament with an audible click.
    • Either maneuver should restore full, normal use of the extremity.
    • The response to reduction is diagnostic of this condition.
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  29. Osgood- Schlatters Disease (Traction Apophysitis)
    • It is a common cause of knee pain, particularly in adolescent male athletes.
    • During early adolescence (typically ages 13-14 for affected males, and ages 10-11 for affected females), there are periods of rapid growth in which the quadriceps tendon puts traction on the apophysis of the tibial tubercle where the patellar tendon inserts.
    • This traction apophysitis is worsened by sports that involve repetitive running, jumping, or kneeling, and it improves with rest.
    • On physical examination, there is edema and tenderness over the tibial tubercle. A firm mass can sometimes be felt due to heterotopic bone formation. Pain can be reproduced by extending the knee against resistance.
    • Radiographic findings are nonspecific and include anterior soft tissue swelling, lifting of tubercle from the shaft, and irregularity or fragmentation of the tubercle.
    • Treatment consists of activity restriction, stretching exercises, and non-steroidal anti-inflammatory medications.
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  30. Osteogenesis imperfecta
    • It is an inherited connective tissue disorder caused by a mutation in the genes coding for type I collagen.
    • It is due to autosomal dominant mutation of COL1A1.
    • The disorder has a varying spectrum of severity, from mild (type 1), moderate (types III-IX), to fatal perinatal (type II) disease.
    • Since type I collagen is an important structural protein that is present in the skin, sclera, bone, tendon and ligament.
    • Patients with this disorder present with multiple recurrent fractures due to osteopenia, blue sclera, joint laxity, Easy Bruisibility, Hearing loss, Hypotonia, short stature, and scoliosis.
    • Many patients with also have dentinogenesis imperfecta, an opalescent blue-gray to yellow-brown discoloration caused by discolored dentin shining through the translucent and weak enamel.
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  31. Marfan syndrome
    • It is caused by mutation of the fibrillin-1 gene.
    • Its mode of inheritance is autosomal dominant.
    • The common features of this disorder include skeletal manifestations (e.g., arachnodactyly, hypermobility of joints), ectopia lentis, and aortic root dilatation.
  32. Congenital Syphillis
    • Early manifestations of congenital syphilis include jaundice, rash, lymphadenopathy, rhinitis and hepatosplenomegaly.
    • Late manifestations occur around two year of age; these include saber shins, keratitis, Hutchinson's teeth, saddle-nose deformity and deafness.
  33. Acute Rheumatic Fever
    • It is a complication of untreated group A streptococcal pharyngitis, which usually precedes the onset of rheumatic fever by 2-4 weeks.
    • ARF is diagnosed clinically using the Jones criteria, which are split into major and minor criteria (Table).
    • The diagnosis is based on evidence of a preceding group A streptococcal infection along with 2 major criteria, or 1 major plus 2 minor criteria.
    • Supportive laboratory findings include a positive streptococcal antigen test or elevated antistreptolysin 0 titer.
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  34. Slipped capital femoral epiphysis (SCFE)
    • It is characterized by displacement of the femoral head on the femoral neck due to disruption of the proximal femoral growth plate.
    • It is commonly seen in obese adolescent boys than girls.
    • The physis (i.e., physical junction between the femoral head and neck) weakens during early adolescence because it is rapidly expanding and primarily composed of cartilage, which does not possess the strength of bone.
    • When exposed to excessive shear stress, which is magnified by obesity, the physis fractures and the femoral head slips posteriorly and medially relative to the femoral neck.
    • Additional risk factors include endocrinopathies (eg, hypothyroidism. growth hormone deficiency), renal failure, and radiation history.
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  35. Clinical Presentation and Management of Slipped Capital Femoral Epiphysis
    • Patients typically present with dull hip or referred knee pain of insidious onset that causes limping.
    • Diagnosis requires a high degree of clinical suspicion because knee pain (referred pain), not hip pain, is a common presenting complaint with this condition.
    • Physical examination shows loss of abduction and internal rotation of the hip as well as external rotation of the thigh while the hip is being flexed.
    • A frog-leg, AP view, Lateral-view x-ray of the hip is the diagnostic imaging technique of choice and shows posteriorly and inferiorly displaced femoral head.
    • Patients with SCFE should be promptly treated with surgical screw fixation of the slipped epiphysis where it lies (i.e., in situ) in order to lessen the risks of avascular necrosis of the femoral head and chondrolysis.
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  36. Elbow fractures
    • They account for over half of all fractures in children, and the most common type is a supracondylar humerus fracture.
    • These injuries occur most commonly in children ages 2-12 years old.
    • The typical history usually consists of a fall onto an outstretched arm with the elbow extended.
    • Radiographs often show a large or triangular anterior fat pad (lucency) and the presence of a posterior fat pad (lucency) sign.
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  37. Compartment syndrome
    • It is characterized by severe pain, pallor, poikilothermia, paresthesias, and the late findings of pulselessness and paralysis.
    • Patients with predisposing injuries should be continually monitored for the development of compartment syndrome, particularly as swelling from the injury increases.
    • Initial treatment includes removal of any bandages, measurement of compartment pressures, and emergent orthopedic evaluation for possible fasciotomy.
  38. Congenital muscular torticollis (CMT)
    • CMT is a postural deformity that typically presents between age 1-6 months with limited range of motion of the neck.
    • Physical examination may reveal a palpable, well circumscribed mass that does not transilluminate in the inferior portion of sternocleidomastoid muscle.
    • Risk factors for CMT are related to crowding in the uterus, such as multiple gestation, breech positioning, and oligohydramnios.
    • Associated conditions, which are also likely related to intrauterine positioning, include developmental dysplasia of the hip, metatarsus adductus, and clubfoot.
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  39. Treatment Strategy for Congenital Muscular Torticollis
    • Treatment strategies include positioning (eg, increased tummy time), passive stretching, and physical therapy. Missed or delayed diagnosis may lead to craniofacial asymmetry.
    • Flattening of the head with ipsilateral anterior displacement of the ear and forehead, known as positional plagiocephaly, is also a common consequence of CMT.
  40. Transient synovitis
    • It is the most common cause of hip pain in children, typically occurring in boys age 3-10 years.
    • The cause is unknown but usually follows a viral infection or mild trauma.
    • Synovial inflammation leads to pain, decreased range of motion, and limping.
    • On examination, the affected hip is typically flexed, slightly abducted, and externally rotated. This position maximizes the joint space, thereby providing some pain relief.
    • Treatment consists of rest and nonsteroidal anti inflammatory medications (NSAIDs).
  41. Features of septic arthritis of the hip
    • • Fever more than 38.5 degree celcius (101 F)
    • • Inability to bear weight
    • • White blood cell count more than 12,000/ cu mm
    • • Erythrocyte sedimentation rate more than 40 mm/h
    • • C-reactive protein more than 2 mg/dl (20 mg/L)
    • Patients who are ill-appearing, febrile, or have more than 3 or 4 findings listed above should undergo immediate arthrocentesis and intravenous antibiotics.
  42. Trendelenburg sign
    • It a drooping of the contralateral pelvis that occurs when the patient stands on one foot.
    • The associated Trendelenburg gait is waddling in quality, caused by the trunk's rocking to compensate for this pelvic drooping during the stance phase of gait.
    • Normally, the gluteus medius and gluteus minimus muscles, which are both innervated by the superior gluteal nerve, function to abduct the thigh at the hip when standing on one foot or during normal ambulation when the body's weight rests on only one foot.
    • Weakness of these muscles, as can occur in neuromuscular disease, impingement of or trauma to the superior gluteal nerve, or inflammatory myopathies, results in a positive Trendelenburg sign and gait.
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  43. Vitamin D Deficiency rickets
    • Clinical manifestations typically appear after several months of deficiency.
    • X-ray findings include genu varum (blue arrows) in weight-bearing children, enlargement of the costochondral joints, and metaphyseal cupping and fraying.
    • Treatment consists of vitamin D repletion with 1000-2000 IU daily.
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  44. Vitamin D Deficiency
    • The primary source of vitamin D is sunlight.
    • People with dark skin pigmentation are at increased risk of vitamin D deficiency because melanin is a natural sunblock and prevents ultraviolet rays from reaching the skin for vitamin D synthesis.
    • However, infants of all ethnicities are typically shielded from direct sunlight due to the risk of sunburn and skin cancer, making dietary intake the chief source of vitamin D.
    • Although breast milk is the gold standard of nutrition for children age less than 1 year, breast milk alone does not have adequate vitamin D.
    • Homemade baby food is also inadequate. Therefore, infants who do not ingest fortified baby food or formula should receive vitamin D supplementation of 400 IU daily to prevent rickets.
  45. Trochanteric bursitis
    • It is inflammation of the bursa surrounding the insertion of the gluteus medius onto the femur's greater trochanter.
    • Excessive frictional forces secondary to overuse, trauma, joint crystals, or infection are responsible.
    • Patients with this condition complain of hip pain when pressure is applied (as when sleeping) and with external rotation or resisted abduction.
  46. Bursa Around the knee joint
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  47. Prepatellar bursitis "housemaid's knee"
    • It is common in occupations requiring repetitive kneeling, such as concrete work, carpet laying, and plumbing.
    • While bursitis in other locations is generally noninfectious, acute prepatellar bursitis is very commonly due to Staphylococcus aureus, which can infect the bursa via penetrating trauma, repetitive friction, or extension from local cellulitis.
    • Diagnosis should be confirmed with aspiration of bursal fluid for cell count and Gram stain.
    • If Gram stain and culture are negative, patients may be managed with activity modification and nonsteroidal anti-inflammatory drugs. Otherwise, patients are treated with drainage and systemic antibiotics.
  48. Fracture Clavicle
    • Majority of clavicular fractures occur in the middle third of the bone.
    • Injury to this bone classically occurs during athletic events and follows a fall on an outstretched arm or a direct blow to the shoulder.
    • Patients with clavicular fractures present with pain and immobility of the affected arm.
    • The contralateral hand is classically used to support the weight of the affected arm. The shoulder on the affected side is displaced inferiorly and posteriorly.
    • A careful neurovascular exam should accompany all fractures to the clavicle due to its proximity to the subclavian artery and brachial plexus.
  49. Compartment syndrome (CS)
    • It can be caused by direct trauma or prolonged compression of an extremity or after revascularization of an acutely ischemic limb.
    • Patients typically have excruciating pain that is worsened on passive range of motion and does not respond well to narcotics.
    • Paresthesia from sensory nerve ischemia is usually an early finding. Neurologic deficits (eg, sensory loss, motor weakness) may be present but develop later in the course of the disease. Pallor is the result of arterial occlusion but is uncommon. Similarly, arterial pulses are present especially in early stages of CS.
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  50. Diagnosis and Management of Compartment Syndrome
    • Diagnosis can be confirmed by measuring compartment pressures in the affected extremity.
    • However, in high-risk patients (eg, those with limb revascularization) who develop symptoms suggestive of CS (pain, swelling, sensory loss), the diagnosis may be made on clinical grounds alone.
    • Time to fasciotomy is the most critical prognostic indicator and should be performed without delay.

Card Set Information

Author:
Ashik863
ID:
334734
Filename:
USMLE Rheumatology IV
Updated:
2017-10-07 14:45:59
Tags:
Whipple Disease Ewing Sarcoma
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Description:
Ewing sarcoma, osteosarcoma
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