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Musculoskeletal
FA complete review part 2 Pathology
| Question | Answer |
|---|---|
| What is Achondroplasia? | Failure of longitudinal bone growth leading to short limbs |
| What type of ossification is failed in Achondroplasia? | Endochondral ossification |
| The affectation of membranous ossification in Achondroplasia, leads to: | Large head relative to limbs |
| What gene is affected in Achondroplasia? | Fibroblast growth factor receptors 3 (FGFR3) |
| What is the role of FGFR3 when activated? | Inhibition of chondrocyte proliferation |
| What is mode of inheritance of Achondroplasia? | Autosomal dominant with full penetrance |
| What is the most common cause of dwarfism? | Achondroplasia |
| Achondroplasia is the most common cause of: | Dwarfism |
| What is associated with increased risk of Achondroplasia? | Advanced paternal age |
| What pathology is associated with advanced paternal age? | Achondroplasia |
| Is Achondroplasia associated with maternal or paternal advance age? | Paternal |
| Definition of Osteoporosis: | Trabecular (spongy) and cortical bone lose mass and interconnection despite normal bone mineralization and lab values |
| How are serum Ca2+ and PO4 -3 in Osteoporosis? | Normal leves |
| Another way to refer to trabecular bone? | Spongy bone |
| Trabecular and cortical bone loss as well interconnections, despite normal serum levels of calcium and phosphate. Dx? | Osteoporosis |
| What are the MCC of Osteoporosis? | Increased bone resorption related to decreased estrogen levels and old age |
| Osteoporosis is commonly secondary to which medications? | Steroids, alcohol, anticonvulsants, anticoagulants, thyroid replacement therapy |
| What are medical conditions that may cause Osteoporosis eventually? | Hyperparathyroidism, Hyperthyroidism, Multiple myeloma, and malabsorption syndromes. |
| How is Osteoporosis diagnosed? | 1. DEXA test check for bone density at lumbar spine, total hip, and femoral neck, with T-score of less or equal to 2.5 or, 2. Fragility fracture at hip or vertebra |
| At what age are women recommended to to SOteporiss screening? | 65 or older |
| What is the recommended prophylaxis for Osteoporosis? | Regular weight-bearing exercise and adequate Ca2+ and Vitamin D intake throughout adulthood |
| What are common treatment medications for Osteoporosis? | Bisphosphonates, teriparatide, SERMs, and rarely calcitonin; Denosumab |
| What condition is treated with Denosumab? | Osteoporosis |
| What is the MOA of Denosumab? | Monoclonal antibody against RANKL |
| Why does DEnosumab attack RANKL secreted by osteoblasts? | RANKL interacts with RANK receptors on osteoclasts and increase their activity |
| Common complication of Osteoporosis | Vertebral compression fractures |
| What is the clinical presentation of vertebral compression fractures? | Acute back pain, loss of height, and kyphosis |
| What other, rarely, fractures may be seen along with Vertebral compression fractures, in osteoporotic patients? | Femoral neck fracture and Distal Radius (Colles) fracture |
| What is the name given to a Distal Radius fracture? | Colles fracture |
| What is Osteopetrosis? | Failure of normal bone resorption due to defective osteoclasts |
| Which bone cells are defective in Osteopetrosis? | Osteoclasts |
| Description of bones in Osteopetrosis? | Thickened, dense bones that are prone to fracture |
| How can certain mutations lead to development of Osteopetrosis? | Impair ability of osteoclast to generate acidic environment necessary for boner resorption |
| What is the result of the overgrowth of cortical bone that fills marrow space in Osteopetrosis? | Pancytopenia and extramedullary hematopoiesis |
| Why are palsies commonly seen in Osteopetrosis? | Due to narrowed foramina |
| What are some consequences of the narrowed foramen in Osteopetrosis? | Cranial nerve impingement and palsies |
| What is the X-ray description of bones in Osteopetrosis? | Diffuse symmetric sclerosis |
| What are terms commonly used in X-ray findings of Osteopetrosis? | Bone-in-bone, "stone bone" |
| What is the potential treatment option for Osteopetrosis? | Bone marrow transplant |
| Defective mineralization of osteoid or cartilaginous growth plates in adults. | Osteomalacia |
| What is denomination of osteomalacia in children? | Rickets |
| What is the most common cause of Osteomalacia/rickets? | Vitamin D deficiency |
| What X-rays findings of Osteomalacia? | 1. Osteopenia 2. "Looser zones" 3. Epiphyseal widening and, 4. Metaphyseal cupping/fraying in rickets |
| What is a pathologic finding or feature of Rickets? | Bow legs (genu varum), bead-like costochondral junctions (rachitic rosary), and craniotabes (soft skull). |
| What is another name for Paget disease of bone? | Osteitis deformans |
| Definition of Paget disease of bone: | Localized disorder of bone remodeling caused by increased osteoclastic activity followed by increased osteoblastic activity that forms poor-quality bone. |
| Osteoclastic activity --> Osteoblastic activity ===> Dx? | Paget disease of bone |
| What serum level is increased in Paget disease of bone? | ALP |
| What is the most common reason for the elevation of ALP in blood levels? | Hyperactivity of osteoblasts |
| - Mosaic pattern of woven and lamellar bone - Long bone chalk-stick fractures - High-output heart failure | Features of Paget disease of bone |
| What causes the high-output heart failure in Osteitis deformans? | Increased blood flow from increased arteriovenous shunts |
| What is an important elevated risk of Paget disease of bone? | Increased risk of Osteogenic sarcoma |
| Which malignancy is commonly a higher risk of development in Paget disease of bone (osteitis deformans)? | Osteogenic sarcoma |
| What are two common complaints or patient indications that may lead to diagnosis of Paget disease of bone? | 1. Increased hat size 2. Hearing loss |
| Why is there hearing loss in Paget's disease of bone? | Due to Auditory foramen narrowing |
| What are the 4 stages of Paget disease of bone? | 1. Lytic -- OsteoClast 2. Mixed -- Osteoclast + osteoblast 3. Sclerotic -- OsteoBlast 4. Quiescent-- minical osteoclast/osteoblast activity |
| Which Paget disease of bone stage is purely osteoclast driven? | Lytic |
| What is the the 1st stage of Paget disease of bone? | Lytic |
| What cells are involved in the Sclerotic stage of Paget disease of bone? | Osteoblast |
| Minimal osteoclast/osteoblast activity describes which Paget disease of bone stage? | Quiescent |
| What is the treatment of Paget disease of bone? | Bisphosphonates |
| What is Osteonecrosis? | Infarction of bone and marrow, usually very painful |
| What is the most common site for Osteonecrosis? | Femoral head |
| Why the Femoral head the most common site for avascular necrosis? | Due to insufficiency of medial circumflex femoral artery |
| What is another way to refer to osteonecrosis? | Avascular necrosis |
| List of common causes for Osteonecrosis: | 1. Corticosteroids 2. Alcoholism 3. Sickle cell disease 4. Trauma 5. "the Bends" (Caisson/Decompression disease), 6. Gaucher disease 7. Slipped capital femoral epiphysis 8. Legg-Calve-Perthes disease |
| Is osteonecrosis a painful or painless condition? | Painful |
| Which disorder has normal lab values, only with a decreased bone mass? | Osteoporosis |
| Which is the only lab value that may be decreased in Osteopetrosis? | +/- slight decrease in serum Ca2+ |
| Dense, brittle bones. Ca2+ decrease in severe, malignant disease. Dx? | Osteopetrosis |
| Abnormal "mosaic" bone architecture. Dx? | Paget disease of the bone |
| Which serum lab value(s) are abnormal in Paget disease of bone? | Elevated ALP |
| Which are the lab values measured in common bone disorders? | Serum Ca2+, Phosphate, ALP, and PTH |
| "Brown tumors" due to fibrous replacement bone, subperiosteal thinning. | Osteitis fibrosa cystica |
| Idiopathic or PTH hyperplasia, adenoma, carcinoma. Associated with Osteitis fibrosa cystica. | Primary hyperparathyroidism |
| What is the primary lab value abnormality in Osteitis fibrosa cystica/Primary HyperPTH? | Elevated PTH |
| Which bone disorder main lab value change is an elevated/increased PTH ? | Osteitis fibrosa cystica |
| What are the changes in lab values of Osteitis fibrosa cystica/ Primary hyperPTH? | Elevated PTH, ALP, and serum Ca2+, and decreased phosphate |
| Which is the only lab value decreased in Osteitis fibrosa cystica? | Phosphate |
| Often as compensation of CKD (decreased phosphate excretion and products of activated Vitamin D). Dx? | Secondary hyperparathyroidism |
| What is the main lab value change in Secondary hyper-PTH? | Decreased serum Ca2+ |
| Which bone disorder is indicated by an decreased serum Ca2+ level as its primary change? | Secondary hyperparathyroidism |
| In Secondary hyper-PTH, which levels are elevated? | Phosphate, ALP, and PTH |
| Elevated Phosphate, ALP, and PTH + decreased serum Ca2+ + Hx of CDK. Dx? | Secondary hyperparathyroidism |
| Soft bones; vitamin D deficiency also causes secondary hyperparathyroidism. Dx? | Osteomalacia/Rickets |
| Which is the only lab value that is increased in Osteomalacia or Rickets (children)? | ALP |
| Which condition of the bones is seen with elevated ALP and decreased serum Ca2+, phosphate, and PTH? | Osteomalacia/Rickets |
| Which important lab value is normalin Hypervitaminosis D? | ALP |
| Caused by over-supplementation or granulomatous disease (sarcoidosis). | Hypervitaminosis D |
| Which lab values are elevated in Hypervitaminosis D? | Serum Ca2+ and phosphate |
| Is PTH elevated or decreased in hypervitaminosis D? | Decreased |
| What is more common, Metastatic disease to the bone or Primary bone tumors? | Metastatic disease to bone |
| List of BENIGN Primary bone tumors: | 1. Osteochondroma 2. Osteoma 3. Osteoid osteoma 4. Osteoblastoma 5. Chondroma 6. Giant cell tumor |
| What is the most common benign bone tumor? | Osteochondroma |
| What is the epidemiology of Osteochondromas? | Males < 25 years old |
| What is the location for a Osteochondroma? | Metaphysis of long bones |
| Which benign primary bone tumor is located at the metaphysis of long bones? | Osteochondroma |
| What are features or characteristics of Osteochondroma? | 1. Lateral bony projection of growth plate covered by cartilaginous cap 2. Rarely transforms to chondrosarcoma |
| An x-ray of the femoral bone shows lateral bony projections of growth plate covered by a cartilage cap in a 22 year old male patient. Dx? | Osteochondroma |
| What is the epidemiology of Osteomas? | Middle age |
| What is the common location for an Osteoma? | Surface of facial bones |
| Which benign primary tumor is found in the surface of facial bones? | Osteoma |
| What is the common associated condition with Osteoma? | Gardner syndrome |
| A person with Gardner syndrome is often seen with what primary bone tumor? | Osteoma |
| What is the approximate age in which Osteoid osteoma develop? | In adults < 25 years old |
| Are males or females, most affected with Osteoid osteoma? | Males |
| Osteoid osteoma affects mostly: | Adult male of < 25 years of age |
| What is the location for an Osteoid osteoma? | Cortex of long bones |
| Which type of primary bone tumor is found in the cortex of long bones? | Osteoid osteoma |
| What are features and clinical signs of Osteoid Osteoma? | 1. Presens as bone pain (worse at pm) that is relieved with NSAIDs 2. Bony mass (<2 cm) with radiolucent osteoid core |
| Bony mass on X-ray of a 19 year old male, that visits physician office due to severe pain at night located in the right humerus. Dx? | Osteoid osteoma |
| What medications are used to relieve or control the pain in patients with Osteoid osteoma? | NSAIDs |
| What is the location for an Osteoblastoma? | Vertebrae |
| Which primary benign bone tumor is found in the vertebrae? | Osteoblastoma |
| Osteoblastoma is malignant or benign? | Benign |
| Malignant or benign. Osteochondroma? | Benign |
| Malignant or benign. Osteoma? | Benign |
| Malignant or benign. Osteoid osteoma? | Benign |
| Malignant or benign. Chondroma? | Benign |
| Malignant or benign. Giant cell tumor? | Benign |
| Which two benign primary bone tumors have very similar histology? | Osteoid sarcoma and Osteoblastoma |
| How does Osteoblastoma differ from Osteoid osteoma? | Osteoblastoma is larger in size (> 2 cm), pain is non-responsive to NSAIDS, and located at the vertebrae. |
| Patient complains of severe pain in the "spinal column" that is not responding to ibuprofen. X-ray showed a 3 cm mass in the base of L2. Dx? | Osteoblastoma |
| What is the location of a Chondroma? | Medulla of small bones of hand and feet |
| Which primary (benign) bone tumor is found in the medulla of small bones of hand and feet? | Chondroma |
| Benign tumor of cartilage in hands and feet. | Chondroma |
| What is the epidemiology of Giant cell tumor? | 20-40 years old |
| What is the location of Giant cell tumor? | Epiphysis of long bones |
| What is the most common region in which a Giant cell tumor develops? | Knee region |
| What are features and characteristics of Giant cell tumor ? | - Locally aggressive benign tumor - Neoplati mononuclear cells that express RANKL and reactive multinucleated giant cells. "Osteoclastoma" - "Soap bubble" appearance on x-ray |
| x-ray finding. "Soap bubble" appearance in the epiphysis of a long bone (femur) near the knee? | Giant cell tumor |
| Why is Giant cell tumor often referred as "Osteoclastoma"? | Due to neoplastic mononuclear cells that express RANKL and reactive multinucleated giant (osteoclast-like) cells. |
| List of MALIGNANT Primary bone tumors: | 1. Osteosarcoma (osteogenic carcinoma) 2. Chondrosarcoma 3. Ewing sarcoma |
| What is the epidemiology of Ewing Sarcoma? | Boys < 15 years old |
| Among which ethnicity is Ewing sarcoma is most common? | Caucasian |
| What is the most common location of a Ewing Sarcoma? | Diaphysis of long bones, and pelvic flat bones |
| Which long bone is especially or more consistently affected by Ewing sarcoma? | Femur |
| What malignant bone tumor is often found in the diaphysis of long bones, especially the femur? | Ewing sarcoma |
| What other bones, besides the diaphysis of long bones, are affected by Ewing sarcoma? | Pelvic flat bones |
| Histology of Ewing sarcoma: | Anaplastic small blue cells of neuroectodermal origin (resemble lymphocytes) |
| Anaplastic small blue cells of neuroectodermal origin, that have certain resemblance to lymphocytes. Dx? | Ewing sarcoma |
| What translocation is associated with Ewing sarcoma? | t(11;22) |
| t(11;22). Dx? | Ewing sarcoma |
| What is t(11;22) ? | Fusion protein EWS-FLII |
| "Onion skin" periosteal reaction in bone | Ewing sarcoma |
| What is an important gross feature of Ewing sarcoma that is view in x-ray? | "Onion skin" periosteal reaction in bone |
| What is another name for Osteosarcoma? | Osteogenic sarcoma |
| Osteosarcoma is peak incidence of primary tumor in: | Males < 20 years |
| Osteosarcoma can be secondary to which disease or conditions? | Paget disease of bone, bone infarcts, radiation, familial retinoblastoma, and Li-Fraumeni syndrome |
| What is the location of Osteosarcoma? | Metaphysis of long bones |
| Which malignant primary tumor is often found in the metaphysis of long bones , especially in the knee region? | Osteosarcoma |
| What are features and characteristics of Osteosarcoma? | - Painful enlarging mass or pathologic fractures - Codman triangle - Pleomorphic osteoid-producing cells (malignant osteoblasts) |
| Which malignant bone tumor is associated with "malignant osteoblasts"? | Osteosarcoma |
| Histology of Osteosarcoma: | Pleomorphic osteoid-producing cells (malignant osteoblasts) |
| (+) Codman triangle. Dx? | Osteosarcoma |
| What is the Codman triangle? | Elevation of the periosteum under x-ray in Osteosarcoma |
| What feature in Osteosarcoma has a description of a "sunburst" pattern? | Codman triangle |
| What is the location of a Chondrosarcoma? | Medulla of pelvis and central skeleton |
| Which malignant primary bone tumor is located at the medulla of pelvis and central skeleton? | Chondrosarcoma |
| Tumor of malignant chondrocytes? | Chondrosarcoma |
| What is a Chondrosarcoma? | Primary tumor of malignant chondrocytes |
| List of childhood musculoskeletal conditions: | 1. Developmental dysplasia of the hip 2. Legg-Calve-Perthes disease 3. Osgood-Schlatter disease 4. Patellofemoral syndrome 5. Radial head subluxation 6. Slipped capital femoral epiphysis |
| What is Developmental dysplasia of the hip? | Abnormal acetabulum development in newborns. |
| What is the major risk for development Dysplasia of the hip? | Breech presentation |
| What are tests or maneuvers to assess developmental dysplasia of the hip? | Ortolani and Barlow maneuvers |
| Idiopathic avascular necrosis of femoral head. | Legg-Calve-Perthes disease |
| What is the presentation of Legg-Calve-Perthes disease? | Presentas between 5-7 years wit insidious onset of hip pain that may cause child to limp. |
| Is Legg-Calve-Perthes disease more common in males or females? | Males |
| What is another name for Osgood-Schlatter disease? | Traction apophysitis |
| What is Osgood-Schlatter disease? | Overuse injury caused by repetitive strain and chronic avulsion of the secondary ossification center of proximal tibial tubercle |
| Which condition of a child involves the Proximal Tibial tubercle injury due to repetitive strain and chronic avulsion? | Osgood-Schlatter disease |
| What type of athletes or exercise training lead to Osgood-Schlatter disease? | Running and jumping athletes |
| What is the most common age for Osgood-Schlatter disease? | Adolescents after growth spur |
| What is the clinical presentation of Osgood-Schlatter disease? | Progressive anterior knee pain |
| What is Patellofemoral syndrome? | Overuse injury that commonly presents in young, female athletes as anterior knee pain. |
| What is the common action for exacerbation of Patellofemoral syndrome? | Prolonged sitting or weight-bearing on a flexed knee |
| What is the treatment used for Patellofemoral syndrome? | NSAIDs and thigh muscle training |
| What is another way to refer to Radial head subluxation? | Nursemaid's elbow |
| What is a common elbow injury in children < 5 years? | Radial head subluxation |
| What is the MCC of Radial head subluxation? | Sudden pull on the arm leading to immature annular ligament slips over head of radius. |
| Injured arm held in extended/slightly flexed and pronated position. Dx? | Radial head subluxation |
| Which ligament is involved in Nursemaid's elbow? | Immature annular ligament |
| What is a classical presentation of Slipped capital femoral epiphysis? | Obese young adolescent with hip/knee pain and altered gait. |
| What is the cause of Slipped capital femoral epiphysis? | Increased axial force on femoral head leading to epiphysis displaces relative to femoral to femoral neck. |
Created by:
rakomi
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