Pathoma Flashcards
Pathology
Neutrophil
Structure: Multi-lobed nucleus, granules containing lysozyme, myeloperoxidase (enzyme deficiency can cause absence of bleach, but presence of respiratory burst), and hydrolytic enzymes
Functions: Acute inflammatory response
Basophil
Bilobed, nucleus with dark blue granules containing heparin, histamines, leukotrienes
Function: Allergic reaction
Eosinophil
Bilobed nucleus, pinkish granules containing major basic proteins, histamines, arylsulfatase
Function: Defend against parasitic infections, levels increased in asthma, allergic processes, neoplasm, collagen vascular diseases
Synovial Joints
Articular cartilage covers and protects articular surface of long bones, Fibrous capsule and ligament maintains position of long bones in joint.
Synovial membrane: Forms the boundary of the joint space; attached to fibrous capsule.
Synovian: Inner surface of synovial joint capsule
synovial fluid: Formed by the synovium serves to lubricate movement of articular surfaces
Osteogenesis Imperfecta
Pathophysiology: Caused by inherited mutations resulting in deficient synthesis of type 1 collagen (bone, teeth, ears, eyes, and skin). Causes cortical and trabeculae thinning.
Osteogenesis Imperfecta
Inheritance
AD
4-variants, type 2 most sever resulting in perinatal death.
Osteogenesis Imperfecta
4 Clinical manifestations
Treatment and prognosis
Multiple fractures from minimal trauma due to thinning cortical region. Blue sclerae due to translucent of connective tissue over choroids.
Hearing loss due to middle ear abnormality.
Dental imperfections
Treatment: Pneumatic bracing, avoidance of trauma.
Achondroplasia, etiology
AD, mutation in fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4
Achondroplasia
Clinical manifestation
Cartilage calcification and remodeling.
Dwarfism-Short limbs with normal trunk and narrow epiphyseal plate with short thick bones.
A 2-month-old baby boy is brought to the emergency department by his adoptive parents, who tell you that their baby has been fussy and seems to cry whenever his left arm is touched. On PE, you notice hyperactivity of the baby’s left arm. X-ray of the baby’s arm reveal multiple fractures. Radiographs of the skull, chest, and all extremities looking for evidence of other fractures. On closer of PE, no bruising of the trunk, back, buttocks, making child abuse less likely, but you do observe blue sclerae.
Osteogenesis Imperfect. Due to collagen 1 deficient.
A 15-year old boy presents to the emergency department with suspected fractures of the left tibia and fibula following a fall. He tells you that he has broken several bones in the past and that his mother has a bone disease. PE-slight hearing loss, facial asymmetry and hepatosplenomegaly. Lab-demonstrate anemia and an x-ray of his left leg shows fractures of both the tibia and fibula a well as Erleymeye last of deformity. As you set this patient’s leg in a cast, you suspect that his condition is associated with defective osteoblasts.
Osteoporosis-Dysfunction of osteoclast activity that results in defective bone resorption/ There are multiple variants. AR-fatal
AD-less severe.
Osteoporosis
Pathophysiology+ clinical manifestations
Dysfunction of the osteoclast activity, therefore abnormal bone resorption.
Clinical manifestations
- Multiple fractures
- Anemia (owning to lack of bone marrow)
- Infections
- hepatospenomegaly (owing to extramedullary hematopoiesis)
- cranial nerve palsies (blindness, deafness, and facial paralysis
- narrow neural foramina-cause nerve compression.
Clinical manifestations
- Multiple fractures
- Anemia (owning to lack of bone marrow)
- Infections
- hepatospenomegaly (owing to extramedullary hematopoiesis)
- cranial nerve palsies (blindness, deafness, and facial paralysis
- narrow neural foramina-cause nerve compression.
Osteoperosis
treatment: corticosterone or bone marrow transplant
McCune- Albright syndrome
Disorder that occurs in young girls. Manifests with cafe-au-lait spots, precocious puberty, short stature and polyostotic fibrous dysplasia (fibrous replacement of medullary bone in multiple locations.
Disorder that occurs in young girls. Manifests with cafe-au-lait spots, precocious puberty, short stature and polyostotic fibrous dysplasia (fibrous replacement of medullary bone in multiple locations.
McCune-Albright Syndrome
