Genetic Disorders and Bone Diseases

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Questions and Answers

What is the genetic abnormality associated with Ewing's sarcoma?

RB germline mutation

FGFR3 receptor mutation

EWSR1 gene mutation (correct)

Collagen type 1 defect

Which clinical presentation is characteristic of Osteogenesis Imperfecta?

Mass lesion in bone

Blue sclera (correct)

Enlarging hat size

Young person with joint pain

Which of the following conditions is associated with a carbonic anhydrase mutation?

Osteoporosis

Achondroplasia

Osteopetrosis (correct)

Paget's disease

What is the common laboratory diagnostic tool used for osteoporosis?

DEXA scan Signup and view all the answers

Which abnormal lab finding is typically associated with renal osteodystrophy?

Elevated parathyroid hormone Signup and view all the answers

Which of the following is a common clinical feature of osteosarcoma?

Fractures with minimal trauma Signup and view all the answers

What is the pathophysiological abnormality linked to achondroplasia?

FGFR3 receptor mutation Signup and view all the answers

Which type of arthritis is characterized by acute onset joint pain and may require urgent treatment?

Gout Signup and view all the answers

Which clinical presentation is specifically associated with Duchenne Muscular Dystrophy (DMD)?

Waddling gait Signup and view all the answers

What is the genetic abnormality commonly associated with Becker Muscular Dystrophy (BMD)?

Dystrophin gene mutation Signup and view all the answers

Which of the following is a diagnostic lab test for Duchenne Muscular Dystrophy (DMD)?

Western blot for dystrophin Signup and view all the answers

What is the histopathologic feature associated with gout when viewed under polarized light?

Birefringent crystals Signup and view all the answers

Which of the following conditions is associated with Reiter’s syndrome?

Gastrointestinal infections Signup and view all the answers

Which of the following is not typically included in the diagnostic approach for muscle pathology?

Solid organ imaging Signup and view all the answers

What are the distinguishing signs of dermatomyositis compared to polymyositis?

Skin rashes Signup and view all the answers

Which association indicates a potential connection between cancer and muscle pathology?

Myasthenia Gravis with thymoma Signup and view all the answers

Study Notes

Bone, Joint, and Muscle Pathology Review

This review covers bone, joint, and muscle pathologies.
Developmental and metabolic bone diseases are a high-yield topic.

Developmental and Metabolic Bone Diseases

Paget's disease
Osteopetrosis
Osteoporosis
Achondroplasia
OI (Osteogenesis Imperfecta)
Vitamin D and C deficiencies

Developmental and Metabolic Bone Diseases - Common Entities

Pertinent pathophysiology abnormalities (e.g., collagen type 1 defect in osteogenesis imperfecta, FGFR3 receptor in achondroplasia, carbonic anhydrase mutation in osteopetrosis) are key.
Clinical presentation includes features like enlarging head size or ring size in Paget's, blue sclera in OI, and rickets features.

Developmental and Metabolic Bone Diseases - Diagnostic Labs

Diagnostic labs include, for example, those related to renal osteodystrophy and Paget's disease.
DEXA scans are used for osteoporosis.
Radiologic/pathologic images are important, but only those covered in the lectures should be focused on.
Example imaging features include sunburst and Codman's triangles in osteosarcoma, and appearance and workup of metastatic bone lesions.

Tumors and Infections of Bone

Osteoid osteoma/osteochondroma/enchondroma
Wilms tumor
Osteosarcoma
Fibrosarcoma
Ewing's sarcoma
Metastatic tumors
Osteomyelitis

High Yield Topics - General Information

Critical information about each high yield topic is provided at the beginning of each respective section in the presentation.
Pertinent pathophysiology and unique genetic abnormalities (like RB germline mutation in osteosarcoma or EWSR1 gene mutations in Ewing's sarcoma) are highlighted.
Clinical presentations (e.g., young person, fracture with minimal trauma, and mass lesion in osteosarcoma) are included.
The diagnostic lab includes specific relevant tests (e.g., biopsy for benign/malignant tumors, radiographs, histopathology).

High Yield for Joint Pathology

Osteoarthritis (DJD) and rheumatoid arthritis (RA)
Seronegative arthropathies
Gout and pseudogout
Septic arthritis

Joint Pathology - Further Details

Genetic abnormalities are important, like HLA-B27 in ankylosing spondylitis.
Clinical presentation details are given (e.g., acute onset joint pain in gout, morning stiffness in RA).
Diagnostic labs and images are crucial (e.g., CCP for RA, birefringence in gout/pseudogout).

Muscle Pathology

Innervation and reinnervation
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)
Congenital myopathy
Inflammatory myopathies
Mitochondrial myopathies

Muscle Pathology - Specific Details

Genetic abnormalities (e.g., dystrophin gene in DMD/BMD), clinical presentations (e.g., waddling gait, calf hypertrophy in DMD), appropriate labs (e.g., dystrophin stain in muscle biopsy), and relevant pathology images are essential.

Stems, Images, and Labs

Age, history of present illness (HPI), physical findings, and radiographic/histopathologic images (essential for solidifying your differential diagnosis and final diagnosis).
Lab results - normal or abnormal, aiding in diagnosis.

Summary of Study Advice

Focus on the big-picture common diseases in each category.
Avoid minutiae, detailed physiology, treatment specifics, bone marrow, solid organ, or whole-mount imaging.
Trimmed content may be distractors and should be reviewed.

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Description

This quiz covers various genetic abnormalities and clinical presentations related to bone diseases and disorders. Questions include details about Ewing's sarcoma, Osteogenesis Imperfecta, and other related conditions. Test your knowledge on the pathophysiological aspects and diagnostic tools associated with these conditions.