20 results
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #ophthalmology ... #diagnosis #signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology ... #ophthalmology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... Infertility • Decr Bone ... #genetics #pathophysiology
Systemic Lupus Erythematosus (SLE): Musculoskeletal Manifestations

 • Immune Complex Deposition
    - Arthralgia, Arthritis
Weakness, Incr CK • Bone ... Myopathy (Also caused ... Musculoskeletal #Complications ... #pathophysiology ... #signs #symptoms
Peri-operative Hyperthermia - Guidelines for Crises in Anaesthesia
If prolonged or ≥ 39 C this is a
maintained fever CAUSES ... hyperthermia crisis (late sign ... #Differential #Causes ... #Anesthesiology ... Diagnosis #Management #Workup
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... geriatrics #diagnosis #signs
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... lumbar spine Signs ... / Symptoms / Complications ... #MSK #pathophysiology
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... Trauma to the long bone ... accounts for —9096 of cases ... Pathophysiology ... #Diagnosis #Signs
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
Hypertension - Workup ... evaluation should be done ... hypertension and signs ... renal bruit or signs ... #Hypertension #Workup
Chronic Lymphocytic Leukemia - Summary

Cancer affecting lymphocytes/Mature B cell neoplasm
 • Lymphocytes accumulate in large numbers
Physical Exam/Signs ... kinase (BTK) Complications ... • Richter’s Syndrome ... leukemia • Sezary syndrome ... Leukemia #diagnosis #workup