33 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
CREST Syndrome: Pathogenesis and Clinical Findings

CALCINOSIS (BB-sized, hard nodules in fingers)
RAYNAUD'S Phenomenon
ESOPHAGEAL DYSMOTILITY
SCLERODACTYLY (thickening and tightening
In face, hands distal ... MCPs and feet distal ... CREST #Syndrome #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... /Symptoms: - Fever ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs ... / Symptoms / Complications ... - Decreased visual ... Retinoblastoma #pathophysiology ... #symptoms
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Headache • Decr visual ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Lower Urinary Tract Infection: Pathogenesis and Clinical Findings

- Predisposing Factors:  Immunocompromised state, diabetes, elderly, female
of bladder or distal ... epithelium and causing symptoms ... Signs/Symptoms ... UrinaryTractInfection #LUTI #Pathophysiology ... #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Otitis Media: Complications
Infection and inflammation of the middle ear
 - Prolonged obstruction of e. tube
middle ear - Distal ... becomes more severe Signs ... /Symptoms/Complications ... Complications #pathophysiology ... #symptoms #signs
Polyarteritis Nodosa (PAN): Pathogenesis and Clinical Findings

Medical Comorbidities Malignancies (most commonly hairy-cell leukemia)
Immunogenetic Predisposition: patient is
sensory changes: Distal ... PolyarteritisNodosa #Pathophysiology ... #Diagnosis #Signs ... #Symptoms #Vasculitis
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... / Symptoms / Complications ... • Rizutti's Sign ... #Keratoconus #pathophysiology