29 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... 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
Pathogenesis and Clinical ... In face, hands distal ... MCPs and feet distal ... CREST #Syndrome #Pathophysiology ... #Diagnosis #Signs
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... Headache • Decr visual ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Pathogenesis and clinical ... Retinoblastoma Signs ... - Decreased visual ... Retinoblastoma #pathophysiology ... ophthalmology #diagnosis #signs
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... Brudzinski's sign ... While the pathophysiology ... #Meningitis #Clinical ... PhysicalExam #Pediatrics #Peds
Polyarteritis Nodosa (PAN): Pathogenesis and Clinical Findings

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

- Predisposing Factors:  Immunocompromised state, diabetes, elderly, female
Pathogenesis and Clinical ... of bladder or distal ... causing symptoms Signs ... UrinaryTractInfection #LUTI #Pathophysiology ... #Signs #Symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... body dementia - Visual ... (parkinsonian signs ... hyperorality, - 25% genetic