13 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Retinoblastoma Signs / Symptoms ... • Leukocoria (absent ... Retinoblastoma #pathophysiology ... #ophthalmology ... diagnosis #signs #symptoms
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 ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
While the pathophysiology ... Brudzinski's sign may be absent ... Clinical #Video #PhysicalExam ... #Pediatrics #Peds
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology ... #ophthalmology
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... muscle weakness, absent ... than one after symptom ... the underlying pathophysiology ... Guillain #Barre #Syndrome
The Neurological Evaluation of a Comatose Patient

Definition:
 • Coma: a state of unresponsiveness; the absence of
unresponsiveness; the absence ... Unresponsive wakefulness syndrome ... • Locked-in syndrome ... • Mutism Pathophysiology ... caseyalbin #PhysicalExam
Intermittent Bilateral Exophthalmos (Alternating Exophthalmos and Enophthalmos) on Physical Exam

Observing this patient in silence for a
patient- bilateral symptoms ... The syndrome of ... clinical #video #ophthalmology ... #physicalexam #
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
may represent a syndrome ... Down syndrome is ... If absent, may be ... Newborn #Infant #PhysicalExam ... Examination #Peds #Pediatrics
Pupillary Hippus

The pupillary hippus is defined as a continuous oscillation of the pupillary diameter in the
diameter in the absence ... Its pathophysiology ... video #neurology #ophthalmology ... #physicalexam