9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... /Complications: ... Infertility • Decr Bone ... #genetics #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
gene mutated in all ... Retinoblastoma Signs ... / Symptoms / Complications ... partial retinal red reflex ... Retinoblastoma #pathophysiology
The Neurological Evaluation of a Comatose Patient

Definition:
 • Coma: a state of unresponsiveness; the absence of
Unresponsive wakefulness syndrome ... • Locked-in syndrome ... • Mutism Pathophysiology ... • Examine for signs ... #PhysicalExam #neurology
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... lumbar spine Signs ... / Symptoms / Complications ... of normal leg reflexes ... #MSK #pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
may precede the neurologic ... Transplantation including bone ... Etiology: • Pathophysiology ... edema visualized as ... Seizures: Treat with AEDs
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... surgery, trauma, and bone-marrow ... depressed deep tendon reflexes ... the underlying pathophysiology ... diagnosis #management #neurology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
fontanelle is also ... a late sign of ... checked for red reflex ... This reflex is not ... #Examination #Peds
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... Osteoporosis - Low bone ... mortality rates of all ... #pathophysiology ... #diagnosis #signs
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
inflammation -> Acid reflux ... • Boerhaave syndrome ... This can also lead ... #pathophysiology ... #diagnosis #signs