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
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #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 ... / Symptoms / Complications ... Areflexia (loss of normal ... leg reflexes) ... #MSK #pathophysiology
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... checked for red reflex ... This reflex is not ... #Examination #Peds
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
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
• Symptoms and signs ... decreased muscle tone ... MCTD, Sjogren syndrome ... reflexes: Areflexia ... disorders #diagnosis #neurology
Anorexia Nervosa: Complications
CARDIAC ABNORMALITIES
 - Functional: Low BP, Sinus bradycardia, prolonged QT interval
 - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... suppression - Low-Normal ... Osteoporosis - Low bone ... #pathophysiology ... #diagnosis #signs
Bulimia Nervosa: Complications
GASTROINTESTINAL
 • Dehydration & inability to digest food -> Constipation
 • Recurrent vomiting exposes
inflammation -> Acid reflux ... • Boerhaave syndrome ... hormone levels cause bones ... #pathophysiology ... #diagnosis #signs