9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Paradoxical Breathing on Physical Exam

Paradoxical breathing is often a sign of breathing problems. It causes the
breathing is often a sign ... It causes the chest ... #respiratory #clinical ... #video #pulmonary ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... Video by Dr. ... #Meningitis #Clinical ... #Pediatrics #Peds
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
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 ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
Tone - Hand Position on Physical Exam

A newborn baby’s hand is held in a fisted position
hand will often cause ... fisted hand is a sign ... #PhysicalExam #clinical ... #video #peds #pediatrics