10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... myoclonic seizure, primitive ... 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
Brudzinski’s Sign ... Brudzinski's sign ... While the pathophysiology ... #PhysicalExam #Pediatrics ... #Peds
Primitive Suck, Rooting Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect
Primitive Suck, ... Rooting Reflex on Newborn ... toes or “Babinski sign ... PhysicalExam #clinical #video ... #peds #pediatrics
Plantar Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect of the
Plantar Reflex on Newborn ... toes or “Babinski sign ... Plantar #Pyramidal #Primitive ... PhysicalExam #clinical #video ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
#OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Tone - Leg Traction on Physical Exam
Leg traction is done by holding the leg by the
on the leg is a sign ... Extremity #tone #Newborn ... PhysicalExam #clinical #video ... #peds #pediatrics
Tone - Hand Position on Physical Exam

A newborn baby’s hand is held in a fisted position
Physical Exam A newborn ... fisted hand is a sign ... #Hand #tone #Newborn ... PhysicalExam #clinical #video ... #peds #pediatrics
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