9 results
Duchenne Muscular Dystrophy (DMD)
The term "Muscular dystrophy" refers to a group of inherited progressive muscle disorders.
Duchenne Muscular ... Affects 1 per 3500 ... occurs due to defects ... Diagnosis #Features #Signs ... #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #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
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
(parkinsonian signs ... hyperorality, - 25% genetic ... Frontal atrophy Vascular ... Workup #Diagnosis #Geriatrics
Attention Deficit Hyperactive Disorder (ADHD): Pathogenesis and clinical findings
 - For diagnosis, must have either 26
level - ADHD affects ... AttentionDeficitHyperactiveDisorder #ADHD #BehavioralDisorder ... #Pathophysiology ... diagnosis #symptoms #signs
Panic Disorder: Pathogenesis and clinical findings
Social Factors
 • Parenting and infant attachment
 • Childhood illness/abuse
 •
Neurotic personality Genetics ... PanicDisorder #Anxiety #BehavioralDisorder ... #Pathophysiology ... diagnosis #symptoms #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 ... for any midline defects ... Examination #Peds #Pediatrics
Oppositional Defiant Disorder (ODD): Pathogenesis and clinical findings
 - Must have >4 symptoms for >6 months,
settings - ODD affects ... OppositionalDefiant #ODD #BehavioralDisorder ... #Pathophysiology ... diagnosis #symptoms #signs
Conduct Disorder (CD): Pathogenesis and clinical findings
 - Must have >3 symptoms present in the past
disorder - CD affects ... #Conduct #CD #BehavioralDisorder ... #Pathophysiology ... diagnosis #symptoms #signs