14 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)

#PIMSTS #Pediatrics #Inflammatory #Multisystem #Syndrome #Peds #Signs
Pediatric Inflammatory ... Multisystem Syndrome ... #Multisystem #Syndrome ... #Peds #Signs #Symptoms ... #Diagnosis
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
febrile vasculitic syndrome ... Early diagnosis ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... infection (PIMS-TS) Clinical ... #coronavirus #diagnosis ... #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Clinical Features and Complications of Measles

Rash:
Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... #Measles #Diagnosis ... Kopliks KoplikSpots #Peds ... #Pediatrics #Timeline ... #Signs #Symptoms
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 ... #diagnosis #signs ... #symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... : HLH signs and ... symptoms can mimic ... Diagnosis via genetic
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... pathophysiology #diagnosis ... #symptoms #signs ... #peds #pediatrics