13 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 ... pathophysiology #peds ... #pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... Early diagnosis ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Problem Representation - Approach to the Infectious Disease Patient

Who: Patient age and host/risk factors (such as
the Infectious Disease ... and symptoms that ... define the clinical ... syndrome - Does ... e.g. brain and lung
Bilateral B-Lines in case of Pneumonia on Lung POCUS

Young healthy pt with fever/dyspnea. POCUS lung exam
POCUS lung exam ... disease, interstitial ... partially seen shred sign ... NOT definitively diagnose ... #POCUS #clinical
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... #diagnosis #signs ... #symptoms
Clinical manifestations of anaphylaxis. 
Neurological (<15%): Dizziness, syncope, seizures, Confusion, impending doom. headache
Angioedema: Lips, tongue, orbit,
Clinical manifestations ... Lungs and airway ... #anaphylaxis #signs ... #symptoms #diagnosis ... #criteria #allergy
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... #LiverFailure #Signs ... #Findings #Diagnosis ... #Peds #Pediatrics
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
incomplete Kawasaki Disease ... if they have no clinical ... and lab signs ( ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... effusion, Restrictive lung ... Demyelinating syndromes ... erythematosus #signs ... #symptoms #diagnosis
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
neurodegenerative disease ... • Or brainstem syndromes ... Signs and symptoms ... criteria for MS ... stimulation Clinical