37 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 ... delayed puberty -> Infertility ... pathophysiology #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
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
Rapid, increasing signs of extrapyramidal symptoms (EPS) is an important key feature of NMS. EPS, associated
Rapid, increasing signs ... extrapyramidal symptoms ... about 95% of NMS cases ... #Diagnosis #Serotonin ... NeurolepticMalignant #Comparison
Fat Embolism Syndrome
Trauma to the long bone or pelvis accounts for —9096 of cases. The diagnosis
Fat Embolism Syndrome ... accounts for —9096 of cases ... FES is a clinical ... #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 ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... endocrinology #peds #pediatrics
Anterior ischemic optic neuropathy (AION) - Recognition of giant cell arteritis (GCA)

1) Is visual loss caused
Is visual loss caused ... Clinical manifestations ... Doppler US : halo sign ... GiantCellArteritis #GCA #Rheumatology ... Ophthalmology #Diagnosis
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
high WBC count cause ... Dehydration • Symptoms ... WBC >100k, + lab signs ... #TLS #diagnosis ... #management #hematology
Cold Urticaria
Prevalence - 0.05% in the population
Disease onset - Mostly 2nd to 4th decades of life
Causes
decades of life Causes ... and clinical associations ... and duration of symptoms ... #rheumatology # ... comparison #table
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... Demyelinating syndromes ... erythematosus #signs ... #symptoms #diagnosis ... #rheumatology