8232 results
video pocus physicalexam cardiology diagnosis ultrasound echocardiogram ophthalmology neurology photo msk management ocular sign pulmonary orthopedics ekg differential ucsdh sports
Retinoblastoma - MRI • Most common intra-ocular neoplasm in children. • Clinical Presentation: leukocoria (loss of
• Clinical Presentation ... have a germline mutation ... by a germline mutation ... With germline mutations ... neuroradiology #pediatrics #radiology
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in
types 1) due to mutations ... pancreatic #cysts #mri #radiology ... #clinical
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... acid lipase is critical ... #clincial #peds ... NEJM #Wolmans #radiology
Leigh Syndrome History: 19-month-old girl with hypotonia, developmental delay, failure to thrive, and bilateral optic disc
deficiency with MTND mutation ... Leigh #Syndrome #Clinical ... Brain #Diagnosis #Radiology
Distal Renal Tubular Acidosis Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Bilateral Vestibular Schwannomas in Neurofibromatosis Type 2- ...Magnetic resonance imaging of the brain performed after the
which is caused by mutations ... #NEJM #clinical ... #radiology #MRI
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Normal Values echocardiographic ​​diastolic parameters - Velocities, Ratios and Durations #Diagnosis #Cardiology #Diastology #Normal #Parameters #Values #Diastolic
Velocities, Ratios and Durations ... #Diagnosis #Cardiology
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
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