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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
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... precursor protein mutations ... Presenilin 1 and 2 gene mutations
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome Clinical Syndrome: • Common Clinical Features: alveolitis, ear and
Somatic) Syndrome Clinical ... Syndrome: • Common Clinical ... Features: • somatic mutations ... ubiquitylation • mutations
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Pathogenesis and clinical ... findings • Sporadic mutation ... • Inherited mutation
Hobnail variant of PTC: micropapillary architecture, dense eosinophilic cytoplasm, hobnail cells with apical nuclei, and marked
TERT promoter mutations ... Carcinoma #Pathology #Clinical
Gaucher Disease Pathophsiology • Lysosomal storage disorder • Deficiency of ß-glucocerebrosidase • Accumulation of glucosylceramide in macrophages Diagnosis
ß-glucocerebrosidase activity • Mutation ... in GBA1 gene Clinical
Myoclonus-Dystonia on Physical Exam Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
dominant (SCGE Gene mutation ... patient had NO SCGE mutation ... #PhysicalExam #clinical
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 Myoclonus-Dystonia on Physical Exam Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
dominant (SCGE Gene mutation ... patient had NO SCGE mutation ... #PhysicalExam #clinical
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 X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... arises via sporadic mutation ... Predisposition -> Mutation
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
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