746 results
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations ... BreastCancer #DNARepair #NEJM
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
Borrelia recurrentis Infection - Spirochetes were visible (arrows), a finding that suggested louseborne relapsing fever #Clinical
fever #Clinical #Pathology ... Smear #Microscopy #NEJM
Pathologic Red Blood Cell (RBC) Morphologies and Associated Diseases

Acanthocyte (spur cell),  
Basophilic stippling, 
Bite cell,
Pathologic Red Blood ... Atlas #Microscopy #Pathology ... Robbins & Cotran Pathologic
Excoriated papules with honey-colored crusting were present on the abdomen, back (Panel A), arms, and legs.
Clinical #Derm #Pathology ... Microscopy #Rash #NEJM
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
Features: • somatic mutations ... ubiquitylation • mutations ... myeloid cells NEJM
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
African Trypanosomiasis - The examination was notable for the two erythematous lesions, each measuring 3 to
Clinical #Derm #Pathology ... TrypanosomaBrucei #NEJM
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations
Hobnail variant of PTC: micropapillary architecture, dense eosinophilic cytoplasm, hobnail cells with apical nuclei, and marked
TERT promoter mutations ... Thyroid #Carcinoma #Pathology