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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

Crusted Scabies - Physical examination now revealed a generalized erythematous and scaly rash with intense hyperkeratotic

Microscopic examination ... CrustedScabies #Scabies #Microscopy ... #NEJM

Excoriated papules with honey-colored crusting were present on the abdomen, back (Panel A), arms, and legs.

mite under light microscopy ... Pathology #Scabies #Microscopy ... #Rash #NEJM

Borrelia recurrentis Infection - Spirochetes were visible (arrows), a finding that suggested louseborne relapsing fever #Clinical

Recurrentis #Smear #Microscopy ... #NEJM

Auer Rods - Bone marrow aspiration revealed 5% blasts and 65% promyelocytes; many promyelocytes had prominent

AcutePromyelocyticLeukemia #Smear #Microscopy ... #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

Pathology #Smear #Microscopy ... 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

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