Pathology Notes

Sepsis Updated: 06/28/2022 © Jun Wang, MD, PhD   Definition Life threatening organ dysfunction caused by a dysregulated host response to infection General features Organ dysfunction identified by acute change of 2 or more points in total SOFA score or qSOFA Likely prolonged ICU stay Relatively high mortality rate Commonly associated with infections of injury or internal organs and perforation/rupture of abdominal/pelvic structures Most commonly caused by bacterial infections, but can be caused by virus or fungi Systemic Inflammatory Response Syndrome (SIRS) A term being abandoned since 2016 Still being used clinically Poor mortality prediction comparing with Sequential Organ Failure Assessment (SOFA) Clinical responses to either infectious or non-infectious causes Sequential Organ failure Assessment (SOFA) A systemic evaluation of organ function Performed in critically ill patients with suspected sepsis Systems involved o    Cardiovascular: Blood pressure o

Serrated Polyposis Syndrome Updated: 02/28/2022 © Jun Wang, MD, PhD   General features Previously called hyperplastic polyposis syndrome More common age 50-60 Increased risk for colon rectal cancer Associated with cigarettes smoking and high BMI Increased risk of colorectal cancer Clinical presentations Usually asymptomatic Endoscopic findings of large or flat polyps Key morphological features Both adenomatous and hyperplasic changes Genetic abnormalities Overall uncommon BRAF: Type1, commonly female smokers KRAS: Type 2, RNF43 Diagnostic criteria More than 5 serrated polyps proximal to the sigmoid colon, at least 2 of these are larger than 1 cm Any serrated polyps proximal to the sigmoid colon in a patient with a first degree relative with serrated polyposis syndrome More than 20 serrated polyps of any size in the colon Treatment Polypectomy, complete removal recommended Colonoscopy every 1-3 years Surgery if treatment/surveillance inadequate First degr

Chediak-Higashi syndrome Updated: 08/03/2020 © Jun Wang, MD, PhD General features Rare Autosomal recessive Lysosomal storage disorder Associated with primary immunodeficiency due to impaired phagocytosis Affects multiple systems Symptoms usually present soon after birth Most patients died before 10 as a result of infection or an accelerated lymphoma like phase Pathogenesis Abnormal intracellular protein transport and pigmentation Chediak-Higashi syndrome genes ( LYST/CHS1 ) mutation Abnormal organelle trafficking and fusion Defective lysosome functions Neutrophils and macrophages with normal phagocytic function but delayed fusion of phagosomes with lysosomes NK cell and T cell cytotoxicity markedly decreased due to defective exocytosis of granules Melanosome defects Clinical features Early presentations Nonpigmented skin , blonde hair, blue eyes (partial oculocutaneous albinism) Recurrent bacterial infections Coagulation defects, usually mild Aden