Pathology - General Flashcards
How is RG colour blindness inherited?
X-linked recessive.
What is Onchronosis?
A congenital or acquired disease causing yellow-ish (ochre) discolouration of the skin. Caused by exogenous creams or inherited deficiencies in enzymes to metabolise homogentistic acid.
What is melanosis coli?
A benign condition arising usually from laxative use.
The pigmentation is due to lipofuscin, NOT MELANIN.
What is milk-alkali syndrome?
A syndrome caused by increased intake of calcium and absorbable alkali.
Patients get Hypercalcaemia, metabolic alkalosis, dizziness, and renal failure.
What is Brown Atrophy of the Heart?
Atrophy of the heart muscle commonly found in the elderly associated with brown pigmentation due to lipofuscin deposits.
Brown Atrophy also occurs in the liver and in the brain.
Monosomy and Trisomy usually result from..? When?
Mosaics normally arise because of..?
Non-disjunction during the first meiotic division.
Mitotic errors during mitosis in the zygote.
What is the most usual genetic abnormality in Cystic Fibrosis?
Deletions.
What is the most usual genetic abnormality in Osteogenesis Imperfecta?
Gonadal mosaicism.
What is the most usual genetic abnormality in Fragile X?
Triplet repeat mutations.
The use of the oral contraceptive is associated with increased incidence of which cancers?
Hepatic adenomas
Cervical carcinoma
Breast adenocarcinoma
NOT ENDOMETRIAL (protective) NOT OVARIAN (protective)
