Genetic Disorders
This gene mutation is defect of the FBN1 gene encoding the extracellular glycoprotein: fibrillin-1 which forms elastic fibers - leading to skeletal abnormalities, lax joints, spinal deformities, ocular changes, and cardiovascular lesions
What is Marfan Syndrome?
This trisomy is known as Downs syndrome.
What is trisomy 21?
Steatosis is a term used to describe what substance accumulating in the liver.
What is fat/triglycerides?
Hyperchromatic, pleomorphism, increased N/C (nucleo-cytoplasmic ratio), mitotic figures: are all features that help distinguish between these two neoplasms.
What are benign and malignant?
Hepatic steatosis, hepatitis and fibrosis/cirrhosis are related to what type of liver disease?
What is alcoholic?
This genetic mutation involving genes that encode for collagen - which manifests in skin hyperextensibility, joint hypermobility, dislocations and possible bowel/large vessel rupture.
What is Ehlers-Danlos Syndrome?
This trisomy classically presents with cleft lip and palate, rocker-bottom feet, polydactyl and micropthalmia - and is also known as Patau Syndrome.
What is trisomy 13?
What is the term used to describe a lesion that involves the entire lumen of a structure?
What is circumferential?
Seeding within body cavities, lymphatic spread and hematogenous spread are all methods of this malignant feature.
What is metastasis?
This vitamin deficiency can cause night-blindness.
What is vitamin A?
This gene mutation causes cutaneous xanthomas and premature atherosclerosis.
What is familial hypercholesterolemia (FH)?
This renal malformation is commonly found in patients with Trisomy 18/Edwards Syndrome.
What is horseshoe kidney?
What is the term used to describe a flat polyp, that lacks a stalk?
What is sessile?
This is the most common male cancer.
What is prostate?
This vitamin deficiency can lead to Rickets (which causes lack of bone mineralization and leads to lumbar lordosis and bowing of legs.)
What is vitamin D?
This is the most common genetic lysosomal storage disorder.
What is Gaucher Disease?
A common macroscopic finding of the brain of this trisomy is a short A-P diameter with an open perculum and an hypoplastic superior temporal gyrus.
What is trisomy 21?
What is the term used to describe the type of necrosis often associated with TB?
What is caseous necrosis?
This is the most common cause of cancer deaths in both male/female.
What is lung/bronchus?
Vitamin C deficiency leads to poor vascular support (bleeding), poor wound healing, and bony disease.
What is scurvy?
This glycogen storage disorder, caused by deficiency or complete absence of an enzyme called muscle glycogen phosphorylase - leads to painful muscle cramps, weakness, and fatigue manifest during periods of physical activity
What is McArdle Disease?
This is the term used for three copies of all chromosomes.
What is triploidy?
This is the term used to describe cells that have shrunken/decrased in sick, by loss of cell substance.
What is atrophy?
This gene is known as the "guardian of the genome."
What is TP53?
This is the most readily preventable cause of death in humans.
What is smoking?