HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024

HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024 Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - ANSWER protein gluten is not properly broken down cystic fibrosis - ANSWER Hereditary condition that causes the exocrine glands to malfunction. The patient produces very thick mucus that causes severe congestion within the lungs and digestive system. down syndrome - ANSWER Trisomy 21, a condition of retardation and associated physical disorders caused by an extra chromosome in one's genetic makeup duchenne muscular distrophy - ANSWER A human genetic disease caused by a sexlinked recessive allele; characterized by progressive weakening and loss of muscle tissue hemophillia - ANSWER rare bleeding disorder in which your blood doesnt clot normally. klinefelter's syndrome - ANSWER a chromosomal trisomy in which males have an extra X chromosome resulting in an XXy condition; affected individuals typically have reduced fertility neurofibromatosis - ANSWER autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities phenlketonuria - ANSWER A genetic disorder caused by a particular pair of homozygous recessive genes and characterized by the inability to break down phenylalanine, an amino acid found in many high-protein foods. The resulting high blood levels of phenylalanine cause mental retardation polycystic kidney disease - ANSWER kidney disease characterized by enlarged kidneys containing many cysts sickle-cell disease - ANSWER A human genetic disease caused by a recessive allele that results in the substitution of a single amino acid in the hemoglobin protein; characterized by deformed red blood cells that can lead to numerous symptoms. turner syndrome - ANSWER where females only have a single x chromosome instead of two acne - ANSWER an inflammatory disease involving the sebaceous glands of the skin alopecia - ANSWER loss of hair (especially on the head) or loss of wool or feathers angioma - ANSWER a tumor consisting of a mass of blood or lymphatic vessels athlete's foot - ANSWER Fungus infection usually in the skin of the toes and soles boil - ANSWER a painful sore with a hard pus-filled core basal cell carcinoma - ANSWER Most common and least severe type of skin cancer; often characterized by light or pearly nodules. bowen's disease - ANSWER carcinoma in situ on shaft of penis (* risk of visceral ca) callus - ANSWER an area of skin that is thick or hard from continual pressure or friction (as the sole of the foot) corns - ANSWER hard growths on the feet or palms of the hands cellulitis - ANSWER an inflammation of body tissue (especially that below the skin) characterized by fever and swelling and redness and pain dermatitis - ANSWER inflammation of the skin dermatofibroma - ANSWER fibrous tumor of the skin eczema - ANSWER Inflammatory, painful itching disease of the skin, acute or chronic in nature, presenting many forms of dry or moist lesions. erythrasma - ANSWER often as a interdigital toe web maceration with fissures as well as shiny or scaly brown-red patches erysipelas - ANSWER an acute streptococcal infection characterized by deep-red inflammation of the skin and mucous membranes folliculitis - ANSWER inflammation of a hair follicle herpes - ANSWER A viral infection causing small painful blisters and inflammation, most commonly at the junction of skin and mucous membrane in the mouth or nose or in the genitals hives - ANSWER an itchy skin eruption characterized by weals with pale interiors and well-defined red margins impetigo - ANSWER Bacterial skin infection characterized by isolated pustules that become crusted and rupture jock itch - ANSWER fungal infection of th