HOSA Pathophysiology In-class activity 2023 with complete solution questions and answers

Angelman syndrome Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease 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 protein gluten is not properly broken down cystic fibrosis 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 Trisomy 21, a condition of retardation and associated physical disorders caused by an extra chromosome in one's genetic makeup duchenne muscular distrophy A human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and loss of muscle tissue hemophillia rare bleeding disorder in which your blood doesnt clot normally. klinefelter's syndrome a chromosomal trisomy in which males have an extra X chromosome resulting in an XXy condition; affected individuals typically have reduced fertility neurofibromatosis autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities phenlketonuria 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 kidney disease characterized by enlarged kidneys containing many cysts sickle-cell disease 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 where females only have a single x chromosome instead of two acne an inflammatory disease involving the sebaceous glands of the skin alopecia loss of hair (especially on the head) or loss of wool or feathers angioma a tumor consisting of a mass of blood or lymphatic vessels athlete's foot Fungus infection usually in the skin of the toes and soles boil a painful sore with a hard pus-filled core basal cell carcinoma Most common and least severe type of skin cancer; often characterized by light or pearly nodules. bowen's disease carcinoma in situ on shaft of penis (* risk of visceral ca) callus an area of skin that is thick or hard from continual pressure or friction (as the sole of the foot) corns hard growths on the feet or palms of the hands cellulitis an inflammation of body tissue (especially that below the skin) characterized by fever and swelling and redness and pain dermatitis inflammation of the skin dermatofibroma fibrous tumor of the skin eczema Inflammatory, painful itching disease of the skin, acute or chronic in nature, presenting many forms of dry or moist lesions. erythrasma often as a interdigital toe web maceration with fissures as well as shiny or scaly brown-red patches erysipelas an acute streptococcal infection characterized by deep-red inflammation of the skin and mucous membranes folliculitis inflammation of a hair follicle herpes 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 an itchy skin eruption characterized by weals with pale interiors and well-defined red margins impetigo Bacterial skin infection characterized by isolated pustules that become crusted and rupture jock itch fungal infection of the groin (most common in men) kaposi's sarcoma malignant tumor of the blood vessels associated with AIDS keloid overgrowth of scar tissue keratoacanthoma skin tumor that grows rapidly (especially in older people) and resembles a carcinoma but does not spread keratosis a skin condition marked by an overgrowth of layers of horny skin pediculosis lice infection lipoma a tumor consisting of fatty tissue lymphadenitis inflammation of lymph nodes malignant melanoma Most serious form of skin cancer; often characterized by black or dark brown patches on the skin that may appear uneven in texture, jagged, or raised. melasma a tan discoloration of a woman's face that is associated with pregnancy or with the use of oral contraceptives miliaria obstruction of the sweat ducts during high heat and humidity photoallergy an allergic type of sensitivity to light psoriasis a chronic skin disease characterized by dry red patches covered with scales raynaud's disease This disease is an intermittent spasm of the digital arteries & arterioles resulting in decreased circulation to the fingers & toes, sometimes tips of nose & ears are affected. Related to vasospastic disorders & disturbance with innervations of the SNS. ring worm when a fungus forms a mycelium directly with the outer layer of the skin other than the bottom of the foot such as the scalp and produces a red scaling sore shingles eruptions along a nerve path often accompanied by severe neuralgia squamous cell carcinoma Type of skin cancer more serious than basal cell carcinoma; often characterized by scaly red papules or nodules. verruca an epidermal tumor caused by a papilloma virus, also called a wart Astrovirus Naked, (+)ssRNA that cause villous blunting, irregular surface epithelium with inflammatory cell infiltration; seen most in children under 12 months - diarrhea, vomiting, fever with mild dehyrdration for 4-5 days; fecal-oral spread Chickenpox highly contagious, acute viral infection that is common in children and young adults Dengue Virus +ssRNA, causes hemorrhagic fever. Mosquito bite causes viremia, fever, rash. Confirm with serology, no vaccines or anti-virals. Increased severity infection if previously infected by another serotype Ebola A contagious viral disease originating in Africa. It is transmitted by blood and body fluids and causes body organs and vessels to leak blood, usually resulting in death. Foot-and-mouth disease highly contagious viral infection that affects pigs, cattle, sheep, goats, and deers; it can also but rarely infect humans (when we drink milk of infected animals) Hepatitis A an acute but benign form of viral hepatitis caused by an RNA virus that does not persist in the blood serum and is usually transmitted by ingesting food or drink that is contaiminated with fecal matter Hepatitis B an acute (sometimes fatal) form of viral hepatitis caused by a DNA virus that tends to persist in the blood serum and is transmitted by sexual contact or by transfusion or by ingestion of contaminated blood or other bodily fluids Hepatitis C inflammation of th eliver caused by the HCV, transmitted by exposure to infected blood (rarely contracted sexually) Herpes viral diseases causing eruptions of the skin or mucous membrane HIV the virus that causes acquired immune deficiency syndrome (AIDS) Human Papilomavirus this diseases warts are the most easily recognized manifestation of symptoms, occurring on the head or shaft of the penis, at the vaginal opening, or around the anus Influenza an acute febrile highly contagious viral disease Japanese Encephalitis Flavivirus; found in Asia and the Western Pacific; can cause altered consciouness and seizures in children, a vaccine is used in China Measles an acute and highly contagious viral disease marked by distinct red spots followed by a rash Mumps an acute contagious viral disease characterized by fever and by swelling of the parotid glands Naples Virus A species in the genus PHLEBOVIRUS causing PHLEBOTOMUS FEVER, an influenza-like illness. Related serotypes include Toscana virus and Tehran virus. Parvovirus any of a group of viruses containing DNA in an icosahedral protein shell and causing disease in dogs and cattle Rabies an acute viral disease of the nervous system of warm-blooded animals (usually transmitted by the bite of a rabid animal) Rubella a contagious viral disease that is a milder form of measles lasting three or four days Shingles eruptions along a nerve path often accompanied by severe neuralgia Smallpox a highly contagious viral disease characterized by fever and weakness and skin eruption with pustules that form scabs that slough off leaving scars Varicella Zoster Virus the member of the herpes virus family that is responsible for chickenpox West Nile Virus the flavivirus that causes West Nile encephalitis Yellow Fever caused by a flavivirus transmitted by a mosquito Scarlet Fever an acute communicable disease (usually in children) characterized by fever and a red rash CVA cerebrovascular accident, a sudden loss of consciousness resulting when the rupture or occlusion of a blood vessel leads to oxygen lack in the brain Stroke a sudden loss of consciousness resulting when the rupture or occlusion of a blood vessel leads to oxygen lack in the brain Seizure sudden disturbance in brain function sometimes producing a convulsion Myocardial Infarction destruction of heart tissue resulting from obstruction of the blood supply to the heart muscle Mono an acute disease characterized by fever and swollen lymph nodes and an abnormal increase of mononuclear leucocytes or monocytes in the bloodstream Common Cold Acute, self-limiting, and highly contagious viral infection of the upper respiratory tract. Cold Sore caused by herpes simplex virus type 1 (HSV-1) Codominance situation in which both alleles of a gene contribute to the phenotype of the organism consanguinity related by blood Cri du chat syndrome 5p chromosome deletion, severe mental retardation, microcephaly, catlike cry, low birth weight, round face, hypertelorism (wide eyes) p51 Down syndrome a congenital disorder caused by having an extra 21st chromosome euploid cell multiple of the normal number of chromosomes exon expressed sequence of DNA; codes for a protein klinefelter syndrome syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation methylation the addition of groups to DNA that disables genes monosomy chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number mutagen any agent (physical or environmental) that can induce a genetic mutation or can increase the rate of mutation mutation (genetics) any event that changes genetic structure nondisjuncion Failure of a pair of homologous chromosomes to separate during meiosis, leading to one gamete with n+1 chomosomes (see trisomy) and another gamete with n-1 chromosomes. partial trisomy only an extra portion of a chromosome is present in each cell polygenic trait trait controlled by two or more genes polymorphic having or occurring in several distinct forms polypeptide a peptide containing 10 to more than 100 amino acids polyploid cell additional sets of chromosomes beyond the diploid number pseudoautosomal Shared between X and Y and required for pairing of X and Y during meiosis in males. Same on X and Y and are at both ends purine a colorless crystalline nitrogen-containing organic base pyrimidine a heterocyclic organic compound with a penetrating odor tetraploidy four chromosomal sets colorectal cancer adenocarcinoma of the colon or rectum, or both adenocarcinoma malignant tumor originating in glandular epithelium agglutination a clumping of bacteria or red cells when held together by antibodies (agglutinins) opsonization An immune response in which the binding of antibodies to the surface of a microbe facilitates phagocytosis of the the microbe by a macrophage Acidemia a blood disorder characterized by an increased concentration of hydrogen ions in the blood (which falls below 7 on the pH scale) acidosis abnormally high acidity (excess hydrogen-ion concentration) of the blood and other body tissues aldosterone a corticosteroid hormone that is secreted by the cortex of the adrenal gland alkalemia a blood disorder characterized by a lower concentration of hydrogen ions in the blood (which rises above 7.45 on the pH scale) alkalosis abnormally high alkalinity (low hydrogen-ion concentration) of the blood and other body tissues anion gap difference between the concentrations of serum cations and anions, determined by measuring the concentrations of sodium cations and chloride and bicarbonate anions. baroreceptor a sensory receptor that responds to pressure buffering Cushioning the effect of messages by utilizing both positive and negative politeness skills compensation (psychiatry) a defense mechanism that conceals your undesirable shortcomings by exaggerating desirable behaviors dilutional hyponatremia a serum sodium that is low not because of an absolute lack of sodium but because of an excess of water edema swelling from excessive accumulation of serous fluid in tissue hypercalcemia the presence of abnormally high levels of calcium in the blood hypercapnia the presence of an abnormally high level of carbon dioxide in the circulating blood hyperchloremia an excess of chloride in the blood plasma hyperkalemia higher than normal levels of potassium in the circulating blood hypermagnesemia an excess of magnesium in the blood plasma hyperphosphatemia an excess of phosphate in the blood plasma hyperpolarized membrane potential becomes MORE NEGATIVE hypertonic hyponatremia excess effective osmoles in ECF hyperglycemia increased extracellular volume: sodium shows low but total body sodium ok osmotic diuretics for every 100 mg/dl incr in serum glucose, serum Na rises by 1.7 meq/L and osmolality incr by 2 mOsmo/kg hypocalcemia abnormally low level of calcium in the blood hypokalemia abnormally low level of potassium in the circulating blood leading to weakness and heart abnormalities hypoosmolar hyponatremia both TBW & sodium levels are increased, but TBW exceeds the increase in sodium hypovolemia a blood disorder consisting of a decrease in the volume of circulating blood Abscess symptom consisting of a localized collection of pus surrounded by inflamed tissue chemotaxis movement by a cell or organism in reaction to a chemical stimulus degranulation the emptying of granules from the interior of a mast cell into the extracellular environment. dehiscence Bursting open of a wound, especially a surgical abdominal wound eosinophil a white blood cell that stains with certain dyes epihithelialization The process of covering a denuded surface with epithelium. phagosytosis cells use this to pick up large particles, including whole microorganisms. Acute rapid onset Agenesis failure of a part to form properly Asymptomatic undetectable changes (even to patient) Atrophy wasting of tissues, organ, or the entire body Benign refers to mild character of an illness or non malignant character of neoplasm Chronic develops slowly and lingers Complication event occurring during a disease which is not an essential part of the disease although it may result from it or from independent causes Congenital exists at birth Continual symptoms and exacerbations are frequent Degenerative retrogressive pathological change in cells or tissues- deterioration in function Developmental mistake made as body develops