HOSA Pathophysiology

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