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Path Ch 12

Pathology Chapter 12

QuestionAnswer
Presence of a combo of symptoms that commonly occur together and are related to a single cause syndrome
Neuro condition where an infants head is significantly smaller than similar children microcephaly
A lack of shortage. deficiency
A DNA molecule with part or all of the genetic material. chromosome
Pairs of chromosomes, that look the same in both sexes. autosome
Sex chromosomes. allosome
female chromosome xx
male chromsome xy
deficiency in vitamin B1- thiamine beriberi
what is thiamine essential for promoting growth, maintaining muscle tone and heart function
beriberi is caused by poor diet
chronic lack of niacin B3 pellagra
lack of vitamin C scurvy
what does scurvy look like on xray Pelkan Spur, Wimberger’s sign
who is scurvy common in sailors; don't eat enough fruits and veggies
vitamin D deficiency rickets
causes of rickets lack of calcium, malnutrition, lack of sunlight
what do the legs of children with rickets look lik bow legged
causes of vitamin A deficiency Iron deficiency, alcoholism
symptoms of someone who has vitamin A deficiency night blindness, infections, dry eyes
what does vitamin A play a major role in phototransduction- turns light into images
what is vitamin K necessary for blood clotting
Condition of abnormally high storage levels of vitamins Hypervitaminosis
hypervitaminosis occurs in what vitamins D,E,K,A
what does increased vitamin D cause hypercalcemia in organs
Kwashiorkor Severe proteins-calorie deficiency.
symptoms of Kwashiorkor Delayed growth in children, swollen belly, frequent infections
Excess of adipose tissue that develops when caloric intake exceeds calories burned obesity
A connective tissue disorder; most likely an immune complex disease Systemic Lupus Erythematosus
common symptom of Systemic Lupus Erythematosus butterfly rash
Occurs when the pigment-producing cells that give color to the skin become cancerous melanoma
t/f: melanoma is extremely malignant and mets through the whole body true
A group of chronic inherited conditions where fat replaces muscle muscular dystrophy
how many different types of muscular dystrophy are there 9
how many chromosomes does a normal person have 46; 23 pairs
Most common trisomy disorder down syndrome
what is down syndrome caused by extra autosomal chromosome
what does a down syndrome persons pelvis resemble mickey mouse; decrease in acetabular and iliac angles with hypoplasia
Sex chromosome trisomy disorder. Klinefelter’s Syndrome
t/f: males with Klinefelter’s Syndrome have 2x chromosomes and small testes that fail to mature true
female with 1 x chromosome turners syndrome
symptoms of turners syndrome Short stature, delayed puberty, infertility, heart defects and certain learning disabilities webbed neck
what is a sign of turner syndrome on an xray metacarpal sign
signs of marfan syndrome Long arms, legs and fingers, Tall and thin body type, Curved spine, Chest sinks in or sticks out, Flexible joints, Flat feet, Crowded teeth
Inherited generalized disorder of connective tissue with ocular, skeletal and cardiovascular manifestations marfan syndrome
An inborn error of the metabolism of the amino acid methionine Homocystinuria
t/f: Homocystinuria causes a defect in the structure of collagen and elastin true
Enzyme deficiency leading to excessive phenylalanine Phenylketonuria
what can Phenylketonuria cause Microcephaly, hyperactivity, seizures, brain atrophy.
Rare enzyme deficiency leading to excessive homogentisic acid Alkaptonuria
Inborn error of amino acid transport characterized by impaired tubular absorption Cystinuria
what is glycogen storage used for to maintain blood glucose and provide energy
Hereditary disease in which the metabolism and storage of fats is abnormal Gaucher’s Disease
what does a Gaucher’s Disease xray look like loss of bone density in extremities
Created by: rnmps
 

 



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