Pathophysiology Exam 2

Front 1

Autosomal recessive diseases

Back 1

PKU, Cystic Fibrosis, Tay-Sachs, Mucosaccharaide disorders

Front 2

Autosomal Dominant

Back 2

Marfan's syndrome, Osteogenesis imperfecta, (Huntington's)

Front 3

X-linked Recessive

Back 3

Hemophilia, Muscular Dystrophy

Front 4

X-linked Dominant

Back 4

Vitamin D resistant Rickets

Front 5

Chromosomal autosomal anomalies - trisomys

Back 5

21 Downs
18 Edwards
13 Patau

Front 6

Chromosomal Anomalies Sex Chromosome

Back 6

Klinefleters, Turner's

Front 7

Multifactorial Inheritance

Back 7

Cleft lip/palate, neural tube defects

Front 8

Non-classical inheritance

Back 8

Huntington's Chorea

Front 9

Cancer genetics

Back 9

Retinoblastoma, Chronic myelogenous leukemia

Front 10

klippe (-et, -et)

Back 10

cut (with scissors)

Front 11

Phenylketonuria

Back 11

1. Autosomal recessive
2. lacks enzyme to break down PHE
3. MR, Agitated behavior, EEG abnormaliteis, hyperactive reflexes, muscular hypertonicity, inability to talk, inability to walk, tremors, seizures

Front 12

Autosomal Recessive

Back 12

Mental retardation
Hypopigmentation
dislocated lens
osteoporosis
coarse facies and hair
self-mutilation
acute acidosis
unusual body odor
unusual odor to urine
family history of early death
seizures
overwhelming neonatal illness
massive ketosis
severe vomiting
persistent hiccups

Front 13

Tay-Sachs Disease

Back 13

1. Autosomal recessive
2. absene of hexosaminidase A
3. Psychomotor retardation, psychomotor deterioration, blindness, apathy, unresponsive, hypotonia, seizures, EEG abnormalities, megalencephaly, early death 2-4 yrs

Front 14

Cystic Fibrosis

Back 14

1. Autosomal Recessive
2. Defect of choride ion transport
3. incresed exocrine mucous secretions, salty-tasting skin, persistent cough, increased rick for pulmonary infecitons, pneumonia, poor weight gain despite excessive appetite, bulky foul-smelling stools, clubbed fingers, normal intelligence

Front 15

Mucopolysaccharidoses

Back 15

1. autosomal recessive
2. inability to digest mucopolysaccharides
3. mental retardation, frontal bossing, hypertelorism, prominent eyes, gingival hypertrophy, gapped teeth, thick tongue, storage of mucopolysaccharides in body tissues, corneal clouding, hepatosplenomegaly, hand anomlaies, still joints, confestive heart failure, pneumonia, kyphosis

Front 16

Sanfilippo Syndrome

Back 16

1. Autosomal recessive
2. MPS type III
3. Accelerated growth to 3 yearss, growth retardation after 3 years, mental deterioration, mildly coarse facies, variable hepatomegaly, abnormal teeth, mild cardiac anomalies

Front 17

Ehlers-Danlos Syndrome

Back 17

1. Autosomal Recessive
2. collagen defect
3. hypermobile "lop" ears, velvety skin, fragile hyperextensive skin, hyperextensible joints, easy to bruise, mitral valve prolapse

Front 18

Progeria

Back 18

1. Autosomal Recessive
2.
3. alopecia, thin skin, hypoplasia of nails, loss of subcutaneous fat, skeletal hypoplasia, dysplasia, degeneration, delayed eruption of teeth, atheroslerosis, mild elevation of serum cholesterol, premature aging, normal intelligence

Front 19

Marfan syndrome

Back 19

1. Autosomal Dominant
2. weakened connective tissue
3. aortic dissection, mitral valve prolapse, emphysema-like lung disease, ocular and skin disorders. Tall, lanky, long limbs fingers and toes, congreagation of triad of xanthomas, high cholesterol and early heart disease, abnormalities of skeletal system, kyphoscoliosis, pectus excavatum, ectopia lentis, myopia, dilation of ascending aorta, mitral regurgitation, dissecting aneurysm, retinal detachment, small lens.

Front 20

Osteogenesis Imperfecta

Back 20

1. Autosomal Dominant
2.
3. Congenita=severe, tarda=later-onset, multiple intrauterine fractures, susceptibiltiy to bone fracture, bone deformities, joint laxity, short stature, growth retardation, kyphoscoliosis, pectus excavaturm, yellow teeth, thin skin, blue slerae

Front 21

Duchenne's Muscular Dystrophy

Back 21

1. X-linked recessive
2. absence of dystrophin protein
3. hypotonia, frequent stumbling, difficulty climbing stairs, difficulty getting up from floor, pseudohypertrophy of calf muscles, skeletal muscular weakness, inability to walk between ages 5 and 15, death by age 20

Front 22

Vitamin D-resistant Rickets with hypophosphatemia

Back 22

1. X-linked dominant
2.
3. Bone deficiencies ("bowed" legs), dental anomalies, decreased phosphate in serum, short stature, normal intelligence

Front 23

Chromosome errors

Back 23

Spontaneous abortuses, sexually ambiguous organisms, infertile males or females, newborns with multiple congenital anomalies, mentally retarded, mentally ill, behaviourally disordered

Front 24

Trisomy 13

Back 24

Patau Syndrome

Front 25

Trisomy 18

Back 25

Edward syndrome

Front 26

Trisomy 21

Back 26

Down Syndrome

Front 27

5p- deletion

Back 27

cri-du-chat

Front 28

Down Syndrome

Back 28

1. Autosomal Chromosome anomaly
2. trisomy 21
3. mental retardation, low nasal bridge, epicanthal folds, protruding tongue, low set ears, poor muscle tone, short stature, congenital heart defects, by age 40 symptoms similar to alzheimvers, slanted palpebral fissures, small round flat face, brushfield spots (iris), simian creases

Front 29

Patau Syndrome

Back 29

1. Autosomal chromosome anomaly
2. Trisomy 13
3. Mental retardation, growth retardation, microcephaly, cleft lip/palate, small jaw (micrognathia), deformed, low-set ears, polydactyly, congenital heart defects, rocker bottom feet, seizures, low birth weight.

Front 30

Edward Syndrome

Back 30

1. Autosomal chromosome anomaly
2. trisomy 18
3. mental retardation, growth retardation, short neck, cleft lip/palate, dislocated hips/abnormal pelvis, deformed low-set ears, hypertonia, congenital heart disease, horseshoe kidneys, hydronephrosis, short sternum, pyloric stenosis

Front 31

Cri-du-chat

Back 31

1. Autosomal chromosome anomaly
2. 5p-
3. distinctive cat-like cry, profound developmental retardation, severe mental retardation, microcephaly, hypotonia, hypertelorism, congenital heart disease, round, moon-shaped face, large mouth, short philtrum, low set ears, hand and foot abnormalities

Front 32

Monosomy X

Back 32

Turner's syndrome

Front 33

Trisomy X

Back 33

Triplo X

Front 34

Trisomy XXY

Back 34

Klinefelters syndrome

Front 35

Turner Syndrome

Back 35

1. Sex chromosome anomaly
2. Monosomy X
3. female phenotype, short (less than 5 ft), primary amenorrhea, low estrogen levels, maldevelopment of the ovaries, sterility, webbing of the skin of the neck, wide-spaced nipples, edema at birth, cardiovascular problems, gonadal streaks rather than ovaries, sparse body hair, not mentally retarded, sausage like toes

Front 36

Klinefelter's syndrome

Back 36

1. Sex chromosome anomaly
2. trisomy XXY
3. abnormal breast development, aspermia, gynecomastia, long limbs, large hands and feet, retardation in some, fertility in some, social limitations in some

Front 37

Cleft lip/Palate

Back 37

1. Multifactorial inheritance
2.
3. failure of upper lip fusion, failure of closure of upper palate, defects in tooth development, mild ocular hypertelorism, normal intelligence, potential for poor speech, potential otitis media (ear aches)

Front 38

Neural Tube Defects (NTD)

Back 38

1. multifactorial Inheritance
types - spinal bifida- no closure of neural tube
anencephaly - without brain
myelomeningocoele - membrane around the brain don't defelop (coele - pocket/emptiness)
meningocoele
encephalocoele

Front 39

Spina Bifida

Back 39

1. multifactorial inheritance
2.
3. Incomplete closure of embyronic neural tube and resulte in incompletely formed spinal cord. defect in spinal cord with sac-like protrusion, open or closed, wide variability dependent upon location along the spine, prognosis based on tissue in sac
myelomeningocoele - includes meninges, spinal cord and nerves
meningocoele - includes meninges and is covered

Front 40

Anencephaly

Back 40

1. multifactorial inheritance
2.
3. partial or complete absence of calvarium and cranial vault, missing cerebral hemispheres, incompatible with postnatal life

Front 41

myelomeningocoele

Back 41

1. multifactorial inheritance
2.
3. herniation of spinal cord and meninges through a defect in the vertebral canal, osteoporosis fractures of teh diaphysis adn metaphysis, growth plate injuries, peiphysea separation, effusions, joint destruction and soft tissue ulceration

Front 42

enancephalocoele

Back 42

1. multifactorial inheritance
2.
3. herniation of brain an dmeninges through a defect in the skull

Front 43

Huntington's Chorea

Back 43

1. Autosomal dominant/non-classical inheritance
2. short orm of chromosome 4 is a repeat of GAG
3. chorea, dementia, clumsy gait, indistinct speech, emotional instability, paranoia, progressive deterioration, late onset of symptoms

Front 44

Retinoblastoma

Back 44

1. autosomal dominant
2. 13q14 deletion
3. malignant tumor of retina, onset at birth/early childhood, bilateral cases hereditary, poor vision or blindness, painful, red eye

Front 45

"non-heritable" birth defects - taratogens

Back 45

rubella, warfarin, hydantoin, alcohol, tobacco/caffeine

Front 46

fetal alcohol syndrome

Back 46

1. "non-heritable" birth defect
2.
3. prenatal growth deficiency, thin upper lips, mental retardation, visual impairment, hearing loss, low nasal bridge, epicanthal folds, neural tube defects, indistinct philtrum, short palpebral fissure, flat midface, short nose, migrognathia, malformations of heart, kidney, eye, brain, ear and skeleton

Front 47

Fetal Rubella

Back 47

1. "non-heritable" inheritance
2.
3. deafness, cataracts, patent ductus arteriosus, mental retardation, glaucoma, septal defects, thrombocytopenia, hepatosplenomegaly, interstitial pneumonia

Front 48

Fetal hydantoin Syndrome

Back 48

1. "non-heritable" birth defect
2.
3. mental retardation, distal phalangeal hypoplasia, facial clefts, cardiac anomalies

Front 49

Fetal Warfarin

Back 49

1. "non-heritable" birth defect
2.
3. nasal hypoplasia, depressed nasal bridge, skeletal stippling, mild hypoplasia of nails,, short fingers, low birth weight, mental retardation

Front 50

caffein

Back 50

potential synergist co-teratogen with tobacco

Front 51

tobacco

Back 51

miscarraiges, reduced birth weight due to vasoconstriction, potential synergistic co-teratogen with caffeine

Front 52

normal arterial blood pH

Back 52

7.4

Front 53

Normal intracellular pH

Back 53

6.5-6.9

Front 54

pH not compatible with life?

Back 54

lower than 6.8 or higher than 7.8

Front 55

acidosis

Back 55

depression of CNS, coma + death, chest pain, palpitaitons/dysrrhythmias, headache, disorientaion [altered mental status], hypotension, seizures/coma, death, lower limit 6.8-7.0 for blood pH

Front 56

alkalosis

Back 56

hyper-excitability of CNS, convulsions and death, tetany, upper limit of blood pH = 7.8-8.0

Front 57

Major buffering systms of the body

Back 57

bicarbonate (pK 6.1) carbonic anydrase sends CO2 to carbonic acid
Phosphate
Protein

Front 58

causes of metabolic acidosis

Back 58

M - methanol
U - uremia
D - diabetic ketoacidosis
P - paraldehyde
I - infection, iron, isoniazid
E - ethylene glycol, ethanol
S - salicylates

Front 59

Respiratory acidosis

Back 59

causes: over-anesthesia, lung diseases, damage to brain respiratory center, chronic pulmonary disease, pneumonia, pulmonary edema, lung cancer, trauma to lungs or thoracic cavity, asthma, respiratory muscle paralysis
symptoms:
early (restlessness, apprehension)
moderate (lethargy, muscle twitching tremors)
Severe: (coma, death)
respiration is initally high, but in late stages is inhibited due to poisoning of CNS

Front 60

Respiratory Alkalosis

Back 60

causes: fever, aspirin poisoning, high altitude (low oxygen), drugs (stimulants), congestive heart failure, emotions, brain damage, some hypermetabolic states (fever thyroxicosis)
symptoms:
dizziness, confusion, tingling of extremities, convulsion, coma (late)

Front 61

Metabolic acidosis

Back 61

causes: severe diarrhea (loss of bicarb) diabetes mellitus, high intensity excercise, chronic renal failure, intoxication, drugs, renal failure, ketoacidosis
symptoms: headache, lethargy, coma (late), deep and rapid respiration, nausea, vomiting diarrhea, abdominal discomfort, poor contraction of ventricles due to dysrhythmias

Front 62

Metabolic acidosis

Back 62

causes: vomiting (loss of stomach acid, excessive sodium bicarb ingestion
symptoms: weakness, muscle cramps, hyperactive reflexes, respiration slow and shallow, confusion, convulsions

Front 63

Function of Water

Back 63

1. ideal solvent
2. form for body structure
3. transport medium
4. aids in excretion of wastes
5. cushion, protects
6. body temperature regulation
7. promotes ionizaiton
8. lubricates

Front 64

Importance of water balance

Back 64

1. cardiovascular function
2. temperature regulation
3. renal performacne
4. water is ~60% body mass
5. an individual consumes ~ 2500 ml/day
6. 1500 ml/day is necessary for life
7. healthy is 4,500 mL/day

Front 65

factors that affect water balance

Back 65

1. burns
2. oral ingestion
3. eweating
4. excercise
5. dry air (lungs)
6. diarrhea
7. drugs
8. disease

Front 66

thirst mechanism

Back 66

1. plasma angiotension II
2. decreased blood pressure of barorectptors in aortic arch and carotic sinus
3. decresed stretch on right atrial stretch receptor
4. increased osmolarity via hypothalmic osmoreceptor
5. dry pharyngeal membrane
renal regulation, une flow increase as blood pressure increases
ADH - vasopressin
renin-angiotension
Atrial natriuretic peptide

Front 67

body fluid compartments

Back 67

ICF and ECF
Plama = 4L
interstitical = 10L
intracellular = 28 L

Front 68

fluid movement mechanisms

Back 68

hydrostatic pressure, osmotic pressure, diffusion, active transport, vesicular transport

Front 69

Thirst mechanism simpler

Back 69

ADH = thirst
aldosterone = resorbs H2O
renin-angiotension - stimulates release of aldesterone

Front 70

hydrostatic pressure

Back 70

30mmHG at arterial end of capillaries
10 mmHG at venous end of capillaries

Front 71

osmotic blood pressure

Back 71

28 mmHg

Front 72

edema

Back 72

accumulation of free fluid in interstitial spaces, normal intertitial fluid has a gel composition because of mucopolysaccharides, because of excess water, the gel composition is lost.

Front 73

etiological mechanisms of pitting edema

Back 73

1. decresed colloid osmotic pressure
2. increased capillary hydrostatic pressure
3. Increased capillary permeability
4. lymphatic obstruction

Front 74

Causes of pitting edema

Back 74

1. malnutrition
2. neoplastic wasting
3. liver failure
4. burns
5. kidney disease
6. congestive heart failure
7. gravity
8. hepatic obstruction
9. venous blood clots
10. hypertension
11. trauma
12. allergies

Front 75

vericose veins

Back 75

When veins become varicose, the leaflets of the valves no longer meet properly, and the valves don't work. This allows blood to flow backwards and they enlarge even more.

Front 76

pitting edema due to increased capillary permeability

Back 76

1. burns
2. trauma
3. allergies

Front 77

pitting edema due to lymphatic obstruction

Back 77

1. lymph node removal
2. radiation therapy
3. trauma
4. malignant metastasis
5. filariasis

Front 78

edema due to sodium and water excess

Back 78

high aldosterone
kidney failure

Front 79

effects of edema

Back 79

interferes with movement
disfiguring
increased diffusion distance
chronic edema is difficult to correct
poor circulatino
pressure on the tissues

Front 80

treatment for Edema

Back 80

maintain function of organs
correct or control the cause
prevent tissue damage
support stocking, diuretics, elevation of affected area, aldosterone blockers, ACE blockers, blockers of angiotensin II receptors

Front 81

Distribution of edema provides information on cause

Back 81

localization of edema to one limb is venous or lymph obstruction
eyelid and face edema is hypoproteinemia
legs and arms edema of ambulatory individual is congestive heart failure

Front 82

hematocrit

Back 82

male- 42-45
female - 38-42
volume is osmolarity is normal, osmolar is osmolarity is high or low

Front 83

volume inbalances

Back 83

hypervolemia - increase in total body water
hypovaolemia - decrease in total body water

Front 84

hypovolemia

Back 84

dehydration.
Urine: 95% of urine is H2O. Lost from body via urine formation. 12mL is needed to eliminate 1gm of solute by kidneys. ingestion of large quantities of proteins facilitates water loss through urea production
skin: insensible persperation - .5-.7 L seat excreted
water loss: as water vapor, excercise and weather matter.
feces: .1-.2 in feces, but 1.5-5 in diarrhea
gastric emptying: cold fluids emptied faster

Front 85

hypovolemia - more

Back 85

causes: hemorrhage, diarrhea, vomiting, renal disease, burns, fever, uncontrolled diabetes mellitus, draining wounds, abscesses, daphoresis, decreased aldosterone, intestinal obstruction, ascites
symptoms:
weight loss, increased hematocrit, dryness of skin + mucous membranes, decreased urine flow, low blood pressure, light headedness, high heart rate, poor temperature regulation, poor blood flow to lower limbs, limbs white or blue in color, circulatory collapse

Front 86

hypervolemia

Back 86

causes: excess administration of isotonic fluids, chronic renal failure, liver disease, congestive heart failure, malnutrition, increase aldosterone when normal feedback inhibited.
symptoms: high blood pressure, edema, sudden weight gain, decreased hematocrit, if blood pressure is high, a severe headache, dyspnea, cough distended abdomen, stroke, heart failure

Front 87

osmolar imbalances

Back 87

hyponatremia, hypernatremia

Front 88

hyptonatremia

Back 88

causes: decreased sodium intake, diuretics, adrenal failure wiht decreased aldosterone, water replacement after excess diaphoresis, vomiting, dairrhea or GI aspiraiton, psychogenic pollydipsia, decreased fluid excretion due to renal disease
symptoms: cell swelling, muscle weakness, lethargy, confusion, apprehension, seiaure, coma low BP

Front 89

hypernaturemia

Back 89

cause: impaired thirst, dysphagia, profuse sweating, watery diarrhea, polyuria of diabetes, diet, kidney
symptoms: cells shrink, pulmonary edema, confulsions, cough, dyspnea, thirst, fever, dry mucous membrane, restlessness.

Front 90

Body defense mechanisms

Back 90

1- physical, mechanical + chemical barriers
2- inflammatory response
3 - immune response, natural killer cells.

Front 91

physical + chemical barriers

Back 91

skin and mucous membranes, acid pH, fatty acids, hydrolytic enzymes, proteolytic enzymes, interferons, complement system

Front 92

inflammation initiation

Back 92

tissue damage:
mechanical, chemical, biological, immunologic

Front 93

inflammation functions

Back 93

isolates, kills/inactivates invading pathogens
removes debris from tissue
prepares tissue for repair of damage
provides high blood flow to tissues to aid in removal of toxic materials and provide nutrients for wound healing

Front 94

cardinal signs of inflammation

Back 94

rubor, dolor, calor, tumor

Front 95

physiology of inflammation

Back 95

release of soluble mediators, vasodilation, increased blood flow, extravasation of fluid, cellular influx, elevated cellular metabolism

Front 96

extravascular fluids

Back 96

transudate - cleare -acellular
exudate- cloudy cellular

Front 97

inflammation events

Back 97

1. tcell activation/ mast cell degranulation
2. arachidonate metabolite production
3. walling off by fibrin
4. immune response
5. pus formation
6. tissue repair