Mod 2: Clinical Correlates Flashcards
1
Q
Amyloidosis
A
abnormal extracellular PROTEIN deposits (misfolded proteins form fibrillar aggregates) originally thought to be polysaccharides/starch
- -difficult to degrade/phago
- -accumulate –> tissue/organ loss of architecture/loss of function
2
Q
Immunocyte dyscrasia
A
abnormal B cell proliferation/activation
- -excessive production of Ig light chains (Bence Jones proteins)
- -renal, splenic, lymph node pathologies (Ig clogs up organs where fluid passes through)
3
Q
Dyscrasia
A
abnormal component of the blood
eucrasia = health
dyscrasia = disease
4
Q
Why is there a change in sense of smell with age?
A
Loss of olfactory epithelium SA
Loss in number of CELL BODIES and NEURONS in OLFACTORY BULB
stem cells –> mature cells DECREASES with age
DEC in OBP
5
Q
Blood vessels that can circumvent aortic coarctation (narrowing of aorta)
A
anastamoses b/w ant and post intercostal aa
6
Q
Sentinel node biopsy
A
radio-opaque dye injected into cancer site and tracked to the first lymph node of drainage, using radiography
That node, and any other nodes nearby are biopsied or removed
Breast cancer –> check for metastasis in axillary lymph node
7
Q
Thoracic Outlet Syndrome
A
major obstruction of vessels/nerves emerging from the sup thoracic aperture (usually at root of neck)
Trauma inflames scalene muscles – compresses brachial plexus, vessels
Remove scalenes and 1st rib to treat
8
Q
Pneumothorax
A
entry of air
results in collapsed lung
ex. bullet punctures thoracic wall and parietal pleura + lung and visceral pleura — allows air in
9
Q
Hemothorax
A
entry of blood
does not cause lung to collapse
10
Q
Thoracocentesis
A
Pleural tap
needle inserted at mid-axillary line in 9th intercostal space (low enough to avoid hitting lung tissue)
needle must be inserted a little sup to 10th rib to avoid intercostal VAN and its collateral branches
11
Q
Referred pain
A
happens b/c visceral sensation travels back to CNS via the exact routes of sym efferent input
In dorsal horn of SC, indiv cell bodies receive input from both visceral and somatic structures, confusing the brain as to where the pain is actually located –> referred pain
–pain is felt on body wall locations innervated by corresponding spinal level (dermatomes)
12
Q
Dermatome corresponding with heart
appendix
A
heart: T1-T5
appendix: T10
13
Q
CC16
A
diagnostic marker (clara cell secretory protein) low levels indicate tissue injury
14
Q
Variations in branches from aortic arch
A
L common carotid originates from brachiocephalic trunk (27% of people)
R brachiocephalic does not exist so R common carotid and R subclavian branch directly from aortic arch
L brachiocephalic a on left side branches into L common carotid and L subclavian vessels
15
Q
Aortic aneurysm
A
Localized dilation of aorta
Weakened aortic wall
Pt complains of chest pain that radiates to back
Seen on angiogram (radiograph)
16
Q
Coarctation of aorta
A
narrowing (stenosis) of aorta – near site of ligamentum arteriosum
Collateral vessels may become enlarged and pulsate in intercostal spaces
17
Q
Aortic aneurysm vs coarctation
A
aneurysm: localized dilation
coarctation: narrowing (stenosis)
18
Q
Phrenic n and breathing – neck injuries
A
If SC damaged below C3-C5, still able to breath
If damaged above this region, no innervation to diaphragm, intercostal muscles – cannot breathe
19
Q
Recurrent laryngeal nerve damage/injury
A
alters voice – recurrent laryngeal nn supply intrinsic muscles of larynx and swallowing safety
damaged by:
–bronchogenic/esophageal carcinoma
–enlargement of medaistinal lymph nodes
–aortic aneurysm
–cardiac surgery (especially in infants)
20
Q
Phrenic nerve injury/block
A
paralysis of diaphragm
- -injury
- -block (during lung operation)
21
Q
Aspiration of foreign bodies
A
enter Right bronchus (b/c wider, shorter, and more vertical)
22
Q
Cough reflex
A
elicited when foreign body makes contact with carina (which is covered by mucous membrane and is very sensitive to tactile stimulation)
23
Q
Bronchogenic carcinoma
A
enlargement of tracheo-bronchial lymph nodes
alter position of and immobilize the carina
–morphological changes in carina are diagnostic signs
24
Q
Hiatal hernia
A
protrusion of stomach into mediastinum through the esophageal hiatus of diaphragm
–after middle age due to weakening of diaphragm and widening of esophageal hiatus
25
Chylothorax
blockage of cisterna chyli
| lymph accumulates in pleural cavity
26
ACE inhibitors
prescribed for hypertension
| regulates levels of angiotensin II
27
Emphysema
permanent ENLARGEMENT of air spaces distal to terminal bronchioles
Causes:
progressive, irreversible destruction of elastic tissue of alveolar walls
--destroyed by elastase (neutrophils)
--neutrophils secrete elastase in response to chronic exposure of chemicals/toxins OR genetic alpha1-antitrypsin deficiency
--alpha1-antitrypsin neutralizes elastase
--more neutrophils, more elastase --> elastic tissues destroyed
Without elastic fibers, no tissue recoil
Adjacent alveoli confluent, creating large air spaces
28
Steps of emphysema development
Stimulus inc macrophages -- secrete chemoattractants for neutrophils
Neutrophils accumulate and release elastase
alpha1-antitrypsin neutralizes elastase
Persistent stimulus inc neutrophils
Neutrophils release elastase
Serum alpha1-antitrypsin levels dec and elastase starts destruction of elastic fibers -- emphysema
Damaged fibers cannot recoil
29
Centracinar emphysema vs panacinar emphysema
Centracinar: wall of RESP BRONCHIOLES destroyed by elastase/other proteases
--cigarette smokers
Panacinar: wall of RESP BRONCHIOLES, ALVEOLAR DUCTS, and ALVEOLI destroyed by elastase/other proteases (boundaries of structures is lost)
--alpha1-antitrypsin deficiency
30
Asthma
```
Inflammation of airways causing NARROWING of airways
swelling/muscles tighten
bronchus constricts the greatest amount of all airways
cells produce excess mucus -- further narrows airways (goblet, clara)
Causes:
--allergens
--resp infections
--exercise
--pollutants
--genetics
Treatments
--corticosteroids
--anticholinergics
```
31
What are the key WBC in emphysema?
| Asthma?
Emphysema: macrophages --> neutrophils
Asthma: eosinophils (major basic protein causes airway damage)
32
Compare normal airway and airway with asthma
Normal
- -thin mucus layer
- -thinner lamina propria with few WBC
- -thin smooth m layer
- -fewer glands
Asthma
- -thick mucus
- -thicker lamina propria with high numbers of macrophages, mast cells, eosinophils, neutrophils, other WBC
- -thicker smooth m
- -more glands
33
Histopathology of a small airway in fatal asthma
```
Lumen occluded with mucus plug
Goblet cell metaplasia
Airway thickened
Inc in basement membrane thickness
Inc in airway smooth m thickness
```
34
Chronic bronchitis
chronic exposure to pollutants, pathogens,and other toxins --> inflammation and NARROWING of airway passages
very similar to asthma
-reversible
-narrowing of airways
-chronic bronchitis can be cured, but asthma cannot be cured
35
COPD
overlap of symptoms b/w emphysema, chronic bronchitis, and asthma
Emphysema: alveolar wall destruction, overinflation
Chronic bronchitis: productive cough, airway inflammation
Asthma: reversible obstruction, triggered by allergens, infection
36
Compare asthma/chronic bronchitis vs emphysema
Asthma/chronic bronchitis
- -reversible
- -narrowing of airways
- -mucus plugs
Emphysema
- -irreversible
- -dilation of airways
- -destruction of lung parenchyma
37
Neonatal respiratory distress syndrome (RDS)
```
Babies w/o sufactant
--premature births
--diabetic moms (high level of insulin -- antagonize effects of corticosteroids)
Symptoms:
--rapid breathing
--nasal flaring
--audible grunting
--cyanosis
Prevention: corticosteroids to mom expected to deliver 25-34 weeks gestation
Treatment
--artificial surfactant
--warm, moist O2
--continuous pos airway pressure (CPAP) -- keeps airways open
--breathing machine
```
38
Normal transition in breathing from fetal life
Rapid redirection of gas exchange from placenta to lungs
1. replace alveolar fluid with air
2. onset of regular breathing
3. increased pulmonary blood flow
Normal surfactant production during 35 weeks gestation
--Type II pneumocytes secrete
--induced by corticosteroids
39
Steps of Neonatal RDS development
1. insufficient surfactant
2. increased alveolar tension
3. hypoventilation and CO2 retention
4. dec blood flow to lung
5. endothelial damage
6. fibrin and dead Type I pneumocytes create hyaline membranes that further cause CO2 retention (alveolar interstitum)
40
Blue baby
venous blood circulates body rather than arterial blood -- due to:
- -failure of pulmonary trunk and aorta to separate (could be due to problem with neural crest cells)
- -tetralogy of fallot
41
Problem with neural crest cell can lead to lack of ... in fetus
lack of separation of pulmonary trunk and aorta
42
Atrial septal malformation
left to right shunt
43
Ventricular septal malformation
left --> right shunt
44
Persistent AV canal malformation
associated with others
45
AV valve malformation
reduced oxygenation
46
Semi-lunar valve stenosis
pulmonary hypertrophy and cardiac failure
| Valves don't work, stay shut
47
Septation of outflow malformation
pulmonary hypertension
48
Tetralogy of Fallot
4 abnormalities found in the conus and truncus region
Happens at separation b/w pulmonary trunk and aorta
1. narrow right ventricular outflow region (reduced outflow)
2. defect in interventricular septum
3. Hypertrophied aorta due to pulmonary trunk stenosis (aorta takes more blood than normal due to stenosis, arising cranial to the interventricular defect -- "overriding aorta" grows to right side)
4. Hypertrophy of right ventricular wall due to increased pressure on this side, after birth
*can result in blue baby due to mixing of arterial and venous blood
49
Mesothelioma
mesothelium on surface of lungs
| many WBC present due to uncontrolled mitosis in mesothelium
50
Pericarditis
infection by pathogen cause inflammation of pericardium
chronic infection --> WBCs
M2 macrophages wall off infection -- lay down collagen fibers (thick fibrous CT epicardium results)
--thick granulomatous formed
If infection lasts for long time, resident fibroblasts and adipocytes of aerolar CT stimulate growth of collagen and adipocytes
Epicardium now very thick
51
Similarities of pericarditis and mesothelioma
```
cellular destruction
inflammation
chronic -- scar tissue formation
epicardium thickened
macrophage infiltration
```
52
Cardiac tamponade
excessive accumulation of pericardial fluid with pericarditis
expansion of heart is restricted
fluid drained via needle aspiration
53
Signs and symptoms of cardiac tamponade
Signs:
cardiac output reduced (oxygenation to periph tissues reduced)
inc HR to compensate
inc BP
inc respiration rate to compensate
edema, swelling in ankles, lower legs, abdomen
fever
Symptoms
difficulty breathing when reclining
lightheadedness, dizziness, fatigue
sharp stabbing pain and tightness in chest cavity --> may radiate to left arm/neck
54
Myocardial infarction
thickening of coronary a walls
occludes delivery of O2 and nutrients to myocardium --> ischemia --> cell death
myocytes die --> cardiac m nonfunctional
series of infarcts (foci of dead cardiac tissue) --> less functional
55
Histology of myocardial infarct
Day 1
Day 3
Day 10
Day 1: loss of architecture, loss of plasma membrane, disintegration of nuclear membrane, few well-defined nuclei
Day 3: neutrophil inflitration
Day 10: macrophage total removal of necrotic myocytes; myocytes replaced by granulomatous scar tissue
--macro phago dead neutrophils and cardiac myocytes
--transition from M1 --> M2 (TGFbeta and IL-10 --> chemokines recruit fibroblasts to lay down collagen --> granulomatous tissue)
56
Detectable changes in blood chem in patients with myocardial infarct (isoforms specific to cardiac tissue)
When cardiac myocytes damaged, contents leak out to blood stream
Myoglobin (early)
CK-MB (intermed) -- one of the most reliable, early indicators of heart attack
--trauma to skeletal muscle -- also release of CK-MB
Troponin I (late -- 20-40 hrs after)
57
Atrioventricular stenosis and aging
calcification of valve and myocardium
reduces blood flow (up to 70-80%)
onset 70-80 yrs
58
What valve is most affected by calcifications/stenosis with age?
Aortic semilunar valve -- lots of pressure in left ventricle to push blood to rest of body
--more scar tissue (collagen) laid down throughout life -- calcifies with age
59
Gestational varicose vv
as fetus gains wt and size, puts pressure on common iliac vv
| prevents blood from femoral v to return to heart -- blood collects and engorges vv
60
Aneursym
balloon-like bulge in wall of blood vessel
due to weakness w/in wall (congenital, atherosclerotic, syphilitic)
true aneurysms involve all 3 tunics
61
Aortic Dissection
results from tear in tunica intima or from rupture of bc w/in tunica media
blood collects b/w intima and media and is trapped
hypertension is major risk factor
62
Atherosclerosis
occlude coronary aa --> ischemia --> cell death (myocardial infarction) --> heart failure --> death of person
63
Where is cholesterol/adipose deposited in cornonary aa?
b/w tunica intima and media
64
Steps of hypertension and hypercholesterolemia
1. hypertension damages endothelial lining
2. vasodilation -- macrophages go to tunica media
3. macrophages try to removed debris
4. damaged surface makes it easier for cholesterol coated with protein coat (LDL molec produced in liver) to enter
5. turbulent flow allows LDL molec to precipitate out of blood stream
6. LDL deposited b/w tunica media an dintima
7. macrophages try to engulf LDL -- causes macrophages to become bloated and enlarged (foamy cells)
8. vessel walls thicken
9. Collagen produced under tunica media to try to stabilize damaged surface
10. Fibrous cap produced -- stiffer wall -- narrows lumen --> dislodgement of plaque can get stuck in capillaries of lung, heart, brain
65
Surgical options for blocked coronary aa
```
balloon angioplasty (inflate lumen and compress plaques)
coronary stent (insert metal or synthetic mesh)
CABG: coronary artery bypass graft (great saphenous v or internal thoracic/mammary a)
```
66
Tonsilitis
activation of macrophages and lymphocytes in tonsilar aggregates induces hypertrophy, hyperplasia, and inflammation
tonsillectomy -- removal of paired palatine tonsils
67
Tracheo-esophageal fistula
failure of tubes to separate
90% cases: esophagus divided in cranial and caudal segment (missing part is esophageal atresia)
--cranial segment ends blindly
--caudal segment connects to trachea
68
Double aortic arch
distal R dorsal aorta persists
large R aortic arch and small L aortic arch
Vascular ring around trachea and esophagus --> compression of esophagus
69
Abnormal loss of left dorsal aorta
persistence of entire R dorsal aorta and distal R 6th arch
right aortic arch (rather than left)
may be in front of trachea/esophagus, may be in front (retropharyngeal)
70
Abnormal origin of R subclavian a
obliteration of R 4th aortic arch and proximal dorsal aorta
| abnormal R subclavian crosses midline behind esophagus
71
Thoracoepigastric v
large subcutaneous anastomotic channel
develops b/w superificial epigastric v (drains to femoral v) and lateral thoracic vein (drains to axillary v)
Provides a channel for venous blood to return to heart in event that the IVC or SVC are occluded
Grossly dilated v on superficial trunk
72
What v provides channel for venous blood to return to heart if IVC or SVC are occluded?
thoracoepigastric v
73
Cremaster reflex
test L1/L2
lightly stroke skin on superomedial thigh
testicle drawn superiorly into scrotum
(skin innervated by ilioinguinal (L1) and cremaster innervated by genitofemoral (L1/L2))
74
Types of inguinal hernias
Indirect (congenital)
Direct (acquired)
Femoral
75
Variations in cystic artery origin and course
1. 75.5%: from R hepatic a
2. 0.5% from base of R hepatic (trifurcating)
3. 24.0%: from gastroduodenal
76
Cholecystectomy
removal of gall bladder
| important to know the branching pattern of cystic a for this
77
If the inf mesenteric a is obstructed, what bv can still supply blood to hindgut?
marginal a of drummond
78
Portal hypertension
restriction of blood flow through liver
- -due to cancer, cirrhosis, other disease
- -blood can get back to IVC via 4 portacaval anastamoses
79
Esophageal varices
- -b/w left gastric v and esophageal branches of azygos and hemiazygos vv
- -often associated with cirrhosis of liver
- -blood loss due to rupture results in vomiting blood (hematemesis)
- -can be fatal
80
Caput medusae
- -related with cirrhosis of liver
| - -anastamosis b/w para-umbilical v and subcutaneous vv alongside umbilicus
81
Portasystemic shunts
artificially connect portal v to systemic circulation (treat caput medusae and esophageal varices -- ADVANCED PORTAL HYPERTENSION)
--surgically create another route for portal v blood to return to IVC
--Methods:
Side-by-side
End-to-side
Central splenorenal (attach splenic and L renal)
82
Non-rotation of midgut
midgut fails to rotate upon re-entry into abdominal intestine
SI is on R side of abdomen, colon on L side
may be asymptomatic
complication is volvulus
83
Volvulus
complication of non-rotation of midgut
| twisting of gut may compress sup mesenteric a --> gangrene of part of gut
84
Mobile cecum
large portionof asc colon does not fuse to post ab wall
may result in volvulus
cecum retains its mesocolon -- pockets in post abdominal wall in whic loops of SI may get trapped (retrocolic hernias)
85
Retrocolic hernias
complication of mobile cecum
SI gets trapped in pockets in post ab wall
often asymptomatic unless blood supply is compressed
86
```
Barrett Esophagus
Causes
Symptoms
Treatments
Pre-condition for...
```
causes: frequent exposure of esophageal tissues to gastric secretions
--normal SSqNKEp replaced by metaplastic columnar epithelium with intestinal goblet cellscan
symptoms: heartburn, regurgitation, acid taste in mouth, inc saliva production
treatments: dietary/behavioral changes, proton pump inhibitors, promotility agents, antacids
Precondition for esophageal cancer
87
Pernicious anemia
Causes: too few erythrocytes, failure to synthesize enough intrinsic factor, vit B12 deficiency, autoimmune rxn against parietal cells and intrinsic factor
Symptoms: tingling, burning on skin, tongue shiny red/sore, numbness, weak, tired, trouble breathing, limb spasms, trouble with balance at night, incontinence
Treatments: large doses of vit B12 (injection), pills, nasal spray; folic acid
88
Gastritis (acute vs. chronic)
Acute: less than 2 weeks -- acute mucosal inflammation, usually transient, sudden onset; neutrophilic inflitration
Chronic: longer than 2 weeks -- inflammation of gastric mucosa; occurs slowly over time
Causes: heavy use of NSAIDs, infection (bacterial, viral, fungal), acute stress, allergy/food poisoning, alcohol, smoking, direct trauma
Symptoms: burning epigastric distress, nausea, bloating, loss of appetite
Treatment: antacids, proton pump inhibitors or H-2 blockers, antibiotics (bacterial causes), dietary changes
89
Pyloric sphincter
thickening of inner circular layer of muscularis externa
regulates rate of chyme leaving stomach
prevents regurgitation from duodenum into stomach
90
4 modifications to inc SA of small intestines
plicae
villi
crypts of lieberkuhn
microvilli
91
Plicae vs rugae
Plicae: PERMANENT folds in SI
Rugae: TEMPRORARY folds in stomach
92
Crohn's Disease
chronic inflammatory in terminal ileum, colon
cytokines secreted by neutrophils, lymphcytes, macrophages damage mucosa, submucosa, m externa
form granulomas, fibrosis, fistulas, intestinal perforations
no known cause -- maybe disrupted gut flora?
diarrhea, pain, loss of appetite, fatigue
93
How is appendix histo diff to colon?
appendix has more lymphocytes in lamina propria than colon (otherwise histologically similar)
94
Abrupt transition in anal canal and at recto-anal junction
transition from simple columnar epithelium with goblet cells to stratified sq low keratinized at pectinate line
smooth --> skeletal muscle (voluntary control -- levator ani muscle)
transition to stratified squamous keratinized at hilton's line (anus)
95
Hemorrhoids -- internal and external
swollen vessels of the rectum or anal canal, stretched thin, irritated by passing bowel
Internal: bleeding, no pain (unless large enough to protrude out of body) -- above pectinate line
External: bleeding, painful, can cause clots -- below pectinate line
96
Oligohydramnios
too little amniotic fluid
either amnion does not make enough fluid or fetal urinary problem (inc renal agenesis -- take in amniotic fluid, then urinates into amniotic sac -- inc amount of fluid in amniotic cavity)
results in:
--intrauterine growth restriction
--pulmonary hypoplasia (reduced number of pulmonary segments/air sacs)
97
Congestive heart failure
central venous pressure
liver engorges with blood
blood flow impeded
98
Fibrotic/cirrhotic liver
lack of albumin synthesis
loss of osmotic balance
blood flow impeded
ascites (edema of abdomen)
99
Pancreatic cancer
blood flow and bile flow impeded (if cancer at head of pancreas)
100
Surface where bile canaliculi are located
apical surface
| canaliculi b/w adj hepatocytes
101
Jaundice due to unconjugated bilirubin
infant
rapid destruction of RBC in spleen
--macrophage phago RBC
--heme
--biliverdin via biliverdin reductase becomes...
--bilirubin (unconjugated) --> excess bilirubin
--yellow color
Rh factor
Inadequate metabolism/conjugation or secretion of bile from liver
Treatment: UV light (has enough energy to break apart bilirubin in blood stream so can be easily excreted)
102
Jaundice due to conjugated bilirubin
adult
malfunction in biliary tract
gut excretion or absorption
Bilirubin from spleen + albumin from liver
hepatocytes (bilrubin detached from albumin)
bilifubin binds ligandin
SER
conjugated (bilirubin + glucoronide
bile canaliculus
bile ducts
duodenum
mixed with chyme
gut flora convert bilirubin --> urobilinogen
excreted in feces as stercobilin OR
urobilinogen reabsorbed (hepatic protal sys --> liver-->heart --> kidneys --> urine)
103
Cholesterosis
macrophages in lamina propria of gallbladder filled with cholesterol esters and triglycerides
supersaturation of cholesterol w/o inc serum cholesterol
fatty deposits in gallbladder mucosa
104
Cholesterosis
macrophages in lamina propria of gallbladder filled with cholesterol esters and triglycerides
supersaturation of cholesterol w/o inc serum cholesterol
fatty deposits in gallbladder mucosa
105
Gallstones
AKA cholelithiasis
composed mostly of cholesterol
due to processes that allow cholesterol to precipitate from solution in bile
can block bile flow
may lead to cholecystitis (inflammation of gallbladder) or obstruction of bile ducts -- leads to jaundice
106
Cholelithiasis vs cholecystitis
Cholelithiasis: gallstones
Cholecystits: inflammation of gallbladder (gallstones can lead to inflammation, also blockage of bile ducts)
107
Pancreatitis
inflammation of pancreas that occurs when pancreatic enz (especially trypsin) become active in pancreas instead of the small intestine (acute or chronic)
pancreatic cells cannot regenerate
108
Type I and II diabetes
Type I AKA juvenile
--body does not produce enough insulin b/c beta cells destroyed by autoimmune, toxin, trauma
--daily insulin injections
--children/young adults
Type II AKA adult onset
--body develops insulin resistance coupled with deficiency in insulin production
--over 40 yrs, overwt, family history of diabetes
109
Psoas abcess
Psoas major susceptible to infection due to rich blood supply and proximity to lumbar lymphatic channels
--S. aureus (tuberculosis historically)
Symptoms
--pain during hip flexion
--ab pain and lower back pain
--pos psoas sign (ab pain when flexing/extending hip against resistence)
Can become abcess and spread to inguinal lig --> thigh --> femoral ring (can be mistaken for femoral hernia)
110
Psoas test
flex/extend hip against resistence (concentric and eccentric contraction)
used to test for psoas abscess
111
Abdominal aortic aneurysm
Pathological vs need repair
Risk factors
Symptoms
Pathological when diameter > 3 cm
Needs to be repaired when diameter > 5 cm
Most common in males 60 yrs and older with family history disease
Inc risk if smoker
Symptom: sudden onset of ab/lower back pain, pulsatile abdominal mass
112
Testicular varicocele
large dilation of vv in pampiniform plexus -- varicose
left side 90% of the time
15% of adolescents
113
Renal calculi
kidney stones
accretions of salts from inorganic and organic acids filtered from the blood
stones formed in kidney eventally pass to renal pelvis and the ureter -- get caught
Intermittent, but severe ab pain with digestive upset
Treatment: nephroscope (endoscopic procedure) or lithotripsy (shock waves)
114
```
Autosomal polycystic kidney disease
cause
symptoms
result
treatment
```
Cause: mutations in PKD-1 or PKD-2
--encode polysystin-1 and -2
Water-filled cysts on kidney surface -- due to dilation of collecting ducts, segments of nephron
Defects in mechanosensing on cilia
Symptoms
--flank pain
--hypertension
--large kidneys
--progressive renal failure after 30-40 yrs of age
--destruction of kidney parenchyma
Treatment: dialysis, transplantation (ultimately fatal)
115
DiGeorge syndrome
deletion of 35-45 genes on the long arm of chromosome 22
AKA 2a11.2 syndrome
1:2000-1:4000 live births
"CATCH-22" mneumonic for signs associated with syndrome
--Cardiac abnormality (Tetrology of Fallot)
--Abnormal facies
--Thymic aplasia (chronic, recurrent viral, fungal infections)
--Cleft palate
Hypocalcemia/hypoparathyroidism
116
Skull molding
reshape head after vaginal birth through narrow pelvis
117
Colon cancer location
Tumor ABOVE pectinate line
--metastasize to internal iliac nodes
--difficult to reach, puts autonomic plexus at risk during operation
Tumor BELOW pectinate line
--metastasize to superficial inguinal nodes
--easy to palpate and remove
118
Internal vs external hemorrhoids
Internal: above pectinate line, bleed (arterial and venous), not painful
--due to prolapse of vascular mats
External: below pectinate line, don't bleed, painful
--venous clots due to high pelvic pressure
119
Cryptitis
inflammation of crypt inside intestines
| --can perforate mucosa and lead to ischioanal abscess
120
Ischioanal abscess
spread from small lesion in mucosa of anal canal (due to hardened fecal materal)
- -discomfort similar to hemorrhoids
- -draining can put branches of pudendal n and n to obturator internus at risk
121
Male circumcision
```
remove prepuce
most common surgery in US but declining in freq
done by OB
newborns can't experience pain
limit promiscuous behavior
Cure epilepsy/TB
Judaism, Islam
Uncommon in industrialized countries except US
lower probability of acquiring HIV
```
122
Hematocopometra
menstrual fluids accumulate in vagina due to lack of perforations in hymen
123
Female circumcision
```
removal of clitoris, labia minora/major
closure of wound -- fusion of tissue over vaginal orifice (small opening for urine and menstrual fluids)
Africa
enhance purity and modesty
control sexual behavior
during ceremonies before puberty
```
124
Episiotomy
surgical enlargement of vaginal opening during childbirth as head of infant is already visible
prevent tearing of perineum
125
Choriocancinoma
pt age: 20-30 yrs
cytotrophoblast and synctiotrophoblast w/o villus formation
100% of pts have elevated hCG (pregnancy hormone)
Symptoms
--small, hardened, painless nodule not palpable through scrotal sac wall
--multiple nuclei/cytoplasmic mass (microscope)
--blood vessel hemorrhage
--leukocyte inflitration
--invasive/ high rate of metastasis
Treatmet: radical orchiectomy (removal of testicle), aggressive chemo
126
Congenital cystic kidney
collecting tubules and excretory tubules fail to fuse, or their connection degenerates
- -urine accumulates in distal part of excretory tubules --> swell --> form cysts
- -cysts compress adj nephra
127
Urachal fistuala
if allantois does not obliterate, lumen remains patent
| urine leaks through urachal fistula
128
Urachal fistula vs umbilico-ileal fistula -- contents leaking
urachal: urine
| umbilico-ileal: feces
129
Testicular feminization syndrome
even though testes present, external female genitalia form even though person is XY
- -due to maternal hormones passing in bloodstream of fetus through placenta
- -undergo puberty externally as female, but do not menstruate, do not have female internal organs
- -usually raised as female
130
Uterus didelphys
failure of L and R paramesonephric ducts to fuse
| --2 uteri
131
Bicornuate uterus
septum divides uterine cavity
| --less severe than uterus didlphys
132
Down syndrome
```
Trisomy 21
Microgenia (abnormally small chin)
Neotenization of brain and body (remains immature)
Muscle hypotonia
Flat and broad facial features
Brushfield spots on iris
Congenital heart abnormalities -- live to 50 yrs
Big toes widely spaced
```
133
Edward's syndrome
```
Trisomy 18
Microcephaly (small skull, brain)
Micrognathia (smaller mandible)
Ocular hypertelorism (inc distance b/w eyes)
Rocker-bottom feet
Prominent occiput
Kidney malformations
Omphalocele
Cognitive disorders
```
134
Patau's syndrome
```
Trisomy 13
Cleft lip/palate
Mental retardation
Microcephaly
Polydactyly
Microphthalmia (single eye)
Rocker-bottom feet
Holoprosencephaly (failure of embryonic prosencephalon AKA forebrain to divide into cerebral hemispheres)
```
135
Cri du chat syndrome
```
partial deletion of chromosome 5
cat like cry
orbital hypertelorism
malformed larynx
difficulties swallowing/sucking
microcephaly
cogn, speech, motor delays
hyperactivity
aggression
repetitive mvmts
```
136
Turner syndrome (gonadal dysgenesis)
```
single X
gonadal dysfunction
amenorrhea (no menstruation)
reduced estrogen production
hypothyroidism
cog deficits
low post hairline
webbed neck and extra skin
wide-set nipples
discolored spots on skin
swollen hands
```
137
Klinefelter's syndrome
```
XXY
reduced testosterone production
hypogonadism (small internal gonads)
microorchidism (small testicles)
gynecomastia (breast development)
weaker bones/muscles
```
138
Prader-Willi syndrome
Maternal chromsome 15 a-arm: DNA methylation
Paternal chromosome 15: same region is deleted
in all body cells
driven to eat constantly
jaundice
cognitive delays
139
Angelman's syndrome
Paternal chromosome 15 q-arm: methylation
Maternal chromosome 15: deletion in same region
laugh at inappropriate times
distinctive facial features
characteristic smile
"happy puppet syndrome"
140
Hormones released during birth loosen what joints?
sacro-iliac
pubic symphysis
* this inc transverse diameter 10-15%
* obstetrical conjugate not affected (most narrow dimension during childbirth)
141
Hypospadias
failure of urethral folds to fuse in male
leakage of urine during urination
external urethral orifice on ventral side of penis
142
Epispadias
formation of genital tubercle too far caudal in male, causing part of the cloacal membrane to form cranial to the tubercle, leading to an open groove on the dorsal side of the penis
143
Supernumery renal a
one of the fetal aa supplying the kidney did not reduce
no anastamoses b/w these 2 aa
25% of people
144
Pelvic kidney
fails to ascend
paired aa continue to perfuse -- branch from aorta far caudally
pelvic kidneys may drain poorly and lead to hydrophenrosis or may be asymptomatic
--can rupture during birth (child compress/crushes pelvic kidney)
145
Hydronephrosis
obstruction of ureter causing the renal pelvis and calyces to fill w/ urine and drain poorly
- - poor function of nephra due to compression
- -associated w/ pelvic kidney
146
Horseshoe kidney
formed as L and R kidneys come in contact during ascent and fuse
--trapped by IMA -- obstructs ascent
147
Congenital inguinal hernia
if connection b/w vaginal process and peritoneal cavity does not obliterate, intestinal loops may herniate into it through the inguinal canal
148
Cryptorchism
one testis fails to descend to scrotum
| sterility of non-descended testis due to higher temp
