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OMS 1 > Exam Block 2 > Flashcards

Exam Block 2 Flashcards

1
Q

Trisomy 21

A

Downs Syndrome
95% non disjunction 5% robertsonian translocation

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2
Q

Trisomy 18

A

Edward Syndrome
Prenatal growth deficit, prominent occiput, clindactyly, rocker bottom feet
50% survive a few weeks 5% survive to 1 year

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3
Q

Trisomy 13

A

Patau Syndrome
Oral facial cleft, postaxial polydactyly, malformations of CNS, cutaneous scalp lesions
5% survive 1 year

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4
Q

Monosomy X

A

Turners Syndrome
Mosaicism increase risk gonadoblastoma, short, webbed neck, heart defects, low estrogen leads to increased osteoporosis

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5
Q

47XXY

A

Klinefelter Syndrome
Tall, long limbs, low testosterone, mosaicism increases fertility

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6
Q

Trisomy X

A

Fairly benign, some infertility, more Xs seen more problems
90% maternal nondisunction

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7
Q

47 XYY

A

Tall, small IQ reduction, more in prison, increased behavior disorders

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8
Q

Cri du chat

A

Deletion 5p15.2
Cat like cry, growth delayed, microcephaly, very low IQ

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9
Q

Wolf Hirschhorn

A

Terminal deletion 4p
Growth retardation, facial dysmorphism, severe intellectual disability

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10
Q

WAGR

A

Microdeletion 11p
Wilms tumor, aniridia, genitourinary abnormalities intellectual disability

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11
Q

Williams Syndrome

A

Microdeletion 7q11.23
Vascular problems, outgoing, periorbital fullness, short nose, large mouth, IQ 40-80

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12
Q

Smith Magenis

A

Microdeletion 17p11.2 or mutation of RAI1 gene in the same region
Prone to self injury, reverse circadian rhythm, self hugging

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13
Q

Philadelphia chromosome

A

9:22 translocation in cml
Alter abl protooncogene
Oncogene activation

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14
Q

Burkitt lymphoma

A

8:14 translocation
Myc protooncogene near Ig heavy chain, activates myc
Malignant transformation

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15
Q

Neurofibromatosis

A

Autosomal dominant
Variable expression, cafe au lait spots

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16
Q

Pleiotropy

A

Multiple effects from 1 mutation

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17
Q

Allelic heterogeneity

A

Multiple mutant forms have different effects on same gene

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18
Q

Locus heterogeneity

A

Multiple genes effect 1 pathway

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19
Q

Protein electrophoresis

A

Variation due to migration rate caused by differences in overall protein change

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20
Q

Restriction enzymes and southern blotting

A

Couple bacterial restriction enzymes with electrophoresis and probe that binds DNA fragments for visualizations of changes in DNA migration patterns

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21
Q

Nernst Equation

A

Ex=-61log(concin/concout)

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22
Q

Beta 1 receptors

A

Heart (sympathetic NE)

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23
Q

N1 receptors

A

Skeletal muscle (excitatory)

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24
Q

N2 receptors

A

Receptors on postganglionic cell (excitatory)

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25
Q

polymerase chain reaction (PCR)

A

amplify microsatellites, capillary electrophoresis, flourescent labels

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26
Q

dideoxy method

A

deoxynucleotides lacking hydroxyl group result in no additional nucleotides being able to be added
“Sanger sequencing” - see mutation up to point, check beyond the break

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27
Q

fluorochrome

A

labeled primers or dideoxynucleotides emit a distinct spectrum of light

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28
Q

microarrays

A

test many genes at 1 time, scan with a laser, read fluorescence

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29
Q

natural selection

A

survival or reproductive advantage

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30
Q

genetic drift

A

change with time

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31
Q

gene flow

A

mixing populations

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32
Q

founder effect

A

small population, mutations have large effects

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33
Q

hemophilia

A

X-linked recessive
defect in facto VIII gene on X

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34
Q

duchenne muscular dystrophy

A

severe and progressive; DMD gene entirely absent
becker MD form with altered dytrophin

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35
Q

color blindness

A

X-linked recessive
caused by unequal crossing over

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36
Q

hypophosphatemic rickets

A

X-linked dominant
kidneys cant reabsorb phosphate

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37
Q

incontinentia pigmenti

A

X-linked dominant
abnormal skin pigmentation and teeth
neurological/ocular abnormalities

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38
Q

rett syndrome

A

X-linked dominant
autism, ataxia, intellectual disability and development

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39
Q

Y chromosome inheritance

A

father son transmission
holandric

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40
Q

heteroplasmy

A

mitochondrial mutation only present in some

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41
Q

leber hereditary optic neuropathy (LHON)

A

mitochondrial mutation
optic nerve death in third decade, missense mutation

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42
Q

myoclonic epilepsy with ragged red fibers (MERRF)

A

mitochondrial mutation
single base changes in tRNA
heteroplasmic with variable expression

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43
Q

mitochondrial encephalomyopathy and stroke like episodes (MELAS)

A

mitochondrial mutation
single base mutation in tRNA
heteroplasmic with variable expression

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44
Q

genomic imprinting

A

chromosome regions methylated differently in sperm vs ova
different expression from maternal and paternal chromosomes

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45
Q

angelmans syndrome

A

maternal deletion and paternal imprinting

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46
Q

Prader willi

A

paternal deletion and maternal imprinting (eat everything)

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47
Q

fragile X syndrome

A

most common inherited intellectual disability: FMR gene (5-60 normal, >230 affected)
normal transmitting males (50-230)
mothers of NTMs have less affected daughter than daughters of NTMs

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48
Q

autosomal dominant dissorders

A

retinoblastoma
postaxial polydactyly
achondroplasia

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49
Q

autosomal recessive disorders

A

albinism
cystic fibrosis (CFTR mutation deltaF508)

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50
Q

southern blots

A

test DNA

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51
Q

northern blots

A

test RNA

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52
Q

western blots

A

test protein

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53
Q

restriction fragment length polymorphisms (RFLPs)

A

change restriction site and site of fragment the probe recognizes (sickle cell disrupts MstII site)

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54
Q

DNA fingerprinting

A

southern blotting after restriction digestion of DNA (VNTRs)

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55
Q

allele specific oligonucleotide probes

A

must know mutation sequence

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56
Q

variable number tandem repeats (VNTRs)

A

individual genetics vary

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57
Q

genome wide association study (GWAS)

A

can screen many markers, such as single nucleotide plymorphisms (SNPs)

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58
Q

week 4 of development will the body be closed?

A

yes except umbilical region

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59
Q

foregut blood supply and innervation

A

celiac trunk, greater splanchnic nerve (T5-9), vagus nerve

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60
Q

midgut blood supply and innervation

A

superior mesenteric artery, lesser splanchnic nerve (T10-11) and least splanchnic nerve (T12), vagus nerve

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61
Q

hindgut blood supply and innervation

A

inferior mesenteric artery, lumber splanchnic nerves (L1-3), pelvic splanchnic verves (S2-4)

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62
Q

septum transversum

A

what embryologically seperates the thorax and abdomen, becomes central tendon in adult diaphram

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63
Q

embryological gut tube has 3 openings

A

stonoduem, umbilical vesical with umbilical artery and vein, anal pit

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64
Q

cloaca

A

tube with both urinary and GI openings attached

65
Q

thorax and abdomen development

A
  1. pleural and peritoneal cavities are continuous by way of pleuroperitoneal canals
  2. pleuroperitoneal folds grow medially in inferior mediastinum closing the space
  3. additional rim of body wall mesenchyme completes the primitive diaphram
  4. somatic myoblasts form the muscular portion of the diaphram
  5. lungs form in pleural cavity to surround the pericardial cavity
66
Q

congenital diaphragmatic hernia

A

intestine bulges up into diaphram and compresses lung

67
Q

mesentery

A

2 layers of peritoneum that extends from visceral to parietal peritoneum

68
Q

greater omentum

A

doubled over dorsal mesentery
4 layer omentum of greater curvature of stomach

69
Q

lesser omentum

A

portion of ventral mesentary extending from the liver to the lesser curvature of the stomach (2 layers)

70
Q

falciform ligament

A

ventral mesentery and contains ligamentum teres (obliterated umbilical vein)

71
Q

stomach rotates how much in development

A

90 degrees

72
Q

duodenal stenosis

A

restriction of tube, vacuoles invade and help open it again

73
Q

atresia

A

no vacuales invade, completely closed off
esophagus, duodenum, ileum, extrahepatic biliary, anorectal

74
Q

developing liver

A

umbilical vein obliterates
peritoneum btwn the liver and the diaphram rubs away creating a bare area

75
Q

developing pancreas

A

originally has a dorsal and ventral bud that fuse
can have annular pancrease with the bile duct wrapped around the duodenum

76
Q

developing gallbladder

A

bile duct entrance into duodenum gradually shifts posterior

77
Q

dividing line of foregut and midgut

A

pancreatic duct in duodenum

78
Q

development of midgut

A

primary intestinal loop elongates, herniates, rotates and retracts
can have malrotations

79
Q

omphalocele

A

GI organs dont completely return to abdominal cavity

80
Q

heal (meckels) diverticulum

A

remainder of yold talk, can become inflammed, may be connected to umbilicus by fibrous cord

81
Q

development of hindgut

A

urorectal septum grows into cloaca
infolding of cloacal wall
continuation of postanal gut

82
Q

pectinate line

A

seperates superior 2/3 and inferior 1/3 of anal canal
above has endoderm, venous return to IVC, lymph to inferior mesenteric lymph nodes
below has ectoderm, venous return to inferior rectal veins, lymph to superficial inguinal nodes

83
Q

mcburneys point

A

1/2 the way from ASIS to umbilicus, diagnostic tool for appendicitis

84
Q

lateral abdominal muscles

A

external oblique
internal oblique
transversus abdominus

85
Q

external oblique

A

T7-12 and subcostal nerves
lower 8 ribs to linea alba, iliac crest, and pubic tubercle
forms inguinal ligament, superficial inguinal ring, lacunar ligament, and pectineal ligament

86
Q

internal oblique

A

T6-12 and L1
iliac cresst, thoracolumbar fascia, and inguinal ligament to linea alba, inferior ribs 10-12, and conjoint tendon
conjoint tendon, cremaster muscle and fascia

87
Q

transversus abdominus

A

T6-12 and L1
internal surface of costal cartilage of ribs 7-12, inguinal ligament, thoracolumbar fascia to linea alba, pubic crest, pectin pubis via conjoint tendon
deep inguinal ring, spermatic cord

88
Q

anterior abdominal muscles

A

rectus abdominus
pyramidalis

89
Q

rectus abdominus

A

T6-12
pubic symphysis and pubic crest to xiphoid process and 5-7th costal cartilages

90
Q

pyramidalis

A

anterior ramus of T12
front of pubis and pubic symphysis to linea albo

91
Q

inguinal canal contents

A

genitofemoral nerve, spermatic cord in men, round ligament in women, ilioinguinal nerves pass through

92
Q

anterior wall of inguinal canal

A

external oblique and internal oblique

93
Q

posterior wall of inguinal canal

A

transversalis fascia and conjoint tendon

94
Q

roof on inguinal canal

A

transversalis abdominus and internal oblique

95
Q

floor of inguinal canal

A

inguinal ligament and lacunar ligament

96
Q

rectus sheath

A

anterior and posterior for upper 3/4
below arcuate line just anterior

97
Q

arcuate line

A

1/2 way between ubilicus and pubic symphysis

98
Q

rectus abdominus tendons intersections

A

xiphoid
1/2 way between xiphoid and umbilicus
umbilicus

99
Q

thoracoabdominal nerve

A

T7-11
muscles of anterolateral abdominal wall and overlying skin

100
Q

7th-9th lateral cutaneous branches

A

skin on left and right hypochondriac region (7th-9th subcostal nerves)

101
Q

subcostal nerve

A

spinal nerve T12
muscles of anterolateral abdominal wall, between iliac crest and umbilicus and overlying skin

102
Q

iliohypogastric (L1)

A

skin over iliac creast, upper inguinal region, hypogastric region
internal oblique and transversalis abdominus

103
Q

ilioinguinal (L1)

A

skin over inguinal region, mons pubis, medial thigh
inferior most external oblique and transversalis abdominus

104
Q

musculophrenic artery

A

superficial and deep abdominal wall of the hypochondriac region and anterolateral diaphram

105
Q

superior epigastric artery

A

rectus abdominus, superficial and deep abdominal wall of epigastric and upper umbilical region

106
Q

10/11th posterior intercostal arteries

A

superficial and deep abdominal wall of lateral lumbar or flank region (subcostal arteries)

107
Q

inferior epigastric artery

A

rectus abdominus, deep abdominal wall of pubic and inferior umbilical region

108
Q

deep circumflex iliac artery

A

iliacus muscle, deep abdominal wall of inguinal region

109
Q

superficial circumflex artery

A

superficial abdominal wall of inguinal region and anterior thigh

110
Q

superficial epigastric artery

A

superficial abdominal wall of pubic and inferior umbilical region

111
Q

superficial veins

A

superior into axillary
inferior into femoral

112
Q

deep veins

A

superior epigastric into internal thoracic
inferior epigastric and medial circumflex into external iliac
posterior intercostal and subcostal into azygos/hemiazygos/accessory
lumbar into inferior vena cava

113
Q

median umbilical fold

A

median umbilical ligament and para umbilical vein (obliterated urachus)

114
Q

medial umbilical fold

A

medial umbilical ligament and obliterated umbilical artery

115
Q

lateral umbilical fold

A

lateral umbilical ligament and inferior epigastric vessels

116
Q

stomach held in place by what

A

phrenoesophageal ligament

117
Q

achlasia

A

failure of lower esophageal sphincter to relax and lower esophagus to contract when swallowing

118
Q

sliding hiatal hernia

A

gastroesophageal junction and part of stomach protrude into chest, often only in chest when swallowing

119
Q

paraesophageal hernia

A

gastroesophageal junction stays in place and part of stomach bulges into chest next to esophagus

120
Q

duodenum parts

A
  1. superior (L1) no folds
  2. descending (L2) papilla
  3. horizontal (L3)
  4. ascending
121
Q

retroperitoneal

A

S - suprarenals
A - aorta/IVC
D - duodenum (2nd, 3rd, 4th parts)
P - pancreas
U - ureters
C - colon (ascending and descending)
K - kidneys
E - esophagus
R - rectum

122
Q

lesser omentum ligaments

A

hepatogastric
hepatoduodenal

123
Q

greater omentum ligaments

A

gastrophrenic
gastrosplenic
gastrocolic

124
Q

infracolic space

A

between colon and base of mesentery
hepatorectal pouch
rectouterine pouch

125
Q

celiac trunk

A

Salt (splenic artery)
Lake (Left gastric)
City (common hepatic)

126
Q

splenic artery

A

pancreatic branches
short gastric (fundus)
left gastroepiploic (greater curve)

127
Q

left gastric artery

A

esophageal branch
gastric branches (lesser curve)

128
Q

common hepatic artery

A

proper hepatic (gives right gastric to lesser curve, left and right hepatic, right hepatic gives cystic)
gastroduodenal (gives right gastroepiploic to greater curve and superior pancreaticoduodenal to head of pancreas)

129
Q

portal system

A

inferior mesenteric vein into splenic vein into superior mesenteric vein into portal vein
gastric vein into portal vein
hepatic veins into IVC to heart

130
Q

superior mesenteric artery

A

inferior pancreaticoduodenal
jejuno and ilial arteries
ileocecal
right colic (ascending colon)
middle colon (transverse colon)

131
Q

ligametn of treitz

A

where duodenum comes intraperitoneal, duodenojejunal junction

132
Q

jejunum

A

less aarcades, longer vasa recta, and longer and more numerous plicae

133
Q

ileum

A

more arcades, shorter vasa recta, shorter less numerous plicae

134
Q

tenia coli

A

longitudinal muscles of large intestine

135
Q

intussusception

A

part of intestine folds into section next to it

136
Q

portal hypertension

A

esophageal varices
caput medusa
splenomegaly
hemorrhoids

137
Q

cecal recesses

A

spaces formed by peritoneum around cecum
superior, inferior, retro

138
Q

inferior mesenteric artery

A

left colic (descending colon)
sigmoid (sigmoid colon)
superior rectal (above pectinate line)i

139
Q

ischemic colitis

A

areas of colon most sensitive to decreased blood flow and are more likely to suffer from ischemia
splenic flexure, sigmoid colons

140
Q

rectal arteries

A

superior (inferior mesenteric)
middle (internal iliac)
inferior (internal pudendal)

141
Q

spleen location

A

ribs 9,10,11

142
Q

dorsal vs ventral mesentary

A

if it touches liver = ventral
if it doesnt = dorsal

143
Q

liver impressions

A

gastric
esophageal
renal
suprarenal
colic

144
Q

liver lobes

A

left, right, caudate, quadrate

145
Q

pancreatic ducts

A

main joins common bile duct to enter major papilla
accessory enters minor

146
Q

abdominal lymphatics

A

celiac node FG
superior mesenteric nodes MG
inferior mesenteric nodes HG
lumbar nodes kidneys, adrenals, testes, ovaries, uterus, common iliac nodes

147
Q

structures in hepatoduodenal lig

A

posterior: portal vein
medial: proper hepatic artery
lateral: common bile duct

148
Q

diaphram openings

A

Caval opening at T8
Esophageal hiatus at T10
aortic hiatus at T12

149
Q

diaphram ligaments

A

median - with crura form aortic hiatus
medial - thickening psoas fascia, lumbar bodies to L1 transverse processes
lateral - covers quadratus lumborum, T12 transverse process to 12th rib

150
Q

posterior abdominal wall muscles

A

psoas major
psoas minor
iliacus
quadratus lumborum

151
Q

psoas major

A

L1,2,3
transverse process or lumbar vertibrae (side of T12-L5) to lesser trochanter

152
Q

psoas minor

A

L1
sides of T12-L1 to pectineal line

153
Q

iliacus

A

L2,3,4
iliac fossa to lesser trochanter

154
Q

quadratus lumborum

A

T12, L1,2,3,4
medial 12th rib to iliolumbar ligaments

155
Q

lumbar plexus nerves

A

obturator (anterior L2,3,4)
femoral (posterior L2,3,4)
genitofemoral (anterior surface L1,2)
lateral cutaneous nerve of thigh (Posterior L2,3)
iliohypogastric (L1), Ilioinguinal (L1)

156
Q

aorta arteries

A

unparied: celiac trunk, superior mesenteric, inferior mesenteric
paired lateral: suprarenal, renal, gonadal
paired posterolateral: subcostal, inferiorphrenic, lumbar

157
Q

left side abdominal veins

A

gonadal and suprarenal flow into renal

158
Q

lymphatics

A

flow anitparallel to arteries
go to cysterna cgyli to thoracic duct throught aortic hiatus

OMS 1 (6 decks)

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