Exam Block 2 Flashcards
1
Q
Trisomy 21
A
Downs Syndrome
95% non disjunction 5% robertsonian translocation
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
3
Q
Trisomy 13
A
Patau Syndrome
Oral facial cleft, postaxial polydactyly, malformations of CNS, cutaneous scalp lesions
5% survive 1 year
4
Q
Monosomy X
A
Turners Syndrome
Mosaicism increase risk gonadoblastoma, short, webbed neck, heart defects, low estrogen leads to increased osteoporosis
5
Q
47XXY
A
Klinefelter Syndrome
Tall, long limbs, low testosterone, mosaicism increases fertility
6
Q
Trisomy X
A
Fairly benign, some infertility, more Xs seen more problems
90% maternal nondisunction
7
Q
47 XYY
A
Tall, small IQ reduction, more in prison, increased behavior disorders
8
Q
Cri du chat
A
Deletion 5p15.2
Cat like cry, growth delayed, microcephaly, very low IQ
9
Q
Wolf Hirschhorn
A
Terminal deletion 4p
Growth retardation, facial dysmorphism, severe intellectual disability
10
Q
WAGR
A
Microdeletion 11p
Wilms tumor, aniridia, genitourinary abnormalities intellectual disability
11
Q
Williams Syndrome
A
Microdeletion 7q11.23
Vascular problems, outgoing, periorbital fullness, short nose, large mouth, IQ 40-80
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
13
Q
Philadelphia chromosome
A
9:22 translocation in cml
Alter abl protooncogene
Oncogene activation
14
Q
Burkitt lymphoma
A
8:14 translocation
Myc protooncogene near Ig heavy chain, activates myc
Malignant transformation
15
Q
Neurofibromatosis
A
Autosomal dominant
Variable expression, cafe au lait spots
16
Q
Pleiotropy
A
Multiple effects from 1 mutation
17
Q
Allelic heterogeneity
A
Multiple mutant forms have different effects on same gene
18
Q
Locus heterogeneity
A
Multiple genes effect 1 pathway
19
Q
Protein electrophoresis
A
Variation due to migration rate caused by differences in overall protein change
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
21
Q
Nernst Equation
A
Ex=-61log(concin/concout)
22
Q
Beta 1 receptors
A
Heart (sympathetic NE)
23
Q
N1 receptors
A
Skeletal muscle (excitatory)
24
Q
N2 receptors
A
Receptors on postganglionic cell (excitatory)
25
polymerase chain reaction (PCR)
amplify microsatellites, capillary electrophoresis, flourescent labels
26
dideoxy method
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
27
fluorochrome
labeled primers or dideoxynucleotides emit a distinct spectrum of light
28
microarrays
test many genes at 1 time, scan with a laser, read fluorescence
29
natural selection
survival or reproductive advantage
30
genetic drift
change with time
31
gene flow
mixing populations
32
founder effect
small population, mutations have large effects
33
hemophilia
X-linked recessive
defect in facto VIII gene on X
34
duchenne muscular dystrophy
severe and progressive; DMD gene entirely absent
becker MD form with altered dytrophin
35
color blindness
X-linked recessive
caused by unequal crossing over
36
hypophosphatemic rickets
X-linked dominant
kidneys cant reabsorb phosphate
37
incontinentia pigmenti
X-linked dominant
abnormal skin pigmentation and teeth
neurological/ocular abnormalities
38
rett syndrome
X-linked dominant
autism, ataxia, intellectual disability and development
39
Y chromosome inheritance
father son transmission
holandric
40
heteroplasmy
mitochondrial mutation only present in some
41
leber hereditary optic neuropathy (LHON)
mitochondrial mutation
optic nerve death in third decade, missense mutation
42
myoclonic epilepsy with ragged red fibers (MERRF)
mitochondrial mutation
single base changes in tRNA
heteroplasmic with variable expression
43
mitochondrial encephalomyopathy and stroke like episodes (MELAS)
mitochondrial mutation
single base mutation in tRNA
heteroplasmic with variable expression
44
genomic imprinting
chromosome regions methylated differently in sperm vs ova
different expression from maternal and paternal chromosomes
45
angelmans syndrome
maternal deletion and paternal imprinting
46
Prader willi
paternal deletion and maternal imprinting (eat everything)
47
fragile X syndrome
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
48
autosomal dominant dissorders
retinoblastoma
postaxial polydactyly
achondroplasia
49
autosomal recessive disorders
albinism
cystic fibrosis (CFTR mutation deltaF508)
50
southern blots
test DNA
51
northern blots
test RNA
52
western blots
test protein
53
restriction fragment length polymorphisms (RFLPs)
change restriction site and site of fragment the probe recognizes (sickle cell disrupts MstII site)
54
DNA fingerprinting
southern blotting after restriction digestion of DNA (VNTRs)
55
allele specific oligonucleotide probes
must know mutation sequence
56
variable number tandem repeats (VNTRs)
individual genetics vary
57
genome wide association study (GWAS)
can screen many markers, such as single nucleotide plymorphisms (SNPs)
58
week 4 of development will the body be closed?
yes except umbilical region
59
foregut blood supply and innervation
celiac trunk, greater splanchnic nerve (T5-9), vagus nerve
60
midgut blood supply and innervation
superior mesenteric artery, lesser splanchnic nerve (T10-11) and least splanchnic nerve (T12), vagus nerve
61
hindgut blood supply and innervation
inferior mesenteric artery, lumber splanchnic nerves (L1-3), pelvic splanchnic verves (S2-4)
62
septum transversum
what embryologically seperates the thorax and abdomen, becomes central tendon in adult diaphram
63
embryological gut tube has 3 openings
stonoduem, umbilical vesical with umbilical artery and vein, anal pit
64
cloaca
tube with both urinary and GI openings attached
65
thorax and abdomen development
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
congenital diaphragmatic hernia
intestine bulges up into diaphram and compresses lung
67
mesentery
2 layers of peritoneum that extends from visceral to parietal peritoneum
68
greater omentum
doubled over dorsal mesentery
4 layer omentum of greater curvature of stomach
69
lesser omentum
portion of ventral mesentary extending from the liver to the lesser curvature of the stomach (2 layers)
70
falciform ligament
ventral mesentery and contains ligamentum teres (obliterated umbilical vein)
71
stomach rotates how much in development
90 degrees
72
duodenal stenosis
restriction of tube, vacuoles invade and help open it again
73
atresia
no vacuales invade, completely closed off
esophagus, duodenum, ileum, extrahepatic biliary, anorectal
74
developing liver
umbilical vein obliterates
peritoneum btwn the liver and the diaphram rubs away creating a bare area
75
developing pancreas
originally has a dorsal and ventral bud that fuse
can have annular pancrease with the bile duct wrapped around the duodenum
76
developing gallbladder
bile duct entrance into duodenum gradually shifts posterior
77
dividing line of foregut and midgut
pancreatic duct in duodenum
78
development of midgut
primary intestinal loop elongates, herniates, rotates and retracts
can have malrotations
79
omphalocele
GI organs dont completely return to abdominal cavity
80
heal (meckels) diverticulum
remainder of yold talk, can become inflammed, may be connected to umbilicus by fibrous cord
81
development of hindgut
urorectal septum grows into cloaca
infolding of cloacal wall
continuation of postanal gut
82
pectinate line
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
mcburneys point
1/2 the way from ASIS to umbilicus, diagnostic tool for appendicitis
84
lateral abdominal muscles
external oblique
internal oblique
transversus abdominus
85
external oblique
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
internal oblique
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
transversus abdominus
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
anterior abdominal muscles
rectus abdominus
pyramidalis
89
rectus abdominus
T6-12
pubic symphysis and pubic crest to xiphoid process and 5-7th costal cartilages
90
pyramidalis
anterior ramus of T12
front of pubis and pubic symphysis to linea albo
91
inguinal canal contents
genitofemoral nerve, spermatic cord in men, round ligament in women, ilioinguinal nerves pass through
92
anterior wall of inguinal canal
external oblique and internal oblique
93
posterior wall of inguinal canal
transversalis fascia and conjoint tendon
94
roof on inguinal canal
transversalis abdominus and internal oblique
95
floor of inguinal canal
inguinal ligament and lacunar ligament
96
rectus sheath
anterior and posterior for upper 3/4
below arcuate line just anterior
97
arcuate line
1/2 way between ubilicus and pubic symphysis
98
rectus abdominus tendons intersections
xiphoid
1/2 way between xiphoid and umbilicus
umbilicus
99
thoracoabdominal nerve
T7-11
muscles of anterolateral abdominal wall and overlying skin
100
7th-9th lateral cutaneous branches
skin on left and right hypochondriac region (7th-9th subcostal nerves)
101
subcostal nerve
spinal nerve T12
muscles of anterolateral abdominal wall, between iliac crest and umbilicus and overlying skin
102
iliohypogastric (L1)
skin over iliac creast, upper inguinal region, hypogastric region
internal oblique and transversalis abdominus
103
ilioinguinal (L1)
skin over inguinal region, mons pubis, medial thigh
inferior most external oblique and transversalis abdominus
104
musculophrenic artery
superficial and deep abdominal wall of the hypochondriac region and anterolateral diaphram
105
superior epigastric artery
rectus abdominus, superficial and deep abdominal wall of epigastric and upper umbilical region
106
10/11th posterior intercostal arteries
superficial and deep abdominal wall of lateral lumbar or flank region (subcostal arteries)
107
inferior epigastric artery
rectus abdominus, deep abdominal wall of pubic and inferior umbilical region
108
deep circumflex iliac artery
iliacus muscle, deep abdominal wall of inguinal region
109
superficial circumflex artery
superficial abdominal wall of inguinal region and anterior thigh
110
superficial epigastric artery
superficial abdominal wall of pubic and inferior umbilical region
111
superficial veins
superior into axillary
inferior into femoral
112
deep veins
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
median umbilical fold
median umbilical ligament and para umbilical vein (obliterated urachus)
114
medial umbilical fold
medial umbilical ligament and obliterated umbilical artery
115
lateral umbilical fold
lateral umbilical ligament and inferior epigastric vessels
116
stomach held in place by what
phrenoesophageal ligament
117
achlasia
failure of lower esophageal sphincter to relax and lower esophagus to contract when swallowing
118
sliding hiatal hernia
gastroesophageal junction and part of stomach protrude into chest, often only in chest when swallowing
119
paraesophageal hernia
gastroesophageal junction stays in place and part of stomach bulges into chest next to esophagus
120
duodenum parts
1. superior (L1) no folds
2. descending (L2) papilla
3. horizontal (L3)
4. ascending
121
retroperitoneal
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
lesser omentum ligaments
hepatogastric
hepatoduodenal
123
greater omentum ligaments
gastrophrenic
gastrosplenic
gastrocolic
124
infracolic space
between colon and base of mesentery
hepatorectal pouch
rectouterine pouch
125
celiac trunk
Salt (splenic artery)
Lake (Left gastric)
City (common hepatic)
126
splenic artery
pancreatic branches
short gastric (fundus)
left gastroepiploic (greater curve)
127
left gastric artery
esophageal branch
gastric branches (lesser curve)
128
common hepatic artery
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
portal system
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
superior mesenteric artery
inferior pancreaticoduodenal
jejuno and ilial arteries
ileocecal
right colic (ascending colon)
middle colon (transverse colon)
131
ligametn of treitz
where duodenum comes intraperitoneal, duodenojejunal junction
132
jejunum
less aarcades, longer vasa recta, and longer and more numerous plicae
133
ileum
more arcades, shorter vasa recta, shorter less numerous plicae
134
tenia coli
longitudinal muscles of large intestine
135
intussusception
part of intestine folds into section next to it
136
portal hypertension
esophageal varices
caput medusa
splenomegaly
hemorrhoids
137
cecal recesses
spaces formed by peritoneum around cecum
superior, inferior, retro
138
inferior mesenteric artery
left colic (descending colon)
sigmoid (sigmoid colon)
superior rectal (above pectinate line)i
139
ischemic colitis
areas of colon most sensitive to decreased blood flow and are more likely to suffer from ischemia
splenic flexure, sigmoid colons
140
rectal arteries
superior (inferior mesenteric)
middle (internal iliac)
inferior (internal pudendal)
141
spleen location
ribs 9,10,11
142
dorsal vs ventral mesentary
if it touches liver = ventral
if it doesnt = dorsal
143
liver impressions
gastric
esophageal
renal
suprarenal
colic
144
liver lobes
left, right, caudate, quadrate
145
pancreatic ducts
main joins common bile duct to enter major papilla
accessory enters minor
146
abdominal lymphatics
celiac node FG
superior mesenteric nodes MG
inferior mesenteric nodes HG
lumbar nodes kidneys, adrenals, testes, ovaries, uterus, common iliac nodes
147
structures in hepatoduodenal lig
posterior: portal vein
medial: proper hepatic artery
lateral: common bile duct
148
diaphram openings
Caval opening at T8
Esophageal hiatus at T10
aortic hiatus at T12
149
diaphram ligaments
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
posterior abdominal wall muscles
psoas major
psoas minor
iliacus
quadratus lumborum
151
psoas major
L1,2,3
transverse process or lumbar vertibrae (side of T12-L5) to lesser trochanter
152
psoas minor
L1
sides of T12-L1 to pectineal line
153
iliacus
L2,3,4
iliac fossa to lesser trochanter
154
quadratus lumborum
T12, L1,2,3,4
medial 12th rib to iliolumbar ligaments
155
lumbar plexus nerves
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
aorta arteries
unparied: celiac trunk, superior mesenteric, inferior mesenteric
paired lateral: suprarenal, renal, gonadal
paired posterolateral: subcostal, inferiorphrenic, lumbar
157
left side abdominal veins
gonadal and suprarenal flow into renal
158
lymphatics
flow anitparallel to arteries
go to cysterna cgyli to thoracic duct throught aortic hiatus
