Exam Block 2 Flashcards
Trisomy 21
Downs Syndrome
95% non disjunction 5% robertsonian translocation
Trisomy 18
Edward Syndrome
Prenatal growth deficit, prominent occiput, clindactyly, rocker bottom feet
50% survive a few weeks 5% survive to 1 year
Trisomy 13
Patau Syndrome
Oral facial cleft, postaxial polydactyly, malformations of CNS, cutaneous scalp lesions
5% survive 1 year
Monosomy X
Turners Syndrome
Mosaicism increase risk gonadoblastoma, short, webbed neck, heart defects, low estrogen leads to increased osteoporosis
47XXY
Klinefelter Syndrome
Tall, long limbs, low testosterone, mosaicism increases fertility
Trisomy X
Fairly benign, some infertility, more Xs seen more problems
90% maternal nondisunction
47 XYY
Tall, small IQ reduction, more in prison, increased behavior disorders
Cri du chat
Deletion 5p15.2
Cat like cry, growth delayed, microcephaly, very low IQ
Wolf Hirschhorn
Terminal deletion 4p
Growth retardation, facial dysmorphism, severe intellectual disability
WAGR
Microdeletion 11p
Wilms tumor, aniridia, genitourinary abnormalities intellectual disability
Williams Syndrome
Microdeletion 7q11.23
Vascular problems, outgoing, periorbital fullness, short nose, large mouth, IQ 40-80
Smith Magenis
Microdeletion 17p11.2 or mutation of RAI1 gene in the same region
Prone to self injury, reverse circadian rhythm, self hugging
Philadelphia chromosome
9:22 translocation in cml
Alter abl protooncogene
Oncogene activation
Burkitt lymphoma
8:14 translocation
Myc protooncogene near Ig heavy chain, activates myc
Malignant transformation
Neurofibromatosis
Autosomal dominant
Variable expression, cafe au lait spots
Pleiotropy
Multiple effects from 1 mutation
Allelic heterogeneity
Multiple mutant forms have different effects on same gene
Locus heterogeneity
Multiple genes effect 1 pathway
Protein electrophoresis
Variation due to migration rate caused by differences in overall protein change
Restriction enzymes and southern blotting
Couple bacterial restriction enzymes with electrophoresis and probe that binds DNA fragments for visualizations of changes in DNA migration patterns
Nernst Equation
Ex=-61log(concin/concout)
Beta 1 receptors
Heart (sympathetic NE)
N1 receptors
Skeletal muscle (excitatory)
N2 receptors
Receptors on postganglionic cell (excitatory)
polymerase chain reaction (PCR)
amplify microsatellites, capillary electrophoresis, flourescent labels
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
fluorochrome
labeled primers or dideoxynucleotides emit a distinct spectrum of light
microarrays
test many genes at 1 time, scan with a laser, read fluorescence
natural selection
survival or reproductive advantage
genetic drift
change with time
gene flow
mixing populations
founder effect
small population, mutations have large effects
hemophilia
X-linked recessive
defect in facto VIII gene on X
duchenne muscular dystrophy
severe and progressive; DMD gene entirely absent
becker MD form with altered dytrophin
color blindness
X-linked recessive
caused by unequal crossing over
hypophosphatemic rickets
X-linked dominant
kidneys cant reabsorb phosphate
incontinentia pigmenti
X-linked dominant
abnormal skin pigmentation and teeth
neurological/ocular abnormalities
rett syndrome
X-linked dominant
autism, ataxia, intellectual disability and development
Y chromosome inheritance
father son transmission
holandric
heteroplasmy
mitochondrial mutation only present in some
leber hereditary optic neuropathy (LHON)
mitochondrial mutation
optic nerve death in third decade, missense mutation
myoclonic epilepsy with ragged red fibers (MERRF)
mitochondrial mutation
single base changes in tRNA
heteroplasmic with variable expression
mitochondrial encephalomyopathy and stroke like episodes (MELAS)
mitochondrial mutation
single base mutation in tRNA
heteroplasmic with variable expression
genomic imprinting
chromosome regions methylated differently in sperm vs ova
different expression from maternal and paternal chromosomes
angelmans syndrome
maternal deletion and paternal imprinting
Prader willi
paternal deletion and maternal imprinting (eat everything)
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
autosomal dominant dissorders
retinoblastoma
postaxial polydactyly
achondroplasia
autosomal recessive disorders
albinism
cystic fibrosis (CFTR mutation deltaF508)
southern blots
test DNA
northern blots
test RNA
western blots
test protein
restriction fragment length polymorphisms (RFLPs)
change restriction site and site of fragment the probe recognizes (sickle cell disrupts MstII site)
DNA fingerprinting
southern blotting after restriction digestion of DNA (VNTRs)
allele specific oligonucleotide probes
must know mutation sequence
variable number tandem repeats (VNTRs)
individual genetics vary
genome wide association study (GWAS)
can screen many markers, such as single nucleotide plymorphisms (SNPs)
week 4 of development will the body be closed?
yes except umbilical region
foregut blood supply and innervation
celiac trunk, greater splanchnic nerve (T5-9), vagus nerve
midgut blood supply and innervation
superior mesenteric artery, lesser splanchnic nerve (T10-11) and least splanchnic nerve (T12), vagus nerve
hindgut blood supply and innervation
inferior mesenteric artery, lumber splanchnic nerves (L1-3), pelvic splanchnic verves (S2-4)
septum transversum
what embryologically seperates the thorax and abdomen, becomes central tendon in adult diaphram
embryological gut tube has 3 openings
stonoduem, umbilical vesical with umbilical artery and vein, anal pit
cloaca
tube with both urinary and GI openings attached
thorax and abdomen development
- pleural and peritoneal cavities are continuous by way of pleuroperitoneal canals
- pleuroperitoneal folds grow medially in inferior mediastinum closing the space
- additional rim of body wall mesenchyme completes the primitive diaphram
- somatic myoblasts form the muscular portion of the diaphram
- lungs form in pleural cavity to surround the pericardial cavity
congenital diaphragmatic hernia
intestine bulges up into diaphram and compresses lung
mesentery
2 layers of peritoneum that extends from visceral to parietal peritoneum
greater omentum
doubled over dorsal mesentery
4 layer omentum of greater curvature of stomach
lesser omentum
portion of ventral mesentary extending from the liver to the lesser curvature of the stomach (2 layers)
falciform ligament
ventral mesentery and contains ligamentum teres (obliterated umbilical vein)
stomach rotates how much in development
90 degrees
duodenal stenosis
restriction of tube, vacuoles invade and help open it again
atresia
no vacuales invade, completely closed off
esophagus, duodenum, ileum, extrahepatic biliary, anorectal
developing liver
umbilical vein obliterates
peritoneum btwn the liver and the diaphram rubs away creating a bare area
developing pancreas
originally has a dorsal and ventral bud that fuse
can have annular pancrease with the bile duct wrapped around the duodenum
developing gallbladder
bile duct entrance into duodenum gradually shifts posterior
dividing line of foregut and midgut
pancreatic duct in duodenum
development of midgut
primary intestinal loop elongates, herniates, rotates and retracts
can have malrotations
omphalocele
GI organs dont completely return to abdominal cavity
heal (meckels) diverticulum
remainder of yold talk, can become inflammed, may be connected to umbilicus by fibrous cord
development of hindgut
urorectal septum grows into cloaca
infolding of cloacal wall
continuation of postanal gut
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
mcburneys point
1/2 the way from ASIS to umbilicus, diagnostic tool for appendicitis
lateral abdominal muscles
external oblique
internal oblique
transversus abdominus
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
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
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
anterior abdominal muscles
rectus abdominus
pyramidalis
rectus abdominus
T6-12
pubic symphysis and pubic crest to xiphoid process and 5-7th costal cartilages
pyramidalis
anterior ramus of T12
front of pubis and pubic symphysis to linea albo
inguinal canal contents
genitofemoral nerve, spermatic cord in men, round ligament in women, ilioinguinal nerves pass through
anterior wall of inguinal canal
external oblique and internal oblique
posterior wall of inguinal canal
transversalis fascia and conjoint tendon
roof on inguinal canal
transversalis abdominus and internal oblique
floor of inguinal canal
inguinal ligament and lacunar ligament
rectus sheath
anterior and posterior for upper 3/4
below arcuate line just anterior
arcuate line
1/2 way between ubilicus and pubic symphysis
rectus abdominus tendons intersections
xiphoid
1/2 way between xiphoid and umbilicus
umbilicus
thoracoabdominal nerve
T7-11
muscles of anterolateral abdominal wall and overlying skin
7th-9th lateral cutaneous branches
skin on left and right hypochondriac region (7th-9th subcostal nerves)
subcostal nerve
spinal nerve T12
muscles of anterolateral abdominal wall, between iliac crest and umbilicus and overlying skin
iliohypogastric (L1)
skin over iliac creast, upper inguinal region, hypogastric region
internal oblique and transversalis abdominus
ilioinguinal (L1)
skin over inguinal region, mons pubis, medial thigh
inferior most external oblique and transversalis abdominus
musculophrenic artery
superficial and deep abdominal wall of the hypochondriac region and anterolateral diaphram
superior epigastric artery
rectus abdominus, superficial and deep abdominal wall of epigastric and upper umbilical region
10/11th posterior intercostal arteries
superficial and deep abdominal wall of lateral lumbar or flank region (subcostal arteries)
inferior epigastric artery
rectus abdominus, deep abdominal wall of pubic and inferior umbilical region
deep circumflex iliac artery
iliacus muscle, deep abdominal wall of inguinal region
superficial circumflex artery
superficial abdominal wall of inguinal region and anterior thigh
superficial epigastric artery
superficial abdominal wall of pubic and inferior umbilical region
superficial veins
superior into axillary
inferior into femoral
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
median umbilical fold
median umbilical ligament and para umbilical vein (obliterated urachus)
medial umbilical fold
medial umbilical ligament and obliterated umbilical artery
lateral umbilical fold
lateral umbilical ligament and inferior epigastric vessels
stomach held in place by what
phrenoesophageal ligament
achlasia
failure of lower esophageal sphincter to relax and lower esophagus to contract when swallowing
sliding hiatal hernia
gastroesophageal junction and part of stomach protrude into chest, often only in chest when swallowing
paraesophageal hernia
gastroesophageal junction stays in place and part of stomach bulges into chest next to esophagus
duodenum parts
- superior (L1) no folds
- descending (L2) papilla
- horizontal (L3)
- ascending
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
lesser omentum ligaments
hepatogastric
hepatoduodenal
greater omentum ligaments
gastrophrenic
gastrosplenic
gastrocolic
infracolic space
between colon and base of mesentery
hepatorectal pouch
rectouterine pouch
celiac trunk
Salt (splenic artery)
Lake (Left gastric)
City (common hepatic)
splenic artery
pancreatic branches
short gastric (fundus)
left gastroepiploic (greater curve)
left gastric artery
esophageal branch
gastric branches (lesser curve)
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)
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
superior mesenteric artery
inferior pancreaticoduodenal
jejuno and ilial arteries
ileocecal
right colic (ascending colon)
middle colon (transverse colon)
ligametn of treitz
where duodenum comes intraperitoneal, duodenojejunal junction
jejunum
less aarcades, longer vasa recta, and longer and more numerous plicae
ileum
more arcades, shorter vasa recta, shorter less numerous plicae
tenia coli
longitudinal muscles of large intestine
intussusception
part of intestine folds into section next to it
portal hypertension
esophageal varices
caput medusa
splenomegaly
hemorrhoids
cecal recesses
spaces formed by peritoneum around cecum
superior, inferior, retro
inferior mesenteric artery
left colic (descending colon)
sigmoid (sigmoid colon)
superior rectal (above pectinate line)i
ischemic colitis
areas of colon most sensitive to decreased blood flow and are more likely to suffer from ischemia
splenic flexure, sigmoid colons
rectal arteries
superior (inferior mesenteric)
middle (internal iliac)
inferior (internal pudendal)
spleen location
ribs 9,10,11
dorsal vs ventral mesentary
if it touches liver = ventral
if it doesnt = dorsal
liver impressions
gastric
esophageal
renal
suprarenal
colic
liver lobes
left, right, caudate, quadrate
pancreatic ducts
main joins common bile duct to enter major papilla
accessory enters minor
abdominal lymphatics
celiac node FG
superior mesenteric nodes MG
inferior mesenteric nodes HG
lumbar nodes kidneys, adrenals, testes, ovaries, uterus, common iliac nodes
structures in hepatoduodenal lig
posterior: portal vein
medial: proper hepatic artery
lateral: common bile duct
diaphram openings
Caval opening at T8
Esophageal hiatus at T10
aortic hiatus at T12
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
posterior abdominal wall muscles
psoas major
psoas minor
iliacus
quadratus lumborum
psoas major
L1,2,3
transverse process or lumbar vertibrae (side of T12-L5) to lesser trochanter
psoas minor
L1
sides of T12-L1 to pectineal line
iliacus
L2,3,4
iliac fossa to lesser trochanter
quadratus lumborum
T12, L1,2,3,4
medial 12th rib to iliolumbar ligaments
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)
aorta arteries
unparied: celiac trunk, superior mesenteric, inferior mesenteric
paired lateral: suprarenal, renal, gonadal
paired posterolateral: subcostal, inferiorphrenic, lumbar
left side abdominal veins
gonadal and suprarenal flow into renal
lymphatics
flow anitparallel to arteries
go to cysterna cgyli to thoracic duct throught aortic hiatus
