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FCE Cards

QuestionAnswer
What word describes the phenomenon of a single gene having more than one effect on an individual's phenotype? Pleiotropy
A patient has inherited a mutation in a tumor suppressor gene. Mutation of the remaining (previously normal) copy of the tumor suppressor gene represents a loss of _____, which may lead to the development of cancer. Heterozygosity; the patient was previously a heterozygote for the lost tumor suppressor gene
A genetic disease that shows _____ _____ will have mutations at different loci that produce the same phenotype. Locus heterogeneity
What term describes the presence of both normal and mutated mitochondrial DNA (mtDNA), resulting in variable expression in mitochondrial inherited diseases? Heteroplasmy
Name the genetic phenomenon that occurs when the offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent. Uniparental disomy
In Leber's hereditary optic neuropathy, vision loss is _____ (central/peripheral). Central (like macular degeneration)
What is the pattern of inheritance of hypophosphatemic rickets? X-linked dominant
Autosomal-recessive patterns of inheritance are often found in diseases caused by defects in _____. Enzymes
Autosomal-dominant patterns of inheritance are often found in diseases caused by defects in _____ genes. Structural
Fatty acid oxidation occurs in the _____ (mitochondria/cytoplasm), whereas fatty acid synthesis occurs in the _____ (mitochondria/cytoplasm). Mitochondria; cytoplasm
Name the three pathways that occur in both the cytoplasm and the mitochondria. Heme synthesis, the Urea cycle, and Gluconeogenesis; remember the mnemonic: HUGs take two
Four pathways that occur in the mitochondria Fatty acid oxidation, acetyl-CoA production, Krebs cycle, and oxidative phosphorylation
What is the rate-determining enzyme of de novo pyrimidine synthesis? Carbomyl phosphate synthetase II
What is the rate-determining enzyme of de novo purine synthesis? Glutamine-PRPP amidotransferase
What is the rate-determining enzyme of glycolysis? PFK-1
What is the rate-determining enzyme of gluconeogenesis? Fructose-1,6-bisphosphatase (F-1,6-BP)
What is the rate-determining enzyme of the TCA cycle? Isocitrate dehydrogenase
What is the rate-determining enzyme of glycogen synthesis? Glycogen synthase
What is the rate-determining enzyme of glycogenolysis? Glycogen phosphorylase
What is the rate-determining enzyme of the HMP shunt? G6PD
What is the rate-determining enzyme of fatty acid synthesis? Acetyl-CoA carboxylase
What is the rate-determining enzyme of fatty acid oxidation? Carnitine acetyltransferase I
What is the rate-determining enzyme of ketogenesis? HMG-CoA synthase
What is the rate-determining enzyme of cholesterol synthesis? HMG-CoA reductase
What is the rate-determining enzyme of the urea cycle? Carbamoyl phosphate synthetase
How many ATP molecules are produced from the aerobic metabolism of glucose via the malate-aspartate shuttle? 32; occurs in the heart and liver
How many ATP molecules are produced from the aerobic metabolism of glucose via the glyceraldehyde-3-phosphate shuttle? 30; this occurs in the muscle
What compounds are used as single-carbon donors in various reactions? Tetrahydrofolates (THFs)
What vitamin is the donor of the carboxyl group used in many biochemical reactions in the body? Biotin
What molecule donates methyl groups? S-adenosylmethionine (SAM)
What enzyme deficiency is seen in Fabry's disease? α-Galactosidase A
A patient presents with progressive neurodegeneration, hepatosplenomegaly, and a cherry-red spot on his macula. Histologic examination reveals cells containing lipid droplets, confirming a lysosomal storage disease. What are these cells called? Foam cells; seen in Niemann-Pick disease
A patient presents with peripheral neuropathy, developmental delay, and optic atrophy. Histologic examination reveals multinucleated macrophages, confirming your diagnosis of a lysosomal storage disease. What are these cells called? Globoid cells; seen in Krabbe's disease
A deficiency of the enzyme α-galactosidase A leads to what disease? Fabry's disease
What substrate is accumulated in Fabry's disease? Ceramide trihexose
A patient shows mild symptoms similar to Hurler's syndrome, but no corneal clouding; what kind of behavior patterns do you expect? Aggressive behavior; seen in Hunter's syndrome
What type of inheritance does Fabry's disease demonstrate? X-linked recessive
A patient has peripheral neuropathy of the hands and feet, angiokeratomas of the skin, and both cardiovascular and renal disease. These characteristics are typical of which lysosomal storage disease? Fabry's disease
Name six types of sphingolipidosis. Fabry's disease, Gaucher's disease, Niemann-Pick disease, Tay-Sachs disease, Krabbe's disease, metachromatic leukodystrophy
What enzyme deficiency leads to Gaucher's disease? β-Glucocerebrosidase
What is the most common lysosomal storage disease? Gaucher's disease
What three lysosomal storage disorders are Ashkenazi Jews at increased risk for? Tay-Sachs, Niemann-Pick, and some forms of Gaucher's disease
A patient has hepatosplenomegaly, aseptic necrosis of the femur, bone crises, and abnormal macrophages on histologic examination. These characteristics are typical of which lysosomal storage disease? Gaucher's disease
What enzyme deficiency leads to Niemann-Pick disease? Sphingomyelinase
A child has progressive neurodegeneration, hepatosplenomegaly, and a cherry-red spot on his macula. These characteristics are typical of which lysosomal storage disease? Niemann-Pick disease
What substrate is accumulated in Tay-Sachs disease? GM2 ganglioside
A child has progressive neurodegeneration, developmental delay, cherry-red spots on the macula, and lysosomes with onion skin. These characteristics are typical of which lysosomal storage disease? Tay-Sachs disease
Name two lysosomal storage diseases that may present with a cherry-red spot on the macula. Niemann-Pick disease and Tay-Sachs disease
What enzyme deficiency leads to Krabbe's disease? Galactocerebrosidase
A patient has peripheral neuropathy, developmental delay, and optic atrophy. These characteristics are typical of which lysosomal storage disease? Krabbe's disease
What are the names of the cells that may serve as histologic confirmation of Niemann-Pick disease? Foam cells
What are the names of the cells that may serve as histologic confirmation of Krabbe's disease? Globoid cells
What enzyme deficiency leads to metachromatic leukodystrophy? Arylsulfatase A
What substrate is accumulated in metachromatic leukodystrophy? Cerebroside sulfate
A patient has central and peripheral demyelination with ataxia and dementia. These characteristics are typical of which lysosomal storage disease? Metachromatic leukodystrophy
What enzyme deficiency leads to Hurler's syndrome? α-L-iduronidase
A patient has developmental delay, gargoylism, airway obstruction, and corneal clouding. These characteristics are typical of which lysosomal storage disease? Hurler's disease
What substances accumulate in mucolipodosis? Heparan sulfate and dermatan sulfate
What enzyme deficiency leads to Hunter's syndrome? Iduronate sulfatase
What pattern of inheritance does Hunter's syndrome demonstrate? X-linked recessive
A patient has mild developmental delay, gargoylism, and airway obstruction but no corneal clouding. These characteristics are typical of which lysosomal storage disease? Hunter's syndrome
Name the two lysosomal storage diseases that show x-linked recessive inheritance. Fabry's disease and Hunter's syndrome
In which direction does the citrate shuttle move acetyl coenzyme A between the cytoplasm and the mitochondria? From the mitochondria to the cytoplasm
What is the intracellular location of the citrate shuttle? The inner mitochondrial membrane
In acyl-CoA dehydrogenase deficiency, dicarboxylic acid levels _____ (increase/decrease) and glucose and ketone levels _____ (increase/decrease). Increase; decrease
What two blood vessels and one nerve run along the spine at the level of the umbilicus? aorta, IVC, sympathetic trunk
True or False: The latissimus dorsi is more superficial than the quadratus lumborum. true
True or False: The transversalis fascia runs superficially to the transversus abdominis muscle. false
True or False: The rectus sheath wraps around the outside of the rectus abdominis. true
What is the most superficial muscle group making up the lateral abdominal wall? external oblique
What is the deepest muscle group making up the lateral abdominal wall? transversus abdominis
What lies between the bilateral rectus abdominis muscles, formed by the rectus sheath? linea alba
Name two major organs that lie completely in the retroperitoneal space. kidneys and adrenal glands
What part of the pancreas is not found in the retroperitoneal space? the tail
True or False: The rectum lies in the retroperitoneal space. true
Which two parts of the urinary system are retroperitoneal? kidneys and ureters
Which parts of the colon are found in the retroperitoneal space? ascending and descending colon
In the gastrointestinal tract, the falciform ligament connects which two structures? liver and anterior abdominal wall
In the gastrointestinal tract, the gastrohepatic ligament connects which two structures? liver and LESSER CURVATURE of the stomach
In the gastrointestinal tract, the gastrocolic ligament connects which two structures? TRANSVERSE colon and GREATER CURVATURE of the stomach
In the gastrointestinal tract, the splenorenal ligament connects which two structures? spleen to the POSTERIOR ABDOMINAL WALL (remember that the kidneys are retroperitoneal not within the abdominal cavity itself!)
The hepatoduodenal ligament contains what structures? portal artery, portal vein and common bile duct (the hepatic TriaD, hepaToDuodental)
The gastrohepatic ligament contains what structures? gastric arteries
The gastrocolic ligament contains what structures? gastroepiploic arteries
The splenorenal ligament contains what structures? splenic artery and vein
Name the ligament in the gastrointestional tract which is dervived from the fetal umbilical vein. falciform ligament
The portal triad can be compressed through what opening to control bleeding? omental foramen (also known as the epiploic foramen of Winslow)
What gastrointestinal ligament can be cut to access the lesser sac during surgery? gastrohepatic ligament (it separates the RIGHT greater and lesser sacs)
The gastrosplenic ligament separates what two structures? LEFT greater and lesser sacs
What structure attaches the digestive tract to the abdominal wall? the mesentery
Which layer of the muscularis externa is closer to the lumen: the circular layer or the longitudinal layer? the circular layer
What is another name for the serosa? the adventitia
List three components of the gut wall mucosa. epithelium, lamina propria, muscularis muscosa
What is the primary function of the lamina propria of the gut wall mucosa? support
What structure is found within the submucosa of the gut wall? Meissner's plexus
What lies between the inner circular and outer longitudinal layers of the muscularis externa? the myenteric nerve (Auerbach's) plexus
List the four main layers of the gut wall, starting from the inside and going out. mucosa, submucosa, muscularis externa, serosa
What is the rate of basal electrical rhythm in the duodenum? 12 waves/min
What is the rate of basal electrical rhythm in the stomach? 3 waves/min
What is the rate of basal electrical rhythm in the ileum? 8-9 waves/min
In what portion of the gut does the myenteric plexus coordinate motility? along the entire gut wall
The submucosal plexus is located between what two layers? mucosa and the innner (circular) layer of smooth muscle
True or False: The vagus nerve innervates structures at the L3 vertebral level. False; the L3 vertebral level is innervated by the pelvic parasympathetics (hindgut region)
What is the parasympathetic innervation for the liver, gallbladder and pancreas? vagus nerve (CN X)
Where is the division between the foregut and the midgut? Middle of the duodenum, the proximal duodenum is part of the foregut, the distal duodenum is part of the midgut
Where is the division between the midgut and the hindgut? 2/3rds of the way through the transverse colon it changes from midgut to hindgut
Name the 3 brances of the celiac trunk. Common hepatic artery, splenic artery, and left gastric artery
True or False: The cystic artery is a branch of the hepatic artery proper. False, the cystic artery is a branch of the right hepatic artery
What are the two branches of the gastroduodenal artery? Superior pancreaticoduodenal and right gastroepiploic arteries
True or False: The right and left gastroepiploic arteries anastamose along the lesser margin of the stomach. False, they anastamose along the greater margin
The short gastric arteries have poor anastomoses if the _____ artery is blocked. Splenic
Strong anastomoses exist between what two sets of arteries of the celiac trunk? L & R gastroepicloics and L & R gastrics
The internal thoracic/mammary (subclavian) can anastamose with the inferior epigastric (external iliac) via what arterial connection? superior epigastric (internal thoracic)
If the abdominal aorta is blocked, the superior pancreaticoduodenal (celiac trunk) artery can anastamose with what vessel? inferior pancreaticoduodenal (SMA)
If the abdominal aorta is blocked, which artery can anastamose with the left colic artery (IMA)? middle colic artery (SMA)
The superior rectal artery (IMA) can anastamose with what artery? middle rectal artery (internal iliac)
Esophageal varices result from anastomoses between the _______ vein and the _______ vein. left gastric vein; esophageal vein
Caput medusae results from anastomoses between the ____ vein and ____/_____ veins. paraumbilical vein; superior and inferior epigastric veins
Hemorrhoids result from anastomoses between the ______ vein and _____ and _____ veins. superior rectal vein; middle and inferior rectal veins
Portocaval shunt placement between the ______ _____ and ______ _____ veins relieves portal hypertension by shunting blood from the ______ circulation to the ______ circulation. splenic vein; left renal vein; portal; systemic
What fluid drains through the space of Disse? lymph (in the liver)
In the liver, bile flows from zone ___ (centrilobular zone) to zone _____ (periportal zone). zone III; zone I
In the liver, venous blood flows from the ___ zone to the ___ zone. periportal; centrilobular - remember it enters via the portal vein
In the liver, hepatocytes secrete bile into the bile _____, which drain into the bile _____ leading to the central hepatic duct. canaliculi; ductules
Are the zones of the liver numbered according to the flow of venous blood or of bile According to the flow of venous blood - zone I is where the blood enters (periportal region) and zone III is where the blood exits the liver (centrilobular region)
True or False: Zone I (periportal zone) of the liver is affected first by viral hepatitis. True - remember that viral hepatitis is a BLOOD-BORNE illness
Zone III (pericentral zone/centrilobular zone) is the first site affected by ______ (alcoholic/viral) hepatitis. centrilobular zone; ALCOHOLIC hepatitis (most sensitive to toxins)
Name two characteristics of the sinusoids of the liver that make them "irregular capillaries." fenestrated epithelium and lack of a basement membrane
En route from the liver sinusoids to the hepatocytes, plasma macromolecules must pass through what space? the perisinusoidal space (space of Disse)
A patient presents with right upper quadrant abdominal pain. Further work-up reveals a gallstone obstructing the common bile duct. Which two biliary ducts drain directly into the common bile duct? cystic duct and common hepatic duct
What is the name of the structure formed by the common bile duct and the pancreatic duct as they empty into the duodenum? the ampulla of Vater
What structure forms the lateral border of the femoral triangle? the sartorius muscle
What structure forms the medial border of the femoral triangle? the adductor longus muscle
What three main structures are contained within the femoral sheath? femoral artery, femoral vein, femoral canal
What does the femoral canal contain? the deep inguinal lymph nodes
What femoral triangle structure lies outside of the femoral sheath? the femoral NERVE
What acronym do you use to remember the structures in the femoral triangle? NAVEL - lateral to medial contents of the femoral triangle - Nerve, Artery, Vein, Empty space, Lymphatics - remember the Venous near the Penis
What acronym do you use for the contents of the carotid sheath? VAN - think of someone with VAN Morrison tattooed on their neck - Vein, Artery, Nerve
What structure is described in relation to inguinal hernias? inferior epigastric artery
What acronym do you use for the contents of the carotid sheath? VAN - think of someone with VAN Morrison tattooed on their neck - Vein, Artery, Nerve
What structure is described in relation to inguinal hernias? inferior epigastric artery
What is the site of protrusion of an indirect hernia in the inguinal canal? the INternal inguinal ring is the structure through which an INdirect inguinal hernia protrudes
Which runs more medially, the medial umbilical ligament or the median umbilical ligament? the mediaN umbilical ligament - think about how the median of a road is it's dead center
Name the layers that compose the spermatic cord, from the most superficial to the deepest layer. external spermatic fascia, cremasteric muscle, internal spermatic fascia
True or False: The rectus abdominis muscle is deep to the pyramidalis muscle and superficial to the medial/median umbilical ligaments. TRUE
From the most superficial layer to deep, what are the three muscles that cover the internal (deep) inguinal ring? external oblique, internal oblique, rectus abdominis
What cells produce the hormone gastrin? G cells
Where within the gastrointestinal tract are G cells located? the antrum of the stomach
What hormone causes the following three effects: increased hydrogen secretion, increased growth of the gastric mucosa, and increased gastric motility? gastrin
The presence of what substance within the stomach leads to increased gastrin release? amino acids (or peptides) - especially phenylalanine and tryptophan
What cells in the gastrointestinal tract make cholecystokinin? I cells
In cholelithiasis, the worsened pain experienced after the ingestion of fatty foods is the result of the increased release of what substance? CCK - increases contraction of the gallbladder
Secretin is produced by what cells? S cells
Where in the gastrointestinal tract are S cells located? duodenum
What two types of GI hormone secreting cells are found in the duodenum and jejunum but not in the ileum I cells (secrete cholecystokinin, CCK) and K cells (secrete glucose-dependent insulinotropic peptide, GIP)
Secretin has what effect on the pancreas? increased bicarbonate secretion
Which two substances stimuate secretin release within the duodenum? acid and fatty acids
True or False: There are clinically useful inhibitors for the gastrin receptors on the parietal cells. false
Acetylcholine and gastrin act through which second messenger system in parietal cells? Gq / IP3 / Ca signaling
What transporter is required for glucose and galactose uptake? SGLT1 and it's Na+ dependent
What transporter is required for fructose uptake? GLUT-5
What is the only monosaccharide with Na independent uptake? fructose
What transporter is required for monosaccharide transport into the blood? GLUT-2
Fracture of the surgical neck of the humerus damages what nerve? axillary nerve - may also hit the posterior circumflex humoral artery
Fracture of the midshaft of the humerus damages what nerve? radial nerve (lies in the radial groove) - may also hit the profunda brachial/brachii artery
Fracture of the supracondylar humerus damages what nerve? median nerve
Fracture of the medial epicondyle of the humerus damages what nerve? ulnar nerve
Match these up correctly: Apolipoproteins B-100 and B-48 / Liver and Intestine B-100 in the liver, B-48 in the intestine - remember apo B-48 in on chylomicrons while apo B-100 is on VLDL and chylomicrons transport dietary TGs while VLDL transports TG synthesized in the liver
Can the liver use ketones for fuel? NO! it's missing a key enzyme in the mito
What congenital defect produces a similar symptom to those seen in an infant with PKU who consumes phenylalanine? congenital pyloric stenosis - will have projectile vomiting
Into what two monomers is lactose degraded? glucose + galactose
Into what two monomers is sucrose degraded? glucose + fructose
A patient has an anterior hip dislocation and can no longer adduct the thigh. She has a sensory deficit along the medial thigh. What nerve has been damaged? obturator n.
A patient has a pelvic fracture. He can no longer flex his thigh or extend his leg. He has a sensory deficit along the anterior thigh and medial leg. What nerve has been damaged? femoral n.
A patient has a pelvic fracture and has damaged his femoral nerve. On physical exam one would expect that he can no longer _____ (flex/extend) his thigh, nor can he _____ (flex/extend) his leg. flex; extend
A patient has a pelvic fracture and has damaged his femoral nerve. On physical exam one would expect decreased sensation along the _____ (anterior/posterior/medial) thigh and along the _____ (anterior/posterior/medial) leg. anterior thigh; medial leg
A patient experiences trauma to his lateral leg and can no longer evert or dorsiflex his foot, nor can he extend his toes. What nerve has been injured, and what sign is evident on physical exam? common peroneal nerve; foot drop
A patient has damaged his common peroneal nerve. What sensory deficit would be expected on physical exam in the foot? decreased sensation in the DORSUM of the foot
A patient has damaged his tibial nerve. What sensory deficit would be expected on physical exam in the foot? decreased sensation in the SOLE of the foot
A patient has had trauma to his knee and can no longer invert or plantar flex his foot, nor can he flex his toes. He has decreased sensation in the sole of his foot. What nerve has been damaged? tibial n.
A patient has a posterior hip dislocation and cannot abduct his thigh (positive Trendelenburg sign). What nerve has been damaged? superior gluteal n.
A patient has a posterior hip dislocation. She can't jump, climb stairs, or rise from a seated position. What nerve has been damaged? inferior gluteal n.
What two nerves may be damaged if a patient sustains a posterior hip dislocation? superior gluteal and inferior gluteal nerves
Loss of foot eversion is due to damage of the _____ _____nerve, while loss of foot inversion is due to damage of the _____ nerve. common peroneal; tibial
Loss of dorsiflexion of the foot is due to damage of the _____ _____nerve, while loss of plantar flexion of the foot is due to damage of the _____ nerve. common peroneal; tibial
If a patient has foot drop, his ______ _____nerve is damaged; but if a patient cannot stand on his tiptoes, then the _____ nerve is damaged. common peroneal; tibial
What nerve innervates the posterior compartment of the lower extremity? tibial n.
During skeletal muscle signal conduction, postsynaptic ligand binding leads to the depolarization of what type of cell? muscle cell in the motor end plate
Where are Dihydropyridine receptors located? Where are Ryanodine receptors located? Dihydropyridine receptors in on the skeletal muscle membrane deep in the T-tubules; Ryanodine receptors are in the sarcoplasmic reticulum membrane
During skeletal muscle contraction, which band(s) of the sarcomere shorten in length? H, I & Z bands - think HIZ shrinkage
During skeletal muscle contraction, which bands of the sarcomere remain(s) the same length? A band - think A is Always the same length
In the sarcomere, does the A-band correspond to the length of actin or myosin? myosin
In the sarcomere, does the I band correspond to the area that is only actin or only myosin? only actin
In the sarcomere, does the H-band correspond to the area that is only actin or only myosin? only myosin
In the sarcomere, is the Z line the site of actin or myosin attachment? actin
In the sarcomere, is the M line the site of actin or myosin attachment? myosin
A sarcomere is defined as the area between one ______ _____to the next ______ _____. z line; z line
In skeletal muscle contraction, ATP binds to what molecule? myosin head - think "it's a SIN to give HEAD" .... and the head gets COCKED when it hydrolyzes ATP
The release of ADP allows for what process in actin/myosin cross-bridging? release of the myosin head from it's binding site on actin
After a smooth muscle membrane is depolarized, voltage-gated _____ _____ will open. calcium channels
In the process of smooth muscle cell contraction, calcium binds to what? calmodulin
With the binding of calcium to calmodulin in smooth muscle contraction, the activation of _____ _____-_____ kinase takes place. myosin light-chain kinase
What are the three first-line drug classes for the treatment of anxiety? SSRIs, benzos, buspirone
What are the three first-line drug classes (all mood stabilizers) for the treatment of bipolar disorder? Lithium, valproic acid, and carbamazepine; atypical antipsychotics can also be used
What are the three first-line drug classes for the treatment of depression? NSRIs, SSRIs, TCAs
What are the two first-line drugs used for the treatment of depression with insomnia? trazadone and mirtazapine
What two drug classes are used in the treatment of atypical depression? MAOIs and SSRIs
What drug classes are used in the treatment of panic disorder? SSRIs, TCAs and Benzos
What two drugs or drug types are used in the treatment of obsessive-compulsive disorder? SSRIs and clomipramine
What two drugs or drug types are used in the treatment of obsessive-compulsive disorder? Antipsychotics (Haloperidol)
Which has mainly neurological side effects, high or low potency antipsychotics? High potency antipsychotics (haloperidol)
Which is better at addressing the negative S/S of schizophrenia, typical or atypical antipsychotics? atypicals address both + and - symptoms; typicals address + symptoms only
Werner's syndrome Rapid aging beginning in 20s/30s; due to DNA helicase mutation
Hydatiform mole - clinical aspects preeclampsia in the 1st trimester, elevated HCG (>100,000 mlU/ml), uterus "larger than dates", bleeding
Sacrococcygeal teratoma remnants of the primitive streak (normally degenerates and disappears); contains various tissue types; more common in girls; becomes malignant in infancy, remove by 6 months of age
Chordoma tumor arising from remnants of the notochord; intracranial or sacral region; men over 50 yo; may be either benign or malignant
Caudal dysplasia (sirenomelia) due to abnormal gastrulation -> migration of the mesoderm is disturbed; constellation of syndromes from minor lesions of the lower vertebrate to fusion of the lower limbs (mermaid); associated with various cranial abnormalities (VATER, VACTERL)
VATER syndrome Vertebral defects - Anal Atresia - Tracheoesophageal fistula - Renal defects
VACTERL syndrome VATER syndrome + Cardiovascular defects - upper Limb defects
Oligohydramnios low volume of amniotic fluid (<400 ml in late pregnancy); inability of the fetus to excrete urine due to renal agenesis, results from Potter's syndrome, etc; hypoplastic lungs due to increased pressure on the fetal thorax
Polyhydramnios high volume of amniotic fluid (>2000 ml in late pregnancy); inability of the fetus to swallow due to anencephaly or esophageal atresia; associated with maternal diabetes
Amniotic band syndrome bands of amniotic membrane encircle and constrict parts of the fetus causing limb amputations and craniofacial abnormalities
Elevated AFP levels neural tube defects (spina bifida, anencephaly), omphalocele (allows fetal serum to leak into the amniotic fluid), esophageal and duodenal atresia (interfere with fetal swallowing)
Lesch-Nyhan syndrome deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT); X-linked recessive; can't salvage hypoxanthine or guanine, increased de novo purine synthesis, increased uric acid production (= inheritable gout)
DNA Pol III - direction of exonuclease 3' -> 5' for proofreading
DNA Pol I - direction of exonuclease 5' -> 3' for replacing the RNA primer
Xeroderma pigmentosum - defective process nucleotide excision repair - can't remove thymidine dimers
HNPCC - defective process mismatch repair
Enzyme inhibited by α-amanitin (in death cap mushrooms) RNA Pol II - synthesizes mRNA from DNA in eukaryotes
Polyadenylation signal AAUAAA
Signals involved in splicing EXON 1 GU --- A --- AG EXON 2
Disorder associated with a mutation in alternate splicing β-thalassemia
MOA of aminoglycosides inhibit formation of the initiation complex and cause misreading of mRNA
MOA of chloramphenicol inhibits 50S peptidyltransferase
MOA of macrolides bind 50S, blocking translocation
MOA of clindamycin binds 50S blocking peptide bond formation
I cell disease - clinical features coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes - usually fatal in childhood
5 drugs that act on microtubules mebendazole/thiabendazole, griseofulvin, vincristine/vinblastine (vinca alkaloids), paclitaxel, colchicine
Chediak-Higashi syndrome - clinical features recurrent pyogenic infections, partial albinism, peripheral neuropathy
Vimentin - tissue stained connective tissue
Desmin - tissue stained muscle
Cytokeratin - tissue stained epithelial cells
GFAP - tissue stained neuroglia
Structure that contains the ligamentum teres Falciform ligament
Structure that contains the gastric arteries Gastrohepatic ligament
Structure that contains the gastroepiploic arteries Gastrocolic ligament
Structure that contains the short gastric arteries Gastrosplenic ligament
Structure that contains the splenic artery and vein Splenorenal ligament
Structure that connnects the greater and lesser sacs Hepatoduodenal ligament
Structure that separates the greater and lesser sacs Gastrohepatic ligament
Created by: megankirch