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55 Cards in this Set
- Front
- Back
What are the regions of the GI, their ranges, and blood supplies?
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1) Foregut = pharynx -> duodenum (celiac a.)
2) Midgut = duodenum -> transverse colon / splenic flexure (SMA) 3) Hindgut = transverse colon / splenic flexure -> rectum (IMA) |
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What are the defects caused by failure of anterior abdominal wall closure?
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Rostral fold --> Sternal defects
Lateral fold: - gastroschisis - omphalocele Caudal fold --> bladder extrophy |
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What is gastroschisis?
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Extruding abdominal contents d/t failure of the lateral folds to close.
- NOT covered by peritoneum - liver never protrudes - lateral to the midline (R>L) |
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What is an omphalocele?
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Persistence of umbilical herniation of the abdominal contents.
- covered in peritoneum - also liver usually protrudes - 50% have other abnormalities (GI, GU, CV, CNS, MSK) Tx = Sx (sometimes w/ a silo) |
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What are the causes of different types of GI atresias?
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1) Down syndrome (21) = Duodenal
2) Vascular accident (apple pear atresia): - jejunal - ileal - colonic |
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What are the stages and timing of midgut development?
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6th Week = Herniation thru umbilical ring --> rapid growth
10th Week = Return & rotation around SMA |
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What are the pathological consequences of failures in midgut development?
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- malrotation
- omphalocele (failure to return) - volvulus (twisting around SMA) - intestinal atresia & stenosis |
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What is the most common type of tracheoesophageal sphincter and what are the signs?
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Type C:
- Blind upper esophagus - Lower esophagus connected to trachea Causes: - choking & vomiting w/ food - failure to pass NG tube - pneumonitis (aspiration) - cyanosis - air bubble in stomach on CXR |
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What is the most common condition requiring Sx int he first month of life? What are signs/symptoms?
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Congenital pyloric stenosis
(esp. first born males) - Palpable "olive" epigastric mass - NONbilious projectile vomiting (2 weeks old) Metabolic findings: - Hypochloremic - Hypokalemic - Metabolic ALKalosis (d/t vomiting) |
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What are origins of the parts of the pancreas?
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Liver diverticulum (from foregut) --> VENTRAL pancreatic bud (VPB)
VPB migrates around 2nd part of duodenum and fuses with DORSAL pancreatic bud (DPB) VPB --> Uncinate process DPB --> Body, Tail, Isthmus & accessory duct BOTH = Head & Main duct |
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What is the cause of an Annular pancreas?
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1) Abnormal encircling of 2nd part of duodenum by VENTRAL pancreatic bud
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What conditions are associated with annular pancreas in infants?
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1) Polyhydramnios
2) Down syndrome (21) 3) GI continuity problems - atresias (esophagus & duodenum) - meckel's diverticulum (ileum) - imperforate anus (rectum) |
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What is pancreas divisum and what causes it?
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Failure of the dorsal and ventral pancreatic buds to fuse by 8th week.
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What is the embryonic origin and blood supply of the spleen?
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- Mesoderm (dorsal mesentery)
- Celiac artery (foregut) |
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What is the function / purpose of the mesonephros?
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1) 1st trimester acts as interim kindey
2) Ureteric bud --> gives rise to the drainage system: - collecting ducts - calyces - pelvices - ureters 3) Males: ducts --> internal structures |
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What forms the permanent kidney?
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Metanephros
Begins @ 5 weeks --> through 32-36 weeks Metanephric mesenchyme interacts w/ ureteric bud to create functional unit of kindey: - glomerulus - renal tubules (PT -> DCT) |
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What condition results from malformation of the ureteric bud and what are its consequences?
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Potter's Syndrome = Bilateral renal agenesis
Results: - oligohydramnios - pulmonary hypoplasia - limb & facial deformities |
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What is the sequence of male genital embryology?
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1) SRY gene (Y chrom) --> Testis determining factor:
2) Sertoli cells --> Müllerian inhibiting factor --> suppresses paramesonephric ducts 3) Leydig cells --> Testosterone --> stimulate mesonephric ducts (internal genitals) 4) Testosterone --> DHT --> stimulates: - genital tubercle (glans & corpus cavernosum / spongiosum) - urogenital sinus (glands: prostate & bulbourethral) |
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What genital abnormalities would be seen with absent Sertoli cells?
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BOTH male and female INTERNAL genitalia
Male EXTERNAL genitalia (same effect as missing anti-Müllerian hormone) |
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What genital abnormalities would be seen in a 5α-reductase deficiency?
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For a genetic male (SRY active):
- Male INTERNAL genitalia - Ambiguous EXTERNAL |
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What are the derivatives of the Genital Tubercle in males and females?
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Males:
- glans penis - corpus (cavern & spong) Females: - glans clitoris - vesibular bulbs |
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What are the derivatives of the Urogenital sinus in males and females?
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UGS = Glands
Males: - Bulbourethral glands - Prostate gland Females: - Vestibular glands - Urethral / Paraurethral glands |
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What are the derivatives of the Urogenital folds in males and females?
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Folds = the Middles
Males = Ventral SHAFT of penis Females = Labia MINORA |
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What are the derivatives of the Labioscrotal swelling in males and females?
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Labio-Scrotal?
Females = Labia MAJORA Males = Scrotum |
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What are the derivatives of the mesonephric ducts?
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aka wolffian ducts
Male internal structures = SEED: - Seminal vesicles - Epididymis - Ejaculatory duct - Ductus deferens |
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What are the derivatives of the paramesonephric ducts?
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aka müllerian duct
Female internal structures: - fallopian tube - uterus - UPPER 1/3 vagina (the lower 2/3 = urogenital sinus) |
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How can Paramesonephric / Müllerian duct abnormalities present?
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1) Primary amenorrhea in females w/ secondary sexual characteristics.
Anatomical defects but functional ovaries. (NOTE: lower 2/3 vagina normal) 2) Bicornuate uterus d/t incomplete fusion (if severe can see "double-barreled vagina") |
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What is hypospadia and what causes it?
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Abnormal opening of penile urethra on INFERIOR side
d/t failure of: Urethral fold closure (folds = the middle / shaft) |
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What is epispadia, what causes it, and what is associated with it?
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Abnormal opening of penile urethra on SUPERIOR side of penis.
d/t faulty position of: Genital tubercle (tubercle = head / "meat" of penis) Associated w/ Extrophy of bladder |
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What are the remnants of the Gubernaculum?
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Gubernaculum GLUEs everything down
(band of fibrous tissue). Male = Anchors testes Female = Ligaments: - ovarian ligament - round ligament (of uterus) |
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What are the remnants of the Processus vaginalis?
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It's an eVAGination of the periotoneum:
Males = tunica vaginalis Females --> obliterated (females already have 1 vagina) |
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What is cryptorchism?
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Undescended testis
(usually unilateral; higher risk in premies) Effects: - Sertoli cells ~ impaired: - spermatogenesis - inhibin --> therefore increased FSH - Leydig cells ~ not affected: - normal Testosterone (therefore normal LH) 35x increased risk of germ cell tumors if not removed Tx = Orchiopexy if young, orchiectomy if older |
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What condition would you commonly workup for infertility in a man?
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Klinefelter's (XXY)
- Sertoli: ↓ inhibin --> ↑FSH - Leydig: ↓ test --> ↑LH --> ↑E2 Also, look for Barr body |
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What is the most common cause of 1º amenorrhea w/o 2º sexual characteristics?
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Turner Syndrome (XO)
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What is the likely diagnosis for:
↑ LH ↑ Testosterone? |
Defective androgen receptor (e.g. Androgen insensitivity syndrome)
W/o Andro-R on Anterior Pit, there is loss of negative feedback |
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What is the likely diagnosis for:
↓ LH ↑ Testosterone? |
Exogenous Testosterone:
- tumor - supplementation Negatively feeds back to Anterior Pit, which stops secreting LH |
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What is the likely diagnosis for:
↑ LH ↓ Testosterone? |
1º Hypogonadism
Lacking Leydig cells, so will not produce Testosterone even w/ increased LH secretion from Anterior Pit |
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What is the likely diagnosis for:
↓ LH ↓ Testosterone? |
HYPOgonadotropic HYPOgonadism
(missing the Anterior Pit or just LH, but can't stimulate Leydig cells to secrete T) |
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What are the components of the Triple Test and how/when is it used?
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1) AFP
2) (ß)hCG 3) E3 Performed @ 16-18 weeks; if abnormal, then U/S to determine if development is consistent w/ dates. |
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What is the most common cause for elevated AFP?
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Dating error (underestimating date of gestation)
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In pregnancy, what produces AFP and what are conditions associated w/ abnormal levels?
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AFP produced by:
- Yolk sac (early) - Fetal Liver - Fetal GI ↑ AFP a/w: - neural tube defects - anterior abdominal wall defects: - omphalocele - gastroschisis - multiples ↓ AFP a/w: - Down syndrome |
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In pregnancy, what produces hCG and what are conditions associated w/ abnormal levels?
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hCG produced by trophoblasts.
↑ hCG a/w: - multiples - moles - choriocarcinoma |
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In pregnancy, what produces Estriol and what are conditions associated w/ abnormal levels?
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E3 produced by both:
- fetus - placenta ↓ E3 a/w - placental insufficiency |
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What is an "apple peel atresia"?
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It is a small bowel or colonic atresia d/t a vascular accident leading to SMA obstruction. The mesentery of that bowel is absent and its associated bowel segment forms a spiral around the vessel.
This is not congenital, as it is not d/t abnormal fetal development. |
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What neoplasias are associated with MEN 1?
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3 P's (diamond):
- Pituitary - Parathyroids - Pancreas |
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What neoplasias are associated with MEN 2A?
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2 P's (square)
- Parathyroids - Pheochromocytoma (medulla) - Thyroid (medulla) RET proto-oncogene |
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What neoplasias are associated with MEN 2B?
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1 P (triangle)
- Pheochromocytoma (medulla) - Thyroid (medulla) - Oral/Intestinal mucosa (anglioneuromatosis) |
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What lab finding corresponds with a pheochromocytoma?
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Increased vanillymandelic acid (VMA) = catecholamine metabolite.
Measured in urine. |
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Unilateral aplasia of the fibula is an example of a failure of what embryologic process?
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Proliferation
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Autoimmune disease d/t persistence of autoreactive T/B Cells is an example of a failure of what embryologic process?
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Apoptosis
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Branchial cleft cysts is an example of a failure of what embryologic process?
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Obliteration
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Hirschsprung disease is an example of a failure of what embryologic process?
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Migration
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Hypospadias is an example of a failure of what embryologic process?
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Fusion
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An ostium primum atrial septal defect is an example of a failure of what embryologic process?
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Fusion
(of the endocardial cushions) |
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What are the phases of cellular replication that female germ cells are arrested in?
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1) 1º oocytes = Prophase 1
(all are in this stage after about 5 months gestation) ↑FSH stimulates to complete Meisosi 1.... 2) 2º oocytes = Metaphase 2 (↑E2 & ↑LH cause release from follicle and remain in Metaphase 2 until fertilization) |