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135 Cards in this Set
- Front
- Back
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Function of the snoic hedgehog gene
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produced at base of limbs in zone of polarizing activity
Involved in patterning along anterior-post. axis involved in CNS development Mutation can cause holoprosencephaly |
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Wnt-7 gene
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produced at apical ectodermal ridge (thickened ectoderm at distal end of each developing limb)
Necessary for proper organization along dorsal-ventral axis |
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FGF gene
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produced at apical ectodermal ridge
stimulates mitosis of underlying mesoderm, providing for lengthening of the limbs |
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Homeobox genes
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involved in segmental organization of embryo in a craniocaudal direction
hox mutations-->appendages in wrong locations |
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When does the embryo implant into the uterus and what form is it in?
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around day 6 as a blastocyst
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When does hCG secretion begin?
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after implantation
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Week 2 of development is characterized by?
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bilaminar disc:
-epiblast=amniotic cavity -hypoblast=primary yolk sac |
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Week 3 of development is characterized by?
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Trilaminar disc
Gastrulation Pirmitive streak, notochord, mesoderm, and its organization, and neural plate begins to form |
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Weeks 3-8
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"Embryonic period"
neural tube formed by neuroectoderm and closes by week 4 Organogenesis *Very susceptible to teratogens |
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Week 4
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heart begins to beat
upper and lower limb buds begin to form |
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week 8
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fetal movements
fetus looks like a baby |
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week 10
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genitalia have male/female characteristics
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What is derived from surface ectoderm?
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adenohypophysis (from Rathke's pouch)
lens of eye epithelial linings of oral cavity sensory organs of ear and olf. epithelium epidermis anal canal below pectinate line parotid, sweat, and mammary glands |
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What is derived from the neuroectoderm?
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Brain (neurohypophysis, CNS neurons, oligodendrocytes, astrocytes, ependymal cells, pineal gland)
Retina and optic nerve Spinal cord |
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What is derived from neural crest?
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PNS (DRG, CN, celiac ganglion, schwann cells, ANS)
Melanocytes Chromaffin cells of adrenal medulla parafollicular (C) cells of thyroid Schwann cells Pia and arachnoid Bones of skull Odontoblasts Aorticopulmonary septum |
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What is derived from the mesoderm?
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muscle
bone CT serous linings of body cavities spleen CV structures lympahtics blood wall of gut tube wall of bladder urethra vagina kidneys adrenal cortex dermis testes ovaries Notochord- induces ectoderm to form neuroectoderm (neural plate) -nucleus pulposus of intervertebral disc |
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What is derived from endoderm?
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gut tube epithelium (including anal canal)
Luminal epithelial derivatives (lungs, liver, GB, pancreas, eustachian tube, thymus, parathyroid, thyroid follicular cells |
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Agenesis
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absent organ due to absent primordial tissue
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Aplasia
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absent organ despite present primordial tissue
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Deformation
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extrinsic disruptio
occurs after embryonic period |
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Hypoplasia
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incomplete organ development
primordial tissue present |
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Malformation
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intrinsic disruption
during embryonic period (wks. 3-8) |
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ACE I teratogenic effects
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renal damage
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alkylating agents teratogenic effects
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absence of digits
multiple anomalies |
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aminoglycosides teratogenic effects
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CN VIII toxicity
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Carbamazepine teratogenic effects
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neural tube defects
craniofacial defects fingernail hypoplasia developmental delay IUGR |
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DES teratogenic effects
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vaginal clear cell adenocarcinoma
congenital mullerian anomalies |
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Folate antagonists teratogenic effects
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neural tube defects
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Lithium teratogenic effects
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Ebstein's anomaly (atrialized RV)
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Phenytoin teratogenic effects
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fetal hydantoin syndrome: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, mental retardation
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Tetracycline teratogenic effects
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discolored teeth
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Thalidomide teratogenic effects
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limb defects ("flipper" limbs)
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Valproate teratogenic effects
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inhibition of maternal folate absorption-->neural tube defects
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Warfarin teratogenic effects
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bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities
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Alcohol teratogenic effects
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leading cause of birth defects and mental retardation
fetal alcohol syndrome |
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Cocaine teratogenic effects
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abn. fetal development and fetal addiction
placental abruption |
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Smoking (nicotine, CO) teratogenic effects
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preterm labor, placental problems, IUGR, ADHD
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Iodide (lack or excess) teratogenic effects
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congenital goiter or hypothyroidism (cretinism)
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Maternal diabetes teratogenic effects
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caudal regression syndrome (anal atresia to sirenomelia)
congenital heart defects neural tube defects |
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Vitamin A excess
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extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac abnormalities)
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X-rays
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microcephaly
mental retardation |
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When does cleavage have to occur to have monochorionic diamniotic twins (same placenta, 2 sacs)?
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4-8 days
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When does cleavage have to occur to have dichorionic diamniotic twins?
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0-4 days
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When does cleavage have to occur to have monochorionic monoamniotic twins?
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8-12 days
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When does cleavage have to occur to have conjoined wins (monochorionic monoamniotic)
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>13 days
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1st aortic arch derivative
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part of maxillary artery (branch of external carotid)
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2nd aortic arch derivative
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stapedial artery and hyoid artery
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3rd aortic arch derivative
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common carotid artery and proximal part of internal carotid artery
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4th aortic arch derivative
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on left, aortic arch
on right, proximal part of subclavian artery (systemic) |
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6th aortic arch derivative
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proximal part of pulmonary arteries and (on Left only) DA
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Branchial clefts
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derived from ectoderm
aka branchial grooves |
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Branchial arches
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derived from mesoderm (muscles, arteries) and neural crest (bone, cartilage)
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Branchial pouches
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derived from endoderm
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first branchial cleft
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external auditory meatus
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2-4 branchial clefts
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temporary cervical sinuses-->obliterated by proliferation of 2nd arch mesenchyme
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1st branchial arch
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cartilage: meckel's cartilage=mandible, malleus, incus, spheno-Mandibular ligament
Muscles: Mastication=temporalis, masseter, lateral and medial pterygoids, mylohyoid, anterior belly of digastric, tensor tympani, tensor veli palatini N: CN V2 and V3 (chew) |
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2nd branchial arch
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Reichert's cartilage: Stapes, styloid process, lesser horn of hyoid, stylohyoid ligament
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3rd branchial arch
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Cartilage: greater horn of hyoid
Muscles: stylopharyngeus Nerves: CN IX |
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4-6th branchial arches
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Cartilage: thyroid, cricoid, arytenoids, corniculate, cuneiform
Muscles: 4th-most pharyngeal constrictors; cricothyroid, levator veli palatini 6th-all intrinsic muscles of larynx except cricothyroid Nerves: 4th-CN X (superior laryngeal branch)- swallow 6th-CN X (recurrent laryngeal branch)-speak |
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1st branchial pouch
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middle ear cavity, eustachian tube, mastoid air cells
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2nd pouch
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epithelial lining of palatine tonsil
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3rd pouch
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dorsal wings-develops into inferior parathyroids
ventral wings-thymus |
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4th pouch
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dorsal wings-superior parathyroids
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Testicular atrophy
Tall, long extremities gynecomastia Incr. FSH, LH, estrogen Decr. testosterone |
Klinefelter's syndrome
XXY male phenotype |
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short stature
ovarian dysgenesis shield chest bicuspid aortic valve preductal coarctation of the aorta horseshoe kidney Decr. estrogen Incr. LH and FSH |
Turner syndrome
XO Female phenotype |
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What other endocrine abnormalities are assoc. with Turner Syndrome?
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Hypothyroidism
Diabetes |
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What tumors are people with Turner syndrome at an increased risk for?
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dysgerminoma
gonadoblastoma |
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severe acne
antisocial behavior normal fertility aggressive |
Double Y males (XYY)
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Ovaries present
external genitalia is virilized or ambiguous |
Female pseudohermaphrodite (XX)
exposed to excessive/inappropriate amounts of androgenic steroids during early gestation (CAH, exogenous steroids) |
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Testes present
External genitalia female or ambiguous |
Male pseudohermaphrodite (XY)
Androgen insensitivity syndrome (testicular feminization) |
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Mutation in steroidogenic acute regulatory protein
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needed to transport cholesterol from outer to inner Mt. membrane in adrenals and gonad
Large lipid accum. in adrenal cells |
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Normal appearing female
Female external genitalia with rudimentary vagina uterus and fallopian tubes absent Scant sexual hair Develops testes (in labia majora) Incr. testosterone, estrogen, LH Does not present until puberty |
Androgen insensitivity syndrome (46 XY)
Defect in androgen receptor resulting in normal-appearing female |
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Ambiguous genitalia until puberty-->masculinization and growth of external genitalia
Normal testosterone/estrogen LH normal or increased Internal genitalia normal |
AR
genetic males 5-alpha reductase deficiency |
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Lack of secondary sex characteristics
Decr. GnRH, FSH, LH, testosterone, sperm count |
Kallman syndrome
defective migration of GnRH cells and formation of olfactory bulb +anosmia |
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What type of ovarian cysts is associated with choriocarcinoma and moles?
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Theca-lutein cyst
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Ovarian germ cell tumors?
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Dysgerminoma
Choriocarcinoma Yolk sac (endodermal sinus) tumor Teratoma Gonadoblastoma Embryonal |
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sheets of uniform cells
clear cells separated by fibrous septae with lymphocytes Assoc. w/ Turner syndrome hCG and LDH increased |
Dysgerminoma (malignant)
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occurs during or after pregnancy in mother or baby
malignancy of trophoblastic tissue-but no chorionic villi Incr. frequency of theca-lutein cysts hCG increased |
Choriocarcinoma
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aggressive malignancy of young children
yellow, friable solid masses tubules lined by single cuboidal layer Schiller-Duval bodies (resemble glomeruli (papillary structure around blood vessel) Incr. AFP |
Yolk sac (endodermal sinus) tumor
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solid with necrosis and hemorrhage
solid sheets with large primitive cells (multinucleated) Incr, hCG and AFP |
Embryonal
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mixed germ cell and stromal tumor
sertoli/granulosa cell tumor Incr. risk with turner syndrome |
Gonadoblastoma
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fallopian type epithelium
benign frequently bilateral |
serous cystadenoma
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malignant
bilateral papillary projections psammoma bodies |
Serous cystadenocarcinoma
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Surface epithelial ovarian tumors
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serous
mucinous endometrioid brenner clear cell |
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multilocular cyst lined by mucus-secreting epithelium
benign columnar epithelium |
mucinous cystadenoma
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malignant
pseudomyxoma peritonei ovarian tumor |
mucinous cystadenocarcinoma
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spindle shaped fibroblasts
Meigs' syndrome pulling sensation in groin benign |
Fibroma
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How does a thecoma differ from a fibroma?
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there is fat in a thecoma
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meigs' syndrome
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ovarian fibroma
ascites hydrothorax |
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Estrogen secreting
endometrial hyperplasia or carcinoma in adults precocious puberty in kids Call-exner bodies abnormal uterine bleeding |
granulosa cell tumor
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Fibroadenoma
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small mobile, firm mass with sharp edges
rubbery <35 y.o. incr. size and tenderness with incr. estrogen NOT a precursor to breast cancer |
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Intraductal papilloma
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Small tumor that grows in lactiferous ducts
Beneath areola fibrovascular core in papillomas Pedunculated *most common cause of nipple discharge Serous or bloody nipple discharge Slight incr. risk of carcinoma |
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Phyllodes tumor
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large and bulky mass of CT and cysts
"leaf-like" projections some may become malignant |
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Risk factors for malignant breast tumors
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incr. estrogen exposure
incr. total number of menstrual cycles older age at 1st live birth obestity BRCA1 (100% risk of br. CA, incr. risk of ovarian CA) BRCA2 (M and F incr. risk) |
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Breast mets to bone are blastic? lytic?
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both blastic and lytic
Contrast to prostate mets which are only Blastic |
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Ductal carcinoma in situ
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fills ductal lumen
arises from ductal hyperplasia Not palpable |
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Comedocarcinoma
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variant of DCIS
ductal, caseous necrosis |
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Invasive ductal breast carcinoma
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firm, fibrous, "rock hard" mass w/ sharp margins
Small, glandular, duct-like cells "stellate" morphology Worst and most invasive most common (76%) |
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Invasive lobular
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orderly row of cells ("indian file")
surrounded by dense collagenous stroma Bilateral with multiple lesions in the same location |
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Medullary breast cancer
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fleshy, cellular, lymphocytic infiltrate
sheets of neoplastic cells good prognosis |
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Inflammatory breast cacner
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dermal lymphatic invasion
"Peau d'orange" Neoplastic cells block lymphatic drainage edematous 50% survival at 5 years |
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Paget's disease
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eczematous patches on nipple
Paget cells=large cells in epidermis w/ clear halo suggest underlying DCIS poor prognosis |
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Fibrocystic disease
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most common cause of breast lumps
25-menopause Premenstrual breast pain and multiple lesions bilateral |
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Fibrocystic disease indicates an increased risk of carcinoma-T/F
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False
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Fibrocystic disease types
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Fibrosis-hyperplasia of breast stroma
Cystic-fluid filled, blue dome. ductal dilation, may predispose to CA Sclerosing adenosis-Incr. acini and intralobular fibrosis, assoc. w/ calcifications, confused w/ cancer Epithelial hyperplasia-incr. # of epith. cell layers in terminal duct lobule, Incr. risk of ductal carcinoma w/ atypical cells (F>30 y.o.) |
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Acute mastitis
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breast abscess
during breast feeding usually due to S. aureus |
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Fat necrosis
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benign
painless lump result of injury to breast tissue dimpling of overlying skin foamy macrophages hemorrhagic-->fibrotic |
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What drugs cause gynecomastia?
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"Some Drugs Create Awkward Knockers"
Spironolactone Dignitalis Cimetidine Alcohol Ketoconazole |
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BPH
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occurs in lateral and middle lobes
Men >50 y.o. compresses urethra |
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Duct ectasia
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comedomastitis
post-menopause subareolar lesion large dilated ducts w/ fatty material surrounded by fibrosis and chr. inflammation Distortion of nipple, retraction of skin |
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Which testicle is a varicocele most likely to occur in?
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Left side because incr. resistance to flow from L gonadal vein drainage into left renal vein
infertility b/c incr. temperature |
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malignant testicular tumor
painless most common testicular tumor males 15-35 yr.s Large cells w/ watery cytoplasm and a "fried egg" appearance Incr. PLAP Radiosensitive |
Seminoma
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yellow mucinous testicular tumor
schiler-duval bodies resemble primitive glomeruli (incr. AFP) hobnailed cells Most common testicular tumor in infants |
Yolk sac (endodermal sinus) tumor
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Malignant testicular tumor
Incr. hCG Disordered syncytiotrophoblastic and cytotrophoblastic elements Hematogenous mets to Lungs Gynecomatia (hCG is an LH analog) |
Choriocarcinoma
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What markers are increased in a teratoma in a male?
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hCG and/or AFP
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Malignant, painful testicular tumor
worse prognosis than seminoma glandular/papillary morphology Most commonly mixed may be assoc. w/ incr. hCG and normal AFP levels when pure necrosis and hemorrhage 20-30 y.o. |
Embryonal carcinoma
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Reinke crystals
androgen producing gynecomastia in men precocious puberty in boys golden brown color Looks like dysgerminoma w/o lymphocytes |
Leydig cell tumor
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Testicular lymphoma
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occurs in older men
arises from lymphoma mets to testes aggressive |
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how does a hydrocele occur?
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incomplete fusion of processus vaginalis
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Spermatocele
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dilated epididymal duct
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Peyronie's disease
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bent penis due to acquired fibrous tissue formation
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priapism
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painful sustained erection not assoc. w/ sexual stim. or desire
assoc. w/ trauma, sickle cell disease, medications |
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Bowen disease
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carcinoma in situ of the penis
>35 y.o. 10-20% progress to invasive carcinoma solitary, whitish plaque thick, ulcerated plaque on shaft/scrotum |
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Bowenoid papulosis
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multiple reddish-brown papules
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Erythroplasia of Queyrat
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single/multiple shiny red plaques
velvety |
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hypospadias
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abnormal opening of the penile urethra on inferior (ventral) side of the penis due to failure of urethral folds to close
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Epispadias
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abnormal opening of the ppenile urethra on superior (dorsal) side of penis due to faulty positioning of genital tubercle
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Genital tubercle in males
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Glans penis
Corpus cavernosum and psongiousum |
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Genital tubercle in females
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glans clitoris
vestibular bulbs |
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Urogenital sinus in males
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Bulbourethral glands (of Cowper)
prostate gland |
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Urogenital sinus in females
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Greater vestibular glands (of bartholin)
Urethral and paraurethral glands (of Skene) |
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Urogenital folds in males
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ventral shaft of penis (penile urethra)
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Urogenital folds in females
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labia minora
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labioscrotal swelling in males
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scrotum
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labioscrotal swelling in females
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labia majora
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