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60 Cards in this Set

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Question
Answer
Describe fct of following genes:
(a) sonic hedgehog
(b) wnt-7
(c) FGF gene
(d) homeobox gene
(a) produced at base of limbs in zone of polarizing activity. Involved in patterning along anterior ventral axis
(b) produced at apical ectodermal ridge. Necessary for proper organization along dorsal-ventral axis
(c) produced at apical ectodermal ridge. Stimulates mitosis of underlying mesodern to lengthen limbs
(d) involved in segmental organization
Fetal landmarks:
Day 0
Within wk1
Within wk2
Within wk3
Within wk3-8
Within wk 4
Within wk 8
Within wk 10
-Day 0: fertilization forming zygote
-Within wk1: Implantation as blastocyst
-Within wk2: Bilaminar disk (epiblast/hypoblast)
-Within wk3: Gastrulation (3 germ layers form-ectoderm, mesoderm, endoderm). Primitive streak, notocord, neural plate form.
-Within wk3-8: Neural tube formed.
-Within wk 4: Heart begins to beat. Upper and lower limb buds form.
-Within wk 8: Fetal movement (looks like a baby)
-Within wk 10: Genitalia have male/female characteristics.
Ectopic pregnancy
(1) Most common form
(2) Most common abdominal site
(3) Risk factors
(4) Clinical signs
(1) ampulla of uterine tube
(2) rectouterine pouch (Pouch of Douglas)
(3) Endometriosis, PID, tubular pelvic surgery, exposure to diethylstilbestrol (DES)
(4) Abnormal or brisk uterine bleed, acute abdomen, missed period, +hCG, culdocentesis showing intraperitoneal blood, +sonogram
hCG
(1) fct
(2) how long does the corpus luteum need to persist to support pregnancy?
(3) low hCG may indicate:
(4) high hCG may indicate:
(1) Stimulates production of progesterone by corpus luteum
(2) 8 wks
(3) ectopic pregnancy; spontaneous abortion
(4) hydatidiform mole; multiple pregnancy; gestational trophoblastic neoplasia
Embryological derivatives of:
(1) Ectoderm
(2) Mesoderm
(3) Endoderm
(1) Ectoderm
-Surface ectoderm: adenohypophysis (anterior pituitary); lens of eye; epithelial lining of oral cavity, ear, eye, and nose; epidermis; salivary, sweat, and mammary glands
-Neuroectoderm: Neural tube (CNS neurons, olidgodendrocytes, astrocytes, ependymal cells, pineal gland, neurohypophysis); retina; spinal cord
-Neural crest: ANS; DRG; CN's; celiac ganglion; enterochromaffin cells (adrenomedulla); parafollicular cells of thyroid; Schwann cells; pia and arachnoid; bones of skull; odontoblasts; laryngeal cartilage; aorticopulmonary septum
(2) Mesoderm: Muscle; CT; serous membranes; bone; cartilage; blood; lymph; CV organs; adrenal cortex; urogenital structures; spleen; kidney and ureter; dura mater
(3) Endoderm:
-Epithelial parts: GI tract, tonsils, thymus, pharynx, larynx, trachea, bronchi, lungs, urinary bladder, urethra, tympanic cavity, auditory tube, and pharyngeal pouches
-Parenchyma: liver, pancreas, thyroid follicular cells, parathyroids, glands of GI tract, submandibular and sublingual glands.
Common mesodermal defects
VACTERL
-vertebral defects
-anal atresia
-CV defects
-tracheoesophageal fistula
-renal defects
-limb defects
Caudal dysplasia (sirenomelia)
Constellation of syndromes ranging from minor lesions of lower vertebrae to complete fusion of lower limbs. Result of abnormal gastrulation and associated w/VACTERL.
Teratogen effect on fetus:
(1) alcohol
(2) ACEI
(3) Cocaine
(4) Diethylstilbestrol
(5) Iodide (lack or excess)
(6) VitA (excess)
(7) Thalidomide
(8) Smoking (nicotine, CO)
(9) X rays, anticonvulsants
(10) Warfarin
(11) Tetracyclines
(12) Alkylating agents
(13) aminoglycosides
(14) Folate antagonists
(1) alcohol: Leading cause of birth defects and mental retardation; FAS
(2) ACEI: Renal damage
(3) Cocaine: Abnormal development and addiction; placental disruption
(4) Diethylstilbestrol: vaginal clear cell adenocarcinoma
(5) Iodide (lack or excess): congenital goiter or hypothyroidism
(6) VitA (excess): high risk for spontaneous abortion and birth defect (cleft palate, CV defect)
(7) Thalidomide: limb defects (flipper limbs)
(8) Smoking (nicotine, CO): preterm labor, placental problems, IUGR, ADHD
(9) X rays, anticonvulsants: multiple anomalies
(10) Warfarin: bone deformities, hemorrhage, abortion
(11) Tetracyclines: discolored teeth
(12) Alkylating agents: absence of digits, multiple anomalies
(13) aminoglycosides: CNVIII toxicity
(14) Folate antagonists: neural tube defects
Sacrococcygeal teratoma
Tumor from primitive streak which normally degenerates and disappears. Contains various types of tissue due to derivation from pluripotent cells. More common in females. Usually becomes malignant during infancy and must be removed by 6mos.
Chorion develops on day?
Amnion develops on day?
Chorion formed day 3
Amnion formed 8
Velamentous placenta
Umbilical vessels abnormally travel through amniochorionic membrane before reaching placenta proper. Can rupture and cause fetal hemorrhage and death.
Alpha Fetoprotein
(1) when does it appear?
(2) elevated AFP associated with?
(3) reduced AFP associated with?
Fetal albumin (AFP) appears at 14-18w
Neural tube defects, omphalocele (fetal serum leaking into amniotic fluid), esophageal and duodenal atresia
Down syndrome
Vitelline fistula
B/w umbilicus and terminal ileum; results in fecal discharge (meconium)
Urachal fistula
b/w umbilicus and bladder; results in urinary discharge
Fetal-postnatal derivatives
(1) umbilical vein
(2) Umbilical arteries
(3) ductus arteriosus
(4) ductus venosus
(5) foramen ovale
(6) allantois
(7) notochord
(1) umbilical vein: ligamentum teres hepatis (contained in falciform ligament)
(2) Umbilical arteries: medial umbilical ligaments
(3) ductus arteriosus: ligamentum arteriosum
(4) ductus venosus: ligamentum venosum
(5) foramen ovale: fossa ovalis
(6) allantois: median ligament
(7) notochord: nucleus pulposus of intervertebral disk
Location of fetal erythropoiesis at various stages in fetal development
Yolk sac (3-8wk)
Liver (6-30wk)
Spleen (9-28wk)
Bone marrow (28wk+)
Hgb synthesis at various stages in fetal development
Delta2episolon2 (by yolk sac)
Alpha2gamma2 (by liver)
Alpha2beta2 (bone marrow)
Adult structure derivatives of the following embryonic heart structures:
(1) Truncus arteriosus
(2) Bulbus cordis
(3) Primitive ventricle
(4) Primitive atrium
(5) Left horn of sinus venosus
(6) Right horn of sinus venosus
(7) Right common cardinal vein and right anterior cardinal vein
(1) Truncus arteriosus: aorta; pulmonary trunk
(2) Bulbus cordis: Smooth part of RV (conus arteriosus), and LV (aortic vestibule)
(3) Primitive ventricle: trabeculated part of LV and RV
(4) Primitive atrium: Trebeculated part of RA and LA
(5) Left horn of sinus venosus: coronary sinus
(6) Right horn of sinus venosus: smooth part of RA
(7) Right common cardinal vein and right anterior cardinal vein: SVC
Defects in the development of the aorticopulmonary septum: Cause and result.
(1) Persistent truncus arteriosus: Abnormal migration of neural crest cells (only partial develoment of AP septum). Results in R to L shunt and cyanosis.
(2) Complete transposition of great vessels: Abnormal migration of neural crest cells and non spiral development of Ap septum. Results in R to L shunt leading to cyanosis.
(3) Tetrology of Fallot: Abnormal neural crest migration causing skewed development of AP septum. Results in: pulmonary stenosis, overriding aorta, IV septal defect, and RV hypertrophy. RtoL shunt results in cyanosis.
Defects in development of atrioventricular septum: cause and result
(1) univentricular heart: extremely skewed development of AV septum to right. One ventricle receives both tricuspid and mitral valves.
(2) tricuspid atresia: insufficient amnt of AV cushion tissue available for tricuspid formation. Results in agenesis of tricuspid valve so no communication b/w right atrium and ventricle. Characterized by patent foramen ovale, IV septal defect, overdeveloped left ventricle and underdeveloped right ventricle
Defects in development of atrial septum: cause and result
(1) Foramen secundum defect: Excessive resorption of septum primum and/or secundum. Results in opening b/w RA and LA (patent foramen ovale). Most common clinically significant ASD. If small, sx may be delayed until 30YO.
(2) Premature closing of foramen ovale: Results in hypertrophy of right side of heart and underdevelopmet of left side.
Defects in development of ventricular septum: cause and result
(1) ventricular septal defect: due to incomplete fusion of right bulbar ridge and left bulbar ridge and AV cushions. Results in L to R shunt and cause excessive fatigue upon exertion. L to R shunt causes increased pulmonary blood flow and pulmonary hypertension. Ultimately, pulmonary resistance becomes higher than systemic resistance and causes R to L shunt and cyanosis (termed Eisenmenger complex)
Aortic arch derivatives:
1st arch
2nd arch
3rd arch
4 arch
5-6th arch
1st arch: maxillary artery
2nd arch: stapedial artery and hyoid artery
3rd arch: common carotids and proximal internal carotids
4th arch: right proximal subclav and aortic arch on left
5th-6th arch: proximal pulmonary arteries and ductus arteriosus (on left)
Neural tube defects:
(1) Spina bifida occulta
(2) Meningocele
(3) Spina bifida w/meningocele
(4) Spina bifida w/meningomyelocele
(5) Spina bifida rachischisis
(6) meningoencephalocele
(7) Meningohydroencephalocele
(1) Spina bifida occulta: Failure of boney spinal canal to close but no herniation. Usually lower vertebral levels and evidenced by tuft of hair.
(2) Meningocele: Meninges project through spinal canal.
(3) Spina bifida w/meningocele: Meninges project through vertebral defect and form CSF filled sac. Spinal cord is normal.
(4) Spina bifida w/meningomyelocele: Meninges and spinal cord project through vertebral defect to form sac.
(5) Spina bifida rachischisis: Posterior neuropore fails to close leading to an open neural tube that lies on surface of back. Cause paralysis from level of defect caudally.
(6) meningoencephalocele: Meninges and brain protrude through skull defect. 75% death or severe mental retardation.
(7) Meningohydroencephalocele: Meninges, brain, and portion of ventricle protrude through skull defect.
Forebrain anomalies: cause and effect
(1) Anencephaly
(2) Holoprosencephaly
(1) Anencephaly: due to failure of anterior neuropore to close leading to failure of brain to develop. Incompatible with life. Easily diagnosed with US; increased AFP
(2) Holoprosencephaly: decreased separation of hemispheres across midline resulting in cylopia and absence of olfactory bulbs and tracts; associated with Patau's syndrome (trisomy 13) and severe FAS
Posterior fossa malformations:
(1) Chiari Type II: clinical signs and associations
(2) Dandy-Walker: description and associations
(1) Cerebellar tonsillar herniation through foramen magnum (affects CNIX, X, and XII) w/aqueductal stenosis and hydrocephaly. Clinical signs: spastic dysphonia, difficulty swallowing, laryngeal stridor, diminished gag reflex, apnea, vocal cord paralysis. Assoc w/syringomyelia and thoracolumbar myelomeningocele.
(2) Large posterior fossa; absent cerebellar vermis with cystic enlargement of 4th ventricle. Associated with atresia of foramen Luschka and Magendie (non comm hydrocephalus)
Branchial Arch 1 Adult Derivatives:
(a) nerve innervation
(b) Mesoderm (not incl BV)
(c) Neural crest
(a) CN V2 and CN V3
(b) Muscles of mastication (temporalis, masseter, lateral and medial pterygoids); mylohyoid; anterior belly of digastric; tensor tympani; tensor veli palatini; anterior 2/3 of tongue
(c)Meckel's cartilage: maxilla, zygomatic bone, aquamous portion of temporal bone, palatine bone, vomer, mandible, incus, malleus, sphenomandibular ligament
Treacher Collins Syndrome
(a) cause
(b) result
(a) Failure of 1st arch neural crest cells to migrate
(b) mandibular hypoplasia and facial abnormalities
Branchial arch 2 adult derivatives:
(a) Nerve innervation
(b) Mesoderm (not incl BV)
(c) Neural crest
(a) CNVII
(b) Muscles of facial expression, stapedius, stylohyoid, posterior belly of digastric
(c) Reichert's cartilage: stapes, styloid process, lesser horn of hyoid, stylohyoid ligament
Branchial arch 3 adult derivatives:
(a) nerve innervation
(b) Mesoderm (not incl BV)
(c) Neural crest
(a) CNIX
(b) Stylopharyngeus
(c) greater horn of hyoid
Branchial arch 4
(a) nerve innervation
(b) Mesoderm (not incl BV)
(c) Neural crest
(a) CNX (superior laryngeal branch)
(b) Pharyngeal constrictors (except stylopharyngeus), cricothyroid, levator veli palatini
(c) none
Branchial arch 6 adult derivatives:
(a) nerve innervation
(b) Mesoderm (not BV's)
(c) Neural crest
(a) CNX recurrent laryngeal branch
(b) All intrinsiv muscles of larynx (except cricothyroid), upper muscle of esophagus, laryngeal cartilage
(c) none
Branchial pouch derivatives:
Pouch 1
Pouch 2
Pouch 3
Pouch 4
Pouch 1: Epithelial lining of eustachean tube, middle ear cavity, and mastoid air cells
Pouch 2: Epithelial lining of palatine tonsil
Pouch 3: Inferior parathyroid gland and thymus
Pouch 4: superior parathyroids
DiGeorge's Syndrome: cause, effect, association
Aberrant development of 3rd and 4th pouches. Leads to thymic aplasia and T cell deficiency; also hypocalcemia due to failure of parathyroid glands to develop. Assoc w/facial anomalies and CV anomalies (abnormal neural crest cell migration).
Branchial groove derivatives
1 becomes the external auditory meatus (the rest are obliterated)
Branchial membrane derivatives
1 becomes the tympanic membrane but the rest are obliterated
Tongue development
1st branchial arch forms anterior 2/3 (sensation from V3 and taste via CNVII)
3rd and 4th form posterior 1/3 (sensation and taste mainly via CNIX, extreme posterior CNX)
Motor innervation is CNXII
Cause of:
(1) Cleft lip
(2) Cleft palate (anterior and posterior)
(1) failure of the maxillary and medial nasal processes to fuse (formation of primary palate)
(2)
Anterior: palatine shelves fail to fuse with primary palate
Posterior: palatine shelves fail to fuse with each other and with nasal septum
NOTE: anteroposterior is combo of both.
Pharyngeal fistula: cause, effect, location.
Pouch 2 and groove 2 persist forming opening from internal tonsillar area to external neck and usually found along anterior border of the SCM muscle.
Pharyngeal cyst: cause, effect, location
Parts of pharyngeal groove persist usually found at angle of mandible
General location of ectopic thymus, parathyroid, and thyroid
Ectopic thymus/parathyroids: usually found laterally
Ectopic thyroid usually found in midline
Thyroglossal duct cyst and lingual thyroid/cyst location
Most commonly located at midlin near hyoid. Lingual thyroid is at the base of tongue.
Congenital hypothyroidism (cretinism)
Cause, clinical appearance
Due to lack of iodine, thyroid agenesis, or mutations in biosynth of thyroid hormone. Causes impaired growth and mental retardation. Flat brought nose, side set eyes, periorbital puffiness, and large protuberant tongue.
Diaphragm:
(a) Innervation
(b) 4 parts that diaphragm is derived from
(a) phrenic nerve (C3-5)
(b) Septum transversum (central tendon), pleuroperitoneal folds, body wall, dorsal mesentery esophagus (crura)
Effect of incomplete diaphragm development.
Abdominal contents may herniate into thorax leading to hypoplasia of thoracic organs (scaphoid abdomen, cyanosis)
Adults derivatives of foregut, midgut, and hindgut
-Foregut: Esophagus, stomach, liver, gallbladder, pancreas, upper duodenum
-Midgut: lower duodenum to proximal 2/3 of transverse colon
-Hindgut: Distal 1/3 of tranverse colon to rectum
Clinical presentation and treatment of congenital pyloric stenosis
Palpable mass in epigastric region and nonbilious projectile vomiting at 2wks. Treat w/surgical incision.
Tracheoesophageal fistula: cause and effect
Abnormal connetion b/w esophagus and trachea. Most commonly subtype is blind upper esophagus with lower esophagus connected to trachea. Results in cyanosis, choking/vomiting with feeding, air bubble on CXR, and polyhydramnios.
Adult derivative of ventral and dorsal pancreatic buds
Ventral bud: head of pancreas and uncinate process. Dorsal forms rest.
Annular pancreas cause and effect
Ventral and dorsal pancreatic buds form ring around duodenum causing obstruction.
Adult renal derivative of the following:
(1) Pronephros
(2) mesonephros
(3) metanephros
(4) urogenital sinus
(5) ureteric bud
(1) Pronephros: not functional and completely degenerates
(2) mesonephros: interim kidney for 1st tri; degenerates except for mesonephric (wolfian) ducts in males
(3) metanephros: permanent kidney (glomerulus to distal convoluted tubule)
(4) urogenital sinus: deveops into bladder, urethra, allantois
(5) ureteric bud: Outgrowth of mesonephric duct which gives rise to collecting duct, calyces, pelvis, ureter
Describe potter's syndrome
Bilateral renal agenesis leads to oligohydramnios with sequellae of limb/facial deformities, and pulmonary hypoplasia. Caused by malformation of ureteric bud.
Describe horseshoe kidney
Inferior poles of both kidneys fuse and are trapped under inferior mesenteric artery but kidney fct is normal.
Adult derivatives of mesonephric duct (wollfian)
Seminal vesicles, Epidiymis, Ejaculatory duct, Ductus deferens
Derivatives of Paramesonephric ducts (mullerian)
Fallopian tube, uterus, and upper 1/3 of vagina
Describe induction of male sex
SRY gene on y chromosome codes for testis-determining factor. MIH secreted by sertoli cells of testes which suppresses paramesonephric ducts. Increased androgens (Leydig cells) cause development of mesonephric ducts.
Male derivatives of the following embronic structures:
(1) Genital tubercle
(2) urogenital sinus
(3) urogenital folds
(4) labioscrotal swellings
(1) glans penis, corpus spongiosum
(2) bulbourethral glands, prostate
(3) ventral shaft of penis (penile urethra)
(4) labioscrotal swelling
Female derivatives of the following embronic structures:
(1) Genital tubercle
(2) urogenital sinus
(3) urogenital folds
(4) labioscrotal swellings
(1) glans clitoris, vestibular bulb
(2) greater vestibular glands (of bartholin), urethral and paraurethral Glands (of Skene)
(3) labia minora
(4) labia majora
Cause and associations of
(1) hypospadias
(2) epispadius
(1) Abnormal opening of penile urethra on inferior/ventral side of penis due to failure of urethral folds to close. Fix to prevent UTI
(2) Abnormal opening of penile urethra on superior/dorsal side of penis due to faulty positioning of genital tubercle. Associated with exstrophy of bladder.