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FA complete review part 1A Embryology and Anatomy

List of important genes of Reproductive embryogenesis: 1. Sonic hedgehog gene 2. Wnt-7 gene 3. Fibroblast growth factor (FGF) gene 4. Homeobox (Hox) genes
Where is the Sonic hedgehog gene produced? At base of limbs in zone of polarizing activity
What is the involvement or role of the Sonic hedgehog gene? Patterning along anteroposterior axis and CNS development
What condition is associated by a mutation to the Sonic hedgehog gene? Holoprosencephaly
What gene is probably mutated in patient with Holoprosencephaly? Sonic hedgehog gene
Gene of reproductive embryogenesis found limbs with polarizing activity Sonic hedgehog gene
Where is Wnt-7 gene produced? Apical ectodermal ridge
What gene is produced or found in the thickened ectoderm at distal end of each developing limb? Wnt-7 gene
What is the role or involvement of the Wnt-7 gene? Proper organization along dorsal-ventral axis
What gene dictates proper organization along the dorsal-ventral axis? Wnt-7 gene
Where is the Fibroblast growth factor (FGF) gene produced? Apical ectodermal ridge
Which important embryological genes are produced at the apical ectodermal ridge? Wnt-7 gene and FGF gene
Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs. Gene? Fibroblast Growth factor (FGF) gene
What is the function of the FGF gene? Stimulate mitosis of underlying mesoderm, causing the lengthening of limbs.
Common used abbreviation of Homeobox gene? Hox gene
What is the function or involvement of the Hox gene? Segmental organization of embryo in a craniocaudal direction.
Code for transcription factors? Homeobox genes
Hox mutations lead to: Appendages in wrong locations
Neonates is seen with three arms at abnormal locations. Which is the probable gene mutated? Homeobox genes
Hox mutation = Wrong limb placement
On what day does fertilization occurs? Day 0
How many chromosomes (N) and Chromatids (C) are in a zygote on Day 1? 2N (chromosomes) 4C (chromatids)
What is formed on Day 4 after Fertilization of the egg? Morula
A day after the morula is formed, the ____________________ appears. Blastocyst
Approximate day on which the Blastocyst is fully formed? Day 5
During which days after fertilization, does the implantation of the blastocyst into endometrium occurs? Day 6-10
What occurs on Day 6-10 after fertilization of egg? Implantation
Into which tissue does the implantation occurs initially? Endometrium
What is the inner lining of the uterus? Endometrium
When does hCG secretion begins? (approximately) Around the time of implantation of blastocyst
What occurs, in relation of hormone secretion, at time of implantation of the blastocyst? Secretion of hCG
Approximate time when the Bilaminar disc appears? Within week 2
What ar the 2 layers found/produced in the bilaminar disc? Epiblast and hypoblast
Around what week of embryogenesis is the trilaminar embryonic disc formed? Within week 3
How is the primitive streak formed? Cells from epiblast invaginate
What type of tissue (embryological) are found in the primitive streak? Endoderm, mesoderm, and ectoderm
What arises, around week 3 of embryogenesis, from the midline of the mesoderm? Notochord
What happens to the overlying ectoderm of the primitive streak? Becomes the neural plate
What forms the neural plate? The overlying ectoderm of the primitive streak
Which weeks of embryogenesis make up the Embryonic period? Weeks 3-8
What actions/events take place during the Embryonic period? 1. Neural tube formed by neuroectoderm and closes by week 4 2. Organogenesis
Which time/period is extremely susceptible to teratogens? Weeks 3-8
Neural tube is form by _____________________. Neuroectoderm
At what week is the neural tube closed? Week 4
Events of Week 4 of embryogenesis: 1. Heart begins to beat 2. Upper and lower limb buds begin to form
A newly beating heart in an embryo indicates how many weeks of pregnancy? At least 4 weeks
Fetal cardiac activity visible by transvaginal ultrasound by week ____. Week 6
Approximate week of gestation at which fetal movements start? Week 8
What occurs at week 10 of embryogenesis? Genitalia have male/female characteristics
What are the main divisions of Ectoderm? 1. Surface ectoderm 2. Neural tube 3. Neural crest
The ectoderm is the _______________ _______________ layer. External/ outer
Associated condition/tumor of the Surface ectoderm? Craniopharyngioma
List of Surface ectoderm derivatives: 1. Epidermis 2. Adenohypophysis (from Rathke's pouch) 3. Lens of eye 4. Epithelial linings of oral cavity, sensory organs of ear, and olfactory epithelium 5. Anal canal below the pectinate line 6. Parotid, sweat, mammary glands
Which part of the Pituitary gland is a surface ectoderm derivative? Adenohypophysis
What part of the eye is of Surface ectoderm origin? Lens of eye
What embryologic derivative makes up the lens of eye? Surface ectoderm
Anterior pituitary gland is made from the ___________ __________. Surface ectoderm
Surface ectoderm forms the epithelial lining of which structures: Oral cavity, sensory organs of ear, and olfactory epithelium
Anal canal below the pectinate line is from which embryological tissue derivate? Surface ectoderm
What are common glands originated from surface ectoderm? Parotid, sweat, and mammary glands
Bening Rathke pouch tumor with cholesterol crystals, calcifications. Dx? Craniopharyngioma
Why is a Craniopharyngioma associated as a Surface ectoderm malignancy? It is a tumor of the Rathke pouch, which forms the adenohypophysis.
Above or below the pectinate line of the anal canal, is it made from Surface ectoderm? Below
What are 3 main structures made from Neural tube? 1. Brain, 2. Retina, and 3. Spinal cord
The neural tube gives rise to the brain, which is composed of: Neurohypophysis, CNS neurons, Oligodendrocytes, Astrocytes, Ependymal cells, Pineal gland
Which gland is of Neural tube origin, and is part of the brain composition? Pineal gland
What is the embryologic derivative to the Neurohypophysis? Neural tube
Which Brain cells are of Neural tube origin? CNS neurons, oligodendrocytes, astrocytes, and Ependymal cells
Which part of the eye is made of Neural tube? Retina
Embryological derivatives of the Eye: Retina -----> Lens of Eye ----> ------> Neural tube -------> Surface ectoderm
What can be a overly simplified way to remember structures made form the Neural crest? PNS and non-neural structures nearby
List of Neural crest derivatives: 1. Melanocytes 2. Myenteric (Auerbach) plexus 3. Odontoblasts 4. Endocardial cushions 5. Laryngeal cartilage 6. Parafollicular (C) cells of the thyroid 7. PNS 8. Adrenal medulla and all ganglia 9. Spiral membrane (aorticopulmonary septum) 10. Schwann cells, 11. Pia and arachnoid 12. Bones of skull
Embryologic derivative of Melanocytes? Neural crest
What GI plexuses are of Neural crest origin? Myenteric (Auerbach) plexuses
Auerbach plexus is an embryologic derivative of _______________. Neural crest
Which skin related cells are a neural crest derivative? Melanocytes
Odontoblasts and Melanocytes are derivatives of: Neural crest
What is the embryological tissue of Endocardial cushions? Neural crest
Cardiac structures of Neural crest origin: 1. Endocardial cushions 2. Aorticopulmonary septum
Which organ's cartilage is of Neural crest origin? Laryngeal cartilage
Which thyroid cells are derivatives of Neural crest? Parafollicular (C) cells
The PNS is made from ____________ ___________. Neural crest
What is conveyed in the PNS that has Neural crest origin? Dorsal root ganglia, Cranial nerves, and autonomic ganglia
What is the origin embryological tissue of the Cranial nerve? Neural crest
Autonomic ganglia is a derivative of: Neural crest
Schwann cells are a drevivate fo ________ ___________. Neural crest
What is the embryological tissue of the bones of skull? Neural crest
Pia and arachnoid are derivatives of the ______________________. Neural crest
List of Mesodermal derivatives: 1. Muscle 2. Bone 3. Connective tissue 4. Serous lining 5. Spleen 6. Cardiovascular structures 7. Lymphatics 8. Blood 9. Wall of gut tube 10. Upper vagina 11. Kidneys 12. Adrenal medulla 13. Dermis 14. Testes and Ovaries
What is the only postnatal derivative of the Notochord? Nucleus pulposus
What are the associated defects of Mesoderm? Vertebral defects Anal atresia Cardiac defects Tracheo-Esophageal fistula Renal defects Limb defects
What common atresia is due to defective Mesoderm? Anal atresia
What are the serous lining made from Mesoderm? Peritoneum, Pericardium, and pleura
Muscle , bone, connective tissue and spleen are of __________________ origin. Mesoderm
What part of the vagina is of Mesoderm derivation/ Upper vagina
Blood and lymphatics are derivatives of? Mesoderm
What is the embryological origin of the kidneys, adrenal cortedx, dermis and testes/ovaries? Mesoderm
Dermis is of ___________________- derivation. Mesoderm
Wall of gut tube is a derivative of __________________. Mesoderm
Gut tube epithelium, included anal canal above the pectinate line, is of ____________________ origin. Endoderm
Most of the urethra and lower vagina are derived of ____________. Endoderm
What structures are derived from Urogenital sinus? Lower vagina and urethra
What are the luminal epithelial derivatives? Lungs, liver, gallbladder, pancreas, eustachian tube, thymus, parathyroid, and thyroid follicular cells
Thyroid follicular cells are ___________________ derivative. Endoderm
What is the embryological tissue of luminal epithelial derivatives? Endoderm
Thyroid follicular cells are of __________________ origin. Endoderm
What is the definition of Agenesis? Absent organ due to absent primordial tissue.
Absent organs due to absent primordial tissue. Agenesis
Definition of Aplasia: Absent organ despite presence of primordial tissue
Which error in morphogenesis depicts no organ, despite the presence of primordial tissue? Aplasia
What is hypoplasia? Incomplete organ development with primordial tissue present
Is primordial tissue present in hypoplasia? Yes
Secondary breakdown of previously normal tissue or structure Disruption
What is an example pathology of a error in Disruption? Amniotic band syndrome
When do Deformation errors occur (gestation)? After embryonic period
Which error in morphogenesis occurs during the Embryonic period? Malformation
Intrinsic disruption is known as ________________. Malformation
Extrinsic disruption is known as _________________. Deformation
What is the definition of Sequence, as an error in morphogenesis? Abnormalities result from single primary embryologic event
What is a common example of an error in sequence? Oligohydramnios causing to Potter sequence
When are teratogens most dangerous to fetal development? 3rd-8th weeks of pregnancy
Teratogenic susceptibility before week 3 produce --> "all-or-none" effects
Teratogen affection to fetus after week 8 causes? Growth and function deficits
Teratogenic effect of ACE inhibitors Renal damage
Which type of medications can cause renal damage as a teratogenic effect? ACE inhibitors
Teratogenic effect of alkylating agents? 1. Absence of digits, 2. Multiple anomalies
The absence of digits as a teratogenic effect is due to: Alkylating agents
Teratogen - Aminoglycosides cause: Ototoxicity
Which type of antibiotics are associated with Ototoxicity caused by a teratogen? Aminoglycosides
What are some important teratogenic defects caused by Antiepileptic drugs? 1. NT defects 2. Cardiac defects 3. Cleft palate 4. Skeletal abnormalities (phalanx/nail hypoplasia, facial dysmorphism)
What are associated skeletal abnormalities due to teratogenic effects of antiepileptic drugs? Phalanx/nail hypoplasia and Facial dysmorphism
List of most common teratogenic antiepileptics: Valproate, carbamazepine, phenytoin, and phenobarbital
What is recommended as prevention of teratogenic effects due to antiepileptics? High-dose folate supplementation
Teratogenic effects: Vaginal clear cell adenocarcinoma, and Congenital Mullerian anomalies. Associated medication? Diethylstilbestrol
What are the associated teratogenic effects of Diethylstilbestrol? 1. Vaginal clear cell adenocarcinoma 2. Congenital Mullerian anomalies
What are some common Folate antagonists? Trimethoprim (TMP), Methotrexate (MTX), and anti-epileptic drugs
Main teratogenic effect of folate antagonist? Neural tube defects
Teratogen - Isotretinoin causes? Multiple severe birth defects
Ebstein anomaly is due to a which teratogen? Lithium
What is Ebstein anomaly? Apical displacement of tricuspid valve
Lithium intake during pregnancy is associated with development of: Ebstein anomaly
Teratogen - Methimazole. Aplasia cutis congenita
Aplasia cutis congenita is due to which teratogen? Methimazole
What are the adverse teratogenic effects to Tetracyclines? 1. Discolored teeth 2. Inhibited bone growth
Discolored teeth on baby may be due to: Tetracycline use during pregnancy
What are the teratogenic effects produced by Thalidomide? Limb defects (phocomelia, micromelia- "flipper" limbs
Which teratogen is associated with limb defects such as "flipper" limbs? Thalidomide
Chronic anticoagulant considered a teratogen? Warfarin
What are the teratogenic defects produced by Warfarin? Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities
Which anticoagulant should be used on pregnant woman? Heparin
Which are the most common substance abused that cause teratogenic effects? Alcohol, Cocaine, and Smoking (nicotine, CO)
What are the teratogenic abnormalities or defects seen with Alcohol abuse? 1. Birth defects and intellectual disability 2. Fetal alcohol syndrome
What vessel action is produced by consumption of cocaine? Vasoconstriction
Presentation of teratogenic effects of Cocaine abuse? Low birth weight, preterm birth, IUGR, and placenta abruption
What type of substance abuse is suspected by a preterm birth and placenta abruption? Cocaine and Smoking
What is IUGR? Intrauterine Growth Restriction; A condition in which a baby doesn't grow to normal weight during pregnancy.
IUGR is associated with ________________ abuse. Cocaine
Teratogenic substance known to cause Vasoconstriction Cocaine and Nicotine
What is possible reason to which Smoking and cocaine abuse share some teratogenic effects? Both cause vasoconstriction
Associated teratogenic effects of smoking 1. Low birth weight 2. Preterm labor 3. Placental problems 4. IUGR, SIDS, and ADHD
CO due to smoking causes? Impaired O2 delivery --> teratogenic defects
Excess iodine during pregnancy is associated with: Congenital goiter or hypothyroidism (cretinism)
Which maternal condition is associated with Caudal Regression syndrome? Maternal diabetes
What is Caudal Regression syndrome? Anal atresia to sirenomelia
Which congenital heart defects are associated with Maternal diabetes? VSD, transposition of the Great vessels
List of teratogenic defects associated with Maternal diabetes: 1. Caudal Regression syndrome 2. Congenital heart defects (VSD, TOGV) 3. NT defects 4. Macrosomía 5. Neonatal hypoglycemia 6. Polycythemia
Associated teratogen defect of Methylmercury Neurotoxicity
Which are the highest/largest sources of methylmercury? Swordfish, shark, tilefish, and king mackerel
What are the teratogen defects produced by Vitamin A excess? 1. Extremely high risk for Spontaneous abortions and birth defects (cleft palate, cardiac).
What are the possible teratogenic abnormalities produced by X-rays? Microcephaly and Intellectual disability
What is a common measure to reduce teratogenicity of X-ray exposure? Lead shielding
What is the leading cause of intellectual disability in the U.S.? Fetal alcohol syndrome
Associated abnormalities of Fetal alcohol syndrome - Pre- and postnatal developmental retardation, microcephaly, facial abnormalities, limb dislocation, and heart defects
What are the facial abnormalities produced by Fetal alcohol syndrome? Smooth philtrum, thin vermillion border (upper lip), small palpebral fissures
Most severe form of heart defects in Fetal alcohol syndrome Heart-lung fistulas
What are the most severe complications of Fetal-alcohol syndrome? Heart-lung fistulas and Holoprosencephaly
What mechanism is failed in Fetal alcohol syndrome? Cell migration
What is Neonatal abstinence syndrome? Complex disorder involving CNS, ANS, and GI systems; secondary to maternal opiate use/abuse
What kind of substance is abused in order to develop Neonatal Abstinence syndrome? Opiate
Secondary to maternal opiate abuse/use. Dx? Neonatal abstinence syndrome
What is the common clinical presentation of newborn with Neonatal abstinence syndrome? - Uncoordinated sucking reflexes - Irritability - High-pitched crying - Tremors, tachypnea, sneezing, diarrhea, and, - Seizures
What is another term to refer to Dizygotic twins? Fraternal
Dizygotic twins arise form? 2 eggs that are separately fertilized by 2 different sperm.
What is the number of amniotic sacs and placenta(s) in dizygotic twins? 2 separate amniotic sacs 2 separate placentas
What is the medical term for placenta? Chorion
Another way to refer to monozygotic twins? Identical twins
Monozygotic twins arise from? 1 fertilized egg (1 egg + 1 sperm) that splits early in pregnancy
In monozygotic twins what determines the chorionicity and amnionicity? The timing of cleavage
Twining; Cleavage 0-4 days --> Separate chorion and amnion (2 & 2)
A shared chorion in twins is due to cleavage time? Cleavage 4-8 days
Cleaved of monozygotic twins in Days 4-8 lead to: Shared chorion
Shared amnion is seen if the cleavage is at__________________ days. 8-12
Twin cleavage 8-12 days lead to: Shared amnion
What is the result of twin cleavage 13+ days? Shared Body (conjoined)
When is cleavage of conjoined twins? 13+ days
2 eggs + 2 sperm = Dizygotic twins
1 egg + 1 sperm + early split in pregnancy = Monozygotic twins
Twins that look just the same are Monozygotic twins
Twin siblings that do not look exactly the same are known as: Dizygotic twins
Chorion = Placenta
What is chorionicity? Number of placentas
Created by: rakomi
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