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Step 1 2019 First Aid Flashcards > Reproductive - FA Embryo etc p598 -610 > Flashcards

Reproductive - FA Embryo etc p598 -610 Flashcards

1
Q

Mutations in Sonic hedgehog gene leads to what defect?

A

holoprosencephaly

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2
Q

Wnt-7 gene needed for? produced where?

A

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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3
Q

FGF gene stimulates what?

A

mitosis of underlying mesoderm, to lengthen limbs

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4
Q

If error in Hox gene, what defect?

A

appendages in wrong locations

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5
Q

Week 1 development

A

hCG secretion begins @ time of implantation

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6
Q

Week 2

A

Bilaminar germ disc - epi & hypoblast

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7
Q

Week 3

A

Trilaminar germ disc

Cells from epiblast invaginate –> primitive streak –> endoderm, mesoderm, ectoderm.

Notochord arises from midline mesoderm; overlying ectoderm becomes neural plate

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8
Q

Weeks 3–8 (embryonic period

A

Neural tube formed by neuroectoderm and closes by week 4.

Organogenesis. Very susceptible to teratogens

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9
Q

Week 4

A

Heart begins to beat. Upper and lower limb buds begin to form.

4 weeks = 4 limbs and 4 heart chambers.

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10
Q

Week 6

A

Fetal cardiac activity visible by transvaginal ultrasound.

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11
Q

Week 8

A

Fetal movements start.

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12
Q

Week 10

A

Genitalia have male/female characteristics.

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13
Q

Surface ectoderm

A
  • Epidermis;
  • adenohypophysis (from Rathke pouch);
  • lens of eye;
  • epithelial linings of oral cavity, sensory organs of ear, and olfactory epithelium;
  • anal canal below the pectinate line;
  • parotid, sweat, mammary glands.
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14
Q

benign Rathke pouch tumor with cholesterol crystals, calcifications

A

Craniopharyngioma

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15
Q

Neural tube derivs

A

Brain (neurohypophysis, CNS neurons, oligo- dendrocytes, astrocytes, ependymal cells, pineal gland), retina, spinal cord.

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16
Q

Neural Crest derivs

A
  • PNS (dorsal root ganglia, cranial nerves, autonomic ganglia, Schwann cells),
  • melanocytes,
  • chromaffinn cells of adrenal medulla,
  • parafollicular (C) cells of thyroid,
  • pia and arachnoid,
  • bones of the skull, odontoblasts,
  • aorticopulmonary septum, endocardial cushions,
  • myenteric (Auerbach) plexus.
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17
Q

Mesoderm

A
  • Muscle, bone, connective tissue,
  • serous linings of body cavities (eg, peritoneum),
  • spleen (derived from foregut mesentery),
  • cardiovascular structures,
  • lymphatics, blood,
  • wall of gut tube, upper vagina, kidneys, adrenal cortex,
  • dermis, testes, ovaries.
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18
Q

Mesodermal defects

A

VACTERL

  • Vertebral defects
  • Anal atresia
  • Cardiac defects
  • Tracheo-Esophageal fistula
  • Renal defects
  • Limb defects (bone and muscle)
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19
Q

Endoderm

A
  • *Gut tube epithelium (including anal canal above the pectinate line), *
  • Most of urethra and lower vagina (derived from urogenital sinus),
  • *Luminal epithelial derivatives (eg, lungs, liver, gallbladder, pancreas, eustachian tube, thymus, parathyroid, Parafollicular cells of thyroid
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20
Q

Teratogenicity of ACEI?

A

Renal damage, oligohydramnios, hypocalvaria

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21
Q

Teratogenicity of alkylating agents

A

Absence of digits, multiple anomalies

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22
Q

Aminoglycosides ?

A

Ototox

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23
Q

Antiepileptic Rx?

A

Neural tube defects, cardiac defects, cleft palate, skeletal abnormalities (eg, phalanx/nail hypoplasia, facial dysmorphism)

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24
Q

Diethylstilbestrol

A

Vaginal clear cell adenocarcinoma, congenital Müllerian anomalies

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25
Q

trimethoprim, methotrexate, antiepileptic drugs.

A

neural tube defects (folate antagonists)

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26
Q

Methimazole

A

Aplasia cutis congenita

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27
Q

Tetracyclines

A

Discolored teeth, inhibited bone growth

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28
Q

Limb defects (phocomelia, micromelia “flipper” limbs)

A

Thalidomide

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29
Q

Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities

A

Warfarin - use heparin instead, as it does not cross placenta

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30
Q

Cocaine

A

Low birth weight, preterm birth, IUGR, placental abruption

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31
Q

Why does smoking cause issues in development?

A

Nicotine = vasoconstriction. CO = impaired O2 delivery.

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32
Q

Maternal diabetes

A
  • Caudal regression syndrome (anal atresia to sirenomelia),
  • congenital heart defects,
  • neural tube defects,
  • macrosomia, neonatal hypoglycemia
  • polycythemia
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33
Q

Methylmercury found in? What teratogenicity?

A

Highest in swordfish, shark, tilefish, king mackerel. - Neurotox

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34
Q

Vitamin A excess (retinoids!)

A

Extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac)

35
Q

Leading preventable cause of intellectual disability in US?

A

Fetal Alcohol syndrome

36
Q

mechanism of fetal alcoholism issues?

A

One mechanism is due to impaired migration of neuronal and glial cells.

37
Q

Sx of fetal alcohol syndrome?

A
  • pre- and postnatal developmental retardation,
  • microcephaly,
  • facial abnormalities
    • smooth philtrum,
    • thin vermillion border [upper lip],
    • small palpebral ssures
  • limb dislocation,
  • heart defects. Heart-lung fistulas and holoprosencephaly in most severe form.
38
Q

Which layer of fetal placenta is responsible for producing hormones?

A

syncytiotrophoblast

39
Q

Why does syncytiotrophoblast have dec chance of being attacked by maternal immune system?

A

no MHC I expression

40
Q

umbilical a and v derived from?

41
Q

What is urachus, when formed and what from?

A

In the 3rd week the yolk sac forms the allantois, which extends into urogenital sinus. Allantois becomes the urachus, a duct between fetal bladder and umbilicus.

42
Q

Vitelline duct - when formed, what is it

A

7th week—obliteration of vitelline duct (omphalomesenteric duct), which connects yolk sac to midgut lumen.

43
Q

Meconium coming from umbilicus?

A

Vitelline fistula - Vitelline duct fails to close

44
Q

1st aortic arch derivs

A

Part of maxillary artery (branch of external carotid).

45
Q

2nd aortic arch derivs

A

Stapedial artery and hyoid artery.

46
Q

3rd aortic arch derivs

A

Common Carotid artery and proximal part of internal Carotid artery. [C is 3rd letter of alphabet]

47
Q

4th aortic arch derivs

A

On left, aortic arch; on right, proximal part of right subclavian artery.

48
Q

6th aortic arch derivs

A

Proximal part of pulmonary arteries and (on left only) ductus arteriosus.

49
Q

Where do pharyngeal clefts, arches, and pouches deriv from?

A
  • Clefts = ectoderm
  • Arches = mesoderm + neural crest
  • Pouches = endoderm
50
Q

Phayngeal clefts develop into?

A

1st cleft develops into external auditory meatus. 2nd through 4th clefts form temporary cervical sinuses, which are obliterated by proliferation of 2nd arch mesenchyme.

51
Q

Pharyngeal 1st arch derivs

A
  • Maxillary process - Maxilla, zygoMatic bone
  • Mandibular process –> Meckel cartilage = Mandible,
  • Malleus and incus,
  • sphenoMandibular ligament
  • Muscles of Mastication
    • (temporalis, Masseter, lateral and Medial pterygoids), Mylohyoid, anterior belly of digastric, tensor tympani, anterior 2⁄3 of tongue CN V2, V3
52
Q

Phayngeal 2nd arch derivs

A
  • Reichert cartilage: Stapes, Styloid process, lesser horn of hyoid, Stylohyoid ligament
  • Muscles of facial expression,
  • Stapedius, Stylohyoid, platySma, posterior belly of digastric CN VII
53
Q

Pharyngeal 3rd arch derivs

A

Greater horn of hyoid stylopharyngeus CN IX

54
Q

Pharyngeal arch 4-6th

A

Arytenoids, Cricoid, Corniculate, Cuneiform, Thyroid (used to sing and ACCCT) 4th arch: most pharyngeal constrictors; cricothyroid, levator veli palatini 6th arch: all intrinsic muscles of larynx except cricothyroid 4th arch: CN X (superior laryngeal branch) simply swallow 6th arch: CN X (recurrent laryngeal branch) speak

55
Q

micrognathia, glossoptosis, cleft palate, airway obstruction

A

Pierre Robin sequence - issue with Phayngeal arch 1

56
Q

neural crest dysfunction, mandibular hypoplasia, facial abnormalities, hearing loss, airway compromise

A

Treacher Collins syndrome

57
Q

from 1st Pharyngeal pouch?

A

Middle ear cavity, eustachian tube, mastoid air cells.

58
Q

from 2nd branchial pouch?

A

Epithelial lining of palatine tonsil.

59
Q

from 3rd branchial pouch?

A

Dorsal wings –> inferior parathyroids. Ventral wings –> thymus.

60
Q

from 4th branchial pouch?

A

Dorsal wings –> superior parathyroids. Ventral wings –> ultimobranchial body –> parafollicular (C) cells of thyroid.

61
Q

Stimulation of male genital formation?

A

SRY gene on Y chromosome—produces testis- determining factor testes development.

Sertoli cells secrete Müllerian inhibitory factor (MIF) that suppresses development of paramesonephric ducts.

Leydig cells secrete androgens that stimulate development of mesonephric ducts.

62
Q

Paramesonephric duct develops into

A

Develops into female internal structures— fallopian tubes, uterus, upper portion of vagina (lower portion from urogenital sinus).

63
Q

may presentas 1° amenorrhea (due to a lack of uterine development) in females with fully developed 2° sexual characteristics (functional ovaries).

A

Müllerian agenesis (Mayer-Rokitansky- Küster-Hauser syndrome

64
Q

Mesonephric duct develops into

A

Develops into male internal structures (except prostate)—Seminal vesicles, Epididymis, Ejaculatory duct, Ductus deferens (SEED).

65
Q

develop both male and female internal genitalia and male external genitalia

A

No Sertoli cells or lack of Müllerian inhibitory factor

66
Q

male internal genitalia, ambiguous external genitalia until puberty

A

5α-reductase deficiency—inability to convert testosterone into DHT

67
Q

Incomplete fusion of Müllerian ducts leads to?

A

Bicornate uterus - inc risk of spontaneous abortion

68
Q

If urachus fails to involute, what are the potential consequences?

A

infection, adenocarcinoma.

69
Q

child presents with urine discharge from umbilicus. what is the path?

A

Patent urachus

70
Q

Child presents with meconium discharge from umbilicus. what is the path?

A

Vitelline fistula

71
Q

Partial closure of vitelline duct has what sx?

A

Meckel diverticulum–> Melena, hematochezia and abdominal pain.

72
Q

Left recurrent laryngeal nerve loops around —- distal to ductus arteriosus. Right recurrent laryngeal nerve loops around —.

A

aortic arch

right subclavian artery

73
Q

Pt presents with cyst within lateral neck, anterior to sternocleidomastoid muscle, it is Immobile during swallowing. what is the path?

A

Persistent cervical sinus Ž–> branchial cleft cyst

74
Q

Muscle that elevates the hyoid bone is from which Branchial arch?

A

anterior belly of digastric –> 1st

75
Q

In female developement — duct degenerates and — duct develops.

A

Mesonephric paramesonephric

76
Q

Name the internal female structures that arise from paramesonephric duct?

A

fallopian tubes, uterus, upper portion of vagina (lower portion from urogenital sinus).

77
Q

Genetically xy Pt presents with both male and female internal genitalia and male external genitalia. What embryological process was interrupted?

A

Degeneration of paramesonephric (Müllerian) duct (female internal genitalia) was not inhibited due to lack of Sertoli cells or Müllerian inhibitory factor.Ž

78
Q

Worried mother brought her 15 year old daughter for physical since she hasn’t menstruated yet. Examination, shows a blind-ending vaginal pouch and virilization. what is the path?

A

5α-reductase deficiency inability to convert testosterone into DHT

79
Q

DHT converts —-,—- into Male external genitalia and prostate

A

Genital tubercle, urogenital sinus

80
Q

Pt without parathyroid and conotruncal anomalies is suffering from what path?

A

DiGeorge syndrome

81
Q

Which Branchial Arches form posterior 1⁄3 of tongue?

82
Q

all intrinsic muscles of larynx except cricothyroid are derivatives of which arch?

83
Q

Which arch becomes platySma, posterior belly of digastric?

84
Q

Which arch becomes Greater horn of hyoid?

Step 1 2019 First Aid Flashcards (63 decks)

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