Embryology - reproductive system Flashcards
Shh:
- produced at?
- function?
- mutation causes?
- produced at: base of limbs in zones of polarity
- function:
1) patterning along A-P axis
2) . CNS development - mutation causes holoprosencephaly 前脑无裂畸形
Wnt-7:
- produced at?
- function?
- produced at apical ectodermal ridge
2. function: dorsal-ventral axis
FGF gene:
- produced at?
- function?
- produced at apical ectodermal ridge
2. function: stimulate mitosis of underlying mesoderm to length the limbs
Homeobox (Hox):
- function?
- mutation causes?
- function: segmental organization of embryo in craniocaudal directions
- mutation causes: appendages in wrong location
early fetal development:
day 0:
form zygote
early fetal development:
wk 1:
implantation of blastocyte, hCG secretion begins
early fetal development:
wk 2:
2 = 2 layers
form bilaminar disc (epiblast 上胚层)
early fetal development:
wk 3: 出现的重要结构?
3 = 3 layers
form trilaminar disc - gastrulation 原肠胚形成
出现的重要结构:
- primitive streak 原条
- notochord: 脊索
- mesoderm
- neural plate begins
which embroygenesis period is extremely susceptible to teratogens?
wks 3- 8
which embroygenesis period will neural tubes (胚层起源) be closed?
wk 4
胚层起源: ectoderm
early fetal development:
wk 4 events?
- heart starts to beat
- neural tube closes
- upper and lower limb buds start to form
(wk 4 = 4 limbs)
early fetal development:
wk 6 events?
heart beat can be detected by transvaginal ultrasound
early fetal development:
wk 10 events?
genitalia have male/female characteristics
gastrulation: define
form the 3 layers
neural crest: give rise to?
3P + ABCM
- PNS (DRG, cranial N, celiac ganglion, Schwann cells, ANS)
- Pia + arachnoid
- Parafollicular (C) cells of thyroid 【secrete calcitonin】
- Aorticopulmonary septum 【separates the aorta and pulmonary arteries and fuses with the inter ventricular septum】
- Branchial arches (Bones of the skull - 其余的骨是mesoderm形成, cartilage, odontoblasts 成齿质细胞)
- Chromaffin cells of the adrenal medulla
- Malanocytes
Dx: brain mass filled with cholesterol + calcification
胚胎起源?和哪些结构起源相同?
Craniopharyngioma
胚胎起源: Rathke pouch (surface ectoderm)
和哪些结构起源相同:
- adenohypophysis 腺垂体
- glands: parotid, sweat and mammary glands
- lens of eye,
- epithelial lining of oral cavity
- sensory organs of ear and olfactory epithelium
- epidermis
- anal canal below the pectinate line
mesoderm: 包括哪些结构?defects 口诀?
- spleen (liver, kidney等等都是内胚层)
- adrenal cortex (肾上腺髓质是neural crest外胚层起源)
- serous lining of body cavities
Notochord 脊索: function? postnatal derivative?
postnatal derivative: nucleus pulpous of the inter vertebrate disc
endoderm: 包括哪些结构?
- anal canal above the pectinate line (齿状线以下是neural crest -ectoderm origin)
- thyroid follicular cells (note: Parafollicular (C) cells of thyroid 【secrete calcitonin】- neural crest -ectoderm origin)
- 大部分内脏
Define: what type of error in organ morphogenesis is this:
absent organ due to absent primordial tissue
agenesis 缺如
Define: what type of error in organ morphogenesis is this:
absent organ despite presence of primordial tissue
aplasia 发育不全
Define: what type of error in organ morphogenesis is this:
incomplete organ , despite presence of primordial tissue
hypoplasia
Define: what type of error in organ morphogenesis is this:
2° breakdown of a previously normal tissue or structure; example?
disruption
amniotic band syndrome 羊膜索综合征:
Amniotic band syndrome (ABS):
-rare congenital disorder that results when the amnion is damaged. This produces bands, or fibers, to wrap around or trap parts of the fetus, decreasing blood flow to those areas.
- Hands and fingers are the most common body parts to be affected by ABS, but it also may damage the face, legs or toes.
- Effects can range from slight creases in the skin to severe limb deformity or amputation. ABS is one of the main causes of club foot. Since the bands are slender, ABS often is difficult to diagnose by prenatal ultrasound. Most cases are found at birth.
amniotic band syndrome
Amniotic band syndrome (ABS):
- rare congenital disorder that results when the amnion is damaged. This produces bands, or fibers, to wrap around or trap parts of the fetus, decreasing blood flow to those areas.
- Hands and fingers are the most common body parts to be affected by ABS, but it also may damage the face, legs or toes.
- Effects can range from slight creases in the skin to severe limb deformity or amputation. ABS is one of the main causes of club foot. Since the bands are slender, ABS often is difficult to diagnose by prenatal ultrasound. Most cases are found at birth.
Define: what type of error in organ morphogenesis is this:
Extrinsic disruption, occurs after the embryonic period
vs
intrinsic disruption, occurs during the embryonic period (wks 3 -8 )?
Extrinsic disruption, occurs after the embryonic period: deformation
intrinsic disruption, occurs during the embryonic period (wks 3 -8 ): malformation
Define: what type of error in organ morphogenesis is this:
Abnormalities result from a single 1 ° embryological event ; 举例?
sequence
举例: Potter sequence vs. Potter syn
teratogens affect which period?
exposure before that? after that?
3 - 8 wks (“embryonic period - organogenesis)
before that: all or none
after that: growth and function affected
teratogens: cause ?
ACE I
renal damage
teratogens: cause ?
alkylating agents
alkylating agents
- cyclophosphamide, ifosfamide;
- nitrosoureases [such as carmustine, lomustine, semustine, streptozocin],
- busulfan
act as tetatogens: absent digits, multiple anomalies
act on blood as carcinogen: leukemia
teratogens: cause ?
carbamazepine (other toxicity?)
DOC for complex partial seizures, generalized tonic-clonic seizures,
most severe side effects:
- agranulocytosis, aplastic anemia
as teratogen: neural tube defects
teratogens: cause ?
aminoglycosides?
CN VIII toxicity
teratogens: cause ?
diethylstibestrol (DES)
己烯雌酚 synthetic nonsteroidal estrogen
From about 1940 to 1971, DES was given to pregnant women in the mistaken belief it would reduce the risk of pregnancy complications and losses.
In 1971, DES was shown to cause a rare vaginal tumor in girls and women who had been exposed to this drug in utero. The United States Food and Drug Administration subsequently withdrew DES from use in pregnant women.
teratogens: cause ?
folate antagonists:代表药物?机制?致畸作用?
代表药物 methotrexate and pemetrexed ( Alimta);
机制: inhibit dihydrofolate reductase (DHFR)】
致畸作用:neural tube defects
teratogens: cause ?
Lithium
Ebstein anomaly (atrialized RV)
rare heart defect in which parts of the tricuspid valve are abnormal: one or two of the leaflets are stuck to the wall of the heart and don’t move normally. Back flow from RV to RA
teratogens: cause ?
methimazole
Me‘thimazole 甲巯基咪唑,他巴唑
甲亢药,inhibit peroxidase only (最严重的副作用是agranulocytosis
teratogens: aplasia cutis congenita 先天性皮肤发育不全
teratogens: cause ?
thalidomide
反应停
teratogens: cause ?
val‘proate
丙戊酸 (抗癫痫药) 致畸作用是抗叶酸
teratogens: cause ?
warfarin? 孕妇抗凝用什么药?
heparin
fetal alcohol syn
one of the leading causes of congenital malformations in the US:
teratogens: cause ?
cocaine:
- abnormal fetal growth
- fetal addiction !
- placental abruption
teratogens: cause ?
smoking, CO?
leading cause for low birth weight;
associated with preterm labor, placental problems, IUGR, ADHD
teratogens: cause ?
Iodine (lack or excess)
congenital goiter or hypothyrodism (cretinism)
teratogens: cause ?
Maternal diabetes?
“Caudal regression syn”
- anal atresia 肛门闭锁 , sirenomelia 人鱼腿 (并腿畸形)
- congenital heart defects
- neural tube defects
teratogens: cause ?
Vit A excess
abortion
monozygotic twins:
胚胎形成的几个关键阶段?
如何决定是否share placenta, etc?
2-cell stage - morula (桑椹胚) - blastocyst (囊)胚泡 -
分开的顺序:placenta - chorion - amnion
placenta组成, 各自功能?
- fetal component:
1) cytotrophoblast: 细胞滋养层 inner layer of chorionic villa
2) syncytiotrophoblast: 合胞体滋养层 - secrete hCG
- maternal component:
decidua basalis: 底蜕膜,基蜕膜
umbilical cord derived from ?
组成?
umbilical cord derived from allantois 尿囊 [ә’læntәuis]
2 umbilical arteries - returned deoxygenated blood from fetal internal iliac A to placenta
1 umbilical vein: drain into IVC via liver or ductus venous
urachus:
derived from? at which developmental stage?
failure of urachus to obliterate results in?
urachus: 脐尿管 duct between fetal bladder and yolk sac
derived from:allantois 尿囊 [ә’læntәuis] (extends from the talk sac into the urogenital sinus)
at which developmental stage: wk 3
failure of urachus to obliterate results in:
- Patent urachus: urines discharge from umbilicus (脐尿管完全未闭:从脐带里漏尿)
- urachal cyst: (脐尿管部分未闭:cavity lined with uroepithelium, - can lead to infection, adenocarcinoma)
- vesicourachal diverticulum: 膀胱脐尿管憩室
vitelline duct:
connect what?
obliterate at which developmental stage?
failure of vitelline duct to close results in? Cx?
卵黄管
connect: yolk sac to miggut lumen
obliterate at which developmental stage: 7th wk
failure of vitelline duct to close results in:
- vitelline fistula - meconium 胎粪 discharge from umbilicus
- meckel diverticulum: true diverticulum; Cx: melena, periumbilical pain, and ulcers
meckel diverticulum:
rue or pseudo diverticulum? 各自定义?
define meckel diverticulum
Cx?
组织学特点
Dx:
true diverticulum: 包含肠壁的全部3层:mucosa, submucosa, mascularis;
pseudo diverticulum: 包含肠壁的2层:mucosa, submucosa only [e.g.: Zenker’s diverticulum]
Cx: melena, periumbilical pain, and ulcers (感染情况下很难和急性阑尾炎区别)
组织学特点: may contain ectopic gastric mucosa and/or pancreatic tissue
Dx: 99mmTc-pertechnetate scan in the right lower abdominal quadrant 【 99m锝扫描】
aortic A derivatives:
1st: 1st is maximal - part of maxillary artery 上颌动脉 [branch of external carotid]
2nd: Second = Stapedial
Stapedial A 镫骨A + hyoid A [‘haiɒid] 舌骨
3rd: C is the 3rd letter
- Common Carotid A and proximal part of internal carotid A
4th: (4 limbs = systemic)
- left: aortic arch
- right: proximal part of right subclavian A
6th: proximal part of pulmonary a and (left) DA (ductus arterioles)
branchial apparatus:
又名?组成?胚层起源?
鳃器, 又名pharyngeal apparatus
组成: CAP
1. branchial Clefts: 鳃裂, [又名branchial grooves], derived from ectoderm
- branchial arches: 鳃弓
derived from mesoderm (- muscles, arteries) and neural crest (- bones, cartilages) - branchial pouches: 鳃囊
derived from endoderm
branchial Clefts (鳃裂) derivatives
不闭锁导致?
1st cleft: - external auditory meatus 外耳道
2nd - 4th clefts: temporary cervical sinus, will obliterated by proliferation of the 2nd arch mesenchyme
if persistent cervical sinus - 导致branchial cleft cyst within lateral neck
branchial arch (鳃弓) derivatives:
1st arch:
- cartilage:
- Muscle
- Nerves:
- abnormalities
branchial arch (鳃弓) derivatives 总体口诀:
“At the restaurant of the golden arches, children first chew (1), smile (2) then swallow stylishly (3), or simply swallow (4) and then speak (6).
1st arch:
1. cartilage: Meckel cartilage (mandible 下颌骨, malleus 锤骨, incus 砧骨, spheno-mandibular ligament 蝶下颌韧带)
- Muscle:
mastication: temporalis 颞肌, masseter 咬肌, pterygoid 翼状肌, mylohyoid 【mailou’hai,ouid] 下颌舌骨肌, anterior belly of digastric 二腹肌, tensor veli palatini 腭帆张肌, tensor tympani 鼓膜张肌 - Nerves: chew - CN V2 and V3
- abnormalities:
“Teacher Collins Syn”: 1st-arch neural crest fails to migrate - madibular (下颌骨)hypoplasia, facial abnormalities
branchial arch (鳃弓) derivatives:
2nd arch:
- cartilage:
- Muscle
- Nerves:
- abnormalities
branchial arch (鳃弓) derivatives 总体口诀:
“At the restaurant of the golden arches, children first chew (1), smile (2) then swallow stylishly (3), or simply swallow (4) and then speak (6).
2nd arch:
- cartilage: Reichert cartilage 【stapes,镫骨; styloid process 茎突; lessor horn of hyoid 舌骨; stylohyoid ligament 茎突舌骨韧带】
- Muscle: muscles of facial expression [Stapedius, Stylohyoid, platySma (pla’tisma) 颈阔肌, belly of digastric 二腹肌
- Nerves: CN VII (facial expression - Smile)
- abnormalities:
Congenital pharyngocutaneous fistula:
persistence of cleft and pouch - fistula between tonsillar area and lateral neck
branchial arch (鳃弓) derivatives:
3rd arch:
- cartilage:
- Muscle
- Nerves:
- abnormalities
branchial arch (鳃弓) derivatives 总体口诀:
“At the restaurant of the golden arches, children first chew (1), smile (2) then swallow stylishly (3), or simply swallow (4) and then speak (6).
3rd arch:
1. cartilage: greater horn of hyoid 舌骨
- Muscle: stylopharyngeus 茎突咽肌 (innervated by glossopharyngeal n)
- Nerves: CN IX [stylopharyngeus - swallow stylishly]
branchial arch (鳃弓) derivatives:
4th - 6 th arch:
- cartilage:
- Muscle
- Nerves:
- abnormalities
branchial arch (鳃弓) derivatives 总体口诀:
“At the restaurant of the golden arches, children first chew (1), smile (2) then swallow stylishly (3), or simply swallow (4) and then speak (6).
4th - 6 th arch:
- cartilage: for thyroid, cricoid 环状软骨, arytenoid 杓状软骨, corniculate 小角软骨, cuneiform 楔骨
- Muscle:
1) 4th: pharyngeal constrictors, cricothyroid 环甲肌, levator veli palatini 腭帆提肌
2) 6th: all intrinsic muscles of larynx except cricothyroid - Nerves:
1) 4th: “simply swallow” - CN X (superior laryngeal branch)
2) 6th: “speak” - CN X (recurrent laryngeal branch)
4. abnormalities
branchial pouch derivatives:
1st pouch:
“Ear, tonsil, bottom-to-top”
1st pouch: “ear”
branchial pouch derivatives:
2nd pouch:
“Ear, tonsil, bottom-to-top”
2nd pouch: tonsil 扁桃体
epithelial lining of palatine tonsil 腭扁桃体
branchial pouch derivatives:
3rd pouch:
3rd pouch contributes to 3 structures:
thymus, left + right inferior parathyroids
3rd-pouch structures end up BELOW 4th-pouch structures (superior parathyroids)
branchial pouch derivatives:
4th pouch:
“Ear, tonsil, bottom-to-top”
dorsal wings develop into uperior parathyroids
DiGeorge Syn:
Cause?
Cx?
aberrant development of 3rd and 4th pouches :
1) thymic aplasia - T-cell deficiency
2) failure of parathyroid development - hypocalcemia
3) conotruncal anomalies
MEN 2A :
mutation?
Cx?
Multiple endocrine neoplasias (MEN) 2A
mutation of germ line RET (neural crest cells):
- adrenal medulla (pheochromocytoma)
- parathyroid tumor: 3rd/ 4th pharyngeal pouch
- parafollicular cells (medullary thyroid cancer): derived from neural crest cells, associated with the 4th/5th pharyngeal pouches
Cleft lip vs. cleft palate:
etiology:
Cleft lip: failure of fusion of the maxillary (上颌) and medial nasal processes - formation of 1° palate
cleft palate: failure of fusion of the 2 lateral palatine processes, - formation of 2° palate
Genital development:
which gender is default?
sex organs derived from?
which gender is default: female
sex organs derived from: mesonephron (interact with urogenital sinus)
female genital development:
哪种结构degenerate, 哪种develop (这种结构又名)?
female genital development:
哪种结构degenerate: mesonephric duct
哪种develop: paramesonephric duct develops
这种结构又名: Mullerian duct
male genital development:
重要的一个基因和2种细胞?分别分泌什么?功能?
- SRY gene on Y-chromosome:
- produce testis-determining factor
- testes development - Sertoli cells
- secrete Mullerian inhibitory factor (MIF) 否则米勒管就发育成女性生殖器官
- suppress development of paramesonephric duct
[记忆法:男性喜欢玩SM] - Leydig cells
- secrete androgens
- stimulate the development of mesonephric ducts
[记忆法:LA是SM的天堂]
Mullerian duct: 又名?
develop into?
abnormalities result in?
Mullerian duct: 又名paramesonephric duct
develop into: female internal structures (fallopian tubes, uterus, upper portion of vagina [note: lower portion from urogenital sinus]
abnormalities result in: anatomical defects, may present as 1° amenorrhea in females with normal 2° sexual characteristics (indicting the functional ovaries)
Wolffian duct: 又名?
develop into?
abnormalities result in?
Wolffian duct: 又名mesonephric duct
develop into male internal structures
[SEED: seminal vesicles 精囊,epididymis 附睾,ejaculatory duct 射精管,ductus deferens ]
complete failure of fusion of the paramesonephric ducts?
imcomplete failure of fusion of the paramesonephric ducts? - Can lead to?
complete failure of fusion of the paramesonephric ducts: double uterus and vagina
imcomplete failure of fusion of the paramesonephric ducts - bicornuate uterus 双角子宫
- Can lead to recurrent miscarriage