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A&P Lecture 16
| Question | Answer |
|---|---|
| Development is | the progressive changes during the lifespan of an organism spanning fertilization to death |
| Changes in | size, shape, function, genotype, and phenotype |
| Phenotype | physical appearance/clinical presentation |
| Genotype | DNA sequence |
| Phenotype= female | Presence of ovaries, uterus, cervix |
| Phenotype= male | Presence of testes, sperm, penis |
| Genotype= female | XX |
| Genotype= male | XY |
| Down syndrome phenotype | Bent V phalange Flat nose Small eyes Intellectual disability |
| Down syndrome genotype | Trisomy 21 (three copies of the 21st chromosome) |
| Swyer syndrome phenotype | External female sex organs Absent ovaries (cryptorchid testes) |
| Swyer syndrome genotype | XY (-SRY) or mutant SRY |
| Humans have (amount of chromosomes) | 23 pairs of chromosome= 46 total (23 from mom, 23 from dad) |
| When genes are paired, they are considered | diploid (2n) |
| Development begins at | fertilization, when a sperm attaches to the egg and their contents (DNA) fuse |
| This process (fertilization) results in a | diploid (2n) zygote containing 23 pairs of chromosomes |
| Fertilization Step 1 | Sperm contacts corona radiata |
| Fertilization Step 2 | Sperm dives deeper in the zone pellucid, activates ZP3, starting enzymatic reaction (acrosomal reaction) |
| Fertilization Step 3 | Sperm attaches to a receptor on oocyte triggering depolarization and a wave of calcium. This calcium modifies inactivates ZP3 elsewhere, preventing another sperm from fertilizing egg |
| Fertilization Step 4 | Entrance of sperm stimulates meiotic division, forming the second polar body |
| Fertilization Step 5 | This newly formed female pronucleus moves towards center to meet the male pronucleus |
| Fertilization Step 6 | These 2 nuclei fuse together, generating a single diploid cell called a zygote |
| The nucleus contains | chromosomal DNA |
| Cell and eggs contains thousands of | mitochondria, which are located in the cytoplasm |
| What also have a small amount of their own DNA. Known as what? | Mitochondria This genetic material is known as mitochondrial DNA or mtDNA |
| Only mtDNA from the egg contributes to | mtDNA to the zygote |
| Each and every cell of your body contains more what DNA than what | maternal paternal |
| Mitochondrial DNA | Traces your maternal lineage and contributes to disease |
| Leigh syndrome | a severe neurological disorder. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure |
| Therapies for diseases chromosomal DNA | 1. IVF 2. Donor sperm/oocyte 3. Donor embryo 4. Preimplantation genetic testing (PGT-M) |
| Therapies for diseased mitochondrial DNA | Nuclear transfer |
| Embryonic development | formation of blastocyst and implantation |
| A blastocyst is | a cluster of diving cells made by a fertilized egg |
| 1st Step of embryonic development | The blastocytes invades the uterine wall, and trophoblast cells begin to form the placenta |
| 2nd Step of embryonic development | Cells from the embryo further invade, surround, and digests the mother’s blood vessel walls, forming a lacunae |
| 3rd Step of embryonic development | Embryonic mesoderm forms blood vessels carrying nutrients that pass from maternal arteries to the developing embryo |
| The placenta is the only organ | linking two different individuals, mother and fetus, termed as blood-placental barrier |
| The functions of the blood-placental barrier are to | 1. Regulate material transfer between the maternal and fetal circulation 2. Exchange oxygen/nutrients from mother with water and CO2 from the embryo 3. Produces hormones 4. Transfer of immunity 5. General barrier protection of embryo |
| 13-14 days after fertilization, the flat embryonic disk folds in on itself forming | three distinct germ layers that give rise to body structures |
| This process is known as | gastrulation |
| Outer | ectoderm (skin and nervous system) |
| Middle | mesoderm (internal organs) |
| Inner= | endoderm (inner lining of organs and glands) |
| The neural tube forms the | early brain and spine |
| This process begins | 18 days after fertilization |
| Neural tube formation, how it works, steps 1-2 | 1. Ectoderm near the cranial end (head) thickens to form neural plate 2. The edges of this plate begin to rise, like 2 waves coming together. The edges are the neural folds and center valley of the neural groove |
| Neural tube formation, how it works, steps 3 | The crests of the folds begin to meet in midline to form the neural tube. Neural crest cells will eventually form glia, PNS, and endocrine |
| Neural tube formation, how it works, steps 4 | The neuroectoderm becomes the brain, spinal cord, and parts of the PNS. This tube completely closes at 26 days |
| f | f |
| f | f |
| Spina bifida is | a general term describing defects of the spinal cord, vertebral column, or both |
| Spina bifida facts | - Clinical presentation can be simple and only found in a vertebrae - Or more complex, resulting in paralyses if limbs, bowls, and bladder - Folic acid (B vitamin folate) is a critical prenatal vitamin that significantly reduces neural tube defects |
| Parturitions | the process by which a baby is born |
| Gestation period | or length of pregnancy, is 40 weeks (280 days) |
| First stage Dilation stage | Begins with onset of uterine contractions. Cervix dilates and lasts 8-24 hours in 95% of births the head is in an inferior position which aids in propelling the fetus out. Here is when the amniotic sac ruptures, releasing amniotic fluid |
| Second stage Expulsion stage | Lasts from maximum cervical dilation until the fetus exits vagina. May be 1 minute to over an hour/ contractions generate pressure (oxytocin) in a positive feedback manner. |
| *****It is important to note that while pushing/contracting the added pressure reduces blood flow to the fetus. During periods of relaxation, uterine pressure decreases and blood flow is returned | |
| Third stage Placental stage | Here the placenta is expelled from the uterus by further contraction. Uterine contractions cause the placenta to tear away from the uterus in limited bleeding |
| APGAR Scores | Physiological assessment of a newborn baby soon after birth |
| Acrocyanosis is an | episodic condition that causes a bluish discoloration of the skin and mucous membranes, usually in the hands and feet. This discoloration is caused by diminished oxyhemoglobin, which may be due to central or local tissue oxygenation defects |
| What does APGAR stand for | Appearance Pulse rate Grimace (crying) Activity (muscle activity) Respiratory effort |
| Congenital Disorder | Abnormalities present at birth, commonly known as birth defects |
| **Congenital Disorder 70% are unknown 15% are environmental factors 15% are known genetic cause | |
| 1% of births Atrial Septal Defect- Blood from both materials are mixing from no wall dividing them 0.3% of births FAC- drinking during birth 0.1% of births Down syndrome |
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liladdoyle