施醫師
- Compound B mode
- 2D mode
- 3D mode
Probe
100萬
0-256 level
------------
Situs inversus
Dextrocardia, L loop
Primary ciliary
dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome
is a rare, ciliopathic, autosomal recessive genetic disorder that
causes defects in the action of cilia lining the respiratory tract
(lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube, as well
as in the flagella of sperm cells. The phrase
"immotile ciliary syndrome" is no longer favored as the cilia do have
movement, but may be inefficient or unsynchronized.
------------
Irregular lacuna
前置胎盤v.s.植入性胎盤
植入性胎盤 3d mode：異常血管增生、血管融合
------------
華醫師
FXS, Fragile X syndrome
- Xq27.1 FMR1
- Male 1/4000, female 1/8000
- CGG repeat
- AD
Repeat >
40 permutation: carrier
Repeat >
55 2%
Repeat >
200 100% full methylation
父親遺傳 長度不會增加
母親遺傳會anticipation
FXPOI
- Primary ovary insufficiency
- Average Age 28 開始排卵異常
- 20% permutation woman would have FXPOI
------------
FXTAS
- Tremor Ataxia
- Age related
- Male>female
------------
CGG Repeated
primed PCR
台大3350
外面檢驗收兩千多，不過是做傳統PCR
------------
AGGs增加精確度
降低full
mutation發生率
可以偵測高達1300
CGGs
Homozygous or
heterozygous
------------
Carrier
Israel 1 in
158
Taiwan 1 in
333
------------
Early
treatment
- Drug clinical trial
- Occupation therapy
Prevent next
sibling
------------
SMA; Spinal Muscular Atrophy
- Anterior horn cells, bilateral, Proximal lower limbs
- 5q13 AR
- SMN1 Gene 共8 exons
- SMN2 exon 7 沒有表現
95% SNM1
Homozygous mutation
2% point
mutation
Carrier: 1/40
Taiwan: 2.04%
only has one SMA1
Tx:
- Valproic acid 蔡力凱醫師發表
- Gene therapy 效果不好
- Antisense oligonucleotide
------------
MLPA Gold
standard
37 target
regions
跟housekeeping
gene 比較
Chromosome
13, 18, 21做比較
台大MLPA一次2500
外面用傳統方式1500
------------
Multiplex
Ligation-dependent Probe Amplification
Stuffer
sequence(填充序列) 增加跑膠的鑑別性
"The stuffer sequences
are varied in length so that a range of up to 50 targets can be amplified and
separated in a single experiment."
------------
ISIS Cop.
Q PCR
Then drug
Clinical trial
------------
胡教授實驗室每年做十萬個血片
------------
------------
黃醫師 多胞胎妊娠
"珺"要念四聲
<20 weeks
chronic hypertension
>20 weeks
PIH
PIH with others: preeclampsia
PIH with others: preeclampsia
------------
GDM
75g OGTT
Diagnosis 空腹
50g
OGTT screen 不用空腹
------------
超音波
fetus在上下兩周可接受
Placenta:
Hyperechoic
Lambda sign,
beak sign
DC twin
T sign
MC twin
------------
Painless
antepartum hemorrhage
- Anterior placenta implantation
Twins high risk
- Cervical incompetence
Painful
antepartum hemorrhage
- Placenta abruption
------------
Cervical
incompetence
- painless
- Cervical length shortening <2.5cm
------------
Cervical
length shortening with Pain
- Preterm labor
------------
常常來不及Cesarean Delivery
直接NSD
------------
Day 4-8: MCDA
Twins
Day 8-13:
MCMA twins
Day 14:
Conjoined twins
------------
Twins Prevalence 3%
Twins Risk
factor
- Maternal weight and height: Obese (BMI ≥30 kg/m2) and tall women (≥65 inches [164 cm])
- Family history
- Increasing parity
- Race/geographic area
- Age: Naturally conceived dizygotic twinning increases four-fold between age 15 and age 35
- fertility stimulating drugs
------------
CD indication
------------
Presentation
twin
決定於第一個twin 胎位
------------
Slective
reduction
- KCl
- Cord occlusion
------------
Steroid
stimulate lung maturation
2 dose 間距24小時
Week 23-34
------------
TTTS
Disconcordent
+ 羊水量不一樣
10-15% mc
twin
TAPS; TWIN
anemia polycythemia sequence
MCA PSV;
Pulse systolic velocity >1.5x
TRAP; twin
reversed arterial perfusion
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