On CVC

subclavian v., internal jagular v. 感染及mechanical complication的機率較低
最後要把CVC放到 vena cava 跟 RA 的交界
Internal jagular v. approach
1. 在SCM及clavicle形成的 △ 的頂點，這是 int. jugular v. 跟 brachiocephalic v. 匯流的 anatomical landmark
2. 打local：1~2ml 1% lidocaine, 用25-gauge的針。使病人頭下腳上(Trendelenburg postion)，頭往另一側轉45度(轉太超過反而會使v.扁掉)
3. 在1.頂點略上方，carotid pulse旁邊進針。與水平面夾20度，也就是針對著同側乳頭方向進針。約在皮下1.3cm即可戳到v.
4. 戳到靜脈後，留針，把syringe拿起，把guidewire 的J形端插入。rhythm改變時，稍微退回wire直到rhythm回復正常
5. 拔掉針頭，切個約1~2mm的切口。放dilator擴張後拿掉，再把CVC延wire放入，然後移除guidewire，確認血流正常，然後sterile dressing

Ref: N Engl J Med 2007;356;e21

插胸管

Indication: -thorax
(Relative) Contraindication: bleeding diseases, coagulopathy. 可以的話先校正(ex. FFP, PLT)
Chest tube size: (stable)16-22Fr (unstable)24-28Fr

步驟
1. 可以的話先告知，prepare，sedation
2. Position: supine, semirecumbent. 手放頭後or外展
3. incision：4th~6th intercostal space & ant. axillary line 交界。胸管要放到 Triangle of safety(pectoralis major, latissimus dorsi, nipple horizontal) *放胸管的地方會在incision上方的肋間歐。
4. 打local: 1% or 2% lidocaine. 先用25-gauge的針，碰到rib打出個wheal，再用21-gauge的針，碰到rib往上(也就是進到上一個肋間)打更下層的SC, pleural space. 可反抽，若有血水(hemothorax)或空氣(pneumothorax)表示已經到pleural space了，把剩下的lidocaine打進去。total dose 約在10~20ml.
5. 沿 rib 切個約1.5~2cm的開口。用Kelly 往上一肋間，對SC layer, intercostal m. 做blunt dissection。

(待續)

Beckwith-Wiedemann Syndrome

1. Beckwith-Wiedemann syndrome (BWS): The association of macrosomia (88%, enlarged body size: birth weight > 90%, ↑postnatal growth), macroglossia (97%, enlarged tongue大舌), and omphalocele(80%, 臍膨出).
2. Other associated findings include mild facial dysmorphism (hypertelorism, unusual ear creases), infantile hypoglycemia due to transient hyperinsulinemia (63%, due to pancreatic hyperplasia), multiple congenital anomalies (cleft palate and genitourinary anomalies common), hemihyperplasia (asymmetrical overgrowth of a limb or one side of the face or trunk), and umbilical hernia, gigantism(巨人症), fetal adrenocortical cytomegaly, and large kidneys with medullary dysplasia.…
3. 和PMH有很大的關係：Placental mesenchymal hyperplasia (PMH)
1. a rare placental anomaly characterized by: (1) placentomegaly, (2) dilated chorionic plate vessels, and (3) grape-like vesicles, which are dilated villi.
2. PMH may be associated with an uneventful pregnancy and normal fetus. However, it may also be associated with clinically important fetal sequelae that include fetal growth restriction, intrauterine death, preterm delivery, fetal anomalies, fetal anemia, and a high association with BWS.
3. BWS的母親可能會有：Viseromegaly, placentomegaly
4. Related to abnormal expression of genes located at chromosome 11p15.5, sporadic major, possibly familial.
1. 在11p上有一些基因imprint於其上，可能是從父親(paternally)或母親(maternally)傳下來的。目前找到了兩個地方，叫做differentially methylated regions (DMRs)，可稱為DMR1, DMR2。
2. 染色體的異常會影響基因的表現：A growth factor gene, IGF2, is imprinted in DMR1。而母方的allele基本上在intrauterine development時是不表現的(inactive)，但父方則否(paternally active)，所以正常人只有一份active。若異常使得父方(paternal) 11p15 region做了兩份(約20~30%的病人是這種情形，叫作uniparental disomy)，或是母方的imprint丟失，這會使active IGF2 gene效果加倍!! IGF2在fetal development時製造增加，所以BWS的小孩會overgrowth。
3. 而50~60%的病人是因為失去了父親的(paternal) imprint of DMR2(包含如KCNQ1, CDKN1C之類的基因)，這會silence掉growth inhibitors，這樣解釋小孩也會overgrowth且得到tumor的機會會增加，然而詳細的機轉仍不明。
4. 而BWS也跟Paternal UPD有關，Paternal UPD可能會導致H19 不表現，而H19是一個tumor suppressor gene(通常來自母方 maternal homolog)！這樣也可以解釋BWS容易得到癌症的情形，約70% of Wilms tumors from patients with BWS show loss of imprinting of the genes coding for IGF2 and H19.
5. increased risk for certain malignancies, especially Wilms tumor (7–10%), hepatoblastoma, bilateral pheochromocytomas → 早期發現早期治療
6. Children affected with BWS should undergo tumor surveillance protocols, including an abdominal ultrasound every 3 months until they reach age 7 years, as diagnosing malignancy at early stages leads to a significant improvement in outcome.
7. 其他參考資料可參考財團法人罕見疾病基金會：http://www.tfrd.org.tw/rare/typeCont.php?sno=1505&kind_id=15 

Ref:

1. CURRENT Diagnosis & Treatment: Pediatrics > Chapter 35. Genetics & Dysmorphology > Nonmendelian Disorders > Disorders of Imprinting
2. Greenspan's Basic & Clinical Endocrinology > Chapter 7. Growth > Disorders of Growth > Tall Stature Due to Nonendocrine Causes > Syndromes of Tall Stature
3. Greenspan's Basic & Clinical Endocrinology > Chapter 12. Adrenal Medulla & Paraganglia > Pheochromocytoma > Genetic Conditions Associated with Pheochromocytomas & Paragangliomas > Other Genetic Syndromes Associated with Pheochromocytoma
4. Williams Hematology, 8e > Chapter 10. Genomics and Epigenetics > Genomics and Epigenetics > Genomic Imprinting
5. Williams Obstetrics, 23e Clinical Pearls: Placental Mesenchymal Hyperplasia

Management of Early Morning Hyperglycemia in Patients with Type 1 Disease

在馬偕小兒念到 Dawn phenomenon，恰巧之前也在學長板上看到：

今天才知道早上AC sugar高→調高HS的insulin劑量完全是錯誤的
不該是一個內科醫師該有的行為@@

(雖然我應該沒做過這種事 可是聽起來超級無敵合理的!!!!)
據說AC sugar高的正確動作是半夜三點再測一次

一時興起，查了一下

Somogyi effect: 半夜低血糖會引發回饋，分泌激素使得晨血增高。
Dawn phenomenon: 較常見，因為 insulin 已耗盡。75% Type 1 DM 跟大多數 T2DM 及正常人，因為在入睡時 Growth hormone 被釋放，使得在5~8點時 insulin 的 tissue sensitivity會降低。
Dx: 半夜三點多抽一次血糖
Tx: 可分作幾種情形─A. Waning of circulating insulin levels, B. dawn phenomenon, C. Somogyi effect

1. Somogyi effect: ↓睡前insulin。
2. A. or B. or A.+B.：↑basal insulin。用NPH的則建議改成 insulin glargine 上pump的，在4~5點調高 basal infusion rate。可看半夜三點的 sugar 作調整。
3. A.+B.+C.：書上沒寫，我想應該是 (1) + (2) 吧
   
   

Table 18–17. Typical Patterns of Overnight Blood Glucose Levels and Serum Free Immunoreactive Insulin Levels in Prebreakfast Hyperglycemia Due to Various Causes in Patients with Type 1 Diabetes.	Blood Glucose Levels (mg/dL)			Serum Free Immunoreactive Insulin Levels (μU/mL)
	10 PM	3 AM	7 AM	10 PM	3 AM	7 AM
Somogyi effect	90	40	200	High	Slightly high	Normal
"Dawn phenomenon"	110	110	150	Normal	Normal	Normal
Waning of circulating insulin levels plus "dawn phenomenon"	110	190	220	Normal	Low	Low
Waning of circulating insulin levels plus "dawn phenomenon" plus Somogyi effect	110	40	380	High	Normal	Low

Reference: Greenspan's Basic & Clinical Endocrinology > Chapter 18. Pancreatic Hormones & Diabetes Mellitus