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vocab
| Question | Answer |
|---|---|
| upsplanting | 向上斜 |
| Palpebral | 眼瞼 |
| epicanthal fold | 內眥贅皮 |
| brachydactyly | 短趾 |
| Pinpoint pupils | Opiates (heroin/ morphine/ codine) Barbiturates |
| Dilated pupiles | Cocaine |
| Single transverse palmar crease | 斷掌 |
| digit | A finger thumb or toe |
| clinodactyly | 趾側彎 |
| Double-bubble pattern | Duodenal atresia(Down syndrome) |
| Mentally retarded | 智障 |
| down syndrome 5A‘s | Advanced maternal age duodenal Atresia Atrioventrivular septal defet AML/ĀLL Alzheimer disease |
| DS screening test | first trimester combined test 11-13w second trimester quadruple test 15-18w If high risk- 35, hx of prior pregnancy with trisomy,US features suggesting aneuploiy addition test :integrated tests over the first &secondary trimesters / cell-free DNA |
| DS screening test yield an banormal result -Confirmatory diagnostic tests | Amniocentesis 15-22📞 Chorionic villus sampling 9-14📞 Percutaneous umbilical cord sampling 18-22 |
| Quadruple test 15-18 | DS👇free estriol, alpha-fetoprotein AFP 👆🏾inhibin A, beta hCG |
| cleft lip | 兔唇 |
| micrognathia | 小頜畸形 |
| Edwards syndrome(trisomy 18) | clenched fists, cleft lip and palate, congenital heart defects, diaphragmatic hernia,rocker-button feet, microcephaly, prominent occipit, low-set ears, malformed auricles, micrognathia, malformation of ureters and kidneys 🚑: quadruple test 👇all |
| Primary ovarian insufficiency(ovarian issue) | FSH👆🏾 >40 mlU/ml 📀Estrogen👇 <50 pg/ml E.g Turner syndrome |
| Delayed puberty -delay in the development of secondary sex characteristics | Female individuals • absent breast development by13 years of age Male • as lack of testicular growth by 14 of age |
| Hypogonadism | 性腺機能減退 |
| Polydactyly | 多指 |
| microphthalmia | 小眼畸形 |
| omphalocele | 臍突出 |
| laxity | 鬆弛的 |
| coloboma | 眼組織缺損 |
| volar | 手掌的,足底的 |
| burrows | 挖洞 |
| eradicate | 根除 |
| Chronic granulomatous disease(CGD) | X linked recessive / autosomal recessive = neutrophils· and macrophages·defective in NADPH oxidase 過氧化物酶 減O2一個電子變superoxide O2•- (ROS)活性氧物 |
| HIV infection (in baby ) - FTT,diffuse lymphadenopathy, diarrhea,oral thrushh ,high risk mother | HIV antibody ELISA 酶聯免疫吸附測試 And subsequent Western blot for confirmation. In younger(<18months) : HIV DNA PCR |
| Fanconi syndrome ( Type2 renal tubular acidosis ) | proximal renal tubular acidosis generalized dysfunction of the PCT that is unable to reabosrb HCO3-, phosphate,-amino acid Urine PH>5.5 偏鹼 血HCO3低-代酸 |
| Rickets | 佝僂病 |
| Type1 renal tubular acidosis (distal) | a-intercalated cell of the distal tubule are unable to secrete H+ ~>intracellar production of HCO3少 ~> HCO3/Cl exchange activity~> decrease concentration of HCO3 in blood ~> metabolic acidosis Nephrocalcinosis(increase pH in urine) |
| Thrush | 鵝口瘡(真菌性口炎) |
| DiGeorge syndrome(22q11.2 deletion syndrome) | Hypoplastic thymus and parathyroids |
| tetany | 肌肉痙攣/強直(hypocal) |
| B cell immunodeficiencies | humoral immunity lymphoid tissue ( tonsils ,lymph nodes ) pyogenic infection(pneumonia,otitis media) ❤️prophylatic antibiótica |
| T cell immunodeficiencies | Cellular immunity Viral/fungal/PCP pneumonia, cold abscess,TB |
| Leukocyte adhesion deficiency type 1 (LAD1) | Defect in leukocytic chemotaxis that results in decreased phagocyte activity. Eti. Autosomal recessive ; absence of adhesion surface molecule LFA-1(CD18),prevent leukocytes form migrating to tissues.👶🏾nonsuppurative bacterial infection, 👶🏾delayed 臍脫落 |
| omphalitis | 臍炎 |
| Delayed separation of the umbilical | LAD1 ( >30 days of postpartum) |
| gynecomastia | 女性乳房 |
| aromatase | 芳香化酶 Is responsible for conversion of testosterone to estradiol |
| Acidemia | pH<7.38 |
| Alkalemia | pH>7.42 |
| MET acidosis PaCO2 預計值 | PaCO2= 1.5 x bicarbonate + 8 |
| Met alkalosis PaCO2 | PaCO2 (mmHg) = 0.7 x bicarbonate + 21 |
| calcaneus | 跟骨 |
| talus | 距骨 |
| navicular | 舟骨 |
| cuneiform | 楔骨 |
| Metatarsal | 跖骨 |
| windlass mechanism | Plantar fasciitis |
| osmolality | 2*Na + glucose +urea 全部mmol/L |
| hyponatremia 時 volume status 的 lab 評估 | hematocrit + BUN/Cr ⤴️➕>20 hypovolemic ⤵️➕<20 euvolemic/hypervolemic |
| SIADH | hyponatraemia + euvolemic |
| hypothyroidism 使低na原因 | 1.心輸出量少使腎灌注不足,刺激ADH分泌 2.甲狀腺素係腎小管NA-K-2CL嘅轉錄因子,咁少左就吸唔返啲na返黎 |
| the risk of AKI in CK level | CK >=5000 U/L |
| The cut off value of PCT for discontinuation of antibiotics (de-escalation) | PCT levels below 0.25-0.5 ng/ml 80-90% decline from baseline |
| amaurosis fugax | 一過性黑蒙 |
| paroxysmal | 突發性 |
| frothy sputum | 泡沫痰 |
| nocturnal | 夜間 paroxysmal nocturnal dyspnea |
| orthopnea | 端坐呼吸 |
| bibasilar crackles | 雙肺底濕羅音 |
| jugular venous distention | 頸靚脈怒張 |
| eccentric | 偏心性 |
| concentric | 向心性 |
| Notable signs of volume depletion | Thirst Decreased skin turgor Dry mucous membranes Tachycardia Low BP or postural hypotension |
| Myxomatous | 黏液瘤 |
| Subungual capillary pulsation | 甲下毛細血管膊動 |
| blue livid | 青紫色 |
| erythema multiforme | 多形性紅斑 |
| Kussmaul sign | 吸氣JVD,係CVP高嘅表現(血難入右心) |
| MCV/RBC<13【Mentzer index】 | thalassemia(有生緊RBC) |
| Maintenance Fluid Rate (Holliday-Segar nomogram) | 100-50-20 ml/kg 👉🏽4-2-1 ml/kg/h 100 ml/kg/24hr 👉🏽4 ml/kg/hr for the 1st 10 kg ➕The 2nd 10kg ➕the remaining wt. |
| janeway lesion | 無痛,不規則紅斑,出血性斑塊,位於手掌✋足底🦶(thenar,hypotenar),邊緣清晰 因acute IE,化膿性微栓塞septic microemboli阻塞皮膚小血管,可幾bac同NE |
| Osler nodes | Painful,紫紅性小結節 1-1.5mm,有中心蒼白,係手指腳趾尖,last 幾日,會自行消退 subacute IE,免疫介導,有中粒冇細菌 |
| Acute symptomatic hyponatraemia | Admisteration of hypertonic 3%saline 150ml IV over 15 min , repeat after 20min if on clinical improvement check serum na at 6,12,24,48 for over correction (no more than 10mmol/l in 24h ) |
| PT | warfarin |
| aPTT | heparin |