| Pediatrics
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●●General ☉Developmental milestone 3 mo: head control 6 mo: palmar grasp 七坐八爬九發牙 1 y/o: walk alone, speak first real word（媽媽） 2 y/o: jump, three word sentence（我愛你）,6 cubes 3 y/o: pedals Tricycle, give name（我叫XXX）,10 cubes 4 y/o: hop on one foot, ask questions（為什麼？） ☉Primitive Reflexes Moro 0-4 months Palmar grasp 0-3 months Trunk incurving 5 months Asymmetric tonic neck 2-6 months Babinski 18 months 1. 脊髄レベルの反射 脊髄内に中枢を持つ反射であり、生後3ヶ月頃には消失する。 →把握反射 足の把握反射は手よりも消失が遅い。 2. 脊髄-橋レベルの反射 生後6ヶ月頃までに上位中枢の発達により消失する。 →緊張性頸反射 tonic neck reflex 健常児を仰臥位に寝かせて頭を横に向けると腕が伸展する反射をいう。 →モロー反射,抱擁反射 Moro reflex 乳児の頭を45度上げた状態から急に支えを除くと頭の落下とともに腕を外転伸展させて手を開いた後に腕を内転 させる。 両側の減弱は核黄疸などの中枢性障害、片側の減弱は分娩麻痺などの末梢性障害を疑わせる。 3. 中脳レベルの反射 生後6ヶ月頃に出現し、皮質が成熟する5歳頃まで残存する。 →立ち直り反射 righting relfex 頸立ち直り反射 体幹立ち直り反射 迷路性立ち直り反射 視性立ち直り反射 4. 大脳皮質レベルの反射 生後8ヶ月頃に出現し、獲得後は一生存在する平衡反応である。大脳皮質のみならず基底核や小脳も関与している。 →パラシュート反射 parachute reflex →とびはね反応 hopping reaction ☉simple febrile seizures 1.age: 9mo-5y/o 2.BT>39 3.on abrupt BT↑, no recurrence 4.GTC, no focal convulsion 5.No focal neurological signs 6.duration< 15-20 min 7.EEG normal after 2 wk ☉Breast milk →Colostrum is high in protein, zinc, and other minerals. It contains less fat, carbohydrates, and calories than breast milk. Between the third and sixth day after birth, colostrum changes to a transitional form of breast milk. During this time, the amount of protein and immune factors in the milk gradually decrease, while fat, lactose, and calories in the milk increase. →antibodies and anti-infective factors →promotes the growth of bacteria in the digestive tract. This bacteria is helpful rather than harmful and assists with the digestion of food. In addition, breast milk contains immune factors that help an infant fight infection. These immune factors also help prevent the infant from developing possible food allergies. →The proteins in human breast milk are mostly whey乳漿 and casein酪蛋白. Cow's milk contains more casein, and human breast milk contains more whey. Whey is more easily tolerated by an infant's digestive system. →essential fats. It also contains cholesterol. Both are needed by infants to make tissues in the nervous system. The amount of fat in breast milk rises greatly at the end of a breastfeeding session. This may be nature's way of making an infant feel full and stop feeding. →large amounts of lactose, which is a carbohydrate. Lactose is used in tissues of the brain and spinal cord, and it provides the infant with energy. Bacteria in the infant's intestines feed on lactose and produce B vitamins. Lactose may also help the infant absorb essential nutrients such as calcium, phosphorus, and magnesium. →only a small amount of iron, but the iron in breast milk is easily absorbed. Fifty percent of the iron in human breast milk is absorbed compared with only 4 to 10 percent of the iron in cow's milk or commercial infant formulas. →contains all the vitamins an infant needs for good health. The actual amount of each vitamin can vary, depending on a woman's diet and genetic makeup. ●Genetic/ Metabolic ☉Down syndrome: Trisomy 21（不會就二一的病） →Micrognathia, hypertelorism, macroglossia with freq. protruding, low nose bridge, frontal boxing, epicanthal folds, brushfield spots, clinodactyly, simian creases →VSD+ASD, ECD →duodenal atresia, congenital megacolon, anus imperforate →hypothyroidism ☉Turner syndrome: 45XO（少一個Y）女 →most common sex chr. anomaly →short stature, gonadal atrophy, lymphedema, low hair line, web neck, cubitus valgus, horseshoe kidney ☉Klinefelter syndrome: 47 XXY（多一個Y）男 ☉Prader-Willi syndrome: deletion of chr.15 q11-13, from father: "Imprinting" →H3O: hypotonia, hypogonadism, hypomentia, obesity ☉Angelman syndrome: deletion of chr.15 q11-13, from mother（女人是天使） →more severe ☉DiGeorge syndrome: Velocardiofacial syndrome →CATCH２２: cardiac anomaly, abnormal face, thymus hypoplasia, cellular immunity↓↓, cleft palate, hypoparathyroidism, chr.22 deletion ☉Cat cry syndrome: chr.5 deletion（五子哭墓！） ☉Mass screening of congenital dz: 1.G6PD def.(1-3%) 2.Congenital hypothyroidism 3.PKU(Phenylketonurie) →Überschüssiges Phenylalanin, eine essentielle Aminosäure, wird im gesunden Organismus mit Hilfe des Enzyms Phenylalanin-Hydroxylase zu der Aminosäure Tyrosin abgebaut. →autosomal-rezessive Stoffwechselerkrankung →Unbehandelte Kinder zeigen schwere geistige Defekte, epileptische Anfälle, Hypertonie der Muskeln, Hirnkleinwuchs, Pigmentstörungen auf der Haut, ekzemähnliche Hautveränderungen, allgemeine Übererregbarkeit und, wie erwähnt, einen unangenehmen Geruch nach Azeton, also etwa so wie ein Nagellackentferner. 4.Homocysteinemia → disruption of any of the 3 interrelated pathways of methionine metabolism—deficiency in the cystathionine B-synthase (CBS) enzyme, defective methylcobalamin synthesis, or abnormality in methylene tetrahydrofolate reductase (MTHFR). → independent risk factor for all types of vascular diseases—cerebrovascular accidents, coronary artery disease, and peripheral vascular disease. 5.Galactocemia →Galactose-1-Phosphate Uridyltransferase Deficiency (GALT) :abnormal galactose tolerance →This enzyme catalyzes conversion of galactose-1-phosphate and UDP glucose to UDP galactose and glucose-1-phosphate. →Almost all infants on a lactose-containing diet manifest poor weight gain →Liver dysfunction and/or hepatomegaly, Vitreous hemorrhage →urine-reducing substances test 6.CAH ☉Maple Syrup Urine Disease(MSUD)（剪楓樹的葉） → a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKD) complex, which catalyses the decarboxylation of the alpha-keto acids of leucine, isoleucine, and valine to their respective branched-chain acyl-CoAs. → Accumulation, of leucine in particular, causes neurological symptoms, whereas elevation of plasma isoleucine is associated with the maple syrup odor. → neurological signs (eg, ★alternating muscular hypotonia and hypertonia, dystonia, seizures, encephalopathy) → ★Ketosis and the characteristic odor of maple syrup in the urine. ☉organic acidemia →characterized by the excretion of non-amino organic acids in urine. →abnormal amino acid catabolism of branched chain amino acids or lysine. They include maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia (MMA), isovaleric acidemia, biotin-unresponsive 3-methylcrotonyl-CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency, ketothiolase deficiency, and glutaric acidemia type I (GA I). →The usual clinical presentation is that of a toxic ★encephalopathy and includes vomiting, poor feeding, neurologic symptoms such as seizures and ★abnormal tone, and lethargy progressing to coma. →Diagnosis: acidosis, ketosis, hyperammonemia, abnormal liver function tests, hypoglycemia, and neutropenia. Propionic acidemia may present with isolated hyperammonemia early in its course. First-line diagnosis in the organic acidemias is urine organic acid analysis using gas chromatography with mass spectrometry (GC/MS), utilizing a capillary column. ●Infecion ☉Vaccination BCG: birth DTP/oral polio: 2, 4, 6, 18 mo MMR/J.E.: 15 mo ☉summer fever 1. BT< 39C 2. range<1C 3. peak: early morning ☉TORCH T Toxoplasma R Rubella C Cytomegalic inclusion disease (CID, CMV) : most common, CNS disorder H Herpes S Syphilis ☉Acute sinusitis: only maxillary & ethmoid in children ☉AOM: Amoxicillin 10 days ☉Acute Tonsillits A.Viral 1.Pharyngoconjunctival fever: adenovirus 2.Herpangina: enterovius (not Herpes!!)後口 ←→herpetic gingivostomatitis前口 3.Hand-foot-mouth dz: enterovirus 71 向心（不用抗生素治療！！） ←→chicken pox離心 B.Streptococcal treat with Penicilin（「青」澀之「鍊」） ☉Pertussis →whooping cough,k intermittent continuous →throat culture →Tx: Erythromycin ☉Croup →inspiratory stridor, hoarseness, barking cough, suprasternal retraction, dyspnea 1.Epiglottis: Hib, lat. view of neck 2.Subglottis(Viral croup): Parinfluenza virus, Steeple sign, hourglass sign, loss of shoulder sign 3.Bacterial tracheitis ☉Acute Brochiolitis: RSV, <2 y/o, D/D: bronchial asthma (>2 y/o, allergic family hx, 3 times, Eosinophil, no infection, response to epinephrine) ☉Acute myocarditis →gr. B Coxsackieviruses ●Oncology ☉Incidence leukemia 38%(70% ALL) brain tumor 19% lymphoma 7.6% neuroblastoma 5% ☉9 symptoms: Hema: pallor, petechia, fever Neuro: bone pain, IICP, eyeball light Mass: LAP,Hepatosplenomegaly, mass ☉TIT: MTX, Ara-C, hydrocortisone ☉Mesenteric cyst/Omental cyst: lymphangioma Enteric cyst: duplication cyst Wilm's tumor: nephroblastoma →伴隨無虹膜與半端肢體肥大 →The epithelial component in this Wilms tumor consists of primitive cuboidal cells ★★★forming tubular structures and rosettes（「圍」成圈圈） Neuroblastoma: sympathetic ganglion, adrenal medulla ☉Astrocytoma: most common brain tumor 1.Pilocystic astrocytoma: optic n, cerebellum, op 2.common type 3.Malignant astrocytoma: meta 4.GBM Germinoma: sella turcica, most common pineal tumor, DI Craniopharyngioma: most common supratentorial tumor, sella, characteristic calcification ●Gastroenterology ☉chronic cholestatic hepatobiliary disease: 1.Biliary atresia 2.Choledochal cyst 3.Neonatal hepatitis: TORCH, esp. CMV (HBV: no!!) 4.Metabolic hepatitis: a1-antitrypsin def. (most common in white) 5.PFIC: MDR3 gene mutation 6.Alagille syndrome: arterio-hepatic dysplasia 7.Hypothyroidism 8.TPN ☉Phsiological Jaundice: unconjucated form 1.2nd-7th(14th) days 2.Bil(T/D): 12.9(15)/1.5-2 3.rate < 5 mg/dl/day ☉Neonatal Jaundice →Production 1.Hemolytic: ABC, Rh, spherocytosis, G6PD def 2.Non-hemolytic: hemorrhage, polycythemia, IDM(EPO↑↑↑) →Excretion 1.Breast feeding jaundice: D2-4：餵食量不夠 2.Breast milk jaundice: D4-7：抑制物質 3.Glucuronyl transferase def. 4.Hypothyroidism ☉Kernicterus →indirect form ☉Dehydration →BW: mild(5%), moderate(10%), severe(15%) →Activity, Thirst, Mucosa, Tear, →★Ant. Fontanelle(10-14 mo closure), Skin turgor, →U.O, Capillary refilling time ●Respiratory ☉Respiratory distress of newborn: →Pulmonary: 1.TTNB: fetal lung fluid 2.PAS: aspiration peumonia 3.RDS: " Hyaline Membrane dz" Surfactant ↓(type II) 4.MAS: Meconium 5.congenital pneumonia 6.lung hypoplasia ☉對於妊娠28至32週者，可給予Decadron 8mg im q12h×4 doses，每週給予一course，可降低胎兒RDS的發生。 ☉Apnea 1.Central: CNS, Infection, Metabolism, Temprature 2.Obstructive: Chest—Lung—Airway axis→more common ●Cardiology ☉Acyanotic: 1.VSD: (1)subpulmonic(subarterial/supracrystal) type: AR (2)perimembranous(subaortic/infracrystal) type: most, TOF (3)AV canal(endocardial cushion) type: Down, gooseneck sign (4)muscular type: →Op indication: Qp/Qx>=2, Rp/Rx<=0.75 with PHTN →with severe pulmonary vascular dz: no Op, Transplantation!! 2.ASD: flask shape (1)ostium secundum:70% (2)ostium primum (3)sinus venosus defect: PAPVR →Fixed splitting S2, gooseneck sign, paradoxical movement 3.Pulmonary/Aortic stenosis 4.Coarctation of aorta: Turner syndrome 5.PDA: →bounding pulse →PGE1 ☉Cyanotic:（幾乎是T家族） 1.TOF: boot shape 2.TGA: →dextro, egg shape →Congenitally corrected type →Jatane op.(Arterial switch), Mustard op.(Atrial switch), ballon septostomy 3.Severe TOF: Pul. atresia with VSD, MAPCA 4.TAP-VR: snowman shape(tap→water→snow) 5.Tricuspid atresia 6.DORV: all from RV 7.Heterotaxy a.Aspenia (RAI) b.Polysplenia(LAI) ☉Aortic arch interruption, →discontinuity of the arch between the ascending and descending aorta. →usually accompanied by ventricular septal defect (VSD) and patent ductus arteriosus. →Typically, the pulmonary artery is connected to the descending aorta by the ductus. （下肢比上肢紅？） →may be associated with more complex congenital heart disease, especially double outlet right ventricle with subpulmonary VSD. →intractable pulmonary oedema →Type A (45% of cases) has the interruption distal to the left subclavian artery; a variation has a right aberrant subclavian artery originating from the descending aorta. Type B (50% of cases) has the interruption between the left carotid and left subclavian artery; a variation has an aberrant right subclavian artery originating from the descending aorta. Type C (5% of cases) has the interruption between the innominate and left carotid artery. A rare variation of Type A and B has the right subclavian artery connected to the right pulmonary artery. ☉Rheumatic Heart in Taiwan →Jones Criteria for rheumatic fever: carditis, polyarthritis, chorea, erythema marginatum, subcutaneous nodules →MR> MR&AR > AR.... →TX: Prednisolone, Aspirin, Penicillin prophylaxis ☉Kawasaki dz 1.Bilateral conjunctivitis 2.pharyngeal edema, dry/fissured or swollen lips, strawberry tongue 3.extremities: erythema, edema, desquamation 4.Polymorphous rash 5.Cervical lymphadenopathy →→30% heart complication →TX: Aspirin, IVIG ●Immunology ☉Severe Combined Immunodeficiency →helper cells function poorly or are absent. →The thymus gland may be small and functions poorly or is absent. →Bone marrow stem cells, from which mature T- and B-lymphocytes arise, are absent, or defective. →Abnormal physical findings are primarily due to infection or GVHD and are not directly due to the primary immunodeficiency →Increased respiratory rate and effort and crepitations secondary to pneumonia (especially PCP) |