1例儿童急性三氯异氰尿酸中毒分析

目的探讨儿童急性三氯异氰尿酸中毒的临床表现及实验室特征,为临床救治提供依据。方法回顾性分析l例儿童急性三氯异氰尿酸中毒的临床表现、实验室检查及治疗过程。结果患儿男,3岁5个月,误服三氯异氰尿酸9 h。中毒后主要表现为呕吐、昏迷、抽搐、呼吸急促等;患儿在15~20 h后呕吐、抽搐缓解,并伴有急性肺水肿、电解质紊乱。经救治后患儿未出现严重并发症,48 h后复查肝功能、心肌酶明显好转,7 d后治愈出院。结论本病例患儿急性三氯异氰尿酸中毒是以呕吐、昏迷、抽搐、呼吸急促、急性肺水肿、电解质紊乱为主要特征,采取积极有效的抢救措施是救治成功的关键。     

一例接种乙肝疫苗疑似异常反应死亡病例分析

目的分析预防接种后发生死亡病例的原因,总结预防接种工作经验。方法根据现场调查、患儿发病和死亡的表现及尸检报告进行综合分析。结果患儿按免疫规划要求接受乙肝疫苗第2针次和卡介苗接种,接种过程符合要求。患儿病变突然,死亡急速。尸检:颅内出血和脑水肿致脑疝形成、胸腺肥大和胸腺出血。结论死者被排除由于疫苗质量和接种操作不当引起死亡,分析可能由于接种疫苗后诱发婴儿晚发性维生素K缺乏症并颅内出血死亡。     

海南省某医院337例NICU患儿串联质谱结果分析

目的探讨串联质谱法对NICU酸碱失衡住院患儿的检测价值,为NICU酸碱失衡患儿遗传代谢病的诊治提供依据。方法采用串联质谱技术,使用PE公司生产的非衍生化多种氨基酸、肉碱和琥珀酰丙酮测定试剂盒(串联质谱法)对海南省妇幼保健院新生儿科337例住院患儿展开氨基酸谱与肉碱谱分析,血串联质谱异常者送血样本至北京迈基诺基因公司做基因诊断,送尿样本至广州金域检验做尿气相质谱验证。结果337例住院患儿中血串联质谱检测到指标异常44例,其中疑似氨基酸血症12例,疑似有机酸血症18例,疑似脂肪酸血症14例,初筛IEM的患病率为13.1%(44/337)。目前已确诊1例同型半胱氨酸血症、2例苯丙酮尿症、1例高苯丙氨酸血症、1例甲基丙二酸血症、1例戊二酸血症I型、1例全羟化酶合成酶缺乏症、2例原发肉碱缺乏症。结论用串联质谱技术可以分析患儿的氨基酸谱与肉碱谱,为NICU酸碱失衡患儿遗传代谢病的诊治提供了依据。     

因疫苗免疫程序与药典规定相矛盾引发的一起预防接种纠纷的调查分析

目的分析衡阳县某镇一起预防接种纠纷发生的原因。方法采用现场调查和查阅资料等方法,分析2013年衡阳县某镇一起预防接种纠纷发生的可能原因。结果患儿因接种乙型脑炎、麻疹风疹减毒活疫苗后出现发热,相继呕吐、抽搐,经医院诊断为化脓性脑膜炎;患儿监护人认为镇卫生院接种医生未按照疫苗使用说明书进行操作,造成对患儿伤害;经县预防接种异常反应调查诊断专家组调查诊断为预防接种后偶合发病,排除疫苗接种事故、预防接种异常反应(AEFI)。结论疫苗使用说明与]扩大国家免疫规划疫苗免疫程序的矛盾引发预防接种纠纷,应保证中国药典生物制品使用说明与疫苗使用的免疫程序的一致性。     

b型流感嗜血杆菌结合疫苗致脑萎缩病例报告

[目的]对接种某种b型流感嗜血杆菌结合疫苗后发生脑萎缩的个案进行分析,结合该个案提出对避免预防接种异常反应工作提出建议。[方法]个案分析。[结果]患儿的脑萎缩是接种疫苗后发生抽搐、发热、意识障碍等症状产生的后遗症。[结论]预防接种工作人员在接种疫苗时须加强安全意识,避免异常反应的发生。     

接种麻腮风疫苗引起异常反应1例分析

目的分析发生预防接种异常反应的病因,及时有效处置此类反应。方法根据现场调查、患儿发病和治疗效果进行综合分析。结果患儿按＂2010年仙游县麻疹疫苗强化免疫实施方案＂要求接受麻腮风疫苗接种,接种过程和疫苗质量符合要求。患儿接种麻腮风疫苗3d后出现红色皮疹或水疱疹,波及面部、颈部、躯干及四肢,伴大面积剥脱性皮炎。结论患儿确诊为接种麻腮风疫苗引起的过敏反应。预防接种强调充分告知,家长应了解预防接种不良反应的一些常识,接诊患儿时务必询问预防接种史。     

茂名地区120773名新生儿疾病筛查及研究

目的:了解茂名地区新生儿疾病筛查和发病情况,统筹茂名地区新生儿G6PD缺乏症、PKU及CH患儿的追踪、预防和治疗工作,探讨茂名地区实施新生儿遗传代谢缺陷病的控制作用。方法:收集茂名地区出生满72h并喂足8次奶后的新生儿采集的滤纸干血斑标本,采用荧光斑点法检测G6PD活性筛查G6PD缺乏症,荧光酶联免疫法检测促甲状腺激素(TSH)筛查CH,荧光分析法检测苯丙氨酸(Phe)筛查PKU。结果:采血筛查新生儿120 773例,确诊CH患儿91例,G6PD缺乏症8 741例,苯丙酮尿症(PKU)1例。医院覆盖率71.53%以上,筛查率42.66%以上。结论:新生儿疾病筛查使缺陷儿智能发育和体格发育基本正常,实现了控制遗传代谢缺陷病的三级预防目标。加强新生儿疾病筛查工作是减少出生缺陷、提高出生人口素质的重要措施,为提高我国人口素质具有重要的意义。     

多学科专家论证川崎病儿童预防接种模式应用

目的 解决基层接种医生对患有川崎病儿童的预防接种难题。方法 采用组织临床儿科、流行病学、疫苗学等相关领域专家对川崎病儿童进行论证,形成川崎病预防接种共识建议,对符合接种建议患儿进行接种前告知,获得监护人同意后接种疫苗,进行接种疫苗后的安全性观察。结果 形成川崎病儿童的预防接种专家共识建议,分别对未发生并发症的川崎病患儿、发生并发症的患儿以及复发的川崎病患儿接种进行建议,已指导6名川崎病儿童进行疫苗接种,均未发生不良反应。结论 采用组织专家对川崎病儿童论证形成预防接种共识建议的方法,指导接种医生对患病儿童接种疫苗,可以提高该群体儿童接种率,确保接种安全,其方法安全可行。     

甲基丙二酸血症的临床特点及基因型与临床表型关系的探讨

目的 探讨甲基丙二酸血症的临床特征,治疗前后血氨基酸、尿有机酸的变化及基因型与临床表型的关系。方法 对中国医科大学附属盛京医院发育儿科2011年8月-2012年12月10例确诊的甲基丙二酸血症患儿的临床资料,血氨基酸、尿有机酸及基因结果进行分析。结果 10例患儿的发病年龄为出生5 d~2岁5月,主要临床表现包括喂养困难2例,体重不增1例,反复呕吐2例,顽固性抽搐1例,发育落后3例,发育倒退1例,肌张力异常3例。代谢性酸中毒3例,血氨增高7例,伴同型半胱氨酸增高6例。头部MRI典型改变3例,非特异性改变4例。VitB12 有效型尿MMA平均下降倍率为6.45倍,血丙酰肉碱(C3)为2.05倍,血丙酰肉碱/乙酰肉碱(C3/C2)为1.64倍。4例患儿检测到相关基因突变,基因分型3例为cblC亚型,1例为mut-亚型。 结论 甲基丙二酸血症除了表现为非特异性临床特征以外,易发生代谢性酸中毒、高氨血症和同型半胱氨酸血症;头部MRI既可以为典型改变也可以为非特异性改变;尿MMA可作为VitB12治疗有效的敏感指标;基因检测可进一步帮助临床分型、估计预后及产前诊断。     

接种麻疹减毒活疫苗引起过敏性紫癜1例的报告

在麻疹疫苗强化免疫期间,某疾控中心接到辖区内医院电话,一名儿童在接种麻疹疫苗5 d后出现过敏反应.接到报告后,疾控中心派专业人员进行了相关调查,分别从患儿接种预防接种门诊和就诊医院获得详实资料,在与患儿家长沟通的基础上.组织专家对患儿进行了预防接种异常反应诊断.     

智力低下患儿氨基酸有机酸代谢异常的筛查与诊断的初步研究

探讨智力低下患儿氨基酸,有机酸代谢异常的筛查,诊断和治疗方法。「方法」以２３７６例原因不明的智力低下,惊厥,呕吐、代谢性酸中毒,意识障碍等来院就医的患儿为对象,通过临床调查,实验室检查进行筛查与诊断,根据病种分别给予治疗。「结果」共４２５例患儿得以确诊,其中氨基酸代谢异常３８４例,有机酸血症４１例。３２０例患确诊后开始治疗,临床症状明显改善。「结论」氨基酸,有机酸代谢异常多以神经系统损害为主,早欺     

The metabolic response to rapid intravenous glucose injection in acute falciparum malaria

Because hypoglycaemia is common in severe malaria, intravenous glucose is often given empirically to patients on admission to hospital. To investigate the metabolic response to rapid glucose injection in acute malaria, 50 ml of 50% w/v (25 g) dextrose was given over 5 min to 10 adult patients (7 males, 3 females; mean age 30 years) with acute falciparum malaria. Five patients with severe infections were studied between doses of intravenous quinine; 5 cases were uncomplicated and previously untreated. The patients with severe malaria had lower pre-injection plasma glucose concentrations than patients with uncomplicated infections (mean +/- standard deviation, 4.2 +/- 0.9 vs 5.8 +/- 1.1 mmol/litre, 2P less than 0.015). However, peak glucose concentrations (18.6 +/- 4.8 vs 17.0 +/- 2.4 mmol/litre) and integrated responses (AUC0-245 min) were similar in the groups (2P greater than 0.1 in each case), and pre- and post-injection plasma insulin concentrations and AUC0-245 min values were also not significantly different (2P greater than 0.05 in each case). No 'rebound' hypoglycaemia was observed. The patients with severe malaria had higher peak plasma lactate concentrations than the uncomplicated patients (2.5 +/- 0.7 vs 1.5 +/- 0.9 mmol/litre, 2P less than 0.05), but the highest plasma lactate achieved and the greatest maximum post-injection rise were only 3.8 and 0.8 mmol/litre respectively. The average maximum reduction in plasma potassium after injection was 0.2 mmol/litre at 35 min. These data suggest that injections of hypertonic dextrose given empirically in conventional doses to non-acidotic patients with acute, severe malaria are not harmful, but the metabolic response in patients with an established acidosis remains unknown.     

The first rapid onset optic neuritis after measles-rubella vaccination: case report

During the largest mass campaign for measles-rubella (MR) vaccination 33,000,000 people with an age range of 5-25 years were vaccinated in Iran. Some complications were encountered, including a rare case of optic neuritis. In the past 30 years of medical literature, five cases of optic neuritis have been reported but all of them were developed at least 8 days after vaccination. We are supposed to report the first case of rapid onset optic neuritis in which the complication came out just in few hours in a 16 years old boy.     

ALCOHOL INTOXICATION IN CHILDHOOD AND ADOLESCENCE

Coma and vomiting are the commonest symptoms in young teenagersintoxicated by alcohol. Severe toxicity, manifested as coma,occurs at lower blood alcohol concentrations in young teenagersthan in adults. The effect of ethanol on the state of consciousnessis directly proportional to blood alcohol concentration. Amongchildren under 5 years of age the risk of hypoglycaemia is increased.A significant risk in acute alcohol intoxication is the rapiddevelopment of coma, which in cold environments could lead tofatal hypothermia. Preschool-age children are reported to eliminateethanol twice as fast as adults, whereas young teenagers eliminateit at the adult rate. The biochemical disturbances in children11 to 16 years of age with alcohol intoxication resemble thoseof adults. Mild acidosis of a respiratory or metabolic originand mild hypokalaemia are common findings in young teenagers.Fluid replacement with glucose-containing fluids and follow-upare generally the only treatments needed for complete recovery.Motives leading to alcohol intoxication are a wish to get drunk,experimenting, problems in human relations, and attempted suicide.The underlying problems are often family-related. such as divorce,an alcoholic parent and a lower socioeconomic group.     

手足口病疫苗接种年龄区间的流行病学探讨简

[目的]评估手足口病疫苗的接种年龄区间。[方法]以宁波市鄞州区2010_2012年手足口痛疫情资料为模型,分析手足口病的年龄分布特征,以及手足口病重症与死亡病例的年龄分布特征,采用Logistic回归法计算0-11月龄病例各年龄段发病的相对风险值。[结果]95．66％的病例分布在0～5周岁。各年龄段病例在同年龄段人口中的平均发病率：0。4周岁为44．57‰,5周岁为9．79‰,6周岁为6．84‰,7周岁后则不超过3.00‰。重症及死亡病例的平均年龄为22月龄。0,11月龄发病风险随年龄增长而增加,10～11月龄开始发病风险剧增。[结论]手足口病疫苗起始接种年龄应为6-10月龄内,适宜人群应为6月龄～5周岁儿童,6周岁后人群接种疫苗意义不大。     

Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases

Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it is profound during the first life decade. A severe selective reduction of carbonic anhydrase II in erythrocyte is confirmed in 18 cases. Osteosclerosis and defective skeletal modelling are constant, cerebral calcification can be seen at the scanner approximately at the age of two years and six months. All patients are homozygous for a splice junction mutation in intron 2 of the carbonic anhydrase II gene, this mutation does not seem to protect patients from bone fractures nor induce a severe metabolic acidosis.     

Changes in serum leptin levels in chronic renal failure patients with metabolic acidosis.

OBJECTIVE: To examine the relationship between serum leptin levels (SLL) and metabolic acidosis in patients with chronic renal failure (CRF). DESIGN: SLL in control patients and in predialysis patients with CRF were measured and compared. SLL before and after correction of acidosis in patients with CRF were also compared. Patients and Controls: Twenty-five patients with CRF (10 men and 15 women) aged 51.2 +/- 10.4 years and control patients (healthy subjects, 23 men and 25 women) aged 42.1 +/- 12.6 years were studied. INTERVENTION: Five percent sodium bicarbonate (NaHCO(3), 2 to 3 mL/kg) was intravenously infused on the morning of the first day of treatment. NaHCO(3) was taken orally at a dosage of 50 to 200 mg/kg/d for 3 to 5 days thereafter. Main Outcome Measure: SLL before and after NaHCO(3) treatment was measured by radioimmunoassay, and blood gas was measured before and after correction of metabolic acidosis in patients with CRF. RESULTS: SLL in the normal control group (n = 48) was 10.04 +/- 7.0 ng/mL and was realated to body mass index (BMI) (P =.0331). SLL in men (n = 23) was lower than that in female controls (n = 25, P <.01). SLL in patients with CRF (n = 25) before (plasma HCO(3)(-), 13.03 +/- 3.05 mmol/L) and immediately after improvement of metabolic acidosis (plasma HCO(3)(-), 18.35 +/- 4.21 mmol/L) was 14.52 +/- 9.27 ng/mL and 15.34 +/- 11.89 ng/mL (P >.05), respectively. SLL measured 3 to 5 days after treatment for metabolic acidosis (plasma HCO(3)(-), 20.46 +/- 4.03 mmol/L) was 19.33 +/- 14.58 ng/mL, which was significantly higher than that in the normal control group and that in acidotic patients before NaHCO(3) treatment (P <.01). CONCLUSIONS: SLL in acidotic patients with CRF were comparable to that in control subjects, and SLL was significantly increased after correction of metabolic acidosis in patients with CRF. The preliminary results suggest that hyperleptinemia in patients with CRF may be masked by metabolic acidosis and that metabolic acidosis may inhibit leptin synthesis or secretion. Further studies are needed to clarify the mechanisms.     

240例肺炎患儿酸碱失衡的临床分析

目的探讨轻、重症肺炎患儿酸碱失衡的特点。方法近5年在本院住院治疗的轻症肺炎患儿128例（轻症肺炎组），重症肺炎患儿112例（重症肺炎组）。对其取手指动脉化毛细血管血进行血气分析。结果重症肺炎组中，年龄为1～6个月的患儿占75．0％，轻症肺炎组中占49．2％，而其中小于3个月的患儿为多数。重症肺炎患儿的酸碱失衡类型以呼吸性酸中毒（呼酸）和混合性呼酸[呼酸＋代谢性酸中毒（代酸）和呼酸＋代谢性碱中毒（代碱）]多见（79．8％），代酸和混合性代酸（呼酸＋代酸和呼碱＋代酸）也较常见。轻症肺炎患儿的酸碱失衡类型也为呼酸和混合性呼酸最多见（64．8％），但代酸和混合性代酸少见，呼碱和混合性呼碱增加。由于肺炎患儿的PaCO2。经常存在原发性变化，故呼吸功能未明显改善之前，单纯性代酸和单纯性代碱少见。部分重症肺炎患儿无酸碱失衡。结论患儿的年龄越小，感染时越容易累及下呼吸道而导致肺炎，且呈重症者较多。小婴儿患肺炎时，更容易产生呼吸道狭窄，导致肺通气减少，因此呼酸多见。病情越重，越容易发生代酸。重症肺炎患儿无酸碱失衡时，并不表示病情不严重。     

育龄期21-羟化酶缺乏症误诊为多囊卵巢综合征二例并文献复习

21-羟化酶缺乏症（21-hydroxylase deficiency,21-OHD）是先天性肾上腺皮质增生症最常见的一种,部分21-OHD患者的临床症状不典型,容易漏诊、误诊。报道2例因月经紊乱、不孕及高雄激素血症就诊而误诊为多囊卵巢综合征（polycystic ovary syndrome,PCOS）的21-OHD患者的临床资料,基因测序显示1例携带c.374G>A（p.Arg125His）和c.518T>A（p.Ile173Asn）杂合错义突变,明确了突变基因来自患者父母;另1例携带c.518T>A（p.Ile173Asn）纯合错义突变,因亲属未检测故未明确突变来源。给予地塞米松口服治疗,2例患者均恢复规律月经,高雄激素血症临床症状得到改善,其中1例成功妊娠并分娩。育龄期女性如以不孕、高雄激素血症表现就诊,诊断为PCOS而治疗效果不佳时,应考虑21-OHD,进一步行17-羟孕酮测定、促肾上腺皮质激素兴奋试验和基因突变检测可明确诊断。