2000-2008年河北省新生儿苯丙酮尿症筛查结果分析

目的 分析河北省新生儿苯丙酮尿症(PKU)筛查状况、PKU发病率及治疗情况,总结经验,促进新生儿筛查工作.方法 以2000年1月-2008年9月在河北省11所市新生儿疾病筛查中心(新筛中心)进行PKU筛查的218万例新生儿作为分析对象,在出生后72 h采足跟血,分别采用细菌抑制法(BIA)、荧光法、定量酶法测定血苯丙氨酸(phe)水平.结果 218万例新生儿中,确诊PKU 249例,发病率为1:8 757,其中男婴145例,女婴104例,男女之比约为1.39:1,各年度的发病率比较差异无统计学意义(P＞0.05),各市的发病率比较差异有统计学意义(P＜0.05).确诊的138例PKU患儿接受正规治疗,治疗率为55.4%.结论 河北省是PKU高发区,新生儿疾病筛查是早发现、早诊断、早治疗PKU的重要措施,在今后的工作中要大力提高治疗率,使PKU患儿的智力和体格发育达到正常标准,减少残疾的发生,提高人口素质.     

Aspects of treatment of homocystinuria: an illustrative case report

Cystathionine beta synthase deficiency homocystinuria is a heritable disorder most common in those of Irish descent. Therapy may prevent intellectual deficiency and dislocation of the ocular lenses. A female with this condition treated from the neonatal period to late adolescence is reported, including the use of betaine and antithrombotic drugs in management.     

小儿先天性巨小肠症手术治疗

目的探讨小儿先天性巨小肠症各种根治术式的优缺点。方法对14例疑似先天性巨小肠症小儿进行钡剂灌肠及吸吮法直肠黏膜活检术;分别采用Soave,Duhamel及Martin巨结肠根治术式进行治疗,并对手术后小儿恢复情况进行了1～3年的随访。结果钡灌肠显示全结肠狭窄,短缩;直肠活检显示狭窄段黏膜层神经丛神经节细胞完全缺如;Soave手术：2例新生儿术后前6个月腹泻污粪,6个月后基本恢复正常;Duhamel手术：1例新生儿术后6天死亡;Martin手术：6例恢复正常;2例间断性腹泻,无便秘;2例仍有轻度腹胀,便秘。结论新生儿期发病,急诊手术最好采用小肠造瘘术,待二期行Martin手术;新生儿期根治术可采用Soave手术;婴幼儿期根治术可采用Martin手术。     

Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria

AIMS: Large oral doses of betaine have proved effective in lowering plasma homocysteine in severe hyperhomocysteinaemia. The pharmacokinetic characteristics and metabolism of betaine in humans have not been assessed and drug monitoring for betaine therapy is not available. We studied the pharmacokinetics of betaine and its metabolite dimethylglycine (DMG) in healthy subjects and in three patients with homocystinuria. METHODS: Twelve male volunteers underwent an open-label study. After one single administration of 50 mg betaine kg-1 body weight and during continuous intake of twice daily 50 mg kg-1 body weight, serial blood samples and 24 h urines were collected to determine betaine and DMG plasma concentrations and urinary excretion, respectively. Patients were evaluated after one single dose of betaine. RESULTS: We found rapid absorption (t(1/2),abs 00.28 h, s.d. 0.17) and distribution (t(1/2), lambda1 00.59 h, s.d. 0.22) of betaine. A Cmax of 0.94 mmol l-1 (s.d. 0.19) was reached after tmax 00.90 h (s.d. 0.33). The elimination half life t(1/2), z was 14.38 h (s.d. 7.17). After repeated dosage, t(1/2), lambda1 (01.77 h, s.d. 0.75) and t(1/2), z (41.17 h, s.d. 13.50) increased significantly (95% CI 0.73, 01.64 h and 19.90, 33.70 h, respectively), whereas absorption remained unchanged. DMG concentrations increased significantly after betaine administration and accumulation occurred to the same extent as with betaine. Renal clearance was low and urinary excretion of betaine was equivalent to 4% of the ingested dose. Distribution and elimination kinetics in homocystinuric patients appeared to be accelerated. CONCLUSIONS: Betaine plasma concentrations change rapidly after ingestion. Elimination half-life increased during continuous dosing over 5 days. Betaine is mainly eliminated by metabolism. More pharmacokinetic and pharmacodynamic studies in hyperhomocysteinaemic patients are needed to refine the current treatment with betaine.     

早期干预对新生儿惊厥的影响

将6年住院新生儿811例分为干预组425例和对照组326例。干预组采用早期综合干预措施,其惊厥发生率较对照组显著下降(P<0.01)。早产儿惊厥发生率明显高于足月儿(P<0.01)。低于胎龄儿惊厥发生率最高,其次为高于胎龄儿,适于胎龄儿最低,三者之间有显著差异(P<0.05)。结果显示早期干预可降低新生儿惊厥发生率。     

新生儿硬肿症的护理体会

目的探讨新生儿硬肿症的观察和护理。方法对26例新生儿硬肿症患儿根据引起本病的危险因素、临床表现及新生儿复温、吸氧、合理喂养等护理进行回顾性分析。结果入院后经保暖、补液、吸氧、抗感染及对症支持治疗和精心护理。26例完全治愈,出院时患儿神志清晰、反应灵活、哺乳良好、面色红润,体温稳定在36.2~37.2℃,硬肿消退,无并发症发生。结论指导家属注意保暖,注意硬肿症的早期表现,一旦发现及早治疗,可以取得满意的效果。     

新生儿高胆红素血症的临床研究

目的　探讨新生儿高胆红素血症的临床表现、发病因素和防止并发症 ,降低致残率。方法　对 99例新生儿高胆红血症患儿临床及实验室资料进行回顾性分析。结果　 99例新生儿黄疸经光疗等综合治疗除 4例放弃治疗和死亡外 ,其余均痊愈出院。结论　新生儿高胆红素血症病因复杂 ,致残率高 ,应重视予防 ,加强围产保健 ,防止感染和核黄疸发生 ,措施可行。     

新生儿高胆红素血症的临床研究

目的：探讨新生儿高胆红素血症的临床病因、程度、临床表现、早期干预及预后等，防止并发症，降低致残率。方法：对198例新生儿高胆红素血症患儿临床及实验室资料进行分析。结果：围产因素66例，母乳性黄疸46例，细菌感染37例，新生儿溶血症14例，新生儿红细胞增多症32例，肝炎综合症2例，先天性胆道阻塞l例；黄疸程度与病因有关，不同病因与治疗所需时间有所不同；除死亡2例和放弃治疗6例，其余患儿均痊愈出院。结论：该病是新生儿期常见且危害较大的疾病，病因复杂，致残率较高，重视预防，加强围产保健，防止感染，尤其对高危儿及早加强监测，实施早期干预，防止核黄疸发生，措施可行，在基层医院有较高的推广价值。     

危重外科新生儿转运

目的探讨危重新生儿外科疾病的转运模式。方法成立转运中心,设24h专线电话,在接到转运电话后由新生儿外科医护人员各1—2名,乘新生儿专用转运救护车前往接诊,实施现场急救、途中救护及院内治疗。结果772例危重新生儿外科疾病患儿转运至本院NICU,转运成功率为98％;全部转诊病人中,646例得到治疗,治愈599例,治愈率为93％,放弃治疗126例,死亡47例,占总转运人数22％。结论新生儿外科转运有利于降低围产儿、新生儿死亡率及后遗症的发生率,转运途中监护与急救、稳定患儿病情是危重新生儿外科疾病患儿转运成功的保证。     

早产儿发病因素临床研究

目的　探讨早产儿的发病因素及围保健期的重要意义。方法　对 1998年 8月～ 2 0 0 2年 8月共分娩活婴 112 5 6例中的早产儿 2 0 2例进行回顾性分析。结果　分娩 112 5 6例活婴中 ,死亡 42例 ,死亡率为 0 37% ;早产儿 2 0 2例中 ,死亡 2 2例 ,死亡率 10 89%。结论　早产儿的死亡率明显高于正常出生儿     

Current and Future Treatments for Persistent Pulmonary Hypertension in the Newborn

Persistent pulmonary hypertension in newborn (PPHN) is a serious and possibly fatal syndrome characterized by sustained foetal elevation of pulmonary vascular resistance at birth. PPHN may manifest secondary to other conditions as meconium aspiration syndrome, infection and congenital diaphragmatic hernia. This MiniReview provides the reader with an overview of current and future treatment options for patients with PPHN without congenital diaphragmatic hernia. The study is based on systematic searches in the databases PubMed and Cochrane Library and registered studies on Clinicaltrials.gov investigating PPHN. Inhaled nitric oxide (iNO) is well documented for treatment of PPHN, but 30% fail to respond to iNO. Other current treatment options could be sildenafil, milrinone, prostaglandin analogues and bosentan. There are several ongoing trials with sildenafil, but evidence is lacking for the other treatments and/or for the combination with iNO. Currently, there is no evidence for effect in PPHN of other treatments, for example tadalafil, macitentan, ambrisentan, riociguat and selexipag used for pulmonary arterial hypertension in adults. Experimental studies in animal models for PPHN suggest effect of a series of approaches including recombinant human superoxide dismutase, L‐citrulline, Rho‐kinase inhibitors and peroxisome proliferator‐activated receptor‐γ agonists. We conclude that iNO is the most investigated and the only approved pulmonary vasodilator for infants with PPHN. In the iNO non‐responders, sildenafil currently seems to be the best alternative either alone or in combination with iNO. Systematic and larger clinical studies are required for testing the other potential treatments of PPHN.     

新生儿心肌炎70例临床及治疗分析

目的:分析新生儿心肌炎临床表现和治疗,提高对该病的认识,降低病死率.方法:回顾性分析在我院住院的新生儿心肌炎70例的临床症状、体征以及诊治经过.结果:本组患儿临床表现多样,早期以非特异性表现为主;心电图表现多种形式异常,以房室传导阻滞(AVB)最多见(64例,占91.4%),胸片示心影增大有53例(占75.7%),70例惠儿50.0%有心肌酶谱异常,血清病毒抗体(IgM)检测阳性46例(占65.7%).经积极抢救和综合治疗,44例(62.8%)痊愈出院,17例(24.3%)好转,7例10.0%死亡.结论:新生儿心肌炎临床表现不典型,其病因以病毒感染多见,早期诊断和积极合理治疗,大部分新生儿心肌炎预后艮好.     

新生儿颅内出血的CT诊断

目的提高对新生儿颅内出血的CT表现的认识和诊断水平。方法对70例颅内出血的CT表现作回顾性分析、研究。结果蛛网膜下腔出血56例,占80%;脑实质内出血4例,占5.7%;脑室出血3例,硬膜下血肿2例,占2.8%。①蛛网膜下腔出血是最常见类型,多合并缺氧缺血性脑病,生产过程多有轻至中度窒息史;②脑内出血多合并重度窒息史;③脑室内出血多在脑室后角形成血-脑脊液平面;④硬膜下血肿合并皮下血肿,并有产伤史。结论新生儿颅内出血的CT表现具有一定的特征性,常规的颅脑CT检查有利于颅内出血的早期发现与诊断,对临床治疗及推测愈后有一定的价值。     

新生儿哭闹临床观察及护理

目的探讨新生儿哭闹的临床观察及护理。方法选取本科新生儿共160例,观察全部新生儿的哭声特点并分析其哭闹的原因。所有新生儿随机分为护理组与对照组各80例,其中护理组采取精心护理干预措施,而对照组采用常规的护理方法。结果新生儿哭声响亮婉转最多,达92例(57.50%),其次为惊哭21例(13.13%);新生儿由于饥饿、寒冷引起的哭闹最多,分别达33例(20.63%)和32例(20.00%),其次为肠痉挛和缺氧缺血性脑病,分别为29例(18.13%)和21例(13.13%);两组新生儿经护理干预后,护理组患儿哭闹情况明显减少,与对照组患儿比较差异具有统计学意义(P<0.05)。结论在临床上鉴别新生儿生理性哭闹与病理性哭闹十分重要,是新生儿查房时防止漏诊误诊的关键;给予护理干预可有效减少新生儿哭闹,在临床上值得推广应用。     

新生儿听力筛查的临床分析

目的通过对新生儿进行听力筛查,使其达到早期发现、早期诊断、早期干预、早期治疗和即时康复的目的 ,保护和增进新生儿童的健康。方法对2010年在我院生产的2123例活产新生儿在出生24～72h进行听力筛查。结果 2013例通过,占94.81%;110例未通过者,占5.18%。结论对新生儿进行听力筛查,可以早期发现听力障碍,及早干预,减少聋哑人口,控制致残率,提高人口素质。     

Virtual screening for kinase targets

Kinases have become a major area of drug discovery and structure-based design. Hundreds of 3D structures for more than thirty different kinases are available to the public. High structural and sequence homology within the kinase gene family makes the remaining kinases ideal targets for homology modeling and virtual screening. Somewhat surprisingly, however, the number of publications about virtual screening of kinases is very low. Therefore, rather than reviewing the field of virtual screening for kinases, we attempt here a hybrid approach of presenting what is known and common practice together with new studies on CDK2 and SRC kinase. To illustrate the challenges and pitfalls of virtual screening for kinase targets we focus on the question of how ranking is influenced by the database screened, the docking scheme, the scoring function, the activity of the compounds used for testing, and small changes in the binding pocket. In addition, a case study of finding irreversible inhibitors of ErbB2 through in silico screening is presented.     

Statistical tools for virtual screening

In large-scale virtual screening (VS) campaigns, data are often computed for millions of compounds to identify leads, but there remains the task of prioritizing VS "hits" for experimental assays and the dilemma of assessing true/false positives. We present two statistical methods for mining large databases: (1) a general scoring metric based on the VS signal-to-noise level within a compound neighborhood; (2) a neighborhood-based sampling strategy for reducing database size, in lieu of property-based filters.