Multisynostotic osteodysgenesis

A sporadic case of multisynostotic osteodysgenesis is reported in a 15-day-old female infant with urogenital abnormalities. The main radiological findings were craniosynostosis, radiohumeral synostosis, femoral bowing and fractures. The typical combination of clinical and radiologic findings allow the ready recognition of this syndrome. Seven earlier cases have been reported, five sporadic and one familial; in two sisters.     

Imaging modalities of craniosynostosis with surgical and pathological correlation

Premature fusion of the sutures of the skull has been extensively analyzed and several diagnostic imaging modalities have been proposed. Radiographic, scintigraphic and computed tomographic features of craniosynostosis have been reported. This study was initiated (a) to determine the value and accuracy of plain skull radiography, skull scintigraphy and cranial CT; and (b) to determine the optimal imaging modality for the evaluation of a clinically suspected craniosynostosis. The study is based on 36 patients with clinical suspicion of craniosynostosis who underwent craniectomy and cranioplasty. One hundred and three sutures were pathologically and/or surgically evaluated. The overall accuracy rate for skull radiography was 89%, skull scintigraphy, 66%, and cranial CT, 94%. Routine skull series are adequate in the majority of cases of craniosynostosis. Skull scintigraphy is less accurate, more costly, and has a limited role in the evaluation of craniosynostosis. Cranial CT should be reserved for those cases in which the findings in the routine skull series are not clearly positive or negative, or in cases of more complex cranofacial anomalies.     

磁共振成像对新生儿缺氧缺血性脑病预后的早期评估

目的：了解足月新生儿缺氧缺血性脑病（HIE）的临床特点,探讨头颅磁共振成像对HIE预后的早期评估价值。方法：对近5年收治的348例足月新生儿HIE的临床资料进行回顾性分析,包括病史、临床表现、磁共振检查及随访结果等。结果：足月新生儿HIE占同期收治新生儿总数的8.25%,76.2%患儿由出生时窒息引起,其中轻度窒息占59.2%,重度窒息占40.8%。总的预后不良率为10.1%,其中重度脑病的预后不良率27.3%, 中度为10.0%, 轻度为1.5%。磁共振表现为弥漫性脑实质出血与脑梗死、基底节与内囊损伤、细胞毒性脑水肿时重度、中度、轻度脑病患儿的预后不良率分别是100%, 87.5%, 81.8%。结论：HIE仍是新生儿常见疾病,可导致死亡或遗留伤残;其中轻度窒息所占比例大,应引起重视。磁共振成像对预后具有早期判断价值,当出现弥漫性脑实质出血与脑梗死、基底节与内囊损伤、细胞毒性脑水肿时预后可能不良,尤其当两种或以上异常同时存在时。［中国当代儿科杂志,2007,9（5）：407-410］     

高压氧治疗新生儿缺氧缺血性脑病的机制及存在问题

文章阐述了高压氧(HBO)治疗新生儿缺氧缺血性脑病(HIE)主要机制、国内外实验研究和临床研究的主要结果.大多数动物实验和临床观察报道HBO治疗新生儿HIE有效,且未见不良反应.HBO与高浓度氧不同,高浓度氧可导致早产儿视网膜病(ROP)和支气管肺发育不良(BPD),而HBO在常规治疗条件下不会引起ROP和BPD.但必须指出的是,至今国内有关HBO治疗新生儿HIE的文章质量欠佳,需要多中心合作的临床研究结果.     

新生儿缺氧缺血性脑病脑电图背景活动及血清神经元特异性烯醇化酶变化与临床意义

目的：新生儿期最常见的脑损伤疾病为新生儿重度窒息所致的缺氧缺血性脑病(HIE),可遗留神经系统后遗症。该研究通过检测新生儿HIE患儿脑电图（EEG）和血清神经元特异性烯醇化酶（NSE）,研究新生儿HIE脑电图背景活动及NSE的变化。探讨它们对HIE患儿病情进展、病情程度、预后判断的价值。方法：选择符合新生儿HIE诊断标准的病例58例,分轻度HIE组和中重度HIE组,同期选择产科健康新生儿30例为对照组;各组在生后12~24 h、7~10 d抽血行血清NSE检测;HIE组在生后24 h至8 d内（早期）、28~30 d（恢复期）行脑电图检查;同等条件与时间检测健康对照组脑电图,并对HIE患儿进行随访。结果：HIE组早期脑电图异常率 94.8%(55/58)显著高于健康对照组6.7%(2/30),差异有显著性意义（P<0.01）,中重度HIE组早期脑电图背景活动异常率90.0%(18/20)显著高于轻度HIE组5.2%(2/38),（P<0.01）,早期脑电图背景活动异常患儿预后不良率达 72.2％（13/18）,HIE组生后12~24 h血清NSE明显高于健康对照组,差异有统计学意义（P<0.01）,早期脑电图背景活动异常和生后12~24 h NSE显著升高与HIE患儿病情分度呈正相关,恢复期患儿脑电图背景活动异常者,绝大多数有神经系统后遗症,发生率达87.5%（7/8）。结论：脑电图背景活动和NSE可作为HIE患儿病情判断、临床分度和预后评估有力的依据。［中国当代儿科杂志,2009,11（3）：173-176］     

Craniosynostosis associated with neural tube defects: is there a causal association?

The majority of primary craniosynostosis cases are sporadic. Very few articles in the literature have described cases of primary craniosynostosis associated with neural tube defects (NTDs). This co-occurrence has been seen by most authors as just a coincidence. The authors report a clinical series of 4 patients of primary craniosynostosis associated with NTDs treated at their center. Among these 4 cases, 2 had lumbosacral myelomeningocele, 1 frontoethmoidal encephalocele and 1 had occipital encephalocele. Although the co-occurrence of craniosynostosis and NTD is said to be rare, there seems to exist a justified underlying explanation for the same. The NTD causes a decrease in intracranial pressure due to egress of cerebrospinal fluid in the malformed sac that results in a deficient cerebral impulse for cranial growth that might stimulate premature sutural fusion. Thus, all patients with NTDs should be thoroughly evaluated for this association and for possible surgical management.     

Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients

BACKGROUND: Crouzon syndrome is an autosomal dominant disorder causing premature fusion of the cranial suture. Mutations have been reported in exon IIIa or IIIc of the fibroblast growth factor receptor 2 (FGFR2) gene. METHODS: In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing. RESULTS: Mutations were detected in 67% (6/9) of all cases. More than half the studied Crouzon patients carried a mutation resulting in either the loss or gain of a cysteine residue. A novel mutation, Tyr281Cys substitution, was discovered at exon IIIa. CONCLUSIONS: The mechanisms by which the same genotypes cause different phenotypes for each type of craniosynostosis syndrome in still uncertain. However, the molecular identification of the FGFR gene has made a great impact on the clinical classification of craniosynostosis syndromes; a new classification based on genotypes seems to be unavoidable.     

新生儿缺氧缺血性脑病磁共振影像学评分与临床分度的相关性研究

目的 探讨新生儿缺氧缺血性脑病（HIE）磁共振成像（MRI）影像学评分与临床分度的相关性。方法 依据HIE临床分度标准对61例HIE患儿进行分度,应用改良的MRI评分系统进行不同MRI序列的损伤评分,分析HIE影像学评分与临床严重程度之间的关系。结果 中度HIE的MRI影像学评分低于重度HIE,差异有统计学意义（P < 0.01）;0~7 d新生儿的MRI弥散加权成像（DWI）评分与MRI综合评分的相关系数最高（r > 0.9）;>7 d新生儿的MRI T1加权成像评分与MRI综合评分的相关系数最高（r=0.963）;重度HIE脑损伤的头部MRI表现主要以基底节/丘脑+脑干和全脑型损伤为主,而中度HIE以分水岭损伤为主、脑干很少受累,差异有统计学意义（P < 0.01）。结论 MRI影像学评分系统与HIE临床分度之间有较好的相关性,可协助HIE临床诊断及分度。     

Evaluation and management of nonsyndromic craniosynostosis

Craniosynostosis (craniostenosis) is premature fusion of the sutures of the cranial vault. Several factors can affect the growth of the cranial vault during embryonic life and after birth, leading to different types of craniosynostosis; these can be classified on the basis of the specific sutures that are fused. Prognosis is improved by early diagnosis, and it is important to establish the correct approach to these patients on the basis of clinical and neuroradiological investigation. The first priority is to identify the type of craniosynostosis and to distinguish between the types that require surgical intervention and those that do not. We report on the different forms of nonsyndromic craniosynostosis, their clinical and neuroradiological diagnoses, and surgical strategies. CONCLUSION: The aim of this review is to provide to paediatricians a correct diagnostic approach and management of children affected from nonsyndromic craniosynostosis, for which a careful physical, ophthalmological and neurological examination is fundamental, whereas brain Computed tomography and magnetic resonance imaging are necessary for patients in which the diagnosis is uncertain or for cases of syndromic craniosynostosis.     

SPECT脑血流灌注断层显像在新生儿缺氧缺血性脑病的初步应用

目的了解新生儿缺氧缺血性脑病（ＨＩＥ）局部脑血流（ｒＣＢＦ）的变化规律，探讨临床表现与ｒＣＢＦ的关系。方法采用锝（９９ｍＴｃ）乙撑双半胱氨酸二乙酯（ＥＣＤ）单光子发射型计算机断层摄影术（ＳＰＥＣＴ）对６７例ＨＩＥ患儿进行脑血流灌注断层显像。结果ＨＩＥ轻度组显像异常率为２０％，中度组７７％，重度组９２％，总异常率为６３％。中、重度组常有２个以上部位异常。结论ＨＩＥ病情轻重与ｒＣＢＦ的变化一致。脑血流灌注断层显像可为探讨ＨＩＥ发病机理和早期诊断提供依据     

磁共振成像和计算机断层扫描影像分度在评估新生儿缺氧缺血性脑病脑损伤程度中的价值

目的 探讨磁共振(MRI)和电子计算机断层扫描(CT)影像分度在评估足月新生儿HIE脑损伤程度中的价值.方法 35例足月HIE患儿于出生11 d内同步进行MRI及CT检查,并与临床分度进行比较.MRI主要观察和分度指标为T1WI、T2WI的异常信号灶;CT主要观察和分度指标为CT值、低密度灶、形态学情况及出血区.应用SPSS 13.0软件进行统计学分析.结果 35例足月HIE患儿MRI及CT影像分度与临床分度均有高度关连性(列联系数为0.723、0.731).HIE以临床表现为诊断标准,CT检出率为91.4%,假阴性率为8.6%,MRI检出率为100%.26例轻度HIE患儿中,临床与影像分度符合率为46.2%(CT)、61.5%(MRI);8例中度HIE患儿中,MRI检出6例、CT检出5例.在34例轻、中度HIE患儿中,MRI示2例基底核出血,发现率为5.9%;CT示9例蛛网膜下腔出血(l例合并脑室内出血),发现率为26.5%;1例重度HIE患儿MRI及CT均示多灶性出血.结论 新生儿HIE的诊断应以临床表现及临床分度为主,影像表现及分度仅作为诊断参考指征之一.MRI异常检出率较CT高,能更早检测出基底核损伤;而CT更能发现蛛网膜下腔出血.     

Neurokinin A level in hypoxic–ischemic encephalopathy

Background: The present study was performed to investigate the effect of neonatal hypoxic–ischemic encephalopathy (HIE) on the neurotransmitter neurokinin A (NKA) and determine its relation to the severity of neonatal hypoxia. Methods: Eighteen neonates suffering from HIE were compared to 10 clinically healthy full‐term neonates acting as the control group. Maternal history of each neonate was collected, then deliveries were attended, resuscitation details including the Apgar score and thorough clinical examination of the neonates were performed. Routine laboratory work‐up was done for the enrolled neonates, including complete blood count and C‐reactive protein as well as estimation of NKA by enzyme‐linked immunosorbent assay in the cord blood and after clinical stabilization. Results: NKA was significantly lower in HIE patients compared to the controls at delivery with improvement in the follow‐up sample. Additionally, the maximum decrease was detected in the neonates who suffered severe hypoxia compared to those who suffered mild hypoxia. Significant positive correlations were demonstrated between NKA at birth and Apgar scores at the 10th and 15th min. Regression showed that stage of HIE was the strongest determinant factor for the level of NKA at birth. Conclusion: NKA levels are decreased in HIE and this is more profound in the severe degrees of hypoxia compared to the mild ones. This emphasizes its role in pathogenesis of HIE and further proves that an imbalance in the central neuropeptide system results from HIE in the neonatal period.     

Cardiac troponin I concentrations in neonates with hypoxic-ischaemic encephalopathy

Aim: Myocardial dysfunction is a frequent sequel of perinatal asphyxia. Cardiac troponin I (cTnI) is a marker of myocardial injury and a surrogate marker of myocardial dysfunction in adults, but there are few data in neonates. Our aim was to compare serum cTnI concentrations with clinical severity of encephalopathy and with duration of inotropic support in asphyxiated neonates. Methods: Retrospective study of 60 neonates admitted with hypoxic‐ischaemic encephalopathy (HIE). cTnI concentrations measured within 36 h of birth were compared with clinical grade of HIE (Sarnat‐Sarnat classification) and with duration of inotropic support. Results: Serum cTnI concentrations and duration of inotropic support were significantly greater with increasing severity of HIE. Median (95% CI) cTnI concentrations were 0.04 μg/L (0.02–0.07 μg/L) in grade 1 HIE, 0.12 μg/L (0.08–0.20 μg/L) in grade 2 HIE and 0.67 μg/L (0.41–1.35 μg/L) in grade 3 HIE. Median (95% CI) duration of inotropic support required was 0 h (0–24 h) in grade 1 HIE, 28 h (0–118 h) in grade 2 HIE and 48 h (0–140 h) in grade 3 HIE. Conclusion: In asphyxiated neonates, cTnI concentrations within 36 h of birth correlate strongly with clinical grade of HIE and with duration of inotropic support. Early cTnI concentrations may provide a useful proxy marker for the anticipated severity of myocardial dysfunction.     

新生儿缺氧缺血性脑病脑脊液环磷酸腺苷变化及其临床意义

目的 探讨新生儿缺血缺氧性脑病(HIE)脑脊液(CSF)环磷酸腺苷(cAMP)变化及其临床意义。方法 采用法国:Immunotech公司提供的125I-cAMP放免药盒对86例HIE患儿进行脑脊液cAMP。结果 中、重度HIE组CSI-cAMP值较非HIE组明显降低,有显著差异(P<0.05);重度HIE患儿CSI-cAMP值较轻、中度患儿降低,差异具有显著性(P<0.05);恢复期较急性期CSF-cAMP值都有所升高,但无显著差异。结论 HIE时CSF-cAMP降低,病情愈重,降低愈明显。CSF-cAMP测定可作为HIE患儿判断病情的辅助指标。     

Short stature,mental retardation,craniosynostosis, Klippel-Feil syndrome,Scheuerman kyphosis,rib gaps and other distinctive skeletal and genital anomalies

A 12-year-old girl with a syndrome of short stature, mental retardation and multiple, distinctive skeletal anomalies such as craniosynostosis, hamate-capitate fusion, first rib gaps, Klippel-Feil anomaly and Scheuerman-like kyphosis is reported.     

新生儿缺氧缺血性脑病药物治疗临床证据

目的：药物治疗是缺氧缺血性脑病（hypoxic-ischemic encephalopathy,HIE）治疗的重要组成部分,以循证医学方法为基础的系统评价和临床随机对照试验为判定药物干预疗效提供了最可靠的证据。该研究检索了近年来的HIE药物治疗的临床证据,并探讨其临床应用价值。方法：检索MEDLINE、EMBASE、Oxford围产新生儿组资料库和Cochrane图书馆关于HIE药物治疗的随机（或半随机）对照研究（randomized or quasi-randomized controlled trials, RCT）和系统评价,并进行分析。结果：4个系统评价和13个RCT涉及HIE的药物治疗临床试验。治疗药物包括巴比妥类药物、别嘌呤醇、硫酸镁、甘露醇、纳络酮和多巴胺。上述药物均不能显著降低HIE患儿新生儿期和婴儿期死亡率以及严重神经发育残疾率和惊厥发生率。结论：目前尚未有临床证据表明某种药物能明显降低HIE患儿死亡率及改善神经系统预后。现有HIE药物治疗的临床试验存在规模小,疗效判定方法不统一等问题,需大规模的临床协作试验证实现有药物的有效性。［中国当代儿科杂志,2009,11（9）：740-744］     

Autosomal recessive omodysplasia: report of three additional cases

Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in l991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type). Received: 12 September 1997 Accepted: 18 September 1997     

轻度新生儿缺氧缺血性脑病神经系统发育结局的系统评价/Meta分析

背景：既往认为轻度新生儿却氧缺血性脑病（HIE）具有良好的长期结局,但近年来有证据表明轻度新生儿HIE较正常儿童存在不良神经发育结局。 目的：探讨轻度新生儿HIE是否受益于亚低温治疗。 设计：系统评价/Meta分析。 方法：检索Pubmed、Embase、Cochrane、CINAHL和中国生物医学文献服务系统（SinoMed）。中英文文献检索截止时间分别为2021年11月12日和2021年12月6日。阅读文题和摘要初筛,之后阅读全文进行再筛。再筛排除标准（满足以下条件之一）：①轻度新生儿HIE诊断不符合（改良）Sarnat标准;②新生儿合并有先天畸形;③不能提取新生儿轻度HIE的结局数据;④随访时间＜12月。采用Revman 5.4和R语言对提取的数据进行Meta整合。异质性采用I2检验,I2＞50%选用随机效应模型,I2≤50%选用固定效应模型。使用GRADE评价证据体质量,证据体中文献数量≥10篇进行发表偏倚分析。 主要结局指标：≥12月龄新生儿HIE死亡率和神经系统伤残联合发生率。 结果：中英文数据库共检索到1 839 篇,再筛113篇,最终24篇文献进入本文 Meta 分析。其中RCT 4篇,队列研究7篇,病例系列报告13篇。21篇文献以二分类变量报告神经系统伤残,3篇文献以连续变量报告神经系统伤残。随访时间在12个月至3岁16篇,＞3岁9篇（1篇文献分别在随访至24月和7岁时报告了神经系统伤残事件）。24篇文献在观察期间均未报告死亡事件。21篇以二分类变量报告的文献中,轻度新生儿HIE总样本量为369例,神经系统伤残发生率为21%（95%CI：14%~29%＝,I2=80%,Egger检验提示存在发表偏倚（t=4.68,P<0.01）;亚低温治疗亚组和非亚低温治疗亚组神经系统伤残发生率分别为11%（95%CI：0~23%）和21%（95%CI：13%~29%)。4篇RCT比较接受亚低温治疗和非亚低温治疗的轻度新生儿HIE患儿神经系统伤残发生率,差异无统计学意义（OR=0.78,95%CI：0.27~2.31,I2=0,P=0.62）;4篇队列研究将接受非亚低温治疗轻度新生儿HIE患儿与正常对照儿童相比,神经系统伤残发生率增加19倍（OR=19.06,95%CI：7.01~51.85,I2=42%,P=0.16）。随访12月龄至3岁亚组和＞3岁亚组神经系统伤残发生率分别为20%（95%CI：11%~29%）和24%（95%CI：11%~36%）。 结论：轻度新生儿HIE随访到3岁潜在的神经系统联合伤残风险增加至24%,对症支持治疗基础上予以亚低温治疗利大于弊。     

新生儿缺氧缺血性脑病的诊治进展及相关问题

对新生儿缺氧缺血性脑病（HIE）的发病机制进行了总结,突出了早期诊断和治疗的重要性,概括了达成共识的临床基本治疗原则,指出近年来在临床诊治中存在的误区,介绍HIE神经保护措施研究的进展,提出尽管亚低温可能是目前治疗HIE最有前景的神经保护措施,但它与其他神经保护措施联合治疗是发展的必然方向。     

生脉注射液对缺氧缺血性脑病新生儿脑血流动力学影响

目的利用彩色多普勒超声研究缺氧缺血性脑病(HIE)新生儿脑血流动力学变化,观察生脉注射液对HIE新生儿脑血流动力学的影响,探索HIE早期治疗干预措施。方法将50例HIE患儿随机分为生脉组(30例)和胞磷胆碱组(20例),分别于治疗前及治疗1周后进行脑血流动力学参数。包括大脑中动脉和大脑前动脉的收缩期峰值流速(PSFV)、舒张末期血流速度(EDFV)、搏动指数(PI)、阻力指数(RI)检测,并与正常对照组进行对比研究。结果HIE患儿PSFV、PI及RI均低于正常对照组,差异均有显著性(P均<0.05);两组治疗后PSFV、EDFV、RI较治疗前明显提高(P<0.01,0.05),生脉组大脑前动脉血流速度的改善明显高于胞磷胆碱组(P<0.01,0.05)。结论HIE新生儿脑血流动力学出现明显紊乱,应用无损伤性彩色超声诊断仪监测脑血流动力学变化有助于早期评估其预后,并指导临床治疗;生脉注射液、胞磷胆碱治疗HIE均有效,但生脉注射液优于胞磷胆碱。