歪嘴哭面容、声带麻痹合并先天性心脏病

患儿,女,生后2 h,因口周青紫入院。出生胎龄35周,剖宫产娩出,出生体重2 400 g。查体发现哭时口角向左侧歪斜、小耳廓、高腭弓,纤维喉镜示双侧声带麻痹,超声心动图示室间隔缺损,单核苷酸多态性检查示22q11.21微缺失,该患儿确诊为歪嘴哭综合征伴22q11.21微缺失。随访至8个月,患儿仍存在歪嘴哭面容,并且存在生长发育迟缓。     

歪嘴哭综合征伴 CREBBP基因杂合突变一例

歪嘴哭面容是由于患儿一侧口角降肌发育不全,致啼哭时健侧口角下拉和向外,形成歪嘴哭脸 [1],当合并其他畸形时,称为歪嘴哭综合征(asymmetric crying syndrome,ACS)。本研究报告1例我院新生儿科确诊的不伴22q11.2染色体缺失但伴有 CREBBP基因杂合突变的ACS患儿的临...     

歪嘴哭面容5例临床报告

歪嘴哭面容(asymmetric crying facies,ACF)是一种由于单侧口角降肌发育不良造成的面部先天性畸形,当合并其他畸形时,称为歪嘴哭综合征(asymmetric cry syndrome),该病在国内少见报道,近十年仅报道22例[1,2],许多临床医师对该病认识不深,易误诊.我院自2002年以来诊断5例,现报告如下.     

全身运动质量评估对窒息新生儿24月龄时不良结局的预测价值

目的探讨全身运动(GMs)质量评估预测足月窒息新生儿24月龄时不良结局的价值。方法 2009~2012年入住NICU、且出院后获得随访的114例足月窒息患儿为研究对象。生后3个月内进行GMs质量评估。出院后随访至24月龄时采用贝利婴幼儿发展量表(BSID)测试发育商。结果 GMs评估结果:扭动运动阶段为单调性全身运动的有20例(17.5%),为痉挛性同步运动的有7例(6.1%);不安运动阶段评估为不安运动缺乏的有8例(7.0%)。24月龄时发育商评估结果:有不良发育学结局共7例(6.1%),其中脑瘫伴智力发育迟滞6例,智力发育迟滞1例。GMs评估示扭动运动阶段单调性全身运动与24月龄时患儿发育结局的一致性差(Kappa=-0.019,P0.05)。痉挛性同步运动与24月龄时患儿发育结局的一致性较高(Kappa=0.848,P0.05),其对24月龄发育结局的预测效度为98.2%,敏感度为85.7%,特异度为99.1%,阳性预测值为85.7%,阴性预测值为99.1%。不安运动阶段不安运动缺乏与24月龄时患儿发育结局的一致性较高(Kappa=0.786,P0.05),其对24月龄发育结局的预测效度为97.4%,敏感度为85.7%,特异度为98.1%,阳性预测值为75.0%,阴性预测值为99.1%。结论 GMs评估示痉挛性同步运动和不安运动缺乏对窒息新生儿24月龄时的不良发育结局有较好的预测价值。     

Citrin缺陷病患儿体格和神经心理发育状况

目的 探讨Citrin缺陷病（Citrin deficiency,CD）患儿的体格和神经心理发育情况。 方法 选择2010年8月至2015年8月于暨南大学附属第一医院就诊,经SLC25A13基因分析确诊的93例CD患儿（年龄：1.9~59.8个月）为研究对象,对其出生情况、体格生长及神经心理发育指标进行回顾性分析。其中7例患儿1岁内及1岁后各做过1次体格测量及神经心理发育评估,故共纳入100例次进行分析。 结果 93例患儿中,生长发育落后发生率为25%（23例）,小于胎龄儿比例为47%（44例）。生长迟缓、低体重、消瘦、超重及小头畸形发生率分别为23%（23例次）、14%（14例次）、4%（4例次）、8%（8例次）、9%（9例次）。神经心理发育迟缓率为25%（25例次）,适应性、大运动、精细动作、语言、个人社交5个能区发育迟缓率分别为7%（7例次）、15%（15例次）、7%（7例次）、9%（9例次）、7%（7例次）。 结论 CD患儿存在体格及神经心理发育落后,建议对其体格及神经心理发育进行定期评估。     

全身运动质量评估对高危新生儿神经学发育结局信度和预测效度的研究

摘要 目的 以全身运动(GMs)质量评估技术对高危新生儿神经发育结局的信度和预测效度进行临床应用研究。方法 按照纳入和排除标准选择在复旦大学附属儿科医院新生儿重症监护病房住院，出院后分别在新生儿科和康复科进行随访的高危新生儿为研究对象，均记录GMs。在早产阶段和扭动运动阶段至少记录1次GMs，在不安运动阶段至少记录1次GMs。随访至1周岁以上明确神经学发育结局，采用Peabody运动发育量表(PDMS 2)确定是否有运动发育迟缓。计算敏感度、特异度、阳性预测值和阴性预测值。通过30名评估者对12例研究对象进行GMs评估，用来检测评分者间信度。由6名评估者在第1次测试间隔2个月后，对12例研究对象进行第2次测试，用来测定重测信度。结果 纳入58例高危新生儿为研究对象，男34例，女24例，早产儿42（72%）例，孕周为27~36周，平均（31.4±2.0）周，出生体重为830~2 900 g，平均（1 642±408）g；足月儿16（28%）例，孕周为37~41周，平均（38.6±1.1）周，出生体重为2 650~4 150 g，平均（3 401±365）g；随访年龄最小为12个月，最大为40个月。在早产阶段和扭动运动阶段GMs记录115次，人均记录（2.0±0.8）次；在不安运动阶段GMs记录89次，人均记录（1.5±0.6）次。随访结局：7例（12%）诊断为痉挛型脑性瘫痪（脑瘫），5例（9%）评定为运动发育迟缓，46例（79%）评定为运动发育正常。评估者间信度ICC值为 0.97~0.99，重测信度ICC值为0.69。早产阶段和扭动运动阶段GMs评估预测效度：敏感度83%、特异度78%、阳性预测值为50%和阴性预测值为95%；不安运动阶段GMs评估预测效度：敏感度75%、特异度98%、阳性预测值为90%和阴性预测值为94%。结论 在高危新生儿出生后4~5月龄内应用GMs质量评估可以就后期神经发育结局作出准确有效的预测，对脑瘫的预测更为准确。GMs质量评估在不同评估者间的稳定性高，在初学者中具有中等程度的重测信度。GMs质量评估作为一种非侵入性、非干扰性的新型神经运动评估手段，操作简便，经济投入少，适于在我国应用和推广。     

托莫西汀在注意力缺陷多动障碍患儿中的精准药学研究：CYP2D6基因检测和治疗药物监测

约3%的孕妇患有慢性肾脏病（chronic kidney disease,CKD）。该文复习了关于CKD母亲（包括透析和肾移植患者）的新生儿结局的文献。文献显示：妊娠合并CKD会增加新生儿发生早产、低出生体重及小于胎龄儿的风险,但不增加发生先天结构畸形的风险;从远期结局来看,对子代体格发育、免疫功能无显著影响;子代的神经发育结局与早产、低出生体重相关,与宫内药物暴露无关。仍需更进一步的研究及随访以探讨CKD母亲的新生儿结局。     

慢性肾脏病母亲的新生儿结局

约3%的孕妇患有慢性肾脏病（chronic kidney disease,CKD）。该文复习了关于CKD母亲（包括透析和肾移植患者）的新生儿结局的文献。文献显示：妊娠合并CKD会增加新生儿发生早产、低出生体重及小于胎龄儿的风险,但不增加发生先天结构畸形的风险;从远期结局来看,对子代体格发育、免疫功能无显著影响;子代的神经发育结局与早产、低出生体重相关,与宫内药物暴露无关。仍需更进一步的研究及随访以探讨CKD母亲的新生儿结局。     

全身运动质量结合诱发电位在预测高危新生儿运动发育中的应用

目的探讨早期应用全身运动(GMs)质量评估技术结合诱发电位(EPs)对预测高危新生儿运动发育的临床价值。方法选择112例儿童神经康复科门诊随访的高危新生儿,分别在GMs扭动运动阶段和不安运动阶段进行GMs评估和EPs检测,连续随访并在纠正年龄12月龄时根据2006年脑瘫(CP)诊断标准及Peabody运动发育量表确定其运动发育结局,计算全身运动质量、诱发电位以及两者结合的预测效度。结果 112例研究对象运动发育结局,脑瘫26例(23.2%)、运动发育迟缓14例(12.5%)、正常72例(64.3%)。扭动运动阶段GMs及正中神经诱发电位(MNSEP)均异常对运动发育异常的预测灵敏度80.0%,特异度98.6%,阳性预测值97.0%,阴性预测值89.9%;不安运动阶段GMs异常对于脑瘫的预测灵敏度96.1%,特异度97.7%,阳性预测值92.6%,阴性预测值98.8%;GMs及MNSEP均异常预测效度无显著提高。两阶段中MNSEP均异常对运动发育异常的预测灵敏度82.5%,特异度91.7%,阳性预测值84.6%,阴性预测值90.4%。结论在扭动运动阶段联合GMs及MNSEP可提高对高危新生儿运动发育异常的预测效度。     

230例极低出生体质量儿随访至纠正6月龄生存质量分析

目的分析极低出生体质量(VLBW)婴儿的短期预后。方法回顾性分析2013年12月至2014年12月收治的VLBW婴儿随访至纠正6月龄的生存质量。结果共入选230例符合标准的VLBW婴儿,出院时死亡30例(13.0%),放弃治疗40例(17.4%),好转签字出院60例(26.1%),治愈100例(43.5%)。30例死亡VLBW婴儿中,主要为新生儿呼吸窘迫综合征18例、肺出血5例、败血症3例。200例存活婴儿随访至纠正6月龄时,13例(6.5%)失访;54例(27.0%)死亡,其中40例是因经济原因放弃治疗或好转签字出院的。纠正1、3、6月龄时,继续随访的VLBW婴儿身长、体质量均随月龄增长逐渐接近儿童生长标准,但至纠正6月龄时仍明显落后于儿童生长标准;身长落后较体质量落后更明显。109例患儿行眼底筛查,其中早产儿视网膜病变Ⅰ期21例、Ⅱ期7例,眼底出血行激光光凝术6例;98例患儿行听力筛查,单侧未通过5例,双侧未通过11例;95例患儿行头颅磁共振成像(MRI)检查,颅内出血10例,早产儿脑损伤9例。49例患儿纠正胎龄42周行新生儿神经行为测定(NBNA)均≤35分;纠正3月龄时,36例患儿行Gesell发育量表评估,轻度发育迟缓11例、中度2例;纠正6月龄时,24例行Gesell发育量表评估,轻度发育迟缓2例。VLBW婴儿在适应能力、社交行为、大运动方面进步较快。结论经济条件及新生儿呼吸窘迫综合征、肺出血、败血症是影响VLBW婴儿存活及生存质量的重要因素;存活VLBW婴儿的生长发育均有逐渐好转现象。     

Population-based case-control study of oxoline acid use during pregnancy for birth outcomes

The objective of the study was to check the effect of oxoline acid, a bactericidal drug for the treatment of urinary tract infection during pregnancy, on congenital abnormalities of informative offspring and fetal development. Human data of oxoline acid use during pregnancy have not been reported, but the use of this quinolone derivative is not recommended during pregnancy by the US Food and Drug Administration. The teratogenic and fetotoxic potential of oxoline acid was evaluated in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Observed and expected numbers of congenital abnormalities were compared in the newborn infants and fetus of case mothers with oxoline acid treatment. In addition, gestational age and birthweight were evaluated in control newborn infants born to mothers with or without oxoline acid treatment. Of 38,151 newborn infants without any congenital abnormalities (control group), 13 (0.03%) had mothers who were treated with oxoline acid, while of 22,843 cases with congenital abnormalities, five (0.02%) had mothers who were treated with oxoline acid during pregnancy (POR with 95% CI: 0.6, 0.2-1.8). The comparison of observed and expected number of different congenital abnormalities did not show the teratogenic potential of oxoline acid. There was a 0.9 weak shorter gestational age without a smaller birthweight in the newborn infants born to mothers with oxoline acid treatment. Our data did not indicate teratogenic and fetotoxic effect of oxoline acid, however, the number of cases and controls was limited.     

系统性红斑狼疮合并妊娠子代早产儿42例临床分析

目的 探讨系统性红斑狼疮（SLE）合并妊娠子代早产儿的临床特点,提高新生儿科医师对这部分早产儿的认识。方法 收集2000年1月至2012年6月间SLE合并妊娠子代早产儿的临床资料进行回顾性分析,并与同期出生的除SLE合并妊娠子代早产儿以外的2 308例早产儿住院期间并发症发生情况进行对比。结果 SLE合并妊娠子代早产儿共42例,女婴比例明显高于男婴,其中确诊新生儿狼疮综合征4例。新生儿感染为SLE合并妊娠子代早产儿最常见并发症（47.62%）,其次为小于胎龄儿（28.57%）,新生儿呼吸窘迫综合征（26.19%）,新生儿窒息和先天性心脏病（均为14.29%）,肺出血（4.76%）;与同期收治的2 308例早产儿合并新生儿感染（16.81%）、小于胎龄儿（13.21%）和先天性心脏病（5.16%）的发生率进行比较,差异均有统计学意义（均P<0.05）;其他合并症的发生率在两组早产儿间比较差异均无统计学意义。结论 SLE合并妊娠子代早产儿易合并感染性疾病、小于胎龄儿及先天性心脏病,而呼吸方面并发症与同期其他早产儿相比无显著差异。     

Population-based case-control study of oral ketoconazole treatment for birth outcomes

The objective of the study presented here was to check the effect of oral ketoconazole treatment on fetal development. Ketoconazole has been given a teratogenic classification of C by the US Food and Drug Administration, but human controlled epidemiological studies of the treatment's effects have not been reported. The occurrence of ketoconazole use in the second to third months of gestation was compared between cases with congenital abnormalities and their matched controls in the large population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. Birth weight and gestational age were evaluated in control newborn infants born to mothers with or without ketoconazole treatment. The case group comprised 22,843 cases with congenital abnormalities, while the control group contained 38,151 newborn infants without any defects. Six infants (0.03%) and 12 controls (0.03%) had mothers who had received oral ketoconazole treatment (prevalence odds ratio: with 95% confidence interval: 0.8, 0.3-2.2). No group of infants with congenital abnormalities had mothers with a higher incidence of use of the drug. The mean gestational age was somewhat longer while birth weight was somewhat larger in controls with ketoconazole treated mothers. Our study failed to demonstrate a higher rate of congenital abnormalities in infants with mothers who had received oral ketoconazole treatment during pregnancy.     

Population-based case-control study of mebendazole in pregnant women for birth outcomes

The objectives of the study was to check the embryotoxic-teratogenic and fetotoxic effect of mebendazole (Vermox; Richter, Budapest, Hungary) treatment during pregnancy. Mebendazole use during pregnancy was evaluated in mothers of babies born with congenital abnormalities and in matched control mothers of babies born without congenital abnormalities in the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of 22,843 women who had newborns or fetuses with congenital abnormalities, 14 were found to have been treated with mebendazole for intestinal nematoda infections/diseases during pregnancy (crude POR: 1.8 with 95% CI: 0.7-4.2). Of 38,151 women who had newborns without any defects (controls), the same number (14) were found to have been treated with mebendazole during pregnancy. Six different congenital abnormality groups were evaluated and a higher prevalence of mebendazole use in these mothers throughout pregnancy was not found. Gestational age and birth weight were analyzed in control infants born to mothers with or without mebendazole treatment. The mean gestational age was somewhat longer and mean birth weight was larger in newborn infants born to mothers with mebendazole treatment. Thus, treatment with mebendazole during pregnancy did not indicate a teratogenic and fetotoxic risk to the embryo or fetus, though the numbers of treated cases and controls in this study were limited.     

新生儿红斑狼疮八例分析

目的提高对新生儿红斑狼疮（neonatal lupus erythematosus,NLE）的认识。方法分析2003年9月至2006年2月诊断为NLE患儿的临床表现、狼疮相关血清学指标及头颅CT等辅助检查,并随访至正常或1．5岁。结果共8例患儿诊断为NLE,其中男3例,女5例,足月小样儿4例,临床表现为皮疹（8例）、肝脾肿大（5例）、血小板减少（4例）、神经系统异常（2例）、Ⅲ度房室传导阻滞（AVB）（1例）等。仅3例患儿的母亲产前诊断为系统性红斑狼疮。患儿均有抗核抗体（ANA）和／或抗干燥综合征A抗体（Ro／SSA）和／或抗干燥综合征B抗体（La／SSB）阳性,母亲均有ANA阳性。所有症状除Ⅲ度AVB外均消失,1例神经系统异常者1．5岁随访时也表现正常。结论需提高对NLE的认识才能避免漏诊,早期神经系统异常者不能轻易下有后遗症的结论。     

Perinatal outcome of infants born to diabetic mothers in a developing country-comparison of insulin and oral hypoglycemic agents

Objective

To study the perinatal outcomes of infants born to mothers with gestational diabetes treated with insulin or oral hypoglycemic agents in a developing country.

Design

Prospective observational cohort study.

Setting

Tertiary-care perinatal center in southern India.

Participants

Babies born to mothers with gestational diabetes.

Methods

Maternal details were obtained and physical examination was performed on the neonates. Babies were given hourly feeds soon after birth and blood glucoses checked at 1, 3, 5, 9 and 12 hours of life; hematocrit and calcium levels were also measured. Perinatal outcomes were compared between mothers who required insulin or an oral hypoglycemic agent for treatment of diabetes.

Results

Of the 10,394 mothers who delivered during the study period, 574 (5.5%) were diagnosed to have gestational diabetes. 137 were treated with insulin and 141 with oral hypoglycemic agents. 44 (15.8%) babies were born preterm, 97 (35%) were large for gestational age, 13 (4.7%) were small for gestational age and 9 (3.2%) were macrosomic. Hypoglycemia was seen in 26 (9.3%) babies, congenital anomalies in 15 (5.4%) and birth injuries in 7 (2.5%). There was no difference between the two groups in any of the outcomes except for hyperbilirubinemia, which was more in the insulin group (13.7% vs 6.5%, P=0.04).

Conclusions

There was no difference in the perinatal outcome whether the mother received insulin or an oral hypoglycemic agent for treatment of gestational diabetes other than the increased incidence of hyperbilirubinemia in the insulin group     

Immature adrenal steroidogenesis in preterm infants

Screening for congenital adrenal hyperplasia is associated with a high rate of false positive results in preterm infants. Some RIA studies have detected elevated levels of 17α-hydroxyprogesterone in severely ill preterm infants. However, because the antisera used with RIAs have a high degree of cross-reactivity, RIA results may not be reliable. Adrenal steroidogenesis was evaluated in 33 preterm infants born at less than 32 weeks' gestation using reversed-phase high performance liquid chromatography. 17α-hydroxyprogesterone, 11-deoxycortisol, and/or corticosterone were detectable temporarily at about 29 weeks of equivalent gestational age in 27 of 33 preterm infants. Levels of cortisol and cortisone were markedly decreased in 4 of 16 infants whose mothers had received steroids. These findings suggest that the activities of 21-hydroxylase, 11β-hydroxylase, and 18-hydroxylase are decreased at about 29 weeks of equivalent gestational age. Steroid levels should be carefully monitored in preterm infants with elevated intermediate steroids and preterm infants whose mothers receive steroids before delivery using reversed-phase high performance liquid chromatography.     

脑性瘫痪儿童的MRI特征

目的 探讨脑性瘫痪(脑瘫)患儿脑MR／的表现及其与出生胎龄和脑瘫类型的关系。方法 回顾性分析104例脑瘫患儿的病史、l临床与MR／表现。结果 早产与足月儿脑瘫类型构成显著不同,早产儿以痉挛性双瘫多见(占66．O％),而足月儿偏瘫和失调型高于早产儿。104例脑瘫患儿MR／异常率为84．7％,早产和足月儿组MHI异常率差异无显著性。痉挛型双瘫、四肢瘫、偏瘫、手足徐动型和失调型脑瘫MR／异常率分别为89．4％、100％、100％、54．5％和90．O％。31／42例痉挛性双瘫表现为脑室周围白质软化症(PVL),而以早产儿双瘫更多见(90％);各类型脑瘫的MR／异常表现不同,双瘫以PVL为主,徐动型表现为基底节病变或．PVL失调型绝大部分存在先天性小脑发育不全,偏瘫型突出表现为单侧脑损伤。出生胎龄与MRI特点有关,早产儿组以PVL为特征,见于除失调型外的其他脑瘫类型;足月儿脑瘫MR／异常表现变化多且病变广泛。结论MR／有助于评价各型脑瘫的病理特点及其与出生胎龄的关系．对脑瘫病因的推测有帮助。     

Are the neonatal outcomes similar in large-for-gestational age infants delivered by women with or without gestational diabetes mellitus?

Background

Infants are considered large for gestational age (LGA) if their birth weight is greater than the 90th percentile for gestational age and they have an increased risk for adverse perinatal outcomes. Maternal diabetes is one of the factors affecting birthweight. However there are limited data on the perinatal outcomes of infants of gestational diabetic mothers. The aim of the present study was to compare the neonatal outcomes of LGA infants delivered by women with and without gestational diabetes mellitus.

Methods

This was a retrospective study of LGA infants of ??36 weeks of gestation born at the Gazi University Medical School Hospital during the period of 2006?C2009. Neonatal outcomes included hypoglycemia and polycythemia in the early neonatal period and hospital admissions. The Chi-square and Student??s t test were used for comparing variables.

Results

Seven hundred eligible infant-mother pairs were enrolled in the study. Eighty-seven of them (12.4%) were infants of gestational diabetic mothers and 613 (87.6%) were infants of non-diabetic mothers. The incidence of hypoglycemia at the first hour was higher in infants of diabetic mothers (12.8%) than in infants of non-diabetic mothers (5.3%) (P=0.014). Polycythemia was also more frequently observed in infants of the gestational diabetic mothers (9.3%) than in infants of the non-diabetic mothers (3.0%) (P=0.010). Although overall hospital admission rates were not different between the two groups, infants of diabetic mothers were more likely to be admitted because of resistant hypoglycemia (P=0.045).

Conclusions

The results of this study suggested that LGA infants of mothers with gestational diabetes mellitus were at a greater risk for hypoglycemia and polycythemia in the early neonatal period than LGA infants of nondiabetic mothers.     

Short-term outcomes of late preterms: an institutional experience

This article describes the short-term outcomes of late preterm neonates born between 34 and 36 (6/7) weeks gestational age (GA) in a 4-year period. A total of 1381/ 20554 (6.7%) births were between 34 and 36 weeks of GA and were predominantly Caucasian (87%). In all, 697/1381 (51%) were admitted to nursery whereas 684/1381 (49%) remained with their mothers. Of the babies born at 34, 35, and 36 weeks GA, 97%, 53%, and 32%, respectively, required admission and of these 30%, 33%, and 23%, respectively, required respiratory support. Air leaks developed in <4% infants. Median length of stay and age at full enteral feeds were 11, 6, and 4 days and 10, 6, and 3 days for 34, 35, and 36 weeks GA, respectively. It is concluded that late preterms have significant morbidity in the neonatal period.