Fetal lipomyelomeningocele: A closed neural tube defect diagnosed at second-trimester ultrasound examination

Fetal lipomyelomeningocele was suspected during the second-trimester ultrasound and confirmed by magnetic resonance imaging. The pregnancy took its course and a term neonate was delivered. At 2 years of age lipomyelomeningocele surgical removal was performed. The patient is now 4 years old and, despite neurogenic bladder, is a healthy boy with normal psychomotor development for his age. This case illustrates the favorable prognosis of this entity and the importance of prompt diagnosis and multidisciplinary counseling.     

Rare and severe neural tube defect: Craniorachischisis totalis

Craniorachischisis totalis is an uncommon and severe form of neural tube defect. It is characterized by anencephaly and spina bifida throughout the vertebral column accompanied by herniation of neural tissue and meninges. Hepatic calcification in the fetus is rare and its clinical significance is not fully established.     

尿毒症儿童父母教养压力调查与分析

目的 调查尿毒症儿童父母教养压力水平,为开展心理干预和社会支持提供科学依据.方法 采取教养压力指标简表对49例尿毒症儿童父母和50例正常儿童父母的教养压力进行调查.结果 尿毒症儿童父亲与母亲教养压力总分和各维度得分均高于正常儿童父母(P<0.01);尿毒症儿童母亲在教养压力总分和亲职愁苦、困难儿童维度得分高于父亲(...     

依据卫生行业标准建立产前监测和开放性神经管缺损诊断AFP中位值及评价

目的 依据卫生行业标准(WS/T247-2005)推荐方法建立产前监测和开放性神经管缺损诊断AFP中位值.方法 分别用100例15-20孕周的孕中期母体血清检测AFP结果计算AFP中位值,与累积中位值相比较,并评价中位值与孕周的线性关系.结果 按标准方法计算的中位值与累积中位值无明显差异,与孕周呈良好的半对数线性关系,其筛查总阳性率为1.09%.结论 卫生行业标准(WS/T247-2005)推荐的产前监测和开放性神经管缺损诊断AFP中位值建立方法与大批量监测数据计算结果高度一致,在尽量降低数据量的前提下,保证了中位值计算结果的可靠性.     

蛋氨酸合成酶还原酶基因多态性与先天神经管缺陷的关系

目的研究同型半胱氨酸代谢相关酶中蛋氨酸合成酶还原酶（MTRR）基因的多态性与先天神经管缺陷发病的相关性。方法采用病例对照研究的方法,以82名先天神经管缺陷的胎儿及新生患儿（疾病组）与180名无先天神经管缺陷的胎儿及新生儿（对照组）的血白细胞为样本,应用聚合酶链反应-限制性片段长度多态性技术检测两组的MTRR基因第66位点的多态性,比较两组的基因型和等位基因的分布频率,将疾病组按先天神经管缺陷分布分为单一畸形组和多畸形组,分别为28、54名,比较两组的基因型和等位基因的分布频率。结果 MTRR的66位点AA、AG和GG基因型在疾病组中分别为26.83%、43.90%、29.27%,在对照组中分别为43.89%、43.89%、12.22%。两组的分布频率差异有显著性。而此基因位点AA、AG和GG基因型在单一畸形组中分别为25.00%、42.86%、32.14%,在多畸形组中分别为25.93%、40.74%、33.33%,两组的分布频率无显著差异性。结论 （1）MTRR基因第66位点的多态性与先天神经管缺陷的发病具有一定程度的相关性;（2）MTRR基因第66位点中的A/A可能为先天神经管缺陷的保护基因;（3）此位点的变异与先天神经管缺陷的分布频率无明显相关性。     

Effect of nursing interventions on stressors of parents of premature infants in neonatal intensive care unit

Aim. This study was planned for the purpose of determining the effect of stress‐reducing nursing interventions on the stress levels of mothers and fathers of premature infants in a Neonatal Intensive Care Unit (NICU). Design. Randomised intervention. Background. The physical and psychosocial environment of the NICU is a major factor in the stress experienced by the family. Method. Interviews were conducted with the parents of premature infants who agreed to participate in the research. An approximately 30‐minute educational programme about their infant and the intensive care unit was held for the mothers and fathers in the intervention group within the first week after their infant was admitted to the intensive care unit. Then they were introduced to the unit and personnel. They were given the information they requested and their questions were responded to. The parents in the control group received nothing in addition to the routine unit procedures. The mothers and fathers’ stress scores were measured for both groups after their infants’ 10th day in the NICU with the Parental Stress Scale: NICU (PSS:NICU). Results. The difference between the intervention group and the control group mothers’ mean stress score was found to be statistically significant (t = 4·05, p < 0·05). It was determined that the stress scores for the fathers in the treatment group in this research were lower, but the difference between the two groups was not found to be statistically significant (p > 0·05). Conclusion. It has been determined that parents experience very high stress levels when their infants are admitted to an NICU and that there are nursing interventions which can be implemented to decrease their levels of stress. Relevance to clinical practice. Determining the sources of stress experienced by parents can help NICU nurses use appropriate interventions in cooperation with other members of the team to decrease the stress that parents experience.     

Sense of Coherence,Parenting Attitudes and Stress among Mothers of Children with Autism in Hong Kong

Background The moderating and mediating relationships among sense of coherence, parental attitudes and parenting stress for caregiving parents of children with autism were tested. Materials and Methods One hundred and fifty‐seven mothers of children with autism recruited from representative community service centres in Hong Kong completed the Chinese versions of Sense of Coherence Scale (SOC), Confidence and Acceptance subscales of Parent‐Attitude Survey Scales and Parenting Stress Index Short Form. Results Accounting for mothers’ demographic background, SOC showed a moderating effect with child's symptoms and parenting stress. Mothers with a strong SOC perceived lower stress than their counterparts even when their children presented with more severe autistic symptoms. Two proximal factors in parenting, parental confidence and acceptance of the child, were found to partially mediate SOC and stress. Conclusions The stress experience of mothers of children with autism is related strongly to a global sense of coherence as well as more specific parenting attitudes.     

缺血性脑卒中患者血清炎性细胞因子变化与神经功能缺损及其相关因素的关系

背景随着对急性脑梗死病理生理机制的深入探讨,发现炎症反应在中枢神经系统缺血性损伤中占有重要地位,其中肿瘤坏死因子α,白细胞介素1β和可溶性细胞间黏附分子1正成为研究的热点.目的研究缺血性脑卒中患者血清中炎性细胞因子水平与病程,病情严重程度的关系.设计以患者和健康人为研究对象,病例-对照研究.单位武汉大学医院的神经内科.对象2001-01/2003-12武汉大学人民医院神经内科住院和门诊缺血性脑卒中患者50例,其中男23例,女27例,平均年龄(60.26±8.77)岁.对照组40例为同期门诊体检的健康人,其中男18例,女22例,平均年龄(61.05±8.09)岁.干预采用双抗体夹心酶联免疫吸附法测定血清肿瘤坏死因子α,白细胞介素1β,可溶性细胞间黏附分子1水平.主要观察指标缺血性脑卒中患者病程不同时期、不同梗死体积、不同神经功能缺损程度血清中肿瘤坏死因子α,白细胞介素1β,可溶性细胞间黏附分子1水平.结果急性期、恢复期脑梗死患者血清肿瘤坏死因子α,白细胞介素1β和可溶性细胞间黏附分子1水平较对照组显著增高(P＜0.01),急性期又较恢复期高(P＜0.05),增高程度与神经功能缺损程度及梗死体积大小密切相关,且血清中肿瘤坏死因子α含量与白细胞介素1β和可溶性细胞间黏附分子1也相关. 结论肿瘤坏死因子α,白细胞介素1β和可溶性细胞间黏附分子1互相作用参与了急性脑梗死的炎症反应和再灌流损伤.对它们的监测可为早期临床治疗及康复干预提供试验指标,以便控制脑卒中的进展及复发.     

95例婴儿室间隔缺损的外科治疗

目的 总结婴儿室间隔缺损（VSD）手术治疗及术后处理的经验。方法 低温体外循环下行VSD修补术。术中发现60（63.2%）例合并其他畸形,予以同期矫治,直接缝合VSD74例（77.9%）,补片修补21例（22.1％）,除7例用涤纶片或毡片均用新鲜自体心包片修补。结果 全组术后并发症发生率18.9％,30天内死亡6例（6.3％）。随访89例,除3例（3.2％）有少量残余分流外,无其他并发症。结论 VSD有症状者早诊断、早手术效果满意;无症状者可观察到1岁左右,体重6kg以上再手术有利于避免风险。     

1型糖尿病患儿父母亲职压力影响因素及干预措施的研究进展

阐述亲职压力的概念,综述1型糖尿病患儿父母亲职压力的现状、影响因素及干预措施。指出临床医护工作者可借鉴国外研究成果,从疾病管理、自我效能及应对方式等可控性因素入手,通过评估父母照顾问题及需求,为其提供疾病管理支持与协调服务,通过心理干预加强父母疾病管理自我效能和积极应对方式。同时探讨1型糖尿病患儿父母亲职压力的根源,制定针对性的干预措施。     

Stress and well-being among parents of children with rare diseases: a prospective intervention study

AIM: This paper reports a study to assess stress, well-being and supportive resources experienced by mothers and fathers of children with rare disabilities, and how these variables were affected by an intensive family competence intervention. BACKGROUND: Despite diagnosis-specific studies, little overall knowledge exists about life-consequences for families of children with rare disorders. METHOD: We used a prospective design with baseline data and two follow-ups (at 6 and 12 months) after an intervention. The intervention aimed at empowering parents in managing their child's disability. Parents from all parts of Sweden visiting a national centre for families of children with rare disabilities were consecutively selected (n = 136 mothers, 108 fathers). Instruments of parental stress, social support, self-rated health, optimism and life satisfaction and perceived physical or psychological strain were used. Stratified analyses were carried out for mothers and fathers, and related to parental demands: single mothers, full-time employment, participation in a parent association, child's age and type of disability. RESULTS: We found high parental stress, physical and emotional strain among mothers, especially among single mothers. Fathers showed high stress related to incompetence, which decreased after the intervention. Decreased strain was found among full-time working mothers and fathers after the intervention. Parents' perceived knowledge and active coping and mothers' perceived social support were increased at follow-up. Factors related to parents' overall life satisfaction (57-70% explained variance) changed after the intervention, from being more related to internal demands (perceived strain, incompetence and social isolation) to other conditions, such as problems related to spouse, paid work and social network. CONCLUSION: Parents, especially fathers and full-time working parents, may benefit from an intensive family competence programme.     

先天性心脏病患儿父母焦虑状况及相关因素分析

[目的]调查先天性心脏病患儿父母焦虑状况并分析其相关因素。[方法]采用SAS量表评价了50例先天性心脏病患儿父母,并对其影响因素进行统计学分析。[结果]先天性心脏病患儿父母焦虑状况高于国内常模,其发生与被调查对象与患儿的关系、父母亲年龄、父母亲文化程度、家庭人均月收入及父母亲来源等有关。[结论]先天性心脏病患儿父母存在较严重的焦虑情绪,应重视对先天性心脏病患儿父母的心理干预。     

先天性心脏病患儿父母焦虑状况及相关因素分析

[目的]调查先天性心脏病患儿父母焦虑状况并分析其相关因素。[方法]采用SAS量表评价了50例先天性心脏病患儿父母,并对其影响因素进行统计学分析。[结果]先天性心脏病患儿父母焦虑状况高于国内常模,其发生与被调查对象与患儿的关系、父母亲年龄、父母亲文化程度、家庭人均月收入及父母亲来源等有关。[结论]先天性心脏病患儿父母存在较严重的焦虑情绪,应重视对先天性心脏病患儿父母的心理干预。     

Chronic sorrow and depression in parents of children with neural tube defects.

Chronic sorrow has been described in the caregivers of individuals with myelomeningocele, multiple sclerosis, Parkinson's disease, cancer, and premature infants. Most studies have reported small numbers of fathers for comparison with mothers. One unpublished study compared chronic sorrow and depression. The purpose of the current study was to describe parental chronic sorrow following the birth of a child with neural tube defect and to explore the relationship between chronic sorrow and depression. One hundred and thirty-two parents (63 mother/father pairs and 6 single parents) responded to 3 measures of chronic sorrow and 1 measure of depression. Multivariate analysis of variance demonstrated significant differences between mothers and fathers in chronic sorrow. In addition, a relationship between chronic sorrow and depression was demonstrated. Chronic sorrow is a potential barrier to parental understanding of their child's care and diagnosis. Based on these findings, separate assessments of each parent and timely interventions are warranted. Further research should include more than 1 measure of chronic sorrow and delineate the dimensions being measured.     

The development of a digital educational program with parents of preterm infants and neonatal nurses to meet parents educational needs

The aim of this research project is to explore parents and staff opinion about the development of a digital educational program to meet parent's educational needs in neonatology. For this qualitative study, one-on-one and group interviews were conducted in person or via a web platform with 15 mothers, 5 fathers and 9 neonatal nurses. Participants considered the digital educational program presented relevant and complete. They believed the digital educational program should be available as soon as possible for parents, at admission or even before. More than half thought it was better to have the information presented on a website, while an equal number of participants considered an application to be optimal. In addition, participants proposed several additional topics to add, such as information about discharge, resources available in the NICU or after discharge, and breastfeeding complications, among others. In conclusion, a digital educational program addressing topics such as parenting, infants' behaviour and appearance, and the care environment is appropriate to meet the needs of premature infants' parents.