638171例新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查结果分析

目的分析厦门市和龙岩市2007年1月—2013年12月新生儿遗传代谢性疾病筛查结果,了解新生儿苯丙酮尿症(PKU)和先天性甲状腺功能低下症(CH)的发病率及诊疗情况。方法采集出生满72 h的新生儿足跟血,PKU筛查采用化学荧光法检测血苯丙氨酸浓度,CH筛查采用时间分辨免疫荧光法检测促甲状腺激素浓度。筛查阳性和疑似病例均随访,并观察其智能发育情况。结果 PKU、CH的发病率分别为1/39 886和1/1 078,治疗率分别为95.65%和98.31%,共有23例患儿遗留不同程度智能发育障碍。结论新生儿疾病筛查是早期发现并诊断疾病的关键,及早干预和治疗可避免或减轻患儿智能、体格发育障碍,提高人口素质。     

渭南地区先天性甲状腺功能减低症新生儿筛查和早期诊断

目的：总结与分析渭南地区先天性甲状腺功能减低症（C H ）新生儿筛查结果与早期诊断特点。方法回顾性分析2010年8月至2013年10月于渭南市新生儿疾病筛查中心进行新生儿C H筛查与诊断的资料。结果共筛查新生儿标本71084例,确诊C H患儿45例,发病率为0．633‰,患儿的临床表现以病理性黄疸为主（51．11％）,促甲状腺激素（TSH）≥32 mIU/L患儿占62．22％;经Pearson相关性分析后,四碘甲状腺原氨酸（T4）、游离甲状腺素T4（FT4）与CH患儿婴幼儿智力发育测试总分、精细运动以及适应性等均呈正相关关系（P＜0．05）。结论渭南地区新生儿先天性甲状腺功能减低症的发病率较高,开展新生儿疾病筛查工作,有利于该类患儿的早期诊断与治疗,值得推广与完善。     

柳州地区早产儿先天性肾上腺皮质增生症筛查实验cut-off值初探

目的确立柳州地区17-羟孕酮（17-OHP）对早产儿先天性肾上腺皮质增生症筛查的cut-off值。方法新生儿出生72h后采集足跟血,滴于规定滤纸上,采用时间分辨荧光免疫分析法检测17-OHP浓度。结果收集1721例早产儿,正常体质量（≥2500g）早产儿749例,17-OHP浓度的95％、99％分位数值分别为26．4nmol／L、38．1nmol／L;低体质量（〈2500g）早产儿为972例,17-0HP浓度的95％、99％分位数值分别为37．7nmol／L、67．0nmol／L。低体质量早产儿17-0HP浓度与正常体质量早产儿比较,差异有统计学意义（P〈0．01）。正常体质量早产儿17-OHP浓度cut-off值为30．0nmol／L,低体质量早产儿的17-OHP浓度cut-off值为40．0nmol／L。结论早产儿17-OHPcut-off值确定,对先天性肾上腺皮质增生症筛查具有临床意义。     

广西地区新生儿疾病筛查结果回顾性分析

目的：了解2009～2012年广西地区新生儿疾病筛查情况及确诊率。方法通过检测促甲状腺素（TSH）筛查甲状腺功能减低症（CH）、苯丙氨酸（PHe）筛查苯丙酮尿症（PKU）、17-羟孕酮（17-OHP）筛查先天性肾上腺皮质增生症（CAH）、葡萄糖-6-磷酸脱氢酶（G-6-PD）筛查G-6-PD缺乏症,对初次筛查阳性的患儿进行及时召回并确诊。结果2009年1月至2012年12月广西新生儿疾病筛查中心合作单位的新生儿筛查率呈逐年上升趋势且CH、PKU、CAH、G-6-PD初次筛查阳性患儿召回率及确诊率存在差异。结论新生儿筛查可以在早期发现CH、PKU、CAH、G-6-PD缺乏症患儿,对其早期进行干预可以防止其发病从而降低对其智力及生长发育的影响,对提高人口素质有重要意义。     

缺氧缺血性脑病新生儿的行为神经测定与发育筛查

目的 探讨对新生儿缺氧缺血性脑病进行新生儿行为神经测定及发育筛查的临床意义。方法 对60例缺氧缺血性脑病新生儿在出生后12－14天进行新生儿行为神经测定，生后6个月进行发育筛查。结果 中重度缺氧缺血性脑病新生儿及行为神经测定评分低者预后不良。结论 新生儿行为神经测定及发育筛查可为新生儿缺氧缺血性脑病的早期干预提供依据。     

Delayed diagnosis of critical congenital heart defects predicting risk factors and survival rate in newborns in Beijing: a retrospective study

ObjectiveTo assess the prevalence and survival rate of newborns with a delayed diagnosis of critical congenital heart defects (CCHD) in Beijing.MethodsThis retrospective study analysed data from births between 2010 and 2017 from the Birth Defects Monitoring Network in Beijing. Newborns with CCHD were analysed according to seven categories. Statistical analyses were used to calculate the mortality rate within the first week (days 0–6) after live birth. Multivariate logistic regression analysis of survival was performed to analyse the potential risk factors for newborn mortality.ResultsA total of 1 773 935 perinatal newborns were screened in Beijing and 1851 newborns were diagnosed with CCHD, showing a prevalence of 10.43 per 10 000. Among the total 1851 CCHD patients, the majority (1692 of 1851; 91.41%) were identified through prenatal diagnosis, 104 of 1851 (5.62%) were diagnosed before obstetric discharge/transfer and 55 of 1851 (2.97%) were identified through delayed diagnosis. The prevalence of CCHD in newborns was 1.96 per 10 000 births. Multivariate logistic regression analysis of survival demonstrated that gestational age at delivery was the only risk factor for death within the first week after birth.ConclusionsWithin the first week after birth, gestational age was the only risk factor for death in newborns with CCHD.     

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns

Introduction: Digital microfluidics (DMF) is an emerging technology with the appropriate metrics for application to newborn and high-risk screening for inherited metabolic disease and other conditions that benefit from early treatment.

Areas covered: This review traces the development of electrowetting-based DMF technology toward the fulfillment of its promise to provide an inexpensive platform to conduct enzymatic assays and targeted biomarker assays at the bedside. The high-throughput DMF platform, referred to as SEEKER®, was recently authorized by the United States Food and Drug Administration to screen newborns for four lysosomal storage disorders (LSDs) and is deployed in newborn screening programs in the United States. The development of reagents and methods for LSD screening and results from screening centers are reviewed. Preliminary results from a more compact DMF device, to perform disease-specific test panels from small volumes of blood, are also reviewed. Literature for this review was sourced using principal author and subject searches in PubMed.

Expert commentary: Newborn screening is a vital and highly successful public health program. DMF technology adds value to the current testing platforms that will benefit apparently healthy newborns with underlying genetic disorders and infants at-risk for conditions that present with symptoms in the newborn period.     

The development of a screening tool to identify carers in a general practice by a large-scale mailed survey: the experience in one Scottish general practice

Aims and objectives. To determine the feasibility of a screening tool to identify carers in a general practice. Background. The need to support informal carers is well established in policy and practice, but many carers continue to lack the support they need. Identifying carers is a fundamental precondition to providing them with support. Studies often recruit carers who are members of carers’ organizations or via the care recipient in receipt of services. However, as nearly 60% of carers receive no support from the statutory services, this group of carers may not be representative of the majority of carers. This paper describes the results of a study undertaken to identify a broader group of carers in a general practice in a large Scottish city. Design and methods. A quantitative research design was employed using a mailed screening survey to identify carers within a general practice. Carers were systematically identified, independent of the care recipient, using a screening tool developed by the researcher which was sent to all adult patients registered with the practice. Results. The response rate was 69%. Overall, 11% of the surgery population identified themselves as carers with a mean age of 55 years. The carers were involved in a range of caring activities of varying levels and duration. Conclusion. The screening exercise was time consuming and costly. However, it would be feasible and useful to identify carers in smaller groups. Relevance to practice. This study tackles issues that are pertinent to health policy and practice. Carers were systematically identified from a general practice population and included those at an early stage of the caring role, prior to being involved with service providers, as well as those established in their role. If carers are identified early in their caring career the primary health care team is more able to support them proactively.     

Dihydropteridine reductase deficiency in man: from biology to treatment

In 1975, dihydropteridine reductase (DHPR) deficiency was first recognized as a cause of tetrahydrobiopterin (BH(4)) deficiency, leading to hyperphenylalaninemia (HPA) and impaired biogenic amine deficiency. So far, more than 150 patients scattered worldwide have been reported and major progresses have been made in the understanding of physiopathology, screening, diagnosis, treatment, and molecular genetics of this inherited disease. Present knowledge on different aspects of DHPR deficiency, largely derived from authors' personal experience, is traced in this article.     

WBC reduction in RBC concentrates by prestorage filtration: multicenter experience

BACKGROUND: As universal leukocyte (WBC) reduction (ULR) is being considered as a new standard, few data are available on the performance of WBC-reduction filtration in routine practice. The performance of WBC-reduction in RBCs, using varied filtration practices, in meeting the current FDA requirement (<5 x 10(6)), Council of Europe (EC) recommendation, the proposed FDA requirement (<1 x 10(6)), and a more stringent proposal (<5 x 10(5)) for residual WBCs per RBC unit was assessed and compared. STUDY DESIGN AND METHODS: Participating facilities were the 11 sites of the Viral Activation Transfusion Study (VATS), a prospective study of the impact of transfusion with and without WBC-reduction on survival and HIV viral load in HIV-1-infected patients. Patients randomly assigned to undergo WBC reduction were required to receive RBCs < or =14 days old that had undergone prestorage (within 72 hours of collection) WBC-reduction filtration by a method devised to achieve a postfiltration WBC count of <5 x 10(6). Residual WBC quantitation was performed by PCR in the central VATS laboratory by using frozen WBC-reduced RBC samples obtained at issue for transfusion. RESULTS: A total of 1869 WBC-reduced RBC units were studied. Filtration practices varied within and between sites. There were significant differences in mean residual WBC counts at the 11 sites (p<0.001). Among the WBC-reduced RBC units, 0.8 percent exceeded 5 x 10(6) WBCs per unit, 8.3 percent exceeded 1 x 10(6) WBCs per unit, and 14.3 percent exceeded 5 x 10(5) WBCs per unit. CONCLUSION: Residual WBCs in WBC-reduced RBC units vary within and between sites. WBC reduction was successful, in that over 99 percent and 91 percent of VATS WBC-reduced RBC units met US and EC thresholds, respectively. However, the small but measurable failure rate indicates that not every unit will meet these guidelines.     

经口腔前庭腔镜甲状腺切除术6例经验

目的 探讨经口腔前庭腔镜甲状腺切除手术的技术方法,评价该手术入路的安全性和可行性.方法 对6例女性患者施行经口腔前庭3孔法腔镜甲状腺切除术,结节性甲状腺肿5例,其中2例伴囊性变、1例伴腺瘤样增生,甲状腺滤泡性腺瘤1例.观察手术时间、术中出血量、术后住院时间及术后并发症情况.结果 均成功完成手术,无中转开放,手术时间65 min(45～110 min),术中出血量13 mL(5 ～ 30 mL),术后平均住院时间5d(3～8d).术后仅2例刻下皮肤小块淤斑,术后均予口服补充优甲乐.无皮下积液感染,无喉上神经、喉返神经损伤,无甲状旁腺功能低下.所有患者颈部及体表无任何该手术相关疤痕,对美容效果很是满意.结论 中国人下颌骨颏部较扁平,经口腔前庭腔镜甲状腺切除术操作难度不高,手术安全可行,术后美容效果好,值得推广应用.     

Finding solutions through empowerment: a preliminary study of a solution-orientated approach to nursing in acute psychiatric settings

Acute inpatient care is not a therapeutic milieu, perhaps owing to the lack of nursing skills. Solution-focused therapy (SFT) has been successful in US inpatient facilities in relation to both objective and subjective 'measures'. This paper reports a study of SFT in a UK context, with the aim of developing a user-friendly SFT training course and assessing its impact on both nurses and clients, via a multifaceted, triangulated data collection design. Nurses' knowledge and clinical performance were assessed, as was the client's perspective. There was a significant difference in nurses' SFT knowledge after training and strong evidence of the model being used in practice during the course of training, although nursing documentation was not fully completed. Eighty-three per cent of nurses said that they would continue using the model, and clients found the SFT approach helpful. The findings match the US experience of using SFT.     

Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism

BACKGROUND: The definition of the type of thyroid dysgenesis in congenital hypothyroidism (CH), ectopy, or athyreosis is important for monitoring patients and for genetic investigations. We have recently encountered infants who in spite of undetectable Technetium uptake on scintigraphy had biochemical results making athyreosis unlikely. OBJECTIVE: To reevaluate the utility of plasma thyroglobulin (Tg) in this clinical context using new sensitive Tg assays. SUBJECTS AND METHODS: Plasma Tg was retrospectively determined by two immunoassay systems on specimens obtained at diagnosis in 31 hypothyroid infants with thyroid dysgenesis. RESULTS: Scintigraphy led to the diagnosis of ectopy in 19 infants and of athyreosis in 12. Seven (58%) of the infants classified as athyreotic by scintigraphy had detectable plasma Tg (>0.2 microg/l), indicating that they had functional thyroid tissue. CONCLUSIONS: An undetectable plasma Tg should be documented to validate a scintigraphic diagnosis of athyreosis. Conversely, when plasma Tg is undetectable, scintigraphy could be avoided.