上海部分地区新生儿苯丙酮尿症筛查14年临床总结

从１９８１年１０月至１９９５年１２月，我室对在上海部分医院出生的６０万新生儿进行了苯丙酮尿症（ＰＫＵ）的筛查，共查出３５个阳性病例，发病率为１／１７１７８（３５／６０１２１８）。３３例确诊为经典型ＰＫＵ，另２例确诊为四氢生物喋呤缺乏症（ＢＨ＿４ｄｅｆｉｃｉｅｎｃｙ）．所有ＰＫＵ患者（除１例外）均在生后３２±１６天开始接受低苯丙氨酸奶方的治疗，取得了显著的疗效．在对本组ＰＫＵ患儿的随访中发现，绝大部分患儿２岁以前的血苯丙氨酸（ｐｈｅｎｙｌａｌａｎｉｎｅ，Ｐｈｅ）浓度控制在较理想的范围内（４－１０ｍｇ／ｄｌ），智商正常；２岁以后其血苯丙氨酸浓度常常超过１０ｍｇ／ｄｌ，智商明显下降。作者对比作了分析并就完善ＰＫＵ筛查阳性病例的临床管理作了初步探讨。     

Routine use of CANTAB system for detection of neuropsychological deficits in patients with PKU

Several studies have reported neuropsychological deficits related to hyper phenylalaninemia in patients with phenylketonuria (PKU). As computerized neuropsychological tests seem to be promising in the detection of such abnormalities, we aimed to assess the usefulness of routine use of CANTAB system in PKU clinic. A group of 49 PKU patients aged >16 years were tested by means of computerized CANTAB tests measuring speed of response, response inhibition, sustained attention, and working memory capacity. The scores achieved by study participants were analyzed with respect to their blood phenylalanine concentrations. Proper dietary control was observed in 22 patients, whereas in the remaining 27 persons, blood phenylalanine concentrations exceeded the recommended range. The results of the tests assessing sustained attention, working memory, and inhibitory control achieved by the non-compliant patients were significantly worse in comparison with patients maintaining proper diet. However, the mean scores achieved by treatment-adherent patients were also worse than expected, what could probably be related to problems with early start of treatment during their infancy. Our results confirmed the presence of specific neuropsychological deficits related to hyperphenylalaninemia in adults and adolescents with PKU. In our opinion, routine use of computerized neuropsychological tests should be recommended in PKU clinics.     

Neonatal screening for phenylketonuria and hypothyroidism in France. A 12-year experience

The authors report their experience in the systematic, co-ordinated and controlled neonatal screening in France: a coverage of approximately 100 per cent for several years, nearly 13 millions of tests for phenylketonuria and more than 7 millions for hypothyroidism, almost 850 phenylketonuric children and more than 1,600 patients with hypothyroidism, screened and taken care of. The frequency of phenylketonuria is estimated at 1 for 16,394 and the frequency of hypothyroidism at 1 for 4,041. They insist on the need for a strict investigation of false negatives and point out a few specific points on the care of affected children. Overall, the assessment of neonatal screening is positive since it has allowed 2,500 children, doomed to mental retardation, to have a normal growth.     

天津地区已婚群体苯丙酮尿症杂合子筛查

目的　寻找一种筛查苯丙酮尿症(phenylketonuria,PKU)杂合子的可靠易行方法。方法　用反相高效液相色谱快速检测血浆苯丙氨酸和酪氨酸实验方法,对101余例已知PKU杂合子和2023名已婚群体分别进行检测和统计分析。结果　已知PKU杂合子的Phe浓度、Phe/Tyr和Phe     

新疆地区40216例新生儿苯丙酮尿症筛查结果分析

目的探讨新疆地区新生儿苯丙酮尿症（pheny1ketonuria,PKU）的发病情况,以便做到早确诊、早治疗。方法用荧光法检测滤纸干血斑苯丙氨酸浓度。根据血苯丙氨酸浓度确诊PKU,确诊患儿给予低苯丙氨酸饮食治疗,定期查患儿血苯丙氨酸浓度,并对患儿治疗跟踪随访。结果自2003年1月至2010年10月共筛查40 216例新生儿,确诊17例,检出率为1/2366,明显高于全国平均水平。结论新生儿苯丙酮尿症的筛查和治疗,是减少出生缺陷,提高人口素质的重要措施。     

A shortened MMPI useful for psychiatric screening of the non-institutionalized elderly

We compared the reliability of the Faschingbauer Abbreviated MMPI (the FAM) to the standard MMPI with a sample of non-institutionalized, independently living elderly individuals. FAM items were extracted from the standard MMPIs of 83 middle-class men and women with a mean age of 74 years. Results indicate that the FAM is correlated highly with the MMPI. Although statistically significant differences were found between the FAM and MMPI forms on some scales, 77% of the profile pairs were judged to satisfy interpretive reliability criteria, and for the profiles that were rejected the FAM was not found to overestimate or underestimate any MMPI scale systematically. The potential value of the FAM as a screening device for elderly individuals who are living in the community is addressed.     

Preimplantation genetic screening: a survey of in vitro fertilization clinics

PurposeThe purpose of this study was to determine which US in vitro fertilization clinics provide preimplantation genetic screening for aneuploidy in treating infertility, and to explore clinic directors' attitudes toward this technique.MethodsOnline survey included 415 US assisted reproductive technology clinics. The survey had a valid response rate of 45% or 186 clinics.ResultsNearly 68% of US in vitro fertilization clinics responding to the survey provided preimplantation genetic screening in an effort to increase success rates of fertility treatment. More than half of these in vitro fertilization clinics (56%) provided preimplantation genetic screening for advanced maternal age and the same percentage provided preimplantation genetic screening to treat repeated in vitro fertilization failure, whereas 66% provided preimplantation genetic screening to treat women with repeated miscarriage. Opinions of the effectiveness of preimplantation genetic screening for these indications varied widely, even among those providing it. Most directors (85%) of clinics providing preimplantation genetic screening believed that more data are needed to determine whether and to whom it should be offered.ConclusionsDespite the lack of data supporting the use of preimplantation genetic screening for recurrent pregnancy loss, in vitro fertilization failure, and advanced maternal age, a majority of in vitro fertilization clinics in the United States offer preimplantation genetic screening for these purposes. There is significant support among clinic directors for more research into the effectiveness of preimplantation genetic screening and for professional guidelines in this area.     

Clinical determinants of involuntary psychiatric hospitalization: A clinical profile approach

Objectives

The study examines the clinical determinants of involuntary psychiatric hospitalization. Specifically, it investigates whether distinct clinical profiles of hospitalized patients can be discerned, what other characteristics they are linked with, and which profiles predict involuntary admission.

Methods

In this cross-sectional multicentre population study, data were collected for 1067 consecutive admissions in all public psychiatric clinics of Thessaloniki, Greece, during 12 months. Through Latent Class Analysis distinct patient clinical profiles were established based on Health of the Nation Outcome Scales ratings. The profiles were then correlated with sociodemographic, other clinical, and treatment-related factors as covariates and admission status as a distal outcome.

Results

Three profiles emerged. The “Disorganized Psychotic Symptoms” profile, combining positive psychotic symptomatology and disorganization, included mainly men, with previous involuntary hospitalizations and poor contact with mental health services and adherence to medication, indicating a deteriorating condition and chronic course. Τhe “Active Psychotic Symptoms” profile included younger persons with positive psychotic symptomatology in the context of normal functioning. The “Depressive Symptoms” profile, characterized by depressed mood coupled with nonaccidental self-injury, included mainly older women in regular contact with mental health professionals and treatment. The first two profiles were associated with involuntary admission and the third with voluntary admission.

Conclusions

Identifying patient profiles allows the examination of the combined effect of clinical, sociodemographic, and treatment-related characteristics as risk factors for involuntary hospitalization, moving beyond the variable-centered approach mainly adopted to date. The identification of two profiles associated with involuntary admission necessitates the development of interventions tailored to chronic patients and younger persons suffering from psychosis respectively.     

多元化联合教学模式在超声引导下疼痛介入治疗中的应用

目的探讨多元化联合教学模式在超声引导下疼痛介入治疗教学中的应用效果。方法选择2018年1月至2020年12月在北京大学第三医院疼痛科进修的30名医师作为研究对象,将其分为对照组与观察组;对照组采用常规教学模式;观察组采用多元化联合教学模式,比较两组医师技能考核成绩、教学质量评分和满意度评分。结果观察组医师技能考核成绩优良率为93.3%,高于对照组的73.3%(P<0.05);观察组医师对基础理论知识掌握、临床思维能力的提高、学习兴趣的激发、疾病诊治能力的提高4个方面的评分均高于对照组(P<0.01)。结论多元化联合教学模式可促进超声引导下疼痛介入治疗技能的提高,有利于提高学员的综合临床能力。     

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

Phenylketonuria (PKU) is an autosomal recessive genetic disordercaused by phenylalanine hydroxylase (PAH) deficiency. Individualsafflicted with PKU develop irreversible mental retardation thatcan be largely prevented by the administration of a low-phenylalanlnediet. A number of restriction fragment-length polymorphisms(RFLPs) have been identified in the PAH gene. Combinations ofRFLPs constitute unique haplotypes that can be used to identifymutant PAH chromosomes for prenatal diagnostic purpose in PKUfamilies. Unfortunately, the utility of haplotype analysis islimited in populations with a single predominant haplotype.We have Identified a novel short tandem repeat (STR) withinthe PAH gene that has an average level of heterozygosity ofabout 75% in Orlentals and about 80% in European Caucasian populations.This single marker is as informative as haplotype analysis inEuropeans and nearly twice as informative as haplotype analysisIn Orientals. Although there Is statistically significant disequilibriumbetween STR alleles and RFLP-based haplotypes, there is a relativelylow degree of disequilibrium between STR alleles and certainRFLP sites. Nevertheless, the combined use of the FR and RFLPhaplotype systems increases the informativity of linkage-basedtests for prenatal diagnosis and carrier screening in PKU families.     

Routine screening for depression and quality of life in outpatients with congestive heart failure

The influence of depression and perceived quality of life (QoL) on symptom perception and prognosis in congestive heart failure is well known. The authors therefore introduced routine questionnaire screening for these parameters in patients attending their outpatient heart failure clinic (N=320). The authors found QoL to be significantly reduced, and almost every third patient screened positive for a depressive disorder. These patients got a clearly-defined treatment offer. The present study demonstrates that screening for depression and QoL is feasible without being too complex or time-consuming and easily implementable in an interdisciplinary outpatient setting.     

A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy

Background  

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder with monogenic mutations setting the stage for successful gene therapy treatment. We have completed a study that directly deals with the following key issues that can be directly adapted to a gene therapy clinical trial using rAAV considering the following criteria: 1) A regional vascular delivery approach that will protect the patient from widespread dissemination of virus; 2) an approach to potentially facilitate safe passage of the virus for efficient skeletal muscle transduction; 3) the use of viral doses to accommodate current limitations imposed by vector production methods; 4) and at the same time, achieve a clinically meaningful outcome by transducing multiple muscles in the lower limb to prolong ambulation.     

Screening for psychiatric illness in general practice: the general practitioner versus the screening questionnaire

This study compares the characteristics of general practitioners and a pen and paper test in the detection of psychiatric disorder in primary care settings. A psychiatrist interviewed a stratified sample of 283 patients drawn from 590 consecutive new illnesses seen in 15 general practices. Research diagnoses could be made in between one-quarter and one-third of the consecutive new illnesses. Two different research diagnostic systems agreed quite well with one another about who should be regarded as a psychiatric 'case' - although agreement between them for individual diagnoses was less impressive. Research diagnoses of psychiatric illnesses could be made in approximately 30% of new episodes of illnesses seen. If the DSM-3 system was used as a criterion of 'caseness', the specificity of the general health questionnaire was 75.4%, and the sensitivity was 87.1%. The general practitioners had fewer false positives than the questionnaire, but they were much more likely to miss psychiatric cases. Use of the general health questionnaire could increase their sensitivity from about 50% to 95%.