注射狂犬疫苗饮酒引起过敏反应一例报告

本文建立了一个用于检测军团菌的多聚酶链反应方法。扩增参考菌株的染色体DNA(L.pneumophital-14、L.micdadei、L.dumoffii Llongbeachae、L.Jordanis、L.bozemanii)，均可检出375bp的16SrRNA基因片段。对于已经监定的5株国内分离菌株染色体DNA进行扩增，获得了相同的结果，地高辛标记16SrRNA基因探针与扩增产物杂交，结果为阳性。而扩增14株非军团菌均为阴性。采用煮沸法制备细菌染色体DNA,PCR法检测环境水军团菌敏感性为280cfu/ml水，检查临床标本军团菌为560cfu/ml支气管灌洗液。上述结果表明该法敏感、快速、简便，具有较好的特异性。     

Maximum principle for optimal control of anticipated forward–backward stochastic differential delayed systems with regime switching

This paper is concerned with a Pontryagin maximum principle for optimal control problem of stochastic system, which is described by an anticipated forward–backward stochastic differential delayed equation and modulated by a continuous‐time finite‐state Markov chain. We establish a necessary maximum principle and sufficient verification theorem for the optimal control by virtue of the duality method and convex analysis. To illustrate the theoretical results, we apply them to a recursive utility investment‐consumption problem, and the optimal consumption rate is derived explicitly. Copyright © 2015 John Wiley & Sons, Ltd.     

红杆菌YIM93620和台湾红杆菌BCRC17173培养基优化及~(12)C~(6+)重离子生物学效应研究

目的缩短红杆菌(Rubrobacter sp.)YIM93620和台湾红杆菌(Rubrobacter taiwanensis)BCRC17173培养时间,加快试验进度,更方便研究其耐辐射水平;确定这两株菌对重离子照射后的生物学效应,为航天辐射防护提供理论支持。方法比较这两株菌在TSB、CYC、Thermus、ISP2这四种培养基上的生长情况,并测定添加不同浓度的丙酮酸钠和甜菜碱对生长的促进情况;选E.coli K-12作为阴性对照,分别对这两株菌进行不同剂量的~(12)C~(6+)重离子照射,并绘制致死率曲线研究生物学效应。结果 YIM93620和BCRC17173在Thermus培养基中生长状态最好;分别在添加0.125%甜菜碱和0.1%丙酮酸钠的Thermus培养基中培养时间从10~15 d缩短到6 d;YIM93620在160 Gy时达到最高致死率93.3%,而BCRC17173在320 Gy时致死率仅35.7%,对~(12)C~(6+)重离子都具有强的抗性。结论筛选到这2株菌生长状态都较好的培养基Thermus,添加0.125%甜菜碱和0.1%丙酮酸钠分别可显著促进菌株YIM93620和BCRC17173的生长;这两株菌均有强的耐~(12)C~(6+)重离子辐射特性。     

Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan

Background/objectivesThe UBR1 gene encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. Loss-of-function mutations in the UBR1 gene cause Johanson-Blizzard syndrome, which involves pancreatic exocrine insufficiency. No previous studies have examined an association of UBR1 variants with pancreatitis, in part due to the large size of the gene. This study aimed to clarify whether UBR1 variants are associated with chronic pancreatitis (CP) by the application of targeted next generation sequencing.MethodsExon sequences of the UBR1 gene from 389 Japanese patients with CP (188 idiopathic, 172 alcoholic, 20 hereditary, 9 familial) were captured by the HaloPlex target enrichment technology and subjected to next generation sequencing.ResultsNinety nine point two % of the coding regions of the UBR1 gene could be sequenced by ≥ 20 reads with a mean read depth of 595 and a median depth of 399. Fifteen non-synonymous variants including three novel ones [c.4514T > C (p.I1505T), c.4828C > G (p.H1610D) and c.4856A > T (p.D1619V)] and two synonymous variants were identified in the exonic regions. The frequency of any non-synonymous or synonymous variants was not different between the patients with CP and controls.ConclusionsVariants in the UBR1 gene were not associated with CP in Japan.     

Preimplantation genetic diagnosis: an update on current technologies and ethical considerations

The aim of reproductive medicine is to support the birth of healthy children. Advances in assisted reproductive technologies and genetic analysis have led to the introduction of preimplantation genetic diagnosis (PGD) for embryos. Indications for PGD have been a major topic in the fields of ethics and law. Concerns vary by nation, religion, population, and segment, and the continued rapid development of new technologies. In contrast to the ethical augment, technology has been developing at an excessively rapid speed. The most significant recent technological development provides the ability to perform whole genome amplification and sequencing of single embryonic cells by microarray or next‐generation sequencing methods. As new affordable technologies are introduced, patients are presented with a growing variety of PGD options. Simultaneously, the ethical guidelines for the indications for testing and handling of genetic information must also rapidly correspond to the changes.     

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo‐obstruction in a neonate

A female infant born at 36 weeks gestational age with birthweight 2135 g, and who developed respiratory disorder, hyperlactacidemia and hypertrophic cardiomyopathy after birth, was admitted to hospital at 3 days of age. After admission, bilious emesis, abdominal distention, and passage disorder of the gastrointestinal tract were resistant to various drugs. Exploratory laparotomy was performed at 93 days of age, but no organic lesions were identified and normal Meissner/Auerbach nerve plexus was confirmed, which led to a clinical diagnosis of chronic intestinal pseudo‐obstruction (CIPO). She was diagnosed with mitochondrial respiratory chain complex IV deficiency on histopathology of the abdominal rectus muscle and enzyme activity measurement. This is the first report of a neonate with mitochondrial respiratory chain complex deficiency with intractable CIPO. CIPO can occur in neonates with mitochondrial respiratory chain disorder, necessitating differential diagnosis from Hirschsprung disease.     

Prenatal diagnosis of Gaucher disease using next‐generation sequencing

In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next‐generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[‐20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD‐related mutations. NGS may facilitate early detection and treatment before disease onset.     

Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms

We report the case of a 13‐month‐old girl with frequent vomiting, intractable diarrhea, hyperlactatemia, and liver dysfunction. Although the symptoms were treatment resistant, enteral nutrition formula containing medium‐chain triglycerides reduced the weight loss, vomiting, and diarrhea. Immunostaining of mitochondrial respiratory chain (MRC) complexes of the colonic mucosa confirmed the diagnosis of MRC complex I deficiency. This case shows that this disease should be included in the differential diagnosis of hyperlactatemia and intractable, cryptogenic gastrointestinal symptoms. In addition, the mucosa of the affected gastrointestinal organ should be analyzed on immunostaining or electron microscopy for MRC complexes.