耐碳青霉烯类药物肺炎克雷伯菌β-内酰胺酶与膜孔蛋白编码基因以及KPC-ISKpn6连锁检测

目的 探讨耐碳青霉烯类药物肺炎克雷伯菌的耐药机制.方法 对南京地区两家三甲综合性医院的耐碳青霉烯抗菌药物肺炎克雷伯菌临床分离株,采用PCR方法对其40种β-内酰胺酶基因、膜孔蛋白编码基因及KPC-ISKpn6连锁进行检测,PCR阳性产物进行测序,测序结果BLAST对比分析.结果 24株耐碳青霉烯类药物肺炎克雷伯菌的A类β-内酰胺酶编码基因TEM-1及SHV的阳性检出率为100％ (24/24)、KPC-2的阳性检出率为95.8％ (23/24)、LAP-2的阳性检出率为45.8％ (11/24),C类β-内酰胺酶编码基因DHA的阳性检出率为4.2％ (1/24),KPC-ISKpn6连锁检测阳性率为95.8％ (23/24),膜孔蛋白编码基因ompK35与ompK36的突变率分别为95.8％ (23/24)及100％(24/24).结论 本组肺炎克雷伯菌β-内酰胺酶TEM-1、SHV、KPC-2、LAP-2的携带率较高,其中KPC-2的高携带率及膜孔蛋白编码基因ompK35、ompK36的高突变率是本组肺炎克雷伯菌对碳青霉烯类抗菌药物耐药的主要机制;插入序列ISKpn6可能参与了KPC-2基因的介导.     

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same 3 or 1.5 Mb region, with breakpoints at LCR A and D or at LCR A and B, respectively. We report on a patient with clinical features of the 22q deletion syndrome who presents a novel, atypical deletion, smaller than 1.5 Mb, with distal breakpoint in LCR B and proximal breakpoint within no known LCR site.     

The effects of graft size and insertion site location during anterior cruciate ligament reconstruction on intercondylar notch impingement

Background

Intercondylar notch impingement is detrimental to the anterior cruciate ligament (ACL). Notchplasty is a preventative remodeling procedure performed on the intercondylar notch during ACL reconstruction (ACLR). This study investigates how ACL graft geometry and both tibial and femoral insertion site location may affect ACL-intercondylar notch interactions post ACLR. A range of ACL graft sizes are reported during ACLR, from six millimeters to 11 mm in diameter. Variability of three millimeters in ACL insertion site location is reported during ACLR. This study aims to determine the post-operative effects of minor variations in graft size and insertion location on intercondylar notch impingement.

弱精子症病人精子线粒体DNA4977—bp缺失研究

本文采用聚合酶链反应（ＰＣＲ） 技术对４１ 例标本,其中２０ 例弱精子症病人和２１ 例精子活力正常人进行了精子线粒体ＤＮＡ（ｍｔＤＮＡ）缺失的研究。结果发现２０ 例弱精子症病人中１８ 例有缺失,而２１ 例精子活力正常人中仅有两例有缺失。说明线粒体ＤＮＡ４９７７ｂｐ 缺失在弱精子症的发病中起重要作用。     

应用MLPA技术进行3例猫叫综合征的分子遗传学分析

目的通过应用多重连接依赖式探针扩增（MLPA）技术对3例猫叫综合征（CDCS,5p缺失综合征）进行分析,旨在探索可快速诊断CDCS的分子遗传学方法。方法对3个CDCS患者及其父母、患者1的异卵双生之姐姐,进行MLPA分析,检测CDCS关键区域5p15．33：包括hTERT基因在内的9个位点的基因拷贝数的变化;同时,对相应标本进行染色体G-显带核型分析。结果在接到标本24—48h,MLPA示：3例患儿均存在CDCS关键区域5p15．33包含hTERT在内的基因缺失,其父母及患者1异卵双生之姐姐未见缺失。7—10天后G显带染色体核型分析示：患儿2、3为单纯5号短臂（5p）末端缺失,其父母正常;患儿1病例在国内尚属少见,核型为：45,XY,-22,-5p,4-der（5）t（5;22）,携带了一条源于5p和22p易位而来衍生的5号染色体,其父母及异卵双生之姐姐均正常。MLPA与核型分析结果-致：3例患儿均为CDCS患者。结论MLPA是-种可快速诊断CDCS的分子遗传学方法,具有临床应用价值。     

Association of essential hypertension in elderly Japanese with I/D polymorphism of the angiotensin-converting enzyme (ACE) gene

Recent evidence suggests that an insertion/deletion (I/D) polymorphism of the gene encoding angiotensin-converting enzyme (ACE) is associated with myocardial infarction and related cardiovascular diseases. We investigated a possible association of the ACE polymorphism with essential hypertension in a total of 263 cases/controls from among the elderly (age, over 70 years) and middle-aged (age between 30 and 60 years) Japanese population. The frequency of the I/I homozygote was significantly higher in hypertensive subjects than in controls in the elderly age group (33/57 vs 16/46; P = 0.02), but no association was observed in the middle-aged group (25/75 vs 26/85; P = 0.71). Similarly, having at least one insertion allele was associated with essential hypertension in the elderly age group (83/114 vs 46/92 in controls; P = 0.001), but not in the middle-aged group (78/150 vs 94/170; P = 0.524). These data suggest that genetic variation at the ACE locus may be associated with some determinants for blood pressure in elderly persons, and imply the involvement of the ACE insertion/deletion polymorphism in the etiology of age-related essential hypertension in the Japanese population. Received: April 18, 2000 / Accepted: July 25, 2000     

Incidental discovery of two levonorgestrel-releasing intrauterine systems misplaced in the peritoneal cavity

Objectives?To present a rare case of the incidental discovery of two misplaced intrauterine devices in the same patient, and to discuss risk factors for uterine perforation and appropriate management.

Case?A 37-year-old woman complaining of chronic lower back pain presented with an X-ray of her abdomen showing two misplaced LNG-IUSs in the peritoneal cavity. More than two years before the patient had submitted within two months to two successive attempts at insertion of a Mirena® IUS. The threads of the first IUS were not seen at the follow-up visit and the IUS was not detected on ultrasound either. As it was assumed to have been expelled, insertion of a second IUS of the same type was attempted. Again, the threads were not seen at the control visit. This time, no further action was undertaken.

Conclusions?Radiography is helpful in confirming migration of an intrauterine contraceptive. Removal of the latter is recommended, due to the potential for serious complications.     

A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency

Background

Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.

Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies arises as a result of defects at the chromosome 17p11.2-12 locus and in 84% of cases a 1.5 Mb deletion containing the PMP22 gene is detected by analysis that utilises polymorphic (CA)_n repeat markers which flank this gene. We report the clinical and electrophysiological findings observed in a kindred with three members affected by HNPP due to a deletion containing exons 4 and 5 of the PMP22 gene. This small deletion cannot be detected using standard analysis with polymorphic (CA)_n repeat markers and a definitive diagnosis was made by multiplex ligation-dependent probe analysis of PMP22 exons 1A-5. MLPA can be readily utilised as a routine diagnostic laboratory test to detect the common HNPP 1.5 Mb deletion, as well as the reciprocal 1.5 Mb insertion observed in CMT1A, but has the advantage over other diagnostic techniques of being able to define single exon deletions.     

假肥大型肌营养不良症患者及携带者的致病基因突变检测

目的 检测假肥大型肌营养不良症患者及携带者的dystrophin基因致病突变类型,为防止假肥大型肌营养不良症的再发提供信息.方法 利用多重引物连接依赖式扩增技术和变性高效液相色谱技术检测临床研究发现的20例假肥大型肌营养不良症患者的DMD基因突变.结果 缺失突变10例,重复突变1例,终止密码子突变4例,5例未发现致病突变.结论 通过致病突变的检测可以为防止患者家庭假肥大型肌营养不良症的再发提供优生优育指导.