不同类型腹膜透析导管临床应用体会

目的观察不同类型腹膜透析导管的近期并发症的发生率情况及防治体会。方法68例终末期肾衰竭行维持性腹膜透析治疗患者分为两组。组1：28例患者采用Tenckhoff曲管;组2：40例患者采用鹅颈直管。两组患者随访时间均大于6个月。观察两组患者的腹膜透析液引流速度、隧道感染、出口感染、导管移位、腹膜透析液渗漏等发生情况。结果两组患者腹膜透析液引流速度的隧道感染率和出口感染率无差别（P〉0.05）.Tenckhoff管组5例患者出现导管移位（17.8%）,而swan-neck导管组仅2例（5%）,两组相比有显著性差异（P〈0.05）。进一步分析发现前组患者漂管发生于第一周3例（60%）,第二周2例（40%）,而鹅颈直管发生漂管多于1周内。另外鹅颈直管组有3例患者于术后第一周出现引流不畅,拔管时发现导管内均有大量蛋白凝块阻塞。结论不同类型导管各有优缺点,鹅颈直管的导管移位率明显低于Tenckhoff导管,但易发生透析液引流不畅,而Tenckhoff导管不容易发生堵管。在置管过程中调整swan-neck腹膜透析管外段与腹正中线的角度后能明显改观引流速度。改观     

多发性内分泌腺瘤病2A型家系临床特点分析及RET基因突变研究

目的检测互不相关的3个多发性内分泌腺瘤病2A型（MEN2A）家系中RET原癌基因突变情况，以探寻其发病的分子机制，同时总结其临床特点。方法收集3个MEN2A家系，共有8例MEN2A患者，3个家系有28位同意进行基因检测，提取28位外周血基因组DNA，对RET原癌基因21个外显子进行聚合酶链反应（PCR），PCR产物进行直接测序，对发现新的突变点进一步进行克隆测序。结果家系1RET原癌基因存在外显子11的C634R突变，家系2为C634Y突变，家系3的4例MEN2A患者均存在D631密码子（GAC）的杂合缺失，碱基序列由TGC∧GACGAGCTG变为TGCGAGCTG，导致代表天冬氨酸的D631的缺失，即del D631。8例MEN2A患者中7例有MTC（87．5％），8例有PCC（100％），未发现有HPT的发生，其中6例（75％）患者是以PCC起病，而且PCC中7例（87．5％）为双侧。结论本研究结果提示中国大陆MEN2A家系存在C634Y突变，也有exon11的D631杂合缺失突变，其中RET基因第11号外显子的D631缺失突变（delD631）是首例报道。D631 del临床特点为发病年龄较迟，肾上腺嗜铬细胞瘤可先于甲状腺髓样癌的发生。     

IS256与医院感染表皮葡萄球菌耐氨基糖苷类抗菌药物的关系

目的了解医院感染表皮葡萄球菌对不同类型氨基糖苷类抗菌药物的敏感特征，分析插入序列（IS）256与表皮葡萄球菌耐氨基糖苷类抗菌药物的关系。方法收集2007年2月至2007年7月外科病区中引起医院感染的表皮葡萄球菌48株，利用纸片扩散法测定细菌对4种氨基糖苷类抗菌药物（庆大霉素、奈替米星、链霉素和阿米卡星）药敏特征；构建IS256特异性引物，利用聚合酶链反应（PCR）检测48株细菌中IS256分布状况。结果48株临床分离的表皮葡萄球菌对4种氨基糖苷类抗菌药物的药敏特征分别为：对庆大霉素的耐药率为69％，敏感率为31％；对奈替米星的耐药率为8％，敏感率为79％，中介率为13％；对链霉素的耐药率为42％，敏感率为35％，中介率为23％；对阿米卡星的耐药率为15％，敏感率为75％，中介率为10％。全部临床分离株中，有25株细菌检出IS256。在庆大霉素耐药菌株中，IS256检出率高达70％，与敏感菌相比差异具有统计学意义（P〈0．01）；而对其他3种抗菌药物耐药的菌株中，IS256的检出与耐药无明显相关性（P〉0．05）。结论表皮葡萄球菌临床分离株对氨基糖苷类抗菌药物存在不同程度耐药。IS256与表皮葡萄球菌对庆大霉素耐药密切相关。     

Prevalence of extended-spectrum beta-lactamases in Proteus mirabilis in a Taiwanese university hospital, 1999 to 2005: identification of a novel CTX-M enzyme (CTX-M-66)

A total of 1574 nonduplicate Proteus mirabilis isolates collected at a Taiwanese hospital during 1999 to 2005 were analyzed for production of extended-spectrum beta-lactamases (ESBLs). Forty-four ESBL-producing isolates including 22 CTX-M-14, 18 CTX-M-3, 2 CTX-M-24, and 2 CTX-M-66 producers were detected, and the proportion of ESBL producers increased from 0.7% in 1999 to approximately 6% after 2002. CTX-M-66 is a novel variant of CTX-M ESBLs that differs from CTX-M-3 by a Ser to Asn change at amino acid position 23. Coresistances to aminoglycosides and ciprofloxacin were very common in the CTX-M-3 producers. The presence of ArmA-type or RmtB-type 16S rRNA methylase that confers high-level aminoglycoside resistance was detected in 12 CTX-M-3 producers and 4 CTX-M-14 producers. Twenty-four clones including an endemic CTX-M-14-producing clone were observed among the 44 ESBL producers by pulsed-field gel electrophoresis, suggesting that both horizontal transfer and clonal spread contributed to the increased prevalence of bla(CTX-M) in P. mirabilis.     

IS6110-限制性片段长度多态性DNA分型在结核分子流行病学研究中的应用

目的 建立宁夏、北京和上海等地结核分支杆菌发离株IS6110－RFLP DNA指纹图谱，观察其流行病学特征。方法 提取结核分支杆菌基因组DNA，经限制性内切酶PvuⅡ切割、琼脂糖凝胶电泳和Southern转印后，用荧光标记的IS6110DNA序列中245bp探针杂交，以核酸化学发光试剂盒探测荧光信号，比较各菌株指 IS6110拷贝数和带型，分析不同地理区域流行菌株的特点。结果 103例结核患的临床分离株，经245bp探针杂交后的指纹图谱显示大部分菌株含8－21个IS6110拷贝，在宁夏和北京地区流行的结核分支杆菌带型具有共同特点，并有成簇分布的现象，在上海分离株中发现1株零拷贝株和1株单拷贝株。结论 IS6110－RFLP DNA分型方法可用于我国流行的结核分支杆菌分子流行病学研究；宁夏分离株与北京分离株在基因上亲缘关系较相近。     

Multiple Granulocytic Sarcomas in Essential Thrombocythemia

A 59-year-old woman was diagnosed with essential thrombocythemia in 1988 and had been treated with hydroxyurea, mitobronitol, busulfan, and ranimustine, in that order. Hepatosplenomegaly, low-grade fever, and body weight loss manifested, and a few blasts were noted in the peripheral blood studied in March 2002. A biopsied specimen of the bone marrow showed myelofibrosis but not a leukemia in August 2004. An abnormal karyotype with der(1; 13) appeared for the first time. She was treated with low-dose prednisolone. In January 2005, she experienced left hip joint pain, and magnetic resonance scanning showed a tumoral lesion in the femoral head. Histological diagnosis of the biopsied mass revealed that it was a granulocytic sarcoma, and radiotherapy was performed. In April 2005, bone scintigraphy showed multiple lesions. She became febrile and red blood cell transfusion-dependent with hepatosplenomegaly and a small number of circulating blasts. Intravenous cytarabine (low dose) and etoposide relieved the fever and hepatosplenomegaly; however, she developed a pathologic fracture of the right humerus. An additional karyotypic abnormality (7q22 deletion) was noted. She subsequently died of infection. Granulocytic sarcoma is very rare in essential thrombocythemia, and this patient may be the first reported case of essential thrombocythemia that developed multiple lesions and a pathologic fracture without transformation to overt leukemia.     

Comparison of the primary stability of orthodontic miniscrews after repeated insertion cycles:: An in vitro study

ObjectivesTo compare the primary stability of miniscrews after repeated cycles of insertion through insertion torque (IT) measurements and resonance frequency analysis (RFA).Materials and MethodsSixty titanium miniscrews were divided into two groups according to the insertion protocol: one with predrilled sites and the other self-drilled into porcine iliac crest bone specimens. Each group had three cycles of reinsertion. After each insertion, the IT and RFA were measured. The IT was measured by using a torque meter, and the RFA was measured using the Osstell ISQ device. A total of five miniscrews of each group were selected for sequential assessment of the morphology of their tip and threads using scanning electron microscopy after each insertion cycle.ResultsNo statistically significant differences were found in the IT values of miniscrews reinserted up to three times in the group with predrilled surgical sites. The IT value increased significantly with the number of reinsertions in the self-drilled group. The RFA value decreased as the number of insertions increased in both groups.ConclusionsUnder the conditions of this in vitro study, reinserting miniscrews deteriorates the integrity of their tip and thread. Reinsertion should be discouraged particularly when insertion sites are not predrilled.     

Chromosome 20 deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions

Deletion of the long arm of chromosome 20 is a recurrent abnormality observed in myelodysplastic syndromes (MDS) and in Philadelphia-chromosome-negative myeloproliferative disorders (MPD). Our objective was to characterize the deletion size among 38 MDS and MPD patients using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes and to define commonly deleted and retained regions on chromosome 20. Patients were distributed in three groups according to the World Health Organization classification: MDS (22 patients), MPD (12 patients) and myelodysplastic/myeloproliferative diseases (four patients). FISH with centromeric, subtelomeric, and unique sequence probes was performed to characterize the deletion whereas its size was delineated using BAC clones. All 38 deletions were found to be interstitial. A commonly deleted region was identified for each of the three groups; it varied from 6.62 to 10.4 Mb and showed considerable overlapping. Two commonly retained regions (CRR), also showing overlapping, were identified in all three groups, one in the centromeric region, the other in the telomeric region. The deletion size is highly variable, with no apparent recurrent breakpoint. The deletion may result in the loss of one or several tumor suppressor genes but the target genes remain unknown. Loss of genes plays an important part in the myeloid leukemic process associated with del(20q). However, genes located in the retained chromosomal regions may also play a role in the oncogenetic mechanisms. Nathalie Douet-Guilbert and Audrey Basinko contributed equally to the study.     

Hospitalisation soin-études à l’adolescence : analyse des facteurs prédictifs de bonne évolution

Interest

The Dupré clinic of Sceaux is a “care and study” center, which has developed a multidimensional program including medical care, institutional psychotherapy and school studies for adolescents and young adults aged 16 to 25 suffering from severe psychiatric disorder, social impairment and/or school drop-out. To our knowledge, there are very few studies that have been conducted on the patient's clinical characteristics and the specific cares that can influence outcomes.

Method

We studied a sample of 55 patients treated at the Dupré clinic between 2007 and 2012 (mean duration of hospitalization = 570 days; mean admission Global Assessment of Functioning Scale (GAF) score = 43.6). GAF scores at time of admission and at time of discharge, other relevant clinical and socio-demographic characteristics of the patients and the specific cares received during hospitalization were collected. Most of the patients had a diagnosis of psychotic disorder (28%), personality disorder (25%) or eating disorder (23%).

Results

Sixty percent of these patients were considered as “good responders” (i.e., an increase in GAF scores ≥ 25%) and the others (40%) were considered as “poor responders”. Adolescents who participated in a specific care focusing on the professional integration were more likely to be good responder (75% versus 44% among adolescents who did not participate in this specific care, P = 0.023).

Conclusion

Given the limitations of our study (small sample, observational study), the potential interests of specific cares focusing on the professional integration of adolescents in “care and study” center should be further studied.     

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

Deficiency of apoprotein A-V (apoA-V) can cause hypertriglyceridemia. In an 11 months old boy presenting with a severe hypertriglyceridemia, a formerly unknown 24 nucleotide deletion in exon 2 of the APOA5 gene was detected. The homozygous mutation results in an eight amino acid loss in the signal peptide sequence (c.16_39del; p.Ala6_Ala13del). Screening of control persons proved that this deletion is a rare mutation. Hypertriglyceridemia in the patient was only found at the time when he was breast fed, while after weaning, triglyceride levels were close to normal. Under both dietary conditions, apoA-V protein was undetectable in plasma while post-heparin plasma lipoprotein lipase activity was normal.