Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients

Abstract:  The risks of developing malignant melanoma (MM) include ultraviolet irradiation and genetic factors. To examine the contribution of rare and common variation within known MM genes in sporadic US MM patients, coding regions of known MM susceptibility genes [cyclin-dependent kinase inhibitor 2A ( CDKN2A ), cyclin-dependent kinase 4, melanocortin 1 receptor ( MC1R ) and tyrosinase ( TYR )] were resequenced in 109–135 MM cases. The significance of variants was examined by comparing their frequencies in 390 cancer-free controls. Potential deleterious mutations in CDKN2A were found in two patients and two others had variants of unknown significance. Cases were more likely than controls to harbour the MC1R 'R' variants known or predicted to alter its function ( P  = 0.002), particularly the R160W variant ( P  = 0.0035). The associated TYR R402Q variant (rs1126809*A) was found in 29% of cases, similar to what has been described previously. One MM patient with a family history of MM, who had developed other skin cancers, was homozygous for a novel TYR variant (P406L) of unknown significance. Hence, rare variants in TYR may be important risk factors for skin cancer.     

SNAP-II predicts mortality among infants with congenital diaphragmatic hernia.

OBJECTIVE: Outcomes analysis in congenital diaphragmatic hernia (CDH) requires a validated risk-adjustment tool. The purpose of this study was to use the Canadian Neonatal Network (CNN) database to validate the Score for Neonatal Acute Physiology, Version II (SNAP-II) for prediction of mortality among CDH infants admitted to a neonatal intensive care unit (NICU), and to compare this to the predictive equation recently developed by the Congenital Diaphragmatic Hernia Study Group (CDHSG). STUDY DESIGN: Infants with CDH in the CNN database were identified. Bivariate and multivariable logistic regression models were used to identify risk factors predictive of mortality. Model predictive performance and calibration were assessed using the area under the receiver operator characteristic curve and the technique of Hosmer-Lemeshow, respectively, and compared with the CDHSG predictive equation. RESULTS: There were 88 patients with CDH among 19,507 admissions to CNN hospitals. The mortality rate among CDH patients surviving to NICU admission was 17%, and 12.5% received extracorporeal membrane oxygenation therapy. Gestational age and admission SNAP-II score predicted mortality. Model predictive performance and calibration were optimized with these variables combined. The CDHSG equation was equally predictive of mortality, but was only marginally calibrated. CONCLUSIONS: SNAP-II is highly predictive of mortality among patients with CDH, and can be used to risk-adjust these patients.     

Reactivation of dormant lumbar methicillin-resistant Staphylococcus aureus osteomyelitis after 12 years.

The adequate treatment of methicillin-resistant Staphylococcus aureus (MRSA) osteomyelitis has intrigued clinicians for some time. As the resistance of these pathogens, coupled with the increase in community-acquired cases, continues steadily to rise, clinicians are finding it useful to employ multi-modal approaches for efficacious treatment. The authors present a single case report of a patient with recurrent MRSA osteomyelitis, lumbar paraspinal and epidural abscess. He was found to have decreased muscle strength and was hyporeflexic in the involved extremity. Serum testing demonstrated MRSA bacteremia. Neuroimaging studies revealed evidence of paraspinal abscess and a presumed herniated nucleus pulposus at the L5/S1 interspace with significant nerve root compromise. Despite antimicrobials, his symptoms persisted, necessitating surgical exploration. At surgery, paraspinal and epidural abscesses were encountered and debrided; however, no herniated disc was visualized. This case demonstrates the diagnostic and therapeutic dilemmas with which these lesions present. We postulate that the MRSA osteomyelitis/discitis pathogens were walled off in the disc space and subsequently inoculated the soft tissues with ensuing bacteremia. We concur that antimicrobial treatment should be the first line of therapy for these patients; however, surgical debridements and cautious spinal instrumentation should be employed where appropriate.     

6种中药制剂治疗急性脑梗死的成本-效果分析

目的：运用药物经济学的方法对在我院应用的6种中药注射液进行成本-效果分析。方法：271例急性脑梗死患者依据药物治疗方案不同分为6组，即血塞通组、舒血宁组、苦碟子组、疏血通组、川芎嗪组、丹红组，分别观察疗效，并运用药物经济学的方法进行成本-效果分析。结果：疏血通组的成本为3 419.90元，总有效率最高（91.84%），6组间增量成本-效果最低。因此疏血通组是较为合理、经济的方案。     

新生儿胃穿孔14例治疗体会

目的　探讨新生儿胃穿孔的发病特点和治疗方法。方法　对我院近 10年治疗的 14例新生儿胃穿孔进行回顾性分析。结果　 14例新生儿胃穿孔皆行手术治疗 ,术后死亡 7例。结论　新生儿胃穿孔多因先天性胃壁肌层发育不良及胃内张力增高缺血缺氧所致。早期诊断 ,及时手术 ,减少并发症及术后加强支持疗法是提高本病治愈率的关键     

SARS流行期间肺炎患者的临床表现和胸部影像变化的探讨

目的 探讨SARS流行期间肺炎患者的临床表现和胸部影像变化特点。方法 对76例SARS流行期间发热留观室收治的肺炎患者的临床表现及胸部影像进行分析。结果 (1)此组肺炎患者多为青壮年(占60．53％)，无固定职业或职业性质流动性较大者居多(69．74％)；(2)临床特征主要是发热，以中高热为多见(80．26％)，发病早期部分患者呼吸道症状并不明显(67．10％)，外周血WBC在正常或低于正常范围(85．53％)，淋巴细胞比例减少(75．00％)；(3)肺部CT表现为不同程度的炎性浸润；病灶形态以斑片状和球形多见(77．63％)；病灶常位于肺周边，常出现支气管气像；动态观察病变影像大多无明显进展(88．16％％)，经治疗均完全吸收。结论 SARS流行期间普通肺炎与非典型肺炎有相似的临床及胸部影像表现；肺部CT扫描能早期发现肺炎患者的异常阴影，明显优于胸片，但无特异性。因此，在SARS流行期间发热诊室医务人员应加强肺部炎性改变的早期诊断和鉴别诊断水平。     

一次和多次住院精神分裂症患者再住院分析

目的 :比较 1次和≥ 2次住院精神分裂症患者出院后的再住院率 ,初步探讨影响再住院的相关因素。　方法 :1999年度出院的 833例住院精神分裂症患者纳入调查 ,使用自制的再住院及其相关因素调查表 ,于 2 0 0 3年 12月底前电话或入户调查出院后至少 4 8个月的情况。　结果 :6 6 4例完成调查 ,分为 1次住院组 (333例 )和多次住院组 (331例 )。用生存分析 (Kaplan Meier公式 )比较两组未再住院率 ,12个月末 (分别为 6 7 0 %和 6 1 6 % )、2 4个月末 (5 6 2 %和 4 8 9% )、36个月末 (4 6 0和 35 1% )和 4 8个月末 (4 1 1%和 2 8 7% )。Cox回归风险比例模型分析影响再住院的相关因素显示 ,与药物依从性、生活事件、自知力和家庭照顾相关 (P <0 0 5 ) ,药物依从性对再住院的贡献值 (1 719)最大。　结论 :1次住院精神分裂症患者出院后的再住院率较多次住院者低。药物依从性是影响再住院的主要因素     

2例腹腔镜下阴道癌根治及阴道重建手术的手术配合

总结2例腹腔镜下阴道癌根治及阴道重建手术的手术配合经验.提出术前做好心理护理、肠道准备,熟悉手术步骤、手术者的手术特点,熟练掌握手术器械的使用方法,与术者默契配合,是保证手术成功的关键措施.