先天性无痛无汗症患儿麻醉管理一例

正先天性无痛症又称为"遗传性感觉和自主神经病变(hereditary sensory and autonomic neuropathy,HSAN)",是一种罕见的常染色体隐性遗传性疾病[1,2]。先天性无痛无汗症(congenital insensitivity to pain with anhydrosis,CIPA)属于HSANⅣ型,临床表现为:痛觉缺失或迟钝,无汗、高热、肌张力异常或伴智力障碍,反复多发骨折、感染和骨髓炎。     

先天性无痛无汗症合并Charcot脊柱病1例报道并附文献复习

先天性无痛无汗症（congenital insensitivity topain with anhidrosis,CIPA）是一种罕见遗传性感觉自主神经障碍,主要表现为先天性全身性痛觉缺失,常合并无汗、智力发育迟缓等,并可引发骨关节的破坏性改变即神经性关节病（Charcot关节病）。既往文献对CIPA伴神经性关节病的报道较少。我院收治CIPA伴Charcot脊柱病1例,报道如下。     

指甲-髌骨综合征一个家系报告

指甲-髌骨综合征(nail-patella syndrome,NPS)又名遗传性指甲-髌骨发育不良,是包括指甲、髂骨角、膝和肘部四联畸形及多系统受累的家族遗传性疾病[1].国外报道发病率约为1/50 000[2],国内鲜有报道.我们报道1个4代6例的NPS家系.     

成人型多囊肾相关不育症1例报告并文献复习

成人型多囊肾属常染色体显性遗传病,部分男性患者可合并无精子、严重少精子、死精子、不动精子而导致不育[1,2].近期我院诊治1例常染色体显性遗传性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)合并精囊腺多发囊肿导致严重弱精子症.为探讨多囊肾与不育症之间的相关性,以下报道并复习了有关文献.     

先天性无痛无汗症患儿行大腿截肢术麻醉管理一例

先天性无痛无汗症(congenial insensitivity to pain with anhidrosis,CIPA)又称先天性感觉和自主神经功能障碍综合征,为常染色体隐性遗传病。CIPA的临床表现主要为痛觉缺失、骨端无痛性损伤、口腔咬痕、无汗高热、精神发育迟滞等[1]。由于患儿痛觉的消失或迟钝,无法避免危险而跌伤,而伤后无疼痛继续活动,最终引起反复的骨折、骨折不愈合,严重时需要手术处理,针对这种罕见病术中麻醉管理也一直面临着挑战。在以往大部分的报道中对于这类患儿的全麻方案中较多的选择静脉泵注丙泊酚维持麻醉。但这类患者心血管事件相关的并发症较为明显,尤其是心动过缓、低血压发生率较高,术中丙泊酚维持麻醉有可能会增加以上并发症的发生。本例患儿的麻醉管理选择了吸入七氟醚维持麻醉,取得了较好的麻醉效果,现报道如下。     

胸交感神经切断术对手汗症病人生存质量影响的调查

原发性手汗症是一种无明显诱因引起的手部汗腺分泌亢进的病态.流行病学调查显示约有0.12%的青少年患有重度手汗症[1].迄今为止,胸腔镜下胸交感神经切断术(ETS)是治疗手汗症唯一具有长期疗效的方法.我们通过生存质量(QOL)调查,评估ETS对手汗症病人生存质量的改善情况.     

先天性并指一家系调查

先天性并指(趾)是一种以手脚发育畸形为体征的常染色体遗传性疾病[1].2007年,我们收治了3例并指患者,并调查了该患者所属家系五代人患病情况.现报道如下.     

高压氧对脊髓型颈椎病术后功能恢复的影响

脊髓型颈椎病(cervical spondylotic myelopathy,CSM)以肢体活动、感觉障碍、麻木等为主要表现,中老年患者居多,大多需手术治疗.颈椎管扩大成形术联合微型钛板固定治疗是CSM创伤较小、疗效确切的手术方法,通过"脊髓漂移"原理进行减压治疗[1].但报道称,术后仍有部分患者因致压物体积过大、脊髓...     

家族性低血磷性骨软化症一例

低血磷性骨软化症有X性连锁显性遗传性低血磷性骨软化症(X-link,hypophosphatemia,XLH)、常染色体显性遗传低血磷性骨软化症(autosomal dominant hypophosphatemia osteomalacia,ADHO)、肿瘤相关性低血磷性骨软化症(tumor induced osteomalacia,TIO)3种病因[1].笔者在重庆医科大学附属第一医院进修期间收治1例XLH,报道如下.     

肾脏体积指标在监测成人型多囊肾病病情进展中的应用

成人型多囊肾病又称常染色体显性遗传性多囊肾病(ADPKD)是最常见的单基因遗传性肾病,发病率约为1/1000～1/500[1,2].     

Intubation with propofol augmented with intravenous lignocaine

Sixty patients of ASA grade 1 and aged 18 to 55 years were admitted to a double-blind study. Anaesthesia was induced with propofol 2.5 mg/kg after intravenous pretreatment with lignocaine 1.5 mg/kg or a similar volume of isotonic saline. The quality of subsequent tracheal intubation was graded and the pressor response to tracheal intubation assessed. There were no significant differences between treatment groups.     

510例腹腔镜联合纤维胆道镜胆总管切开取石术的临床应用

目的探讨腹腔镜联合纤维胆道镜治疗胆总管结石的可行性及临床应用价值。方法1998年～2007年对510例患者行腹腔镜胆总管切开取石(laparoscopic common duct exploration,LCDE),与同期300例开腹(opensurgery,OS)手术者比较。术前确诊者,术中直接行胆总管切开胆道镜取石;术前有黄疸史、胰腺炎史和(或)直接胆红素增高、胆系酶(AKP、GGT)增高者,或胆总管在0.8cm以上者行术中造影,明确有胆总管结石的切开胆总管胆道镜取石。405例置T管引流(留置T管组),105例行胆总管Ⅰ期缝合(I期缝合组)。结果手术均获成功,与OS组比较,手术时间、术中出血量、术后并发症发生率(胆瘘、出血)差异无统计学意义;住院日、术后镇痛药使用次数、腹腔或切口感染率、残石率明显减少。无中转开腹。30例T管引流口靠近肋弓而引起术后疼痛,2例术后2dT管才引流出胆汁。留置T管组有24例胆总管残余结石,3月后经胆道镜取石成功。留置T管组手术时间平均(110±15)min,平均术后住院8d;Ⅰ期缝合组手术时间(95±8)min,平均术后住院5d。结论LCDE是治疗胆总管结石安全、有效的方法,同样可起到创伤小、痛苦轻、恢复快、住院时间缩短等微创效果,如能在取净结石的情况下行胆总管Ⅰ期缝合,微创效果尤为明显。     

Clinical outcomes in patients with renal artery stenosis treated with stent placement with embolic protection compared with those treated with stent alone

Purpose: To compare the clinical outcomes in patients with chronic renal insufficiency (CRI) and renal artery stenosis (RAS) following renal artery (RA) stent placement with and without embolic protection device (EPD) usage. Materials and Methods: Eighteen patients who had RA stent placement with EPD were matched to control patients (RA stent only). Blood pressure, number of hypertensive medications, and estimated glomerular filtration rate (eGFR) at 3 months before the procedure and after 12 months were determined. An increase of ≥ 20% in eGFR at 12 months from baseline was defined as "improvement," decrease of ≥20% as "deterioration," and an eGFR change between those values as "stabilization" at 12 months. Results: At 12 months, stage 4 patients treated with EPD had significantly higher eGFR than controls (P = .01). There was no statistical difference in blood pressure outcomes between the 2 groups. Conclusions: Patients with stage 4 CRI did significantly better with EPD than those treated without it.     

腹腔镜与胆道镜联合取石术治疗肝内胆管结石的临床研究

目的:探讨腹腔镜联合胆道镜治疗肝内胆管结石的临床价值。方法:随机将80例肝内胆管结石患者分为2组,实验组(n=45)行腹腔镜联合胆道镜取石术,对照组(n=35)行单纯腹腔镜手术。结果:实验组45例手术均获成功,手术时间110～118 min,平均(160±15)min;术中出血量45～280 ml,平均(140±60)ml;住院6～8天,平均(7±2)天;42例结石完全取净,结石清除率93.3%,术后无一例发生胆漏、出血、脓肿等并发症。对照组手术时间130～220 min,平均(150±30)min;术中出血量80～350 ml,平均(180±75)ml;住院8～12天,平均(9±1)天;32例结石完全取净,结石清除率91.4%,术后2例发生胆漏。两组患者手术时间、术中出血量、住院时间差异有统计学意义(P<0.05),结石完全取净率及并发症发生率差异无统计学意义(P>0.05)。术后随访所有患者3～6个月,经胆道镜复查无一例复发。结论:腹腔镜术中联合胆道镜治疗肝内胆管结石安全有效,值得推广应用。     

Variables associated with survival in patients with invasive bladder cancer with and without surgery

We recorded the survival of 141 patients assessed for radical cystectomy, which included cardiopulmonary exercise testing. The median Kaplan-Meier survival estimates were: 1540 days for the whole cohort; 2200 days after cystectomy scheduled (n = 108); and 843 days without surgery. The mortality hazard remained double that expected for a matched general population, but survival was better in patients scheduled for surgery than those who were not: the mortality hazard ratio (95%CI) after cystectomy was 0.43 (0.26–0.73) the mortality hazard without surgery, p = 0.001. The mortality hazard ratios for the three-variable Bayesian Model Averaging survival model for all 141 patients were: referral for surgery (0.5); haemoglobin concentration (0.98); and efficiency of carbon dioxide output (1.05). Efficiency of carbon dioxide output was the single variable in the postoperative model (n = 108), mortality hazard 1.08 (per unit increase). The ratio of observed to expected peak oxygen consumption associated best with mortality in 33 patients not referred for surgery, hazard ratio 0.001. Our results can inform consultations with patients with invasive bladder cancer and suggest that interventions to increase fitness and haemoglobin may improve survival in patients who do and who do not undergo radical cystectomy.