Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

OBJECTIVES: The purpose of this study was to determine the clinical and biophysical characteristics of a novel SCN5A mutation. BACKGROUND: Brugada syndrome and isolated cardiac conduction defect have been linked to SCN5A mutations. METHODS: Eleven members of a western European family underwent electrophysiologic investigations and mutation analysis of the SCN5A gene. Wild-type and mutant SCN5A channels were expressed in HEK293 cells, and whole cell currents were studied using patch clamp procedures. RESULTS: A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family. Biophysical analysis demonstrated a significant current reduction for the mutant, a pathophysiologic profile consistent with Brugada syndrome and isolated cardiac conduction defect. Among 11 family members, 9 were carriers of the mutation. The proband's initial presentation was a saddleback Brugada ECG, atrial flutter, and diffuse conduction disturbances. He had no inducible ventricular arrhythmias but experienced sudden cardiac death. His brother was affected by atrial flutter and had a clear conduction disorder, but he did not display baseline or evocable ECG signs of Brugada syndrome. He received an implantable cardioverter-defibrillator that delivered one appropriate shock after 1 year of follow-up. The phenotype in the family members was highly variable and ranged from noninducible and inducible asymptomatic carriers of the mutations to isolated conduction disease and to symptomatic Brugada syndrome. CONCLUSIONS: We describe the functional characterization of a novel SCN5A pore mutation, R376H, with variable clinical expression in the same family. Differentiating between electrophysiologic entities (Brugada syndrome-isolated cardiac conduction defect) is more challenging. Recognition of factors modifying the clinical presentation may be important for clinical decision making.     

Mind-Refreshing Acupuncture Therapy for Facial Spasm, TrigeminalNeuralgia and Stubborn Facial Paralysis

Facial spasm, trigeminal neuralgia and stubborn facial paralysis are commonly seen in clinic. The authors have obtained quite good therapeutic results for the above diseases by using the mind-refreshing acupuncture therapy. These are introduced in the following.     

2型糖尿病(消渴病)微观辨证的临床研究

目的　为糖尿病的临床辨证、治疗用药提供客观依据和帮助。方法　观察 2型糖尿病 (消渴病 ,diabetesmellitus)不同证型患者各 30例 ,正常对照组 30例 ,检测血清一氧化氮 (NO)、血浆α -颗粒膜蛋白 (GMP 14 0 )、血浆D -二聚体 (D D)、血清白细胞介素 - 6 (IL 6 )这些微观指标的变化 ,探讨其与中医辨证分型的关系。结果　①血清NO值在各组中的变化是阴虚热盛组 >正常对照组>气阴两虚组 >气滞血瘀组 ,每两组间具有显著性差异 (P <0 0 5 ) ,其中气滞血瘀组与其它 3组具有非常显著性差异 (P <0 0 1)。②糖尿病各组患者血浆GMP 14 0、D D值均较正常对照组有非常显著性增高 (P <0 0 1) ,在糖尿病组各证型中 ,呈阴虚热盛组 <气阴两虚组 <气滞血瘀组变化趋势 ,且血浆GMP 14 0和D D的变化呈正相关 (r=0 6 6 )。③血清IL 6在糖尿病组较正常对照组升高 ,其变化呈阴虚热盛组 <气阴两虚组 <气滞血瘀组趋势 ,每两组间具有非常显著性差异 (P <0 0 1)。结论　糖尿病发病以正气不足为内在依据。随着病程的进展 ,脾肾亏虚及血瘀加重是必然趋势。治疗应重视补脾肾和活血化瘀     

含碘食物对Graves病患者甲状腺^131I与^99mTc摄取的不同影响

目的 探讨含碘食物对Graves病患者摄取^99mTc与^131I的影响。方法 选择曾食含碘食物的Graves病患者20例，在禁食含碘食物前后分两次进行摄^131I试验与甲状腺^99mTc显像．前者测定3、24h摄^131I率，后者计算摄锝指数(TI)及估算甲状腺质量(TW)。采用Wilcoxon符号秩和检验对数据进行对比分析。结果 20例患者禁止含碘食物前后的摄^131I率显著不同，所有患者禁食含碘食物后3和24h摄^131I率均显著增高。TI2例未变、2例增高、16例降低；TM18例减小、2例增大。较未禁食含碘食物的首次检测，两者均有显著性变化。结论 含碘食物对甲状腺摄取Na^99mTcO4的影响与Na^131I显著不同，含碘食物100％减低甲状腺^131I的摄取而90％锝摄取增高。     

眶骨的改变在眶部疾病HR-MRI诊断中的作用

目的:探讨眶骨的影像学所见及其在眶部疾病诊断中的作用。方法:回顾性分析诊断明确的眶部疾病80例的HR-MRI影像表现。80例中良性囊肿18例，外伤6例，炎性疾病6例，蝶骨嵴脑膜瘤9例，其他肿瘤41例。磁共振扫描采用1．5T GE Signa及Siemens Magnetom Sp63磁共振扫描机，用眶部表面线圈，SE系列常规轴位、冠状位及矢状位扫描，部分病例行脂肪抑制及增强扫描。结果：正常眶骨的HR-MRI表现为结构完整，边缘光整，皮质骨在T1WI及。T2WI上均为无信号区。15例眶骨受压迫性改变全见于良性囊肿的病例，骨质增生改变主要见于蝶骨脑膜瘤，2例骨折见于外伤病例，21例骨质破坏大多见于不同的恶性肿瘤病变中。结论：不同的眶部病变对眶骨的影响有差异，良性囊肿主要表现为眶骨受压迫性改变，蝶骨脑膜瘤多表现为骨质增生，外伤病例伴有眶骨骨折，恶性肿瘤病例常伴有眶骨的破坏。眶骨的改变对眶部疾病HR-MRI的诊断和鉴别诊断有重要作用。     

A study for accommodating the human crystalline lens by finite element simulation.

This paper constructs two finite element models of human crystalline lens and zonules based on published clinical data. Displacement and pressure were applied to study the mechanism of vision accommodation. The simulation results show that, in Model A, under the pull of the zonules, the thickness of the lens decreased linearly, and the lens diameter increased linearly. The optical power of the lens increased as the zonules displacement increased. Furthermore, the pressure had a remarkable influence on the shape of the lens and the optical power. The lens also became thinner and flatter as the pressure increased. The optical power increased when the pressure increased. In Model B, the lens became thicker and optical power increased as the equatorial zonules stretched. It is basically consistent with Schachar's hypothesis. The outcome of this paper proved that the analytical model presented in this paper can be used in the theoretical study of the accommodation mechanism of the lens.     

NE系列两种常用冲击波源碎石机治疗输尿管结石的疗效分析

目的分析并比较NE系列的两种冲击波源碎石机治疗输尿管结石的疗效、碎石时的疼痛程度、碎石时间及副作用。方法回顾性分析应用NE-IV型液电冲击波源碎石机治疗输尿管结石患者1290例及应用NE-VB型电磁冲击波源碎石机治疗输尿管结石患者1196例的临床资料,并进行疗效、碎石时间、碎石时的疼痛程度及副作用的比较。结果应用电磁冲击波源碎石机治疗输尿管上段结石患者的总有效率为85.4%,治疗时间23~60min,平均(35.3±5.7)min;输尿管下段结石患者的总有效率为94.6%,治疗时间3~60min,平均(30.5±6.1)min。碎石时患者的疼痛感觉轻。液电冲击波源碎石机治疗的输尿管上段结石患者的总有效率为75.7%,治疗时间25~110min,平均(38.0±9.8)min;输尿管下段结石为85.7%,治疗时间4~90min,平均(35.8±7.7)min。碎石时患者的疼痛感觉明显。此外,肾绞痛、血尿、恶心、呕吐、皮肤瘀斑等副作用明显高于电磁冲击波源碎石机治疗组。结论电磁冲击波源碎石机治疗输尿管结石疗效优于液电冲击波源碎石机,而且更安全、有效、痛苦小。     

犬海水中火器伤后早期血流动力学变化

OBJECTIVE: To investigate the hemodynamic changes in the early stages of gunshot wound of dogs in seawater for exploring early treatment protocol. METHOD: Fourteen conventional Beagles models undergoing gunshot wound in seawater were used along with another 2 dogs receiving the wound on land to serve as control. After the dogs were rescued from the seawater, the respiration (R), heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), mean arterial pressure (MAP), central venous pressure (CVP), pulmonary arterial wedge pressure (PAWP), and cardiac output (CO) were measured continuously in the early stages of the wound (53.62+/-12.19 min following injury), followed by statistical analysis of the results. RESULTS: Compared with the control group, the hemodynamic disturbance of the dogs receiving the wound in seawater was relatively severe during the first 15 min of the wound. The mortality tended to descend relevant to the position of the wounds, in the order of the head, chest, abdomen and limbs. CONCLUSIONS: Gunshot wound in seawater may cause severe hemodynamic changes, resulting in progressive dysfunction of circulation and high mortality rate. Early treatment should be targeted at hemodynamic stabilization in accordance to the characteristic changes during the early stages of the wound.     

益气化瘀法治疗糖尿病皮肤溃疡38例临床观察

糖尿病皮肤溃疡是外科常见病、多发病，因其反复发作，长期不愈，形成顽固性难愈性溃疡，愈后又极易复发，少数尚有癌变可能，所以严重影响了患者的身心健康及生命质量。西医多集中在控制血糖、抗感染、外用生长因子、外科清创术及植皮术等治疗措施上，虽然有一定的疗效，但是却缺乏安全有效加速创面愈合的积极措施。我们采用益气化瘀法为主治疗糖尿病溃疡，可以明显促进与加速创面愈合，减少疤痕形成，提高愈合质量。1993年10月～2002年12月共收治38例糖尿病皮肤溃疡患者，取得了较好的疗效。现报道如下。     

抗β2—受体自身抗体在心肌梗死急性期的动态变化

目的:了解抗β2-受体的自身抗体在急性心肌梗死(AMI)时的变化规律.方法:以合成的人心脏β2-受体细胞外第二环表位肽段172-197氨基酸序列作为抗原,应用酶联免疫吸附(ELISA)方法,检测41例AMI患者,发病24小时、7天、2～4周时,血清中抗β2-受体自身抗体的阳性率,并与61例正常人的检测结果进行对比.结果:心肌梗死患者急性期抗β2-受体自身抗体的阳性率显著高于对照组(P＜0.05);心肌梗死发病24小时时抗β2-受体自身抗体的阳性率(29.3%)明显低于发病2～4周时(56.1%)的检测结果(P＜0.05);心肌梗死急性期心功能killip-1级者与killip-2级者比较,抗β2-受体自身抗体的阳性率无显著性差异.结论:抗β2-受体自身抗体存在于AMI患者血清中,且在发病2～4周内逐渐升高.该抗体的产生与心肌梗死急性期心功能状态无明显的相关性.