抽提透针法联合康复训练对小脑梗死后平衡功能的影响

目的观察抽提透针法联合康复训练对小脑梗死后患者平衡功能的影响。方法选取小脑梗死患者93例作为研究对象,随机分为观察组48例、对照组45例,对照组采用常规药物治疗与康复训练,观察组在对照组基础上采用抽提透针法进行治疗。观察两组临床疗效,治疗4周和治疗8周时用Berg平衡量表(BBS)、改良Barthel指数(MBI)、姿势评定量表(PAS)对患者进行评定。结果观察组治疗4周时总有效率显著高于对照组,差异具有统计学意义(P<0.05);观察组治疗8周时总有效率依旧高于对照组,差异具有统计学意义(P<0.05);对照组治疗8周与治疗4周时总有效率比较差异无统计学意义(P>0.05),观察组治疗8周时总有效率显著高于治疗4周时总有效率(P<0.05);观察组治疗4周时MBI、BBS、PAS评分显著高于治疗前,治疗8周时MBI、BBS、PAS评分显著高于治疗4周与治疗前,差异具有统计学意义(P<0.05);且观察组治疗4周和治疗8周时MBI、BBS、PAS评分显著高于对照组,差异具有统计学意义(P<0.05)。结论抽提透针法联合康复训练对小脑梗死后患者平衡能力的恢复具有显著效果。     

Taurodontism: A minor diagnostic criterion in Laurence-Moon/Bardet-Biedl syndromes

Abstract

Objective. The objective of the study was to present the prevalence of taurodontism in the permanent dentition in individuals with Laurence-Moon/Bardet-Biedl syndromes (LM/BBS). Methods and participants. Thirty-nine individuals were studied, which comprises the whole population of known LM/BBS patients in Norway. Data were collected retrospectively. Panoramic radiographs (OPG) were evaluated to document taurodontism. Results. Taurodontism was found in 82.9% of the individuals with LM/BBS. The second mandibular molars had the highest (72.3%) prevalence of taurodontism and the first mandibular molars the lowest (58.2%). Conclusion. This study suggests that taurodontism should be included as a minor diagnostic criterion for the Laurence-Moon/Bardet-Biedl syndromes (LM/BBS).     

头穴丛刺及认知训练对血管性认知障碍影响的临床观察

目的：观察头穴丛刺法联合认知训练治疗血管性认知障碍的疗效。方法：选取血管性认知障碍患者60例,随机分为治疗组及对照组。两组患者均给予吡拉西坦口服、常规治疗及运动疗法、作业疗法（认知疗法）治疗;治疗组在对照组治疗方法基础上给予头穴丛刺疗法。于治疗前、治疗12周后采用CDT、BBS、MMSE评分对两组患者认知障碍程度进行评定。结果：治疗前2组患者CDT、BBS、MMSE评分组间差异均无统计学意义（P〉0．05）;经12周治疗后,发现治疗组BBS、MMSE治疗后与治疗前比较有显著差异（P〈0．01）,对照组MMSE评分与治疗前比较有统计学意义（P〈0．05）;治疗组CDT评分与治疗前比较有统计学意义（P〈0．05）;治疗组与对照组之间治疗后MMSE、BBS评分比较有显著差异（P〈0．05）。结论：头穴丛刺法联合认知训练可改善血管性认知损害程度,从而值得临床推广、应用。     

基于信息资源的医学装备论坛系统开发与运行

目的:为推动医学装备领域的技术交流和学术开展,协助卫生行政部门进行大型医用设备的装备管理。方法:将网络论坛(BBS)技术应用于医学装备论坛开发,并在系统中植入医疗器械行业基础信息。结果:开发出基于信息资源的医学装备论坛,实现信息服务和技术交流等功能。现有实名制注册会员2千余人。结论:医学装备BBS的应用,突破传统学术活动和会议的时间和空间限制。不仅使技术人员有更多的时间参与,而且使更多普通技术人员有机会参与。     

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child

Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260–300 mmH₂O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis or exome sequencing. Her papilledema improved following administration of acetazolamide. This is the first report of a case of BBS complicated with intracranial hypertension and its treatment.     

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome, an octameric ciliary transport complex, or accessory proteins involved in the BBSome assembly or function. BBS proteins have been extensively studied using in vitro, cellular, and animal models. However, the molecular functions of particular BBS proteins and the etiology of the BBS symptoms are still largely elusive. In this study, we applied a meta‐analysis approach to study the genotype‐phenotype association in humans using our database of all reported BBS patients. The analysis revealed that the identity of the causative gene and the character of the mutation partially predict the clinical outcome of the disease. Besides their potential use for clinical prognosis, our analysis revealed functional differences of particular BBS genes in humans. Core BBSome subunits BBS2, BBS7, and BBS9 manifest as more critical for the function and development of kidneys than peripheral subunits BBS1, BBS4, and BBS8/TTC8, suggesting that incomplete BBSome retains residual function at least in the kidney.     

Novel mutations in the BBS12 gene of two Chinese Bardet-Biedl syndrome pedigrees

Objective To Summarize and review the clinical data of two Bardet-Biedl syndrome (BBS) children so as to improve our understanding of the disease. Methods Clinical data of two BBS pedigree were collected. Gene analysis was performed by exon capture and next-generation sequencing, validated using Sanger sequencing. Results Both cases were male, Han nationality, born with polydactyly and had rapid weight gain after birth. They went to see the pediatric endocrinologist due to obesity, and found increased serum creatinine level, so were referral to pediatric nephrologists. Case one was further diagnosed rod-cone dystrophy, bilateral renal multiple cysts (chronic kidney disease, stage 4), atrial septal defect, mental retardation, hypertension and abnormal hearing. Two novel heterozygous compound mutation of BBS12 gene [c.1604T＞G (p.V535G) paternal, c.173delA (p.E58Efs*5) maternal] and one known BBS4 missense mutation (paternal) were detected. Case two was detected multiple cysts in kidneys by ultrasound in fetal phase. He was suspected to have autism. He had small penis, hypertension and renal injury (chronic kidney disease, stage 3). Two novel heterozygous compound mutation of BBS12 gene [c.1783T＞C (p.W595R) paternal, c.1749_1750delA (p.R584Dfs*54) maternal] were detected. All mutations were predicted to be harmful. Conclusions BBS is a rare disease. It is difficult to be diagnosed at early age. Polydactyly and obesity can be the early two symptoms for seeing doctors. Few cases have been diagnosed upon gene analysis. In this study, the mutation of BBS12 in Chinese and 4 novel mutations in BBS12 with severe renal injury are reported for the first time. It will extend the spectrum of BBS gene mutations.     

利用网络论坛进行辅助教学的探索

随着计算机网络的发展和Internet的广泛应用。利用互联网进行辅助教学成为广大教师课堂教学的有益补充。时利用网络论坛作辅助教学的基本思想进行了阐述，井对相关实际案例和教学评价分别作了分析。