弥漫性掌跖角化病1例

1临床资料 患者,男,18岁,因掌跖对称性弥漫性淡黄色角质增厚的斑块17年余,于2006年7月18日在我院就诊。无自觉症状。家族史：家系中无近亲结婚,3代9人中有1人发病,家系图见图1。患者（先证者）出生后4月开始发病,随着年龄的增长皮损加重。体检：系统检查正常,皮科情况：掌跖对称性弥漫性角质增厚的斑块,淡黄色,表面光滑、质硬、边界清晰。取左手掌皮损活检,组织病理示：角质增厚,角化不良,颗粒层和棘层增厚,真皮浅层有轻度炎症细胞浸润。诊断为弥漫性掌跖角化病。     

常染色体显性遗传非综合征型耳聋致病基因的定位研究

目的应用连锁分析方法对一个常染色体显性遗传非综合征型耳聋（DFNA）家系进行耳聋基因的定位研究。方法通过进行家系调查、对家系成员进行全面查体及听力学检查,绘制遗传图谱。应用连锁分析的方法,首先排除此家系的遗传位点与表型相似的已知DFNA位点连锁,然后进行全基因组扫描。结果该家系致聋基因定位在2号染色体2q13-q14．2上,最大LOD值在D2S363处,为3．22。通过单倍型分析将遗传位点定位于微卫星标记D2S1888和D2S2224之间约8．4cM的区域。对区域内的候选基因PAX8进行突变筛查,没有发现突变。结论本家系的耳聋基因定位在一个新的DFNA位点上。     

应用STR多态性对肝豆状核变性家系进行产前基因诊断的研究

目的探讨运用多个STR多态性位点单体型分析对肝豆状核变性携带者进行筛查及产前诊断的方法。方法对6个肝豆状核变性家系进行D13S296、D13S301和D13S316三个位点连锁分析。结果在6个WD家系中共检出患儿2例,携带者3例,正常个体1例。结果均经出生后或引产后脐带血验证,与产前诊断完全相符。结论联合应用多个遗传多态性位点进行连锁分析,方法简便、灵活、可靠.     

4例与GJB2基因相关的遗传性耳聋家系的鉴别诊断

 目的 通过遗传学检测明确4例先天性耳聋家系的致病突变,并加以鉴别,针对性地给出诊疗意见。方法 选取2020-05至2022-01于北京妇产医院产前诊断中心遗传咨询门诊就诊的4例先天性耳聋家系。利用耳聋基因芯片、全外显子组测序的实验方法,明确其遗传学致病突变,并提供针对性的咨询意见。结果 4例遗传性耳聋均与GJB2基因相关,但存在不同情况。例1为常染色体显性掌跖角化病伴耳聋,其致病变异c.167T>C属新报道;例2中,夫妻双方分别为MYO7A与GJB2复合杂合突变导致的先天性耳聋,其中妻子携带2个新报道致病变异,即MYO7A: c.1214G>A和MYO7A: c.3545A>G;例3为GJB2复合杂合突变引起的常染色体隐性耳聋;例4为GJB2复合杂合突变导致的迟发性耳聋。结论 与GJB2基因相关的先天性耳聋具有较强的临床异质性,遗传检测是对其鉴别诊断的必要手段。     

和田羊KRT31和KRT85基因遗传多态性及其 与羊毛性状关联性分析

试验旨在研究KRT31和KRT85基因是否是影响和田羊羊毛性状的候选基因,为今后和田羊的育种工作和改善羊毛性状提供科学依据。采集400只和田羊血样,运用PCR-SSCP和DNA测序等技术对和田羊个体的KRT31和KRT85基因进行遗传多态性分析。结果表明:和田羊KRT31和KRT85基因具有多态性,且均存在两种基因型,都处于Hardy-Weinberg平衡状态(P>0.05),KRT31基因多态信息含量(PIC)为0.233,属于低度多态(PIC<0.25)。KRT85基因多态信息含量(PIC)为0.346,属于中度多态(0.250.05)。KRT85基因在外显子2的204bp处存在A到G的突变,可以记作A204G。对氨基酸序列进行比较分析,该基因上A204G处的突变并未使氨基酸的编码发生改变,此位点突变为同义突变。与羊毛性状关联分析得出,AA和AB两种基因型的羊毛长度及细度差异均不显著(P>0.05)。说明和田羊KRT31基因可以作为影响和田羊羊毛性状的候选基因。     

Keratin 13基因在喉癌发生中的作用

探讨keratin 13基因在喉癌发生中的作用。方法在keratin 13基因内部及附近选择5个微卫星引物进行LOH分析，于DNA水平间接检测100例喉癌患者中该基因的缺失情况。结果5个STR位点均存在LOH，其中D17S1964E、D17S2092、D17S791、D17S1665及D17S808位点的LOH频率分别为30．48％、26．02％、21．62％、37．66%和21．51％，以D17S1665位点的LOH频率最高，杂合性丢失与临床分期无显著相关。结论Keratin13基因在喉癌的发生中具有重要作用，具体机制有待进一步研究。     

慢性阻塞性肺疾病免疫学指标的变化及其与DNA短串联重复序列的关联

目的探讨慢性阻塞性肺疾病(COPD)患者血液免疫学指标与DNA短串联重复序列的关联性。方法选取COPD患者40例及健康对照组100例应用全自动生化分析仪测定血液IgA、IgG、IgM、C3、C4,并应用第二代DNA遗传标记-短串联重复序列(STR)对D8S1179、D21S11、D7S820、CSF1P0、D3S1358、D5S818、D13S317、D16S539、D2S1338、D19S433、VWA、D12S391、D18S51、D6S1043、FGA 15个STR基因位点的遗传多态性进行分析。结果 COPD组免疫学指标与对照组比较,C4、IgA明显升高(P<0.05);而IgM升高、C3和IgG降低(P>0.05)。其中IgM与D8S1179-12、D19S433-16.2位点明显相关(P<0.05),IgG与FGA21位点明显相关(P<0.05)。结论 COPD患者免疫学指标发生变化,推测IgM、IgG检测结果与基因位点有关联,可能由基因决定了免疫学指标的个体差异性。     

一个致密核性先天性白内障家系致病基因的初步研究

目的 对一个致密核性先天性白内障家系的致病基因进行定位.方法 根据已报道的与先天性白内障相关基因的位置,选择紧密连锁的微卫星多态性标记,PCR扩增后进行基因分型,以分型结果为基础,利用等位基因共享分析和两点连锁分析对已知候选基因进行排除定位.结果 该家系临床表型为致密核性先天性白内障,目前尚无关于该表型致病突变的报道.已知的15个候选基因区域附近的微卫星位点均不存在等位基因共享;除D11S898外,其余27个微卫星位点的LOD值在重组率(θ)为0时均为-∝,致病基因与15个已知基因之间不存在连锁关系.结论 该家系的致病基因不是15个已知的先天性白内障相关基因,其致病基因有待进一步研究.     

RET原癌基因C634R突变合并G691S、R982C多态性致多发内分泌腺瘤病2A型的家系研究并文献复习

目的 对一个多发内分泌腺瘤病2A型(MEN2A)家系患者的临床特点及RET原癌基因突变情况进行分析.方法 收集先证者及其家系成员相关临床资料,提取1名先证者及10名家系成员的外周血基因组DNA,对RET基因所有外显子进行PCR扩增,对扩增产物进行测序分析.结果 家系中3位已发病患者的临床表现不同,但其RET原癌基因均同时存在3个错义突变,分别是位于11号外显子的C634R、G691S和位于18号外显子的R982C,而家系中其他成员则不存在上述突变.结论 当C634R与G691S、R982C多态性同时存在时,临床上主要表现为与单纯C634R突变一致的PET蛋白功能异常激活性疾病.     

青海蒙族群体8个STR位点遗传多态性研究

目的：研究青海蒙族人群第21号染色体D21S1432、D21S1435、D21S1270、D21S1440、D21S1446、GATA24H09、ATA42C09、GATA129D11等8个STR位点的遗传多态性。方法：运用PCR扩增、6%变性聚丙烯酰胺凝胶电泳结合银染技术对30位无关个体蒙族人群进行多态性研究。结果：8个位点分别检测出6、5、7、5、6、5、5、5个等位基因片段,共140个基因型,频率分布在0.025 09~0.046 43之间,多态性分布符合Hardy-weinberg平衡定律。8个STR位点多态信息量（PolymorpHism information content,PIC）分别为0.699 4、0.703 9、0.759 2、0.638 0、0.672 0、0.685 0、0.674 0、0.691 9,累积多态信息量为0.688 9。期望杂合度（heterozygosity,HET）分别为0.740 2、0.748 3、0.790 4、0.682 2、0.741 5、0.7271、0.742 5、0.725 5,累积杂合度为0.758 9。累积个体识别率（discrimination power,DP）为0.989 6,累积排除率（probabilities of paternity exclusion,PE）为0.999 6。结论：青海蒙族8个位点STR基因座的多态性数据显示其基因分布特征具有特异性。     

Knee injury and Osteoarthritis Outcome Score (KOOS) - validation of a Swedish version

The Knee injury and Osteoarthritis Outcome Score (KOOS) is a self-administered instrument measuring outcome after knee injury at impairment, disability, and handicap level in five subscales. Reliability, validity, and responsiveness of a Swedish version was assessed in 142 patients who underwent arthroscopy because of injury to the menisci, anterior cruciate ligament, or cartilage of the knee. The clinimetric properties were found to be good and comparable to the American version of the KOOS. Comparison to the Short Form-36 and the Lysholm knee scoring scale revealed expected correlations and construct validity. Item by item, symptoms and functional limitations were compared between diagnostic groups. High responsiveness was found three months after arthroscopic partial meniscectomy for all subscales but Activities of Daily Living.     

The acutely limping child

Acute limping may be the result of multiple pathologies in children. The differential diagnosis varies based on the age of the child. Irrespective of age, the initial imaging work-up includes AP and frog leg radiographs of the pelvis and ultrasound; MRI may sometimes be helpful. In children less than 3 years, infections and trauma are most frequent. MRI is the imaging modality of choice when osteomyelitis is clinically suspected. Between the ages of 3 and 10 years, transient synovitis of the hip and Legg-Calvé-Perthes disease are main considerations but infection, inflammation and focal bony lesions are also considered. In children over 10 years, slipped capital femoral epiphysis also is considered.     

Do Balance Board Training Programs Reduce the Risk of Ankle Sprains in Athletes?

Introduction Ankle sprains are the most common musculo-skeletal injury that occurs in athletes,particularly in sports that require jumping and landing on one foot such as soccer,and basketball(1-4).These injuries often result in significant time loss from participation,long-term disability,and have a major impact on health care costs and resources(5-8).     

High Intensity Interval Training:New Insights

KEY POINTS ·High-intensity interval training(HIT)is characterized by repeated sessions of relatively brief，intermittent exercise.often performed with an“a11 out”effort or at an intensity close to that which elicits peak oxygen uptake(i.e.，≥90%of VO2 peak).     

Endovascular management of carotid-cavernous fistulas

Objective To investigate endovascular treatment of traumatic direct carotid-cavernous fistulas （CCF） and their complications such as pseudoaneurysms. Methods： Over a five-year period, 22 patients with traumatic direct CCFs were treated endovascularly in our institution. Thirteen patients were treated once with the result of CCF occluded, 8 twice and 1 three times. Treatment modalities included balloon occlusion of the CCF, sacrifice of the ipsilateral internal carotid artery with detachable balloon, coll embolization of the cavernous sinus and secondary pseudoaneurysms, and covered-stem management of the pseudoaneurysms. Results All the direct CCFs were successfully managed endovascularly. Four patients developed a pseudoaneurysm after the occlusion of the CCF with an incidence of pseudoaneurysm formation of 18.2% （4/22）. A total number of 8 patients experienced permanent occlusion of the ICA with a rate of ICA occlusion reaching 36.4% （8/22）. Followed up through telephone consultation from 6 months to 5 years, all did well with no recurrence of CCF symptoms and signs. Conclusion Traumatic direct CCFs can be successfully managed with endovascular means. The pseudoaneurysms secondary to the occlusion of the CCFs can be occluded with stent-assisted coiling and implantation of covered stents.     

Developmental validation of the PowerPlex(®) ESI 16 and PowerPlex(®) ESI 17 Systems: STR multiplexes for the new European standard

In response to the ENFSI and EDNAP groups’ call for new STR multiplexes for Europe, Promega^® developed a suite of four new DNA profiling kits. This paper describes the developmental validation study performed on the PowerPlex^® ESI 16 (European Standard Investigator 16) and the PowerPlex^® ESI 17 Systems. The PowerPlex^® ESI 16 System combines the 11 loci compatible with the UK National DNA Database^®, contained within the AmpFlSTR^® SGM Plus^® PCR Amplification Kit, with five additional loci: D2S441, D10S1248, D22S1045, D1S1656 and D12S391. The multiplex was designed to reduce the amplicon size of the loci found in the AmpFlSTR^® SGM Plus^® kit. This design facilitates increased robustness and amplification success for the loci used in the national DNA databases created in many countries, when analyzing degraded DNA samples. The PowerPlex^® ESI 17 System amplifies the same loci as the PowerPlex^® ESI 16 System, but with the addition of a primer pair for the SE33 locus. Tests were designed to address the developmental validation guidelines issued by the Scientific Working Group on DNA Analysis Methods (SWGDAM), and those of the DNA Advisory Board (DAB). Samples processed include DNA mixtures, PCR reactions spiked with inhibitors, a sensitivity series, and 306 United Kingdom donor samples to determine concordance with data generated with the AmpFlSTR^® SGM Plus^® kit. Allele frequencies from 242 white Caucasian samples collected in the United Kingdom are also presented. The PowerPlex^® ESI 16 and ESI 17 Systems are robust and sensitive tools, suitable for the analysis of forensic DNA samples. Full profiles were routinely observed with 62.5 pg of a fully heterozygous single source DNA template. This high level of sensitivity was found to impact on mixture analyses, where 54–86% of unique minor contributor alleles were routinely observed in a 1:19 mixture ratio. Improved sensitivity combined with the robustness afforded by smaller amplicons has substantially improved the quantity of data obtained from degraded samples, and the improved chemistry confers exceptional tolerance to high levels of laboratory prepared inhibitors.     

Bronchial stump fistula :treatment with covered retrievable hinged metallic stents-preliminary clinical experience

Objective To evaluate the preliminaily clinical efficacy and retrievability of a retrievable hinged covered metallic stent in the treatment of the bronchial stump fistula （BSF）. Methods Between April 2003 and March 2005, 8 patients with bronchial stump fistula after pneumonectomy or lobectomy were treated with two types （A and B） of retrievable hinged covered metallic stents. Type A stent was placed in 6 patients and type B in 2 under fluoroscopic guidance. The stent was removed with a retrieval set when BSF was healed or complications occurred. Results Stent placement in the bronchial tree was technically successful in all patients, without procedure-related complications. Immediate closure of the BSF was achieved in all patients after the procedure. Stents were removed from all patients but one. Removal of the stents was difficult in two patients due to tissue hyperplasia. Patients were followed up for 6 - 21 months. Placement of the stents remained stable in all patients except one due to severe cough. Permanent closure of BSF was achieved in 7 （87.5%） of 8 patients. Conclusion Use of a retrievable hinged covered expandable metallic stent is a simple, safe, and effective procedure for closure of the BSF. Retrieval of the stent seems to be feasible. （J Intervent Radiol, 2007, 16： 253-257）     

Prevalence and severity of hip and groin pain in sub‐elite male football: a cross‐sectional cohort study of 695 players

The purpose of this study was twofold: (a) to investigate the prevalence of hip and groin pain in sub‐elite male adult football in Denmark and (b) to explore the association between prevalence and duration of hip and groin pain in the previous season with the Copenhagen Hip and Groin Outcome Score (HAGOS) in the beginning of the new season. In total 695 respondents from 40 teams (Division 1–4) were included. Players completed in the beginning of the new season (July–Sept 2011) a self‐reported paper questionnaire on hip and/or groin pain during the previous season and HAGOS. In total 49% (95% CI: 45–52%) reported hip and/or groin pain during the previous season. Of these, 31% (95% CI: 26–36%) reported pain for >6 weeks. Players with the longest duration of pain during the previous season had the lowest HAGOS scores, when assessed at the beginning of the new season, P < 0.001. This study documents that half of sub‐elite male adult football players report pain in the hip and/or groin during a football season. The football players with the longest duration of pain in previous season displayed the lowest HAGOS scores in the beginning of the new season.