Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

Abstract Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a trinucleotide repeatexpansion, cytosine-thymine-guanine (CTG)_n, in the 3′ untranslated region of a gene encoding the myotonic dystrophy protein kinase (DMPK). To correlate CTG expansion and protein expression, we studied muscle specimens from 16 adult DM1 patients using three anti-DMPK antibodies for immunoblotting. We estimated the amount of the full-length DMPK (85 kDa) in muscle biopsies from normal controls and from DM1 patients carrying different (CTG)_n expansions. We found that DMPK concentration was decreased to about 50% in DM patients’ muscles; the protein decrease did not seem correlated with the CTG repeat length. However, the fibre type composition in skeletal muscle seemed somehow to affect DMPK decrease, as the lowest level of the enzyme was found in patients with the lowest content of type 1 fibre.     

Child with a tail

An interesting case of a child with a tail is reported. The child had a tail like structure in the back since birth, increasing with age. It was 20 cm. long, the longest tail so far described in the English literature. There was no functional complain. The result was excellent after excision as the problem was only cosmetic.     

The thymus in seronegative myasthenia gravis patients

Summary In 5–10% of all patients with typical generalised myasthenia gravis (MG), serum antibody to the acetylcholine receptor (AChR) is undetectable. To determine whether these represent a distinct subgroup, we have compared the thymuses of 14 seronegatives, 70 seropositives and 12 non-myasthenic controls. By quantitative immunohistology on coded sections, the 7 seronegative samples were clearly distinguishable from the controls by the pronounced lymph node-type T-cell areas in the medulla. While these closely resembled those in the seropositive cases, germinal centres were significantly sparser, and total in vitro IgG production was disproportionately low (per B cell) in the 12 cases tested. Furthermore, specific anti-AChR production was never detected in any of these cultures. The data support the view that the medullary T-cell areas are the most consistent abnormalitiy in the MG thymus (though it may not be primary), and they strongly imply that seronegative and seropositive MG are distinct entities.     

Demonstration of human papillomavirus types 6 and 11 in juvenile laryngeal papillomatosis by in-situ DNA hybridization

A study is reported in which an in situ hybridization technique for the demonstration of human papillomavirus (HPV) employing a biotin--streptavidin polyalkaline phosphatase complex has been successfully applied to formalin-fixed paraffin-processed tissue obtained from ten patients with juvenile laryngeal papillomatosis. In all cases, positive results were obtained for either HPV type 6 or 11. Normal vocal cord epithelium was negative.     

图表比较教学法在微生物学教学中的应用

图表比较教学法作为微生物学教学的直观教学手段在本科教学中占有十分重要的地位，是形象思维和抽象思维两种思维方式的协调统一。有利于反映各知识层面的内在联系，可使学生加深对知识的理解，增强分析和综合问题的能力，以利于提高教学质量。     

Effects of simplifying choice tasks on estimates of taste heterogeneity in stated-choice surveys

Researchers usually employ orthogonal arrays or D-optimal designs with little or no attribute overlap in stated-choice surveys. The challenge is to balance statistical efficiency and respondent burden to minimize the overall error in the survey responses. This study examined whether simplifying the choice task, by using a design with more overlap, provides advantages over standard minimum-overlap methods. We administered two designs for eliciting HIV test preferences to split samples. Surveys were undertaken at four HIV testing locations in San Francisco, California. Personal characteristics had different effects on willingness to pay for the two treatments, and gains in statistical efficiency in the minimal-overlap version more than compensated for possible imprecision from increased measurement error.     

应重视口腔颌面部恶性肿瘤的综合序列治疗

口腔颌面部恶性肿瘤约占全身恶性肿瘤的3％，虽然所占比例不高，但l大l其解剖部位特殊．涉及美观和重要的生理功能，冈此对患者机体和心理的影响不容忽视。早期（Ⅰ、Ⅱ期）口腔颌面部恶性肿瘤无论采用手术和（或）放射治疗，均能取得良好效果。但遗憾的是，大多数患者就诊时，已属局部一区域晚期（Ⅲ、Ⅳ期）。由于受到局部解剖和维持功能的限制，单纯通过扩大手术切除范围和改进现有手术技术，除能改善患者生存质量外，已无法提高此类患者的生存率，延长其生存时间。     

颈椎管哑铃形肿瘤的显微外科治疗

目的探讨不同入路显微手术切除颈椎管哑铃形肿瘤的手术方法,总结其主要优点和术后并发症情况。方法2004年5月至2006年7月共收治16例颈椎管哑铃形肿瘤,其中5例肿瘤最大径超过5cm。5例巨大肿瘤中4例位于上颈段,采用侧方改良的极外侧入路（后外侧肌间入路）, 1例外院手术复发的巨大肿瘤位于中颈段,采用分次后正中和前路联合切除并行后方和前方内固定加前方植骨融合;1例肿瘤椎管外部分向前方生长,采用颈前入路切除后行前方植骨融合加内固定,其余10例采用后正中入路,其中1例超过中线的肿瘤采用全椎板切除加椎管成形,7例半椎板切除, 1例复发肿瘤原路切除,1例未切除椎板切除肿瘤。结果手术全切肿瘤14例,次全切2例。所有病例术后症状均有明显改善,其中2例巨大肿瘤患者术后出现低氧血症,重新气管插管后逐渐恢复, 1例巨大肿瘤患者术后脑脊液漏皮下积液,经穿刺置管引流数日后恢复正常。其中12例随访9-18个月,无一例复发或出现脊柱不稳定的情况。结论对于颈椎管哑铃形肿瘤,应尽可能采用创伤小的手术方式,在切除肿瘤的同时,减少棘突、韧带、椎板以及小关节的破坏,减小创伤和对脊柱稳定性的破坏,预防脊柱后凸和侧凸畸形的发生。极外侧入路适用于微创切除体积较大的高颈段椎管哑铃形肿瘤,较小的肿瘤可以采用后正中入路半椎板开窗手术,对骨质破坏严重者需在切除肿瘤后行内固定手术。     

颈椎病伴椎管狭窄患者再手术问题探讨

目的：探讨颈椎病伴椎管狭窄患者再手术的原因、手术方式及其相关问题。方法：我院2002年7月～2003年12月对40例颈椎病伴椎管狭窄术后疗效不佳或症状复发的患者进行了后路多节段（5个或以上）减压手术。根据其手术治疗方式及影像学资料分析再手术原因，并进行术后疗效评价。结果：经前路手术者再手术的主要原因为：（1）伴有多节段颈椎管狭窄因素时，只选择部分压迫重的节段行减压融合15例；（2）经前路多节段（≥3个节段）减压融合后，相邻节段继续退变，出现新的脊髓压迫表现及椎间不稳定9例；（3）伴有OPLL时，行部分节段前路减压融合后，病变呈进展表现，产生或加重对脊髓的压迫8例。经后路手术者再手术的原因为：（1）后路减压节段不够5例（包括1例前后路联合手术者）；（2）后路减压不充分3例。再手术后随访1．3～2．7年，平均2．1年，所有患者脊髓功能获得一定的提高，JOA评分改善率为51．3％。结论：颈椎病伴椎管狭窄病例再手术的主要原因为椎管狭窄因素仍然存在，经后路多节段（5个或以上）减压手术治疗可彻底去除颈椎管狭窄因素，有效解除脊髓前、后方所受的压迫，可获得较满意的临床疗效。