Dural infolding during C1-2 myelography

Inward buckling of the dura at C1-2 may occasionally occur with hyperextension of the neck and can result in a difficult or unsuccessful puncture when the posterior lateral C1-2 approach is used for cervical myelography. In this circumstance, placement of the head in a neutral or slightly flexed position may widen the posterior subarachnoid space and facilitate the needle puncture.     

生殖腺及生殖腺外畸胎瘤的超声诊断

目的；探讨超声对各部位畸胎瘤的诊断价值。方法：对42例经手术及病理证实的畸胎瘤与超声检查结果对照，并回顾分析其声像特征。结果：畸胎瘤具有一些特征性声像图表现，其肿块检出率100％，诊断符合率89．8％，其中生殖腺畸瘤诊断符合率96．8％，生殖腺外畸胎瘤诊断符合率82．0％。结论：畸胎瘤的超声诊断符合率较高，应为目前首选检查方法。少见部位畸胎瘤因认识不足易造成误诊，良恶性的鉴别亦存在误差。     

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

Autosomal recessive nonsyndromic hearing impairment (ARNSHI) segregating in three unrelated, large consanguineous Pakistani families (PKDF528, PKDF859 and PKDF326) is linked to markers on chromosome 12q14.2-q15. This novel locus is designated DFNB74 . Maximum two-point limit of detection (LOD) scores of 5.6, 5.7 and 2.6 were estimated for markers D 12 S 313, D 12 S 83 and D 12 S 75 at θ = 0 for recessive deafness segregating in these three families. Haplotype analyses identified a critical linkage interval of 5.35 cM (5.36 Mb) defined by D 12 S 329 at 74.58 cM and D 12 S 313 at 79.93 cM. DFNB74 is the second ARNSHI locus mapped to chromosome 12, but the physical intervals do not overlap with one another. A locus contributing to the early onset, rapidly progressing hearing loss of A/J mice ( ahl4 , age-related hearing loss 4) was reported to map to chromosome 10 in a region of conserved synteny to DFNB74 , suggesting that ahl4 and DFNB74 may be due to mutations of the same gene in these two species.     

龙岩市1995～2000年涂阳肺结核病人随访研究

目的：分析福建省龙岩市结核病控制五年效果。为结核病控制可持续发展提供技术政策依据。方法：收集并分析1995年-2000年福建省龙岩市肺结核月报表和年报表及有关资料，采用队列分析方法对登记治疗管理的初，复治涂阳肺结核病人进行分析。结果：1995年-2000年涂阳肺结核病人发现率从4.9/10万上升到22.7/10万；初治涂阳治愈率从63.4%上升到95.8%；复治涂阳病人治愈率从50%上升到85.6%。结论：涂阳肺结核病人的高发现率和高治愈率是因为1999年开始实施结核病归口管理和DOTS策略，应以持续发燕尾服。     

实施现代结核病控制策略对传染性肺结核患者发现与治疗效果的影响

目的：分析实施DOTS策略对传染性肺结核病例发现与治疗效果的影响。方法：通过对1995—2000年分批实施的卫生部加强与促进结核病控制项目、WHO西太区结核病控制项目及福建省结核病控制项目资料进行分析。结果涂阳病例新登记率由1995年的6．3／10万提高到2000年的19．0／10万，涂片阳性占活动性病例比例由21．5％提高到37．4％，新发涂阳病例治愈率由80．7％提高到89．2％，病例丢失率由7．3％下降到2．7％，治疗失败率由6．9％下降到1．4％。流动人口传染性肺结核病例治愈率仅59．7％。结论：实施DOTS策略，重视流动人口结核病治疗管理，提高涂阳病例发现率、治愈率，减少病例丢失和治疗失败，有效控制结核病。     

Clinical significance of autoantibodies in a large cohort of patients with chronic graft‐versus‐host disease defined by NIH criteria

There is an unmet need for identifying new clinical biomarkers in chronic Graft‐versus‐Host‐disease (cGVHD) suitable for diagnosis and disease monitoring. Circulating autoantibodies represent an ongoing immune response and suggest a pathogenic role for B cells in cGVHD. Autoantibodies could be useful markers of cGVHD disease activity, severity, or organ specificity; however, their clinical utility is not established. The focus of this study was to determine the incidence and associations of a broad array of clinical autoantibodies with cGVHD manifestations in a large patient cohort characterized by NIH criteria. A panel of 21 circulating antibodies commonly used in clinical medicine was tested in 280 cGVHD patients (70% severe) enrolled in a cross‐sectional prospective natural history study. Median cGVHD duration was two years. Patients with circulating autoantibodies (62%) had significantly higher levels of IgM (P < 0.0001), IgG (P < 0.0001), and IgA (P = 0.001), elevated uric acid (P = 0.008) and total protein (P = 0.0004), and higher numbers of CD3+ (P = 0.002), CD4+ (P = 0.001), CD8+ (P = 0.023) T cells, and CD19+ B cells (P < 0.0001). Multiple antibodies were detected in 35% of patients. Prior rituximab therapy (n = 66) was associated with reduced presence of autoantibodies (48 vs. 66% P = 0.01). Only oral cGVHD was significantly associated with presence of autoantibodies in this study (P = 0.028). No significant associations were found between cGVHD activity and severity, and presence of autoantibodies. Circulating autoantibodies are common in patients with advanced cGVHD. Their presence is associated with better quantitative immunologic reconstitution but does not have utility as a clinical biomarker of cGVHD. Am. J. Hematol. 90:114–119, 2015. © 2014 Wiley Periodicals, Inc.     

Unresolved questions regarding human hereditary deafness

Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. This review on hereditary deafness focuses on three examples considered at first glance to be uncomplicated, however, upon inspection, are enigmatic and ripe for future research efforts. The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive clinical variability associated with TBC1D24 mutations. At present, it is unknown how different mutations of TBC1D24 cause non‐syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by d eafness, o nychodystrophy (alteration of toenail or fingernail morphology), o steodystrophy (defective development of bone), mental r etardation, and s eizures. A comprehensive understanding of the multifaceted roles of each gene associated with human deafness is expected to provide future opportunities for restoration as well as preservation of normal hearing.     

A proposal for applying molecular markers as an aid to identifying potential cases of imported tuberculosis in immigrants

In recent years, the percentage of tuberculosis (TB) cases in immigrants in Spain has increased markedly. In this context, discrimination between cases with potentially imported TB and cases likely to have acquired it by recent transmission after arrival is a basic issue. In this study, we evaluated molecular markers to obtain information on the geographic origin of Mycobacterium tuberculosis (MTB) strains and to determine whether they could help to identify imported TB cases. We analyzed the pks15/1 gene, spoligotype, and MIRU locus 24 in 168 MTB isolates from immigrants of 32 nationalities and from a selection of autochthonous cases. In non-Asian immigrants we could not detect major differences with the autochthonous cases. For the Asian cases, we found some specific features for these markers. pks15/1 was intact in 69% of the Asian patients, but this gene had a 7-bp deletion in all non-Asian and Spanish (non-Beijing) cases. The spoligotype-defined lineages EAI and CAS, and the allele with two repetitions in MIRU locus 24 was found exclusively among Asian immigrants. The analysis of certain bacterial molecular markers could help to discriminate between potentially imported TB cases and those more probably acquired in the host country.