间充质干细胞移植治疗新生儿支气管肺发育不良:机遇与挑战

支气管肺发育不良（BPD）是新生儿尤其是早产儿最常见的慢性肺部疾病，是导致早产儿预后不良的重要原因，目前临床使用的治疗手段仍然难以很好改善其预后。近年来，实验及临床研究发现间充质干细胞移植对BPD有一定疗效，可能成为未来最有希望的治疗手段。该文就间充质干细胞的特点、间充质干细胞移植治疗BPD的可能机制及临床试验的安全性和可行性，以及进一步相关临床研究面临的挑战进行阐述。     

支气管肺发育不良早产儿婴儿期预后研究

目的 探讨支气管肺发育不良（BPD）患儿婴儿期体格发育、呼吸系统常见疾病发生情况以及运动发育情况。方法 回顾性分析2012年1月至2015年12月入住新生儿重症监护室的BPD早产儿的临床特征和婴儿期结局，并与同期住院胎龄及出生体重相近但未发生BPD的早产儿进行比较，比较两组早产儿婴儿期生长发育和运动发育情况、住院次数以及肺炎、喘息等疾病的发生情况。结果 与非BPD组患儿相比，BPD组患儿出院时更容易发生宫外发育迟缓（48% vs 41%），且生后更容易发生肺炎、喘息、湿疹、鼻炎，因呼吸道感染再次住院次数增加，差异均具有统计学意义（P < 0.05）。矫正3月龄、6月龄及12月龄时BPD组患儿头围小于非BPD组（P < 0.05）。矫正6月龄及9月龄时BPD组患儿粗大运动、精细运动以及总发育商均落后于非BPD组患儿（P < 0.05）。结论 BPD患儿出院时容易发生宫外发育迟缓，头围增长相对缓慢，婴儿期易发生肺炎及喘息，而且矫正6月龄及9月龄运动发育落后于非BPD早产儿。     

Three by three weeks of robot-enhanced repetitive gait therapy within a global rehabilitation plan improves gross motor development in children with cerebral palsy – a retrospective cohort study

AimTo assess the improvement in gross motor function following three blocks of a three-week, intensive robot-enhanced treadmill therapy (ROBERT-Program).Methodretrospective chart review in a before-after interventional trial in children with cerebral palsy attending a university hospital outpatient rehabilitation centre. Patients received three blocks of a three-week, 12 sessions ROBERT-Program over a mean period of 24 months. Outcome measures were block specific and cumulative improvement in GMFM 66, D and E. Longterm GMFM 66 improvements were compared to the individuals' expected increment as derived from previously published GMFM-66 percentiles. 95% confidence intervals (CI) and paired t-test were calculated.Results20 children (8 GMFCS Level II; 12 GMFCS Level III, mean age 5.9 years (CI: [5.0; 6.7])) were treated. For each block a significant increase in motor performance in similar size could be observed without deterioration between blocks. The cumulative improvement during 21 months observation period was: 6.5 (CI: [4.8; 8.2]) in GMFM 66, which represents a clinically meaningful effect size of 3.6 (CI: [1.4; 5.8]) above the expected improvement.InterpretationProgressive clinically meaningful improvement in motor performance for three blocks of ROBERT-Program was observed. Cumulative GMFM 66 improvements exceeded the individuals' age-specific expected course.     

微阵列比较基因组杂交技术对不明原因智力低下/生长发育迟缓患儿的分子诊断

目的　分析不明原因智力低下(ID)和(或)生长发育迟缓(DD)患儿潜在的致病性基因组不平衡, 及其与表型的相关性, 探讨高密度微阵列比较基因组杂交技术(array-CGH)在临床分子遗传学诊断中的应用价值。方法　采用array-CGH技术对16例ID/DD患儿进行全基因组扫描分析, 并用多重连接探针扩增技术(MLPA)对检出的基因组不平衡异位进行验证。结果　16例患儿高分辨G显带核型分析均无异常。6例(38%)患儿存在基因拷贝数异常(CNVs), 其中3例CNVs为正常多态性改变; 1例CNVs涉及4p16.3区域微缺失, 考虑为Wolf-Hirschhorn综合征; 1例CNVs涉及7q11.23区域微缺失, 考虑为Williams-Beuren 综合征; 另1例CNVs临床意义不明确, 包含2个重复突变, 该突变与智力低下、脑发育迟缓、特殊面容、隐睾、牙列不齐等有关, 证实该CNVs具有临床意义。结论 通过array-CGH技术对不明原因ID/DD患儿进行全基因组扫描, 可为部分患儿明确病因诊断。该技术作为一种高通量、快速的疾病研究手段, 在ID/DD的病因诊断中具有重要的临床意义。     

Aberrant internal carotid artery causing objective pulsatile tinnitus and conductive hearing loss

Abstract Aberrant internal carotid artery (ICA) in the middle ear is a rare, dangerous vascular anomaly and conservative follow-up was usually adopted in most reported cases. Here we report the case of an 8-year-old girl with symptoms of objective pulsatile tinnitus and conductive hearing loss in the right ear. Otoscopic examination, computed tomography, and conventional angiography were performed. An aberrant ICA combined with a 'third mobile window' was suspected preoperatively and confirmed at exploratory surgery of the middle ear. The aberrant ICA was treated, and the pulsatile tinnitus disappeared and hearing recovered after the surgery. This case suggests that surgery is practical to relieve troublesome tinnitus and hearing loss in appropriate cases with aberrant ICA.     

Immunohistochemical localization of syndecan-1 in normal and pathological human uterine cervix

Expression of syndecan-1, a cell surface proteoglycan that binds growth factors and extracellular matrix components, was studied in normal and pathological human uterine cervix using immunohistochemical methods. Normal cervical squamous epithelium showed positive staining for syndecan-1 in all cell layers, except the basal cell layer, whereas endocervical columnar epithelium stained weakly. In non-neoplastic reactive lesions, metaplastic squamous cells were positive for syndecan-1, whereas columnar cells showed weak or negative staining. In cervical condylomas, cells showing koilocytotic atypia were positive for syndecan-1. The progression of cervical intraepithelial neoplasia (CIN) grade I to grade III was associated with reduced syndecan-1 expression and localization of syndecan-1 to more superficial cell layers. In squamous cell carcinomas (SCCs), syndecan-1 expression correlated with histological differentiation, being absent from most poorly differentiated tumours. The results suggest that loss of syndecan-1 from atypical cells is an early event during cervical carcinogenesis and show a close association of syndecan-1 expression with preserved epithelial morphology and differentiation.