目的观察孤独症康复治疗的疗效。方法对16例孤独症患儿进行感觉统合训练,内容根据年龄和感统量表制定,以运动训练和感觉刺激为主。结果经过6个疗程的治疗,16例患儿在语言交流、人际关系、动作行为和个人能力等方面均有明显进步。结论综合康复治疗有助于孤独症儿童进入良好的学习状态,改善交往能力和行为问题,以适应社会,具备和完善社会功能。

Immune checkpoint inhibitor (ICI) has become one of the important therapeutic strategies for the patients with advanced non-small cell lung cancer (NSCLC). The latest clinical studies have shown that immunotherapy can bring more survival benefits to patients with early lung cancer and operable patients with locally advanced lung cancer. However, the strategies of neoadjuvant immunotherapy, the timing of operation, the evaluation system of curative effect, predictive markers and other problems still need to be explored in the clinical practice of large samples. This paper reviews the progress of neoadjuvant immunotherapy in NSCLC.

Objective To examine the preventive effect of magnesium sulfate on hypertension caused by ACTH in the treatment of infantile spasms (IS). Methods 46 children diagnosed as IS were recruited from two hospitals during May, 2011 to October, 2013.23 patients in group A (treatment group) were treated with magnesium sulfate and ACTH in hospital A;another 23 cases in group B (control group) were treated with ACTH only in hospital B. The therapy course was 2 weeks. Results Hyperten-sion was not observed in the treatment group, while 6 children were observed with hypertension in the control group. There was signiifcant difference between the two groups (P<0.05). Conclusions Magnesium sulfate could prevent the incidence of hyper-tension in the treatment of IS with ACTH, and beneift the completion of treatment course.

Objectives To explore polymorphisms of CD152 gene promoters (-1722T/C,-1661A/G) and exon1 (+49A/G) in children with idiopathic ischemic stroke and assess the association between these polymorphisms with the disease. Methods Us-ing the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, polymorphisms in the CD152 exon1 region (+49A/G) and promoter regions (-1722T/C,-1661A/G) were genotyped in 51 Han children with idiopathic ischemic stroke and 74 healthy Han children. Results The CD152 genotypes in control group and idiopathic ischemic stroke children were consistent to principle of Hardy-Weinberg Equilibrium (HWE) byχ2 test. The CD152+49GG genotypes and G allele frequency in the patients showed a signiifcant increase compared to the controls (χ2=7.053, 6.351, P<0.05). However, the CD152-1722T/C,-1661A/G genotypes and allele frequency showed no signiifcant difference between 2 groups (P>0.05). Clinical features (hemi-paresis, dysarthria, seizures, consciousness change, and preceding infections) did not show signiifcant correlation with genotypes and frequency of the CD152+49 polymorphisms in children with idiopathic ischemic stroke (P>0.05). Conclusions The CD152+49A/G polymorphisms may relate to idiopathic ischemic stroke.

Objective To study the cytogenetic features of acute myeloid leukemia (AML) and analyze the association with cytogenetic features and early responses after induction therapy.Methods The karyotypes of 395 patients who had been newly diagnosed with AML were analyzed.These patients were divided into three groups (low-risk,intermediate-risk and high-risk),according to the AML NCCN guidelines.The incidence of different karyotypes in these three groups and the complete remission (CR) rate after the first cycle of induction therapy were analyzed.Results The incidence rates of karyotypes in high-risk,intermediate-risk and low-risk groups were 50.56 ％ (180/356),39.89 ％ (142/356),9.55 ％ (34/356),respectively.All patients with t(15;17) who completed induction therapy reached CR.There was significant difference in the CR rates of t(8;21) groups with or without additional karyotypes [92.00 ％(23/25) vs 50.00 ％(11/22)] (x2 =10.317,P =0.001).There was no significant difference in the CR rates between normal and-Y karyotype group [61.90 ％ (39/63) vs 58.82 ％ (10/17)] (x2 =0.054,P =0.817).Complex cytogenetics ascribed to the low-risk group,of which monosomal karyotype was common,nine of ten patients with monosomal karyotype were associated with an inferior CR rate.Conclusion The cytogenetic features of AML are different from previous reports by other centers.The cytogenetic features of AML patients not only influence the long-term survival,but also the CR rates of induction therapy.

Objective To explore the clinical characteristics and prognosis of acute myeloid leukemia (AML) patients with CCAAT/enhancer binding protein α (CEBPA) mutations.Methods 208 patients with de novo AML were retrospectively analyzed with regard to frequency of CEBPA mutations,clinical characteristics,therapeutic response and long-term outcome.Results CEBPA mutations were detected in 37 patients (17.8 ％),with 29 cases of double mutations and 8 cases of single mutation.In 117 cases of patients with normal karyotype,28 cases (23.9 ％) were detected with CEBPA mutations.As compared with no CEBPA mutation,the following characteristics were observed in patients with CEBPA double mutations.Presented with younger age at diagnosis,82.8 ％ (24/29) of the patients were M1 and M2.Presented with higher peripheral white blood cell count,higher hemoglob in and low platelet count.And increases of CD7,CD34 and HLA-DR expression.Compared with those without mutation,patients with biCEBPA mutations had better overall survival (OS) (2-years OS:100 ％ vs 75.1％,P =0.045).Conclusion BiCEBPA mutation is one of the favorable prognosis indicators.

Objective To evaluate the efficacy and safety of bortezomib-based chemotherapy and MPT regimen in the MM patients who were newly diagnosed or relapsed/refractory. Methods Twenty-seven MM patients were treated with bortezomib-based chemotherapy, median cycles:3 (range 1-5 cycles). Other 30patients received MPT chemotherapy. EBMT and WHO criteria were used to evaluate the therapeutic effects and the adverse effects, respectively. Results Bortezomib group: 21 patients (77.8 %) showed effects after the first cycle chemotherapy and 24 patients (88.8 %) showed effects after the whole therapy. In wich, 15 patients(94.0 %) and 9 patients (82.0 %) were newly diagnosed and relapsed/refractory, respectively. MPT group: 15patients (50.0 %) showed effects after the whole therapy. In wich, 12 patients (44.0 %) were newly diagnosed.And the other 3 were relapsed/refractory patients. The ORR in Bortezomib group was better than MPT group (P ＜0.05). The incidence of peripheral neuropathy, herpes and Ⅲ - Ⅳ grade thrombocytopenia in the bortezomib group was 10 patients (37.0 %), 7patients (26.0 %), 10 patients (37.0 %) respectively,and they were more common than MPT group, but the incidence of Ⅲ-Ⅳgrade anemia was 21 patients (70.0 %) and more comumom in the MPT group. The theraputic efficacy of bortezomib for renal insufficiency and normal renal function patients was similar, and no significant increase in all kinds of adverse effects. In MPT group,there were 4 patients with renal insufficiency, the serum level of creatinine in the 3 patients returned to normal after 5 cycles therapy. Conclusion Bortezomib-based chemotherapy is more effective than MPT regimen in the treatment of MM. The newly diagnosed, relapsed/ refractory and with renal insufficiency patients all can benefit from it. The adverse effects are mild and with better tolerance.

Objective:To determine the derivative chromosome 9 by the method of detecting the ASS gene,and to explore the relationship between the deletion of derivative chromosome 9 and the efficacy and prognosis of the chronic myeloid leukemia (CML)patients. Methods:The materials of 34 CML patients with positive BCR-ABL fusion gene whose ASS genes were detected were retrospectively analyzed. All patients were treated with Extra-signal (ES)probe to detect the derivative chromosome 9.All patients were divided into two groups according to whether they carried the derivative chromosome 9.The blastic phase or the accelerated phase rates in two groups were compared by using Fisher exact probability. Results:All patients were detected by FISH (BCR-ABL ES probe),and all the BCR-ABL fusion signals were positive.6 of 34 patients were found the deletion of ASS gene, among them 1 case blonged to chronic phase,and 5 cases developed into blastic phase or accelerated phase. In the patients without ASS gene deletion,there were 22 cases in chronic phase,and 6 cases in plastic phase or accelerate phase,there was significant difference of blastic phase rate/accelated phase rate between them (P<0.05).A total of 26 patients were treated with tyrosine kinase inhibitors (TKI).5 of 26 patients belonged to the ASS gene deletion group,1 of 5 patients treated with TKI got molecular remission,4 of 5 patients developed into blastic phase or accelerated phase.21 of 26 patients belonged to the group without ASS gene deletion,and among them,19 cases got molecular remission,2 cases developed into plastic phase or accelerated phase after treatment of TKI,there was significant difference between them (P < 0.05 ). 6 patients were treated with traditional chemotherapy (hydroxyurea,interferon);1 of 6 patients belonged to the ASS gene deletion group,finally developed into the blastic phase or accelerated phase;5 of 6 patients belonged to the group without ASS gene deletion,2 cases got the hematological remission,and 3 patients developed into blastic phase or accelerated phase after treatment,and there was no significant difference of blastic phase rate/ accelerated phase rate between them (P > 0.05 ). Conclusion:The CML patients with derivative chromosome 9 (ASS gene deletion)prone to get disease progression, and have a higher proportion in the blastic phase or accelerated phase patients.Derivative chromosome 9 is related to the bad treatment efficacy of TKI and the poor prognosis of CML.

Small cell lung cancer (SCLC) is a highly malignant tumor with a very poor prognosis; therefore, more effective treatments are urgently needed for patients afflicted with the disease. In recent years, emerging molecular classifications based on key transcription factors of SCLC have provided more information on the tumor pathophysiology, metastasis, immune microenvironment, and acquired therapeutic resistance and reflected the intertumoral heterogeneity of the various SCLC phenotypes. Additionally, advances in genomics and single-cell sequencing analysis have further revealed the high intratumoral heterogeneity and plasticity of the disease. Herein, we review and summarize these recent lines of evidence and discuss the possible pathogenesis of SCLC.
Humans ; Small Cell Lung Carcinoma/genetics* ; Lung Neoplasms/genetics* ; Prognosis ; Genomics ; Phenotype ; Tumor Microenvironment

Lynch综合征（Lynch syndrome，LS）是一种常染色体显性遗传病，是由于几种DNA错配修复（mismatch repair，MMR） 基因（MLH1、MSH2、MSH6、PMS2）中的一种出现种系突变，或由于EPCAM基因缺失导致MSH2表达丢失引起。LS是遗传性结 直肠癌（colorectal cancer，CRC）最常见的原因，其特征为患CRC和子宫内膜癌（endometrial cancer，EC）的风险显著增加，且存在 发生其他几种恶性肿瘤的风险。对于LS 的诊断，目前几种临床病理学标准（如阿姆斯特丹标准等）已被用于识别存在Lynch综合 征风险的个体。然而，这些标准的敏感性及特异性有限，仍有赖于临床医生对LS的警惕并关注其家族史。伴有MMR基因变异 的LS相关肿瘤通常具有微卫星高度不稳定的特征，由于移码突变新抗原的存在，可以激发强大而持久的免疫反应和肿瘤浸润淋 巴细胞浸润，所以对于LS患者，免疫检查点抑制剂将会是一种很有前景的治疗方法。由于LS是一种基因遗传病， 与DNA错配修 复缺陷具有独特关系，对其的充分理解对相关肿瘤的诊断、预防和治疗具有重要的临床意义。