Objective:To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3) levels and XLI. Methods:A total of 56 fetuses with Xp22.31 microdeletion indicated by prenatal diagnosis and 70 fetuses diagnosed with trisomy 21 and 26 fetuses with trisomy 18 in Henan Provincial People's Hospital and Affiliated Hospital of Weifang Medical College from September 2016 to June 2021 were collected. The multiples of median (MoM) values of uE 3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) during the second trimester of pregnancy were retrospectively analyzed. Prenatal diagnosis was made by amniotic fluid karyotype analysis and genome copy number variant analysis, parent genetic verification and pathogenicity analysis were performed, and maternal and infant outcomes were followed up. Results:Of 56 pregnant women with fetal Xp22.31 microdeletion, 43 underwent serological screening during the second trimester of pregnancy, of which 42 were abnormal (39 male fetuses and 3 female fetuses). The median uE 3 MoM value of 39 male fetuses [0.06 (0.00-0.21)] was lower than the normal value and significantly lower than that of fetuses with trisomy 21 [0.71 (0.26-1.27)] and fetuses with trisomy 18 [0.36 (0.15-0.84)], the difference was statistically significant ( Z=99.96, P<0.001). While the MoM values of AFP and hCG were all within the normal range. Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. Eighty-nine percent (50/56) were inherited from mother (49 cases) or father (1 case), and 11% (6/56) were de novo mutations. Follow-up showed 48 live births (38 males and 10 females) and 8 chose to terminate pregnancy (7 males and 1 female). Among the 38 male newborns, 37 presented with scaly skin changes from 1 to 3 months of age, and one had no clinical manifestations until 4 months after birth. Ten female newborns had no obvious clinical manifestations. Conclusions:The decrease levels of uE 3 MoM on maternal serological screening is closely related to the higher risk of XLI in male fetuses. For pregnant women with low uE 3 in serological screening or with family history of ichthyosis, in addition to chromosomal karyotype analysis, joint detection of genomic copy number variant analysis should be recommended.

BACKGROUND: Most of the patients with lung and (or) mediastinal occupying lesions are considered to be primary lung cancer clinically, and endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a commonly useful operation to obtain the tissue sample and get definitive diagnosis of pathological tissues. In the EBUS-TBNA process, cytological rapid on-site evaluation (C-ROSE) is a useful technology. The purpose of our study is to discuss the value of C-ROSE in the diagnosis of lung cancer by EBUS-TBNA sampling. METHODS: Retrospective analysis of 141 cases clinical data who were performed with EBUS-TBNA and suspected diagnosis primary lung cancer, which were found have mediastinal and (or) lung lesions (including the enlargement of the lymph nodes/mass) by computed tomography (CT). Among these patients, 81 patients were in the C-ROSE group and 60 patients were in the No C-ROSE group. The message of puncture and complication of EBUS-TBNA with or without C-ROSE were compared. At the same time, we analysis the sensitivity and specificity, positive predictive value, negative predictive value of C-ROSE combined with EBUS-TBNA in that of the diagnosis of lung cancer. RESULTS: We found no statistical difference of the needle passes between C-ROSE group and No C-ROSE group. But in C-ROSE group, specimen qualified rate and diagnostic yields were signicantly higher than No C-ROSE group (98.77% vs 90.00%, 88.89% vs 75.00%, P<0.05), the incidence of complications in the C-ROSE group was signicantly lower than that in the No C-ROSE group (1.23% vs 11.67%, P<0.05). The sensitivity, specificity, positive predictive value and negative predictive value of C-ROSE combined with EBUS-TBNA in the diagnosis of lung cancer are 92.21%, 100.00%, 100.00% and 40.00%. CONCLUSIONS EBUS-TBNA combined with C-ROSE can improve the specimen qualified rate and diagnostic rate, also can reduce the complications thus worthy of further promotion.
Endoscopic Ultrasound-Guided Fine Needle Aspiration ; methods ; Female ; Humans ; Lung Neoplasms ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Time Factors

Objective This research is aimed to investigate the efficacy and toxicity of icotinib for lung adenocarcinoma pa-tients with poor performance status and unknown EGFR gene status .Methods A total of 27 lung adenocarcinom patients with poor Eastern Cooperative Oncology Group-Performance status(ECOG-PS) and unknown EGFR gene status referred to Chongqing Canc-er Institute from August 2012 to August 2014 were analyzed .Icotinib (125 mg) was orally administered three times per day .Asess the efficacy and adverse reaction ,calculate survival rates .Results Among the 27 patients ,the objective response rate(ORR) and disease control rates(DCR) were 29 .6% and 81 .5% ,respectively .The median progression free survival time was 6 .0 months .A to-tal of 70 .4% of patients had an significant improvment in ECOG-PS scores ,following icotinib treatment (Z= - 2 .157 ,P= 0 .031) . Fatigue ,anorexia and diarrhea were the most frequent adverse reaction ,which defined as grade 1 to 2 rashes .Conclusion Lung ade-nocarcinoma patients with poor performance status and unknown EGFR gene status may benefit from icotinib therapy ,and patients were tolerated well .

Objective:To clone and express Mycobacterium tuberculosis(Mtb) Rv2460c gene(encoding ClpP2 protein),and evaluate the immunogenicity of its coding product. Methods: The recombinant plasmid of pET32a (+) vector-ClpP2 that H37Rv Rv2460c gene was cloned into the plasmid pET32a(+)vector,was transformed into E. coli BL21(DE3)and induced expression by IPTG,then purified by affinity chromatography. The recombinant protein was confirmed by SDS-PAGE and Western blot. The analysis of immunogenicity of Mtb ClpP2 and its epitope prediction were performed by bioinformatic methods. The antibody levels of polyclonal antibody titer against ClpP2 protein in rabbits and TB patients′ serum were detected by ELISA. Results: The recombinant ClpP2 protease was expressed as inclusion bodies in E. coli. The purity of purified protein was 93% by bandscan software analysis. The bioin-formatics analysis shows Mtb ClpP2 protein has multiple preponderant B cell and T cell epitopes. Rabbit antiserum titer was 1∶64 000;Serum anti-ClpP2 antibody levels in TB patients was higher than that in healthy control subjects. Conclusion:The recombinant ClpP2 protein was purified, and specific Rabbit anti-ClpP2 polyclonal antibody was prepared successfully. Experiment and bioinformatic information studies showed that Mtb ClpP2 protease has strong immunogenicity.

Objective To study liquid based cytology test and its application values in the detection of fiber bronchoscopic aspi‐rates .Methods LBP sedimentation type of ThinPrep cell production system combined with the conventional smear were used to de‐tect 2000 specimens of fiber bronchoscopic aspirates ,and conduct microscope observation and cytological diagnosis .Results Based on liquid based cytology cell production method ,there were 614 positive cases (30 .7% ) ,267 cases of squamous cell carcinoma (13 .4% ) ,and 217 cases of adenocarcinoma(10 .9% ) ,83 cases of small cell carcinoma (4 .2% ) ,and 47 cases of undifferentiated car‐cinoma (2 .4% ) .The diagnostic sensitivity for lung cancer of liquid‐based cytology test was 64 .6% and conventional smear was 49 .2% .We also found 7 cases of fungus positive ,35 cases of typical caseous necrosis with liquid based cytology test .Conclusion The ThinPrep cell production has a more clean background ,more intact cell structure ,more efficient observation and increased posi‐tive rate of detection of cancer cells than the smears made by traditional methods .A combination of two methods can increase the accuracy of cytological detection of fiber bronchoscope aspirates and positive detection rate ,and also can assist the diagnosis of fungi and TB infections .

Objective:To investigate the antigenicity of ClpC 2 and the feasibility of polyclonal antibodies of ClpC 2 as detected antibody.Methods:rClpC2 was induced with IPTG.The rClpC2 was identified by SDS-PAGE and Western blot ,and purified by affinity chromatography ,with which rabbit were immunized and the specificity of rabbit antiserum was detected by Western blot , the titer of rabbit antiserum against ClpC2 was detected by double immunodiffusion and indirect enzyme-linked immunosorbent assay (ELISA).The antigenicity of the rClpC2 was detected by ELISA.The polyclonal antibodies of ClpC 2 were prepared to detect the ClpC 2 in clinical serum of TB patients by ELISA.Results:SDS-PAGE showed specific protein band with a relative molecular mass of 46 kD.The rClpC2 could bind with the antibody in the blood serum of the mouse immuned by MTB.By Bandscan analysis rClpC 2 accounted for about 58.7%of the total bacteria protein ,the purity of rClpC2 was 88.5% after purification.The ClpC2 of BCG could bind with the rabbit antiserum.The titer of antiserum were 1∶32 and 1∶320 000 by double immunodiffusion and ELISA detected respectively.ELISA results showed that clinical serum positive rate of rClpC 2 antigen was 46%in TB patients,the sensitivity of this protein was 46%,and the spe-cificity of this protein was 90%.ELISA results showed that the sensitivity of rabbit antiserum against ClpC 2 was 40%, and the specificity was 90%.Conclusion: Successfully expressed and purified rClpC 2 and high titer polyclonal antibody were successfully prepared,and these results will provide basements for further study on the biological functions of ClpC 2 and its candidate potentiality as serological diagnosis and drug-target and biological functions of antiserum against ClpC 2.

Objective To investigate the relationship between glutathione S-transferases P1(GSTP1)Ile105Val and glutathione S-transferases M1(GSTM1)single nucleotide polymorphisms(SNP) and the sensitivity to chemotherapy among patients with ad-vanced non-small cell lung cancer(NSCLC) .Methods We used gene sequencing analysis to determine the SNP of GSTP1 Ile105Val and PCR analysis to GSTM1 in DNA from peripheral lymphocytes of NSCLC patients .Totally 89 patients with NSCLC were trea-ted with platinum-based chemotherapy ,and clinical response was evaluated after 2 cycles .The association between GSTP1 Ile105Val and GSTM1 SNP and chemosensitivity were analyzed .Results The overall response rate was 29 .2% .Chemotherapy re-sponse did not show statistically significant differences between the wild genotypes and the variant genotypes for the GSTP1 Ile105Val and GSTM1 gene(P>0 .05) .Conclusion The polymorphisms of GSTP1 Ile105Val and GSTM1 may be not associated with sensitivity to chemotherapy in NSCLC patients .

Objective To assess the effect of the Asthma Healthy Breathing Center on healthy behaviour of asthma patients . Methods Asthma Healthy Breathing Center management mode including asthma specialist out-patient ,asthma health mission cen-ter and asthma patients club .Doctors ,nurses and patients participated jointly in standard treatment ,systematic education manage-ment on asthma patients .the change of treating patients and self management present situation ,the symptoms and lung ventilation function of 144 asthma patients from January 2010 to January 2011 before and after the management were studied .Results After standardization management treatment ,accept and use of inhaled steroid ,correct use of inhaled drugs method ,insisting on drug treatment ,abuse of antibiotics and composition of unknown traditional Chinese medicine(TCM)of 144 patients have been improved significantly from 41 .67% ,20 .14% ,26 .39% ,68 .75% to 93 .06% ,95 .14% ,94 .44% ,6 .25 respectively (P<0 .05) .Knowledge of asthma self-management ,adhere to the peak current meter monitoring used ,records of asthma diary ,health education activities have been improved significantly from 12 .50% ,5 .56% ,5 .56% ,13 .89% to 75 .00% ,88 .89% ,88 .89% ,95 .83% (P<0 .05) .ACT as-sessment ,FEV1 predicated value ,PEF predicated value have been improved from 15 .00 ± 3 .34 ,60 .2 ± 13 .50 ,63 .65 ± 11 .23 to 23 . 00 ± 2 .23 ,77 .6 ± 8 .30 ,80 .00 ± 6 .50(P<0 .05) .Conclusion Establishing Asthma Healthy Breathing Center can significantly im-prove the patient′s health behavior ,and it indicated that establish Prompt construction area slow disease control and prevention cen-ter is effective and necessary for the treatment of patients with asthma .

Objective To investigate the CT characteristics of anaplastic thyroid carcinoma and evaluate the diagnostic value of CT in this disease.Methods The CT findings of 10 patients with pathologically proved anaplastic thyroid carcinoma were retrospectively reviewed.The patients included 7 females and 3 males.Their age ranged from 25.0 to 78 years with median of 61 years.Multi-slices plain and post contrast CT scans were performed in all patients.Results Unilateral thyroid was involved in 6 patients.Unilateral thyroid and thyroid isthmus were both involved in 2 patients due to big size.Bilateral thyroid were involved in 2 patients.The maximum diameter of anaplastic thyroid carcinoma ranged from 2.9-12.8 cm with mean of (4.5 ± 1.4) cm.All lesions demonstrated unclear margins and envelope invasion.The densities of all lesions were heterogeneous and obvious necrosis areas were noted on precontrast images.Seven lesions showed varied calcifications,and coarse granular calcifications were found in 5 lesions among them.All lesions showed remarkable heterogenous enhancement on post-contrast CT.The CT value of solid portion of the tumor increased 40 HU after contrast media administration.The ratios of CT value which comparing of the tumor with contralateral sternocleidomastoid muscle were 0.69-0.82 (0.76 ± 0.18)and 1.25-1.41 (1.33 ± 0.28)on pre and post CT,respectively.Enlarged cervical lymph nodes were found in 6 cases (60.0％).It showed obvious homogeneous enhancement or irregular ring-like enhancement on post-contrast images and dot calcifications were seen in 1 case.Conclusions Relative larger single thyroid masses with coarse granular calcifications,necrosis,envelope invasion,remarkable heterogeneous enhancing and enlarged lymph nodes on CT are suggestive of anaplastic thyroid carcinoma.

Objective To investigate the clinical features and magnetic resonance imaging (MRI)findings of patients with Hirayama disease simply presenting proximal upper extremity muscular atrophy.Methods Three patients with Hirayama disease simply presenting proximal upper extremity muscular atrophy received cervical spine MRI on neutral and flexion position. The relationship between MRI findings and their clinical symptoms were analyzed. The outcomes were compared with those of 43 patients who were diagnosed as Hirayama disease with muscular atrophy at the hand and forearm. Results 1) Clinical features:three patients were young men. The disease was characterized by unilateral weakness and atrophy of the proximal upper limbs, such as pectoralis major muscle, deltoid muscle, and biceps brachii muscle. Electromyogram (EMG) showed bilateral upper extremities neurogenic damage. 2) Cervical spine MRI findings:cervical spine kyphosis without spinal cord compression was found on neutral position. On flexion position,anterior shifting of C3-C5 cervical cord and the posterior wall of dural sac were found; C4-C5 cervical cord was compressed by vertebral body or intervertebral disc or dural sac. Engorged posterior internal vertebral venous plexus were observed in epidural space. In the 43 patients who were diagnosed Hirayama disease with muscular atrophy at the hand and forearm, similar MRI findings were found, while cervical cords compression were at C6-C7 level. Conclusion Hirayama disease could present as proximal upper extremity muscular atrophy and weakness, such as pectoralis major muscle, deltoid muscle, and biceps brachii muscle.Neglecting of this will result in diagnostic errors or missed diagnosis. Flexion position MRI is an important base of early diagnosis of Hirayama disease.