Objective To investigate the expression of HOXB4 gene in patients with myelodysplastic syn-dromes(MDS)and its clinical significance in disease progression.Methods mRNA expression of HOXB4 gene in bone marrow mononuclear cells was detected by real-time fluorescence quantitative PCR(RT-qPCR),and the difference in HOXB4 expression was compared between 49 patients with MDS(MDS group)and 35 patients without MDS(group C).The relationship of mRNA expression of HOXB4 with disease characteristics and clinical prognosis was explored in MDS patients.Results mRNA expression level of HOXB4 gene was higher in MDS group than that in group C(P＜0.05).The patients were divided into a high-and a low-expression group according to the median expression level of HOXB4.Leukocyte count was lower in the high-expression group in the low-expression group at the time of initial diagnosis.The proportion of patients with subtypes of primitive cellular hyperplasia,poor prognostic staging and leukemic transformation was higher in the high-expression group than in the low-expression group.Conclusions mRNA expression level of HOXB4 gene has certain relation with AML transformation in MDS patients.

Objective: To investigate the core information about tuberculosis prevention and control knowledge among residents in Jiangxi Province, so as to provide insights into formulation of health education strategy for tuberculosis prevention and control. Methods: Permanent residents at ages of 15 years and older were sampled from Jiangxi Province using a multi-stage stratified cluster sampling method from January to June 2021. Participants' demographic features and access to health education for tuberculosis prevention and control were collected through questionnaires, and the awareness of core information about tuberculosis prevention and control was investigated according to Key Points for Core Information and Knowledge about Tuberculosis Prevention and Control (2016 version). Results: A total of 1 280 questionnaires were allocated, and 1 217 valid questionnaires were recovered, with an effective recovery rate of 95.08%. The respondents included 605 men (49.71%) and 612 women (50.29%), and had a mean age of (50.05±15.78) years. The overall awareness of core information of tuberculosis prevention and control was 80.46%, and the awareness rates of “Pulmonary tuberculosis is suspected and timely healthcare-seeking is required if you have cough or expectoration for more than 2 weeks”, “Pulmonary tuberculosis is mainly transmitted via respiratory tract, and everyone is likely to be infected”, “No spit anywhere, covering mouth and nose when coughing or sneezing, and wearing a mouth mask may reduce the transmission of pulmonary tuberculosis”, “Pulmonary tuberculosis is a chronic infectious disease that poses a long-term damage to health” and “Most patients may be cured and others are avoided to be infected following standard whole-process treatment” were 90.22%, 86.52%, 85.95%, 80.03% and 59.57%, respectively. There were 491 respondents that were aware of all core information about tuberculosis prevention and control (40.35%), and network was the predominant route for acquiring health education about tuberculosis prevention and control (62.08%, 586/944). Conclusions The overall awareness of core information about tuberculosis prevention and control did not achieve the target set in the 13th Five-year Plan for Tuberculosis Prevention and Control, and the awareness of tuberculosis treatment-related knowledge was low.

OBJECTIVE: To retrospectively analyze non-invasive prenatal screening (NIPS) data from two centers. METHODS: The NIPS results of 10 840 samples were analyzed, including 21/18/13 trisomies (T21/T18/T13), sex chromosome and other autosomal aneuploidies, and copy number variants (CNVs). The maternal age, gestational week, body mass index and concentration of free fetal DNA (cffDNA) were also analyzed. RESULTS: The average gestational age of the 10 840 pregnant women was (32.34±5.04) year old, and the average gestational week for NIPS was (17.60±3.55) week. The overall false positive rate for T21/T18/T13 was 0.11%, sensitivity was 100%, specificity was 99.89%, and positive predictive value was 81.5%. The positive predictive values for sex chromosome and other autosomal aneuploidies and CNVs were 56.67%, 11.76% and 83.33%, respectively. The incidence of T21/T18 in the elder women (35 years or elder) was 2.12 times(P<0.01) and 1.81 times (P> 0.05) that of young women. cffDNA was in proportion to gestational week (r = 0.207) and in inverse proportion to body mass index (r = -0.177). It has increased slowly before 15 weeks of gestation and thereafter at a rate of 0.5% per week after the 16th week. CONCLUSION The performance of NIPS in this study is by large close to the reported in the literature, and the results can provide a reference for further study.

Objective:To investigate characteristic CT manifestations of primary pulmonary diffuse large B-cell lymphoma (DLBCL).Methods:CT images of 14 patients [10 males and 4 females, age （54±2） years old, range 32 to 91] with pathologically-proved pulmonary DLBCL lymphoma were retrospectively analyzed．Plain CT and contrast enhanced CT imaging were performed in all 14 patients. Image characteristics including lesion size, locations and distribution, morphology and margin, density and enhancement degrees, bronchia and lesion surroundings, other thoracic extra-pulmonary manifestations, as well as distant metastasis were analyzed and recorded. The maximal diameter of mass and/or nodules, pre and post-contrast CT values were measured. Among all 14 cases, 8 cases were initially diagnosed as lung carcinoma, 5 cases as infection, one case as lymphoma.Results:Among all 14 primary lung DLBCL cases, there were 10 case with multiple lesions and 4 with single lesion. Masses and/or nodules were found in 12 cases, with the maximum diameter of the lesions as 0.8-8.2 cm, the median value as 5.3 (2.9, 7.8) cm. Two cases showed simple consolidation. The margins of the lesions were clear and smooth in 12 cases, and fuzzy in 2 cases. The density of the lesions on pre-contrast CT was relatively uniform, with mean CT value (35.1±1.0) HU. After contrast, 10 cases displayed mild to moderate homogeneous enhancement, 4 cases showed heterogenous enhancement. The mean CT value of post-contrast images was (61.8±1.5) HU. In arterial phase, the mean CT value was (50.9±1.3) HU. Angiographic sign was found in 9 cases in arterial phase. Of the 14 cases, bronchus was clear and smooth in 5 cases. In 4 cases, bronchus was found slight compressed or stenosis; and 5 cases showed intra-lesion bronchi invasion or occlusion. Interstitial tissue around the lesion was found slightly thickened in 8 cases. The pleura showed unevenly thickened and invaded in 8 cases. Mediastinal or hilar lymphadenopathy and fusion were found in 10 cases, with 3 cases involving mediastinal large blood vessels, and 7 cases displaying infiltrative growth pattern. There were 4 cases with pleural effusion. CT follow-up after treatment in 8 cases showed no distant metastasis (7 cases showed good prognosis, with lesions disappearing after radiotherapy, chemotherapy or surgical resection; 1 case showed progressed with lesion increased after chemotherapy). Six patients abandoned the treatment and discharged from the hospital.Conclusions:Primary DLBCL is a high invasive and malignant entity with certain CT characteristics. The confirmed diagnosis of pulmonary DLBCL depends on pathological results.

Objective To explore the method and clinical effects of treatment for correcting severe contracture nasal deformity after rhinoplasty.Methods Totally 19 patients with severe contracture nasal deformity after rhinoplasty were treated with a new procedure in our hospital since March 2014.The soft tissue was treated with manual traction preoperatively to improve nasal skin and mucosa extensibility and flexibility.The costicartilage was taken as structure transplantation to build the nasal support structure.Results This group of patients were followed up for 5-27 months,contracture of nasal deformity was corrected and the shape of the nose was improved with no obvious contracture deformation.Conclusions Nasal shape is improved by nasal scaffold and coated tissue.It is a simple and feasible method to modify the condition of soft tissue by manual traction and autogenous costicartilage support reconstruction to ensure the long-term efficacy of backing;two combination therapy for correction of iatrogenic contracture nasal deformity can achieve better long-term nasal prolonged postoperative effect,which is suitable for clinical promotion.

Objective To explore the comprehensive approach and efficacy of secondary unilateral cleft rhinoplasty by using autologous costal cartilage grafts.Methods Secondary rhinoplasty was performed in 28 patients with unilateral cleft-lip nasal deformity.The costal cartilage was harvested through a mini-invasive incision.Septal deviation was corrected,and nasal tip framework was reconstructed with the autologous costal cartilage through direct transcolumellar incision.Diced cartilage fragments were used to augment the depressed alar base.Nasolabial muscles were repositioned to restore the balance of muscular tension system.Results The appearance of the nasal deformity was greatly improved in all the 28 cases postoperatively by follow-up from 3 to 12 months.Increased stability and symmetry of the nasal tip,along with the improvement of nasal breathing function was achieved and sustained effectively.Conclusions Definitive secondary unilateral cleft rhinoplasty using autologous costal cartilage grafts provides good aesthetic and functional results.

Objective To study the clinical value of simultaneous amplification and testing for detection of Mycobacteria tuberculosis(SAT-TB)in sputum samples and bronchoalveolar lavage fluid(BALF)samples. Methods Totally 169 sputum samples and 151 BALF samples from suspected pulmonary tuberculosis patients were detected by both SAT and Bactec MGIT960.The sensitivity,specificity,positive predictive value(PPV)and negative predictive value(NPV)of the samples using SAT-TB were calculated. Results Taken the results of BD960 as the reference,the sensitivity,specificity,PPV and NPV using SAT-TB of sputum samples were 84.00% (42/50),93.06%(67/72),89.36%(42/47)and 89.33%(67/75)respectively;and those of BALF samples 89.19% (33/37),95.12%(39/41),94.29%(33/35)and 42.39%(39/92)respectively.Taken clinical diagnostic results as reference standard,the sensitivity,specificity,PPV and NPV using SAT-TB of the sputum samples were 57.73% (56/97),93.06%(67/72),91.80%(56/61),and 62.04%(67/108)respectively;and those of BALF samples 51.82%(57/110),94.29%(39/41),96.61%(57/59)and、42.39%(39/92)respectively.The sensitivity,specificity, PPV and NPV using BD960 of the sputum samples were 51.55%(50/97),95.83%(69/72),94.34%(50/53),and 59.48%(69/116)respectively;and those of BALF samples 33.64%(37/110),90.24%(37/41),90.24%(37/41) and 33.64%(37/110)respectively.Conclusion SAT-TB is a rapid and sensitive method for the detection of Myco-bacteria tuberculosis in sputum and BALF samples.It can improve the detection rate of mycobaterium tuberculosis.

Objective To compare the efficacy between autologous fat and hyaluronic acid in filling nasolabial grooves.Methods Sixty patients who wanted improvement of nasolabial grooves were involved in the study.They were randomly and equally classified into two groups:autologous fat injection group and hyaluronic acid injection group.Photographs were taken before,half a year,and one year after injection.The nasolabial grooves were also graded before,half a year,and one year after injection.The grade improvement was obtained after postoperative grade minus preoperative grade.If the grade improvement was more than 1 grade,the treatment was regarded as effective to evaluate the outcome between the two methods.Results The results of the two groups were tested by SPSS 13.0 software.The effects of the two methods were not significantly different after half a year of filling (P＞0.05).The difference was significant one year after filling (P＜0.05).In autologous fat injection,the patients had a long and magnificant swelling and redness around the nasolabial grooves;on the contrary,the patients who underwent hyaluronic acid had slight and short-time local reaction like swelling and redness.No other serious complications were found in both the groups.Conclusions The effects of the autologous fat and the hyaluronic acid are equal after half a year of filling.The autologous fat has a longer effect in one year.Both methods are safe and effective.Surgeons can select the method accordingly.

Objective To analyze the clinical efficacy and technical key points of genioplasty for the deformities of the chin.Methods 153 patients with chin deformities were treated with the genioplasty,and the chin was moved in any direction,including sagittally,vertically and transversely;the key points of this procedure were summarized.Results There was no severe complication such as infection or nonunion observed.15 patients had ecchymosis and faded in 2 weeks;33 patients had hypaesthesia and recovered in 12 weeks.With the 12-24 months follow-up,all the patients healed well with satisfactory aesthetic results.Conclusions The genioplasty is a reliable and efficient method for the deformities of the chin,and it can significantly improve the appearance of the chin.

OBJECTIVETo provide preimplantation genetic diagnosis(PGD) for two couples carrying thalassemia mutations and chromosomal abnormalities.

METHODSCouple 1 were both carriers of β 41/42 thalassemia mutations, while the husband has carried a reciprocal translocation with a karyotype of 46,XY,inv(9)(p11;q13),t(11;22)(q25;q13). Couple 2 were both carriers of α (-SEA) thalassemia mutation. Their chromosome karyotypes were both normal, but had two spontaneous abortions. The couples had received 1 and 3 blastocysts respectively through in vitro fertilization(IVF) cycles. Following the biopsy, the cells underwent whole genome amplification, and the amplified DNA from each embryo was subjected to genetic testing and a 23-chromosome single nucleotide polymorphism(SNP) microarray assay.

RESULTSThe embryo of couple 1 was diagnosed as carrier of β 41/42 thalassemia with euploid chromosomes. The embryo was transferred and resulted in intrauterine pregnancy. Similarly, an embryo of couple 2 was verified as carrier of α (-SEA) thalassemia with euploid chromosomes.

CONCLUSIONPGD for aneuploidy coupled with testing for single gene disorders via trophectoderm biopsy and whole genome amplification is feasible. The approach can attain diagnosis with minimal damage with sound clinical outcome.

Adult ; Aneuploidy ; Blastocyst ; cytology ; Chromosome Aberrations ; Embryo Transfer ; Female ; Fertilization in Vitro ; Genetic Testing ; Heterozygote ; Humans ; Male ; Mutation ; Pregnancy ; Preimplantation Diagnosis ; beta-Thalassemia ; diagnosis ; embryology ; genetics