Objective To survey the prevalence of elderly asthmatics among urban and rural residents of Liaoning Province and to provide data for preventive and therapeutic policies of asthma. Methods Stratified cluster disproportional 2.5‰ random sampling survey for 116 276 re sidents was performed using uniform scheme, procedures and questionnaire. Among them 12 735 cases were over 60 years old. Results Totally 522 cases (207 male and 315 female) were diagnosed as asthma, the overa ll prevalence was 1 25% and that of elderly was 4 09% ( male 3 26%, female 4 92%, P

Objective: To study the clinicopathologic features, immunophenotype, characteristic FISH pattern and prognosis of renal cell carcinoma (RCC) associated with chromosome X inversion harboring gene fusions involving TFE3. Methods: Ten cases of NONO-TFE3 RCC and four cases of RBM10-TFE3 RCC were investigated at Nanjing Jinling Hospital from 2009 to 2016 by clinicopathological findings, immunohistochemistry, and genetic analysis. Results: Morphologically, the distinct pattern of secretory endometrioid subnuclear vacuolization was overlapped with clear cell papillary RCC, and often accompanied by sheets of epithelial cells in NONO-TFE3 RCC. Most cases of RBM10-TFE3 RCC presented with the biphasic feature that acinar, tubular and papillary patterns of epithelioid cells combined with sheets of small cells with "pseudorosette-like" architectures. In addition, cytoplasmic vacuolization, nuclear groove, and psammoma bodies were also observed. Immunohistochemically, all NONO-TFE3 RCC cases were immunoreactive for TFE3, CD10, RCC markers, and PAX8, and negative for CK7, Cathepsin K, Melan A, HMB45, Ksp-cadherin, vimentin, and CD117. All 4 cases of RBM10-TFE3 RCC showed moderate to strong immunoreactivity for TFE3, Cathepsin K, CD10, Ksp-cadherin, E-cadherin, P504s, RCC marker, PAX8, and vimentin but negative for TFEB, HMB45 and CK7. CKpan and Melan A were at least focally expressed. The antibody to Ki-67 showed labeling of 3%-8% (mean 5%). There were some expression discrepancies of immunochemistry between different histological patterns. PAX8, CKpan, P504s, and Ksp-cadherin were expressed in epithelioid areas but not in small-cell areas. Ki-67 labeling index of epithelioid areas was higher than that in small-cell areas. In molecular analysis, NONO-TFE3 fusion transcripts were identified in 6 patients. The fusion points were between exon 7 of NONO and exon 6 of TFE3 in 5 patients and between exon 9 of NONO and exon 5 of TFE3 in one patient. All 4 cases of RBM10-TFE3 RCC demonstrated to have RBM10-TFE3 fusion transcripts and the fusion points were between exon 5 of TFE3 and exon 17 of RBM10. Using TFE3 break-apart FISH assay, all 10 cases of NONO-TFE3 RCC showed characteristic patterns of equivocal split signals with a distance of nearly 2 signal diameters. All 4 cases of RBM10-TFE3 RCC showed colocalized or subtle split signals with a distance of <1 signal diameter, which was considered as negative results. Long-term follow-up was available for 7 patients of NONO-TFE3 RCC and 4 patients of RBM10-TFE3 RCC. All patients were alive with no evidence of disease. Conclusions Two rare genotypes, NONO-TFE3 RCC and RBM10-TFE3 RCC, are reported in this study. Both of these two tumors show specific morphology and good prognosis, along with the positive TFE3 staining and the equivocal or false-negative TFE3 FISH results, which could be missed. PCR detection or next-generation sequencing can determine the genotype.

Objective To learn the clinical manifestations and pathogenic situation of hand foot and mouth disease (HFMD) in Changchun children's hospital from 2009 to 2010.Methods We collected the faeces specimen and oropharyngeal swabs of 1 862 children patients who consulted in Changchun children's hospital from May 2009 to Nov 2010.The enterovirus 71 ( EV71 ) and Coxsackie virus A16 (CoxA16) of 1 514 faeces specimens were amplified with RT-PCR,and 530 oropharyngeal swabs' virus were isolated with rhabdomyosarcoma cell.Results The total HFMD patients were 1 175 in 2010,687 in 2009.The rate of serious patients was 6.26％ (43/687) in 2009,and 16.51％ ( 194/1 175 ) in 2010.The season of peak incidence in 2009 was June,and in 2010 were June,July and August.The gender distribution was 1 241 males and 621females.The average age of HFMD patients was ( 28.32 ± 15.22 ) months.And the distribution in city and countryside was 1:1.05.Total of 1 862 cases ( 100％ ) had rash,55.69％ ( 1 037/1 862) had fever,6.07％(113/1 862) had neurologic symptom and 1.41％ (26/1 862) had vomiting when the patients admitted in our hospital.And there were 547 cases ( 29.41％ ) emerging myocardium injury,548 cases (29.43％ ) emerging neurologic complications and 82 cases (4.39％ ) emerging respiratory complications during treatment.There were 166 positive with positive rate 31.32％ in virus isolation.The positive rate of EV71 and CoxA16 were 9.62％ and 10.57 in 2009,and 32.52％ and 39.53％ in 2010.Conclusion There were more HFMD patients in 2010 than 2009,and the proportion of serious patients was increased too.In summer and autumn,we should pay more attention to HFMD for fever children.HFMD could damage digestive system,respiratory system,circulatory system and nervous system.The nervous system of serious patients is more likely to be damaged.The pathogens of HFMD are diversity,but mainly are EV71 and CoxA16,and the pathogen of serious patients is mostly EV71.

OBJECTIVE: To assess the value of detecting the rearrangement of mixed lineage leukemia (MLL) gene in children with acute mononuclear leukemia (AML). METHODS: Dual-color fluorescence in situ hybridization (FISH) probe was used to detect MLL gene rearrangement in 68 children with AML by interphase FISH. The results were compared with that of conventional G banding chromosomal analysis. RESULTS: Among the 68 children, 28 were detected by FISH with positive hybridization signals, with a detection rate for MLL gene rearrangement being 41.2%. Twelve (17.6%) reciprocal translocations and interruption of 11q23 were detected by G banding analysis. The difference in the detection rates between the two methods was statistically significant (P< 0.05). CONCLUSION The sensitivity of FISH assay for MLL gene rearrangement was significantly higher than that of G banding chromosomal karyotyping. Combined use of both methods for children with AML can improve the detection rate of MLL gene rearrangements and provide crucial clues for clinical diagnosis, treatment and prognosis.
Child ; Chromosomes, Human, Pair 11 ; Gene Rearrangement ; Histone-Lysine N-Methyltransferase ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Monocytic, Acute ; genetics ; Myeloid-Lymphoid Leukemia Protein ; genetics ; Translocation, Genetic

Objective:To discuss the perioperative management strategy of the HeartCon left ventricular assist device in the treatment of adult patients with end-stage heart failure and evaluate the effectiveness of blood pump.Methods:Ten consecutive patients with end-stage heart failure treated with the LVAD HeartCon at the Department of Cardiovascular Surgery, Jiangsu Province Hospital from July 2021 to July 2023 were enrolled in this study. The clinical data and follow-up results were retrospectively analyzed. Blood pump parameter, cardiac function classification, liver and kidney function, coagulation, myocardial markers, N-terminal pro-B-type natriuretic peptide, von Willebrand factor antigen, echocardiography, cardiothoracic ratio, and 6-minute walking distance test (6MWT) were evaluated before and after implantation of LVAD in 30, 60, 90, 180, 360, 540, and 720 days. EQ-5D-5L questionnaire was used to evaluate the quality of life.Results:There were 9 males and 1 female with a mean age of (53.7±9.7) years. All patients survived. Renal insufficiency occurred in 1 patient and recurrent aseptic granuloma occurred in 1 patient. There were no significant differences in aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), serum creatinine (Scr), blood urea nitrogen (BUN), right ventricular fractional area change (FAC) and tricuspid annular plane systolic excursion (TAPSE) between pre-operation and 30, 60 and 90 days post-operation( P>0.05). The levels of N-terminal pro-B-type natriuretic peptide (NT-proBNP), von Willbrand factor (vWF) antigen, left ventricular end-diastolic diameter (LVDd) and cardiothoracic ratio decreased significantly on the 30th, 60th and 90th day after operation ( P<0.05). The left ventricular ejection fraction (LVEF), 6MWT and EQ-5D-5L scores were significantly increased at 30, 60 and 90 days after operation compared with those before operation ( P<0.05). Conclusion:With the left ventricular assist device HeartCon, the cardiac function and quality of life of patients were significantly improved within 3 months after operation, and no serious complications were observed, proving that the device is safe and effective.

Objective:To investigate the correlation between clinical phenotypes and genetic characteristics of children with ring chromosomes (RCs).Methods:Case series study.The clinical data of 11 434 children who received treatment and peripheral blood chromosome karyotype detection in Henan Children′s Hospital from October 2008 to October 2023 due to growth retardation, intellectual impairment or congenital malformation were analyzed retrospectively.A total of 25 children with RCs were selected.Their age at diagnosis, karyotype distribution, clinical manifestations, and genetic detection results were analyzed.Results:RCs were detected in 25 out of 11 434 children, with a detection rate of 0.21%.The genome-wide copy number variation (CNV) analysis was performed on 7 RCs cases, and it found that pathogenic variation existed in all of them.Among the 25 RC cases (11 males and 14 females of social gender), the age at diagnosis ranged from 2 months to 14 years; there were 20 autosomal rings and 5 sex chromosome rings; 13 cases had chimeric karyotypes, and 12 cases had non-chimeric karyotypes.Most of the 25 children showed clinical manifestations of mental or developmental retardation, and some also presented with specific clinical manifestations, such as short stature, congenital malformation, and epilepsy.Conclusions:The pathogenesis of RCs is complex.The clinical manifestations are determined by both RCs syndrome and specific phenotypes caused by the dose effect and exhibit high heterogeneity, so it is easy to miss or misdiagnose.The combined application of cellular and molecular genetic detection technology can facilitate early diagnosis and treatment of RCs, and the correlation analysis of phenotypes and genetic characteristics can provide guidance for genetic counseling.

Objective:To evaluate postoperative calcitonin level as a prognostic marker in long-term follow-up of medullary thyroid carcinoma(MTC).Methods:Clinical data of 146 MTC cases treated at Tianjin Medical University Cancer Institute and Hospital from Jan 2011 to Dec 2019 were reviewed retrospectively. The relationship between postoperative calcitonin and disease-free survival was analyzed. According to the level of calcitonin six months after operation, patients were divided into normal level group and elevated group.Results:The median tumor size in those 146 cases was (1.78±1.22)cm, and 81 cases had lymph node metastasis. After 6 months of follow-up, 89 cases had normal calcitonin, with median tumor size of (1.63±1.20)cm, and 35 cases had lymph node metastasis . After a median follow-up of 56 months, 78 patients had normal calcitonin, 11 patients had biochemical relapse, 3 patients had structural relapse, and no patients died. 57 cases had a higher calcitonin ,median tumor size (1.97±1.22)cm, 46 cases had lymph node metastasis, 5 cases had distant metastasis, 18 cases had structural recurrence, and 7 patients died. Univariate analysis showed that lymph node metastasis, TNM stage, preoperative calcitonin, lymph node dissection and postoperative calcitonin were correlated with long-term disease-free survival (all P < 0.05). Multivariate analysis showed that postoperative calcitonin and TNM stage were an independent prognosis factor for disease-free survival in MTC patients (all P < 0.05). Conclusion:Postoperative calcitonin is a independent prognostic marker for long-term disease-free survival in MTC patients.