Objective:To analyze the main effect of improving the image quality of digital radiography (DR) high kilovoltage chest radiography in Tianjin, and to provide reference for the implementation of quality control work.Methods:In November 2023, the image quality evaluation results of DR high kilovoltage chest radiographs submitted for approval by Tianjin Occupational Health Inspection Institutions from 2022 to 2023 were analyzed. According to the results of the image quality review in 2022, the outstanding problems, causes and improvement plans were summarized, and the contents of the image quality improvement projects in 2023 were determined. χ 2 test was used to compare the evaluation results of DR high kilovoltage chest radiograph image quality and the differences among various specific evaluation indicators before and after the improvement, and to compare the differences of image quality evaluation results among groups participating in different quality control improvement projects after the improvement. Results:Compared with 2022, after the implementation of the quality control improvement projects in 2023, the rate of level 1 film (excellent film) and level 2 film (good film) of DR high kilovoltage chest radiographs increased by 3.7% and 20.0%, respectively, and the rate of level 4 film (waste film) decreased by 30.0%. After the implementation of the improvement projects, the non-conformity rate and the serious non-conformity rate of 7 indicators were significantly reduced ( P<0.05). The medical institutions participating in the two quality control improvement projects of related training and on-site guidance increased the rate of level 2 film (good film) and decreased the rate of level 4 film (waste film) compared with the medical institutions participating in the one improvement project of related training (χ 2=14.78, P<0.05) . Conclusion:The quality control improvement projects can improve the image quality of Tianjin DR high kilovoltage chest radiography, and the combination of relevant training and on-site guidance may have better improvement effect.

Objective:To analyze the main effect of improving the image quality of digital radiography (DR) high kilovoltage chest radiography in Tianjin, and to provide reference for the implementation of quality control work.Methods:In November 2023, the image quality evaluation results of DR high kilovoltage chest radiographs submitted for approval by Tianjin Occupational Health Inspection Institutions from 2022 to 2023 were analyzed. According to the results of the image quality review in 2022, the outstanding problems, causes and improvement plans were summarized, and the contents of the image quality improvement projects in 2023 were determined. χ 2 test was used to compare the evaluation results of DR high kilovoltage chest radiograph image quality and the differences among various specific evaluation indicators before and after the improvement, and to compare the differences of image quality evaluation results among groups participating in different quality control improvement projects after the improvement. Results:Compared with 2022, after the implementation of the quality control improvement projects in 2023, the rate of level 1 film (excellent film) and level 2 film (good film) of DR high kilovoltage chest radiographs increased by 3.7% and 20.0%, respectively, and the rate of level 4 film (waste film) decreased by 30.0%. After the implementation of the improvement projects, the non-conformity rate and the serious non-conformity rate of 7 indicators were significantly reduced ( P<0.05). The medical institutions participating in the two quality control improvement projects of related training and on-site guidance increased the rate of level 2 film (good film) and decreased the rate of level 4 film (waste film) compared with the medical institutions participating in the one improvement project of related training (χ 2=14.78, P<0.05) . Conclusion:The quality control improvement projects can improve the image quality of Tianjin DR high kilovoltage chest radiography, and the combination of relevant training and on-site guidance may have better improvement effect.

Objectives:To investigate the clinical and genetic features of young Chinese patients with myeloproliferative neoplasms (MPN) .Methods:In this cross-sectional study, anonymous questionnaires were distributed to patients with MPN patients nationwide. The respondents were divided into 3 groups based on their age at diagnosis: young (≤40 years) , middle-aged (41-60 years) , and elderly (>60 years) . We compared the clinical and genetic characteristics of three groups of MPN patients.Results:1727 assessable questionnaires were collected. There were 453 (26.2%) young respondents with MPNs, including 274 with essential thrombocythemia (ET) , 80 with polycythemia vera (PV) , and 99 with myelofibrosis. Among the young group, 178 (39.3%) were male, and the median age was 31 (18-40) years. In comparison to middle-aged and elderly respondents, young respondents with MPN were more likely to present with a higher proportion of unmarried status (all P<0.001) , a higher education level (all P<0.001) , less comorbidity (ies) , fewer medications (all P<0.001) , and low-risk stratification (all P<0.001) . Younger respondents experienced headache (ET, P<0.001; PV, P=0.007; MF, P=0.001) at diagnosis, had splenomegaly at diagnosis (PV, P<0.001) , and survey (ET, P=0.052; PV, P=0.063) . Younger respondents had fewer thrombotic events at diagnosis (ET, P<0.001; PV, P=0.011) and during the survey (ET, P<0.001; PV, P=0.003) . JAK2 mutations were found in fewer young people (ET, P<0.001; PV, P<0.001; MF, P=0.013) ; however, CALR mutations were found in more young people (ET, P<0.001; MF, P=0.015) . Furthermore, mutations in non-driver genes (ET, P=0.042; PV, P=0.043; MF, P=0.004) and high-molecular risk mutations (ET, P=0.024; PV, P=0.023; MF, P=0.001) were found in fewer young respondents. Conclusion:Compared with middle-aged and elderly patients, young patients with MPN had unique clinical and genetic characteristics.

Objective:To compare the effects of thoracoscopic anatomical segmentectomy and thoracoscopic lobectomy on patients' respiratory function.Methods:Retrospective analysis of 326 patients who underwent thoracoscopic surgery from July 2016 to July 2019(209 patients underwent anatomical segmentectomy, 117 patients underwent lobectomy). According to variables including gender, age, tumor location, smoking history and BMI, two propensity score-matched cohorts including 89 patients respectively were constructed. The patients’ baseline data and respiratory function date of the patients pre-operation and post-operation were analyzed. The measurement data that obey the normal distribution were described by mean±standard deviation, and the t-test was used for comparison between groups; the measurement data of non-normal distribution was described by the median value( P25, P75), and the Wilcoxon rank sum test was used for the comparison between groups; The data was described by frequency, and the chi-square test or Fisher's exact probability method was used for comparison between groups. Results:At the first-month follow-up after surgery, there was no significant difference in the variation of FVC[(0.48±0.40)L vs.(0.34±0.37)L, P=0.215)and FEV1[(0.52±0.46)L vs.(0.43±0.77)L, P=0.364), and in the change rate of FVC(%)[15.23(8.74, 21.25) vs. 14.58(7.75, 19.40), P=0.122], FEV1(%)[17.25(9.56, 22.78) vs. 16.42(9.15, 20.28), P=0.154]and DLCO(%)[18.54(10.88, 25.68)vs. 17.45(9.58, 23.75) P=0.245]. Between the segmentectomy group and lobectomy group, there was a significant difference in the alteration of FVC[(0.50±0.47)L vs. (0.29±0.31)L, P=0.031] and FEV1[(0.44±0.34)L vs.(0.24±0.23)L, P<0.001], the change rate of FVC(%)[14.27(7.87, 22.32) vs. 9.95(5.56, 17.24), P=0.008]、FEV1(%)[15.23(8.36, 22.17)vs. 10.05(5.15, 18.54), P<0.001]and DLCO(%)[13.74(6.24, 19.78) vs. 4.45(-2.32, 13.75), P=0.023]in the 6th month after surgery. The lobectomy group had a higher variation of FEV1[(0.34±0.49)L vs.(0.18±0.26)L, P=0.006] and change rate of FVC(%)[9.28(2.15, 18.94) vs. 5.24(0.52, 11.45), P=0.0032] and FEV1(%)[10.45(3.15, 21.32) vs. 6.50(1.55, 14.24), P<0.001] in the first year after surgery. However, the variation of FVC[(0.29±0.36)L vs.(0.21±0.24)L, P=0.176) and the change rate of DLCO(%)[8.35(2.15, 16.45) vs. 6.23(2.12, 14.54), P=0.143] didn't show a significant difference between the two groups. Conclusion:Whether in the short or the middle postoperative period, segmentectomy can preserve postoperative respiratory function than lobectomy.

OBJECTIVE: To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment. METHODS: 111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnitine by tandem mass spectrometry. Those showing a significant increase in serum isovaleryl carnitine (C5) were analyzed for urinary organic acid and variants of the IVD gene. RESULTS: Four cases of isovalerate acidemia were detected, which included 2 asymptomatic newborns (0.018‰, 2/111 986) and 2 children suspected for metabolic genetic diseases (0.268‰, 2/7461). The formers had no obvious clinical symptoms. Analysis of acyl carnitine has suggested a significant increase in C5, and urinary organic acid analysis has shown an increase in isovaleryl glycine and 3-hydroxyisovalerate. Laboratory tests of the two hospitalized children revealed high blood ammonia, hyperglycemia, decreased red blood cells, white blood cells, platelets and metabolic acidosis. The main clinical manifestations have included sweaty foot-like odor, feeding difficulty, confusion, drowsiness, and coma. Eight variants (5 types) were detected, which included c.158G>A (p.Arg53His), c.214G>A (p.Asp72Asn), c.548C>T (p.Ala183Val), c.757A>G (p.Thr253Ala) and 1208A>G (p.Tyr403Cys). Among these, c.548C>T and c.757A>G were unreported previously. None of the variants was detected by next generation sequencing of 2095 healthy newborns, and all variants were predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The incidence of isovalerate acidemia in Liuzhou area is quite high. Screening of metabolic genetic diseases is therefore recommended for newborns with abnormal metabolism. The discovery of novel variants has enriched the mutational spectrum of the IVD gene.
Infant, Newborn ; Child ; Humans ; Acidosis ; Carnitine ; Erythrocytes ; High-Throughput Nucleotide Sequencing

Objective    To assess the correlation of WHO pathological classification and Masaoka stage of thymomas with its prognosis. Methods    A total of 468 patients with thymomas who received surgeries during 2009-2019 in Huashan Hospital, Fudan University, were collected. There were 234 males and 234 females with an average age of 21-83 (49.6±18.7) years. A total of 132 patients underwent video-assisted thoracic surgery (VATS) and 336 patients underwent thymectomy with median sternal incision. The follow-up time was 5.7±2.8 years. The clinical data of the patients were analyzed. Results    The amount of intraoperative bleeding was 178.3±133.5 mL in the median sternal incision group, and 164.8±184.1 mL in the VATS group (P=0.537). The operative time was 3.3±0.7 h in the median sternal incision group and 3.4±1.2 h in the VATS group (P=0.376). Postoperative active bleeding, phrenic nerve injury and chylothorax complications occurred in 8 patients, 9 patients and 1 patient in the VATS group, respectively, and 37 patients, 31 patients and 7 patients in the median sternal incision group, respectively. There was no statistical difference between the two groups (P=0.102, 0.402, 0.320). The 5-year cumulative progression free survival (PFS) rates of patients with WHO type A, AB, B1, B2, B3 and C thymomas were 100.0%, 100.0%, 95.7%, 81.4%, 67.5% and 50.0%, respectively (P<0.001). The 5-year PFS rates of patients with Masaoka stageⅠ-Ⅳ thymomas were 96.1%, 89.2%, 68.6% and 19.3%,  respectively (P<0.001). The 5-year PFS rate was 87.3% in patients with myasthenia gravis (MG) and 78.2% in patients without MG (P<0.001). The 5-year PFS rates of patients with different surgeries were 82.4% and 83.8%, respectively (P=0.904). Conclusion    WHO pathological classification and Masaoka stage have significant clinical prognosis suggestive effect. Thymoma patients combined with MG have better prognosis, which suggests early diagnosis and treatment of thymoma are important.

Objectives:To explore health-related quality of life (HRQoL) and identify its associated variables in Chinese patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) .Methods:In this cross-sectional study, anonymous questionnaires were distributed to adult patients with MPNs to assess symptom burden measured by MPN-10 and HRQoL measured by Medical Outcomes Study 36-Item Short-Form Health Survey (SF-36) and the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) .Results:The data from 1405 respondents with MPNs, including 645 (45.9%) with essential thrombocythemia (ET) , 297 (21.1%) with polycythemia vera (PV) , and 463 (33.0%) with myelofibrosis (MF) , were analyzed. 646 (46.0%) respondents were male. The median age was 56 (range, 18-99) years. The mean MPN-10 scores were 13.0±12.7, 15.0±14.7, and 21.0±16.6 ( P<0.001) , and the physical component summary (PCS) and mental component summary (MCS) scores were 48.0±8.5, 47.0±9.0, and 42.0±10.0 ( P<0.001) and 51.0±11.0, 50.0±10.8, and 49.0±11.1 ( P=0.002) for respondents with ET, PV, and MF, respectively. Respondents with MF reported the lowest score of physical functioning, role functioning, emotional functioning, cognitive functioning, social function, and global health status (all P<0.01) and the highest score of fatigue, pain, dyspnea, appetite loss, diarrhea, and financial problems (all P<0.05) in EORTC QLQ-C30. Multivariate analyses revealed that higher MPN-10 scores were significantly associated with lower PCS (-0.220 to -0.277, P<0.001) and MCS (-0.244 to -0.329, P<0.001) scores; increasing age (-1.923 to -4.869; all P<0.05) , lower PCS score. Additionally, comorbidity (ies) , symptom at diagnosis, splenomegaly, anemia, unknown driver gene, and higher annual out-of-pocket cost were significantly associated with lower PCS and/or MCS scores. However, age ≥ 60 years, urban household registration, concomitant medication, and receiving ruxolitinib therapy in respondents with MF were associated with higher MCS scores. Weak correlations were found between MPN-10 score (except the subscale of appetite loss and constipation) and EORTC QLQ-C30 score in majority of subscales in respondents with ET (| r| = 0.193-0.457, all P<0.001) , PV (| r| = 0.192-0.529, all P<0.01) , and MF (| r| = 0.180-0.488, all P<0.001) , respectively. Conclusions:HRQoL in patients with MPN was significantly reduced, especially in patients with MF. Sociodemographic and clinical variables were significantly associated with the HRQoL in patients with MPNs.

Objectives:To explore BCR-ABL kinase domain mutation profiles and clinical variables associated with them in tyrosine kinase inhibitor (TKI) -resistant patients with chronic myeloid leukemia (CML) .Methods:Imatinib-, nilotinib-, and/or dasatinib-resistant patients with CML who screened BCR-ABL mutation (s) in Peking University People’s Hospital between June 2001 and September 2019 were retrospectively reviewed. BCR-ABL mutation was analyzed by Sanger sequencing. Binary logistic regression model was built to identify independent clinical variables associated with developing BCR-ABL mutation (s) .Results:Data of 1 093 TKI-resistant cases in 804 patients who experienced resistance to imatinib ( n=576, 52.7%) , nilotinib ( n=238, 21.8%) , and dasatinib ( n=279, 25.5%) were analyzed. In total, 291 (50.5%) imatinib-, 152 (63.9%) nilotinib-, and 160 (57.3%) dasatinib-resistant cases developed BCR-ABL mutation (s) . T315I mutation was the most frequent mutation detected in imatinib-, nilotinib-, and dasatinib-resistant cases, accounting for 12.3%, 27.3%, and 34.1%, respectively. Y253F/H (7.5%) and F359V/C/I (5.6%) were the mutation detected in ≥5% imatinib-resistant cases; F359V/C/I (12.2%) , Y253F/H (11.8%) , and E255K/V (10.5%) in nilotinib-resistant cases; and F317L/V/I/C (11.5%) and E255K/V (5.4%) in dasatinib-resistant cases. In multivariate analyses, no TKI dose reduction or discontinuation of TKI therapy was the common variable associated with developing BCR-ABL mutation (s) . Other variables associated with developing BCR-ABL mutation (s) in imatinib-, nilotinib-, or dasatinib-resistant cases included male gender, younger age, no comorbidity, advanced phase before starting current TKI therapy, longer interval from diagnosis to starting current TKI therapy, acquired resistance, and TKI resistance due to progression to advanced phase or hematologic failure. In addition, interval from TKI failure to BCR-ABL mutation detection, starting initial TKI therapy to TKI failure, and starting current TKI therapy to TKI failure were associated with the frequency of developing BCR-ABL mutation. Dasatinib and nilotinib use and acquired resistance were identified to be associated with the development of T315I mutation in multivariate analyses. Conclusions:More than half of TKI-resistant CML patients developed BCR-ABL mutation (s) by Sanger sequencing. T315I mutation was the most frequently detected. Clinical variables significantly associated with developing BCR-ABL mutation (s) should be used not only as basis for the choice of subsequent TKIs but also the understanding of TKI-resistant mechanisms.

Objective: To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria type Ⅰ. Methods: GCDH gene variants was detected by Sanger sequencing among the three children and their family members. Results: Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c. 532G>A (p.Gly178Arg) and c. 655G>A (p.Ala219Thr) of the GCDH gene, while his father and mother respectively carried heterozygous c. 532G>A(p.Gly178Arg) and c. 655G>A (p.Ala219Thr) variants. Patient 2 carried c. 532G>A (p.Gly178Arg) and a novel c. 1060G>T (p.Gly354Cys) compound heterozygous variant, while his father and mother respectively carried heterozygous c. 532G>A (p.Gly178Arg) and c. 1060G>T (p.Gly354Cys) variant. Patient 3 carried homozygous c. 532G>A (p.Gly178Arg) variant of the GCDH gene, for which both of his parents were heterozygous carriers. Conclusion The GCDH gene variant probably underlie the glutaric aciduria type Ⅰ among the 3 patients. Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics