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Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study

JCO Precis Oncol. 2021 Dec 22;5:PO.21.00115. doi: 10.1200/PO.21.00115. eCollection 2021.

ABSTRACT

PURPOSE: Previous studies have shown an approximately two-fold elevation in the relative risk of urinary bladder cancer (UBC) among people with a family history that could not be entirely explained by shared environmental exposures, thus suggesting a genetic component in its predisposition. Multiple genome-wide association studies and recent gene panel sequencing studies identified several genetic loci that are associated with UBC risk; however, the list of UBC-associated variants and genes is incomplete.

MATERIALS AND METHODS: We exome sequenced eight patients from three multiplex UBC pedigrees and a group of 77 unrelated familial UBC cases matched to 241 cancer-free controls. In addition, we examined pathogenic germline variation in 444 candidate genes in 392 The Cancer Genome Atlas UBC cases.

RESULTS: In the pedigrees, segregating variants were family-specific although the identified genes clustered in common pathways, most notably DNA repair (MLH1 and MSH2) and cellular metabolism (IDH1 and ME1). In the familial UBC group, the proportion of pathogenic and likely pathogenic variants was significantly higher in cases compared with controls (P = .003). Pathogenic and likely pathogenic variant load was also significantly increased in genes involved in cilia biogenesis (P = .001). In addition, a pathogenic variant in CHEK2 (NM_007194.4:c.1100del; p.T367Mfs*15) was over-represented in cases (variant frequency = 2.6%; 95% CI, 0.71 to 6.52) compared with controls (variant frequency = 0.21%; 95% CI, 0.01 to 1.15), but was not statistically significant.

CONCLUSION: These results point to a complex polygenic predisposition to UBC. Despite heterogeneity, the genes cluster in several biologically relevant pathways and processes, for example, DNA repair, cilia biogenesis, and cellular metabolism. Larger studies are required to determine the importance of CHEK2 in UBC etiology.

PMID:34964002 | PMC:PMC8710334 | DOI:10.1200/PO.21.00115

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Magnetic resonance imaging investigation of age-related morphological changes in the pancreases of 226 Chinese

Aging Med (Milton). 2021 Dec 11;4(4):297-303. doi: 10.1002/agm2.12185. eCollection 2021 Dec.

ABSTRACT

OBJECTIVE: To investigate the morphological changes with age in the pancreases of healthy individuals undergoing magnetic resonance imaging (MRI).

METHODS: The participants were selected from adults who were undergoing physical examinations from January 2017 to September 2020 at Huadong Hospital. They were divided according to age, as broken down by decades into seven groups ranging from 20 to 29 years to ≥80 years of age. There were 30 to 35 cases for each decade. They were then divided into a young and middle-aged group (<60 years of age) and an elderly group (≥60 years of age). The morphological characteristics of the pancreases of each participant in the group were measured on magnetic resonance images. The characteristics included the pancreatic anteroposterior diameters and volumes. The relationships between the anteroposterior diameters of the pancreatic head, body, and tail and pancreatic volume and age were analyzed.

RESULTS: A total of 226 magnetic resonance images from 112 (49.56%) men and 114 (50.44%) women, aged 22-93 (54.68 ± 19.52) years. The age ranges of the seven groups consisted of the following: 20-29 years (n = 33), 30-39 years (n = 32), 40-49 years (n = 32), 50-59 years (n = 31), 60-69 years (n = 35), 70-79 years (n = 33) and ≥80 years (n = 30). The age range and numbers of patients in the young and middle-aged group was 22-59 (40.09 ± 10.88) years (n = 128) and in the elderly group was 60-93 (73.74 ± 8.99) years (n = 98). The MRI findings characteristic of aging included pancreatic atrophy (especially of the pancreatic tail), pancreatic lobulation, uneven signal intensity, fatty degeneration, and widening of the main pancreatic duct. The respective anteroposterior diameters of the pancreatic head, body, and tail and the pancreatic volumes peaked at 30 to 39 years as follows: 28.03 ± 4.45 mm, 24.10 ± 4.27 mm, 24.57 ± 4.94 mm, 98.54 ± 26.56 cm3; and then gradually decreased to 19.05 ± 3.59 mm, 16.00 ± 3.81 mm, 13.83 ± 3.39 mm, 45.02 ± 9.15 cm3 at ≥80 years, for respective decreases of 32.03%, 33.60%, 43.71%, and 54.31%. The respective anteroposterior diameters of the pancreatic head, body, tail, and pancreatic volume in the elderly patients were 21.45 ± 4.15 mm, 18.14 ± 4.09 mm, 16.81 ± 4.37 mm, and 59.02 ± 21.44 cm3, which were significantly smaller than the respective corresponding measurements in the young and middle-aged patients (26.09 ± 4.40 mm, 22.30 ± 4.42 mm, 22.08 ± 4.53 mm, and 88.32 ± 23.92 cm3). The differences were statistically significant (t = 8.06, 7.24, 8.79, 9.54, respectively, p < 0.001). The anteroposterior diameters of the pancreatic head, body, tail, and pancreatic volume were negatively correlated with age (r = -0.53, -0.47, -0.56, -0.57, respectively, p < 0.001).

CONCLUSION: The anteroposterior diameters of the pancreatic head, body, tail, and the pancreatic volume all peaked at the age range of 30-39 years and then gradually decreased with increasing age. After the age of 60 years, pancreatic atrophy became increasingly obvious, with changes in shape and widening with age of the main pancreatic duct.

PMID:34964011 | PMC:PMC8711217 | DOI:10.1002/agm2.12185

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Sustained Improvement in the Performance of Rapid Sequence Intubation Five Years after a Quality Improvement Initiative

Pediatr Qual Saf. 2021 Feb 19;6(2):e385. doi: 10.1097/pq9.0000000000000385. eCollection 2021 Mar-Apr.

ABSTRACT

Many quality improvement interventions do not lead to sustained improvement, and the sustainability of healthcare interventions remains understudied. We conducted a time-series analysis to determine whether improvements in the safety of rapid sequence intubation (RSI) in our academic pediatric emergency department were sustained 5 years after a quality improvement initiative.

METHODS: There were 3 study periods: baseline (April 2009-March 2010), improvement (July 2012-December 2013), and operational (January 2014-December 2018). All patients undergoing RSI were eligible. We collected data using a structured video review. We compared key processes and outcomes with statistical process control charts.

RESULTS: We collected data for 615 of 643 (96%) patient encounters with RSI performed: 114 baseline (12 months), 105 improvement (18 months), and 396 operational (60 months). Key characteristics were similar, including patient age. Statistical process control charts indicated sustained improvement of all 6 key processes and the primary outcome measure (oxyhemoglobin desaturation) throughout the 5-year operational period.

CONCLUSIONS: Improvements in RSI safety were sustained 5 years after a successful improvement initiative, with further improvement seen in several key processes. Further research is needed to elucidate the factors contributing to sustainability.

PMID:34963998 | PMC:PMC8702256 | DOI:10.1097/pq9.0000000000000385

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Outcome Prediction of Patients with Intracerebral Hemorrhage by Measurement of Lesion Volume in the Corticospinal Tract on Computed Tomography

Prog Rehabil Med. 2021 Dec 10;6:20210050. doi: 10.2490/prm.20210050. eCollection 2021.

ABSTRACT

OBJECTIVE: This study investigated the potential utility of computed tomography for outcome prediction in patients with intracerebral hemorrhage.

METHODS: Patients with putaminal and/or thalamic hemorrhage for whom computed tomography images were acquired in our hospital emergency room soon after onset were retrospectively enrolled. Outcome measurements were obtained at discharge from the convalescent rehabilitation ward of our affiliated hospital. Hemiparesis was evaluated using the total score of the motor component of the Stroke Impairment Assessment Set (SIAS-motor; null to full, 0 to 25), the motor component of the Functional Independence Measure (FIM-motor; null to full, 13 to 91), and the total length of hospital stay. After registration of the computed tomography images to the standard brain, the volumes of the hematoma lesions located in the corticospinal tract were calculated. The correlation between the corticospinal tract lesion volumes and the outcome measurements was assessed using Spearman’s rank correlation test.

RESULTS: Thirty patients were entered into the final analytical database. Corticospinal tract lesion volumes ranged from 0.002 to 4.302 ml (median, 1.478). SIAS-motor scores ranged from 0 to 25 (median, 20), FIM-motor scores ranged from 15 to 91 (median, 80.5), and the total length of hospital stay ranged from 31 to 194 days (median, 106.5). All correlation tests were statistically significant (P <0.01). The strongest correlation was for SIAS-motor total (R=-0.710), followed by FIM-motor (R=-0.604) and LOS (R=0.493).

CONCLUSIONS: These findings suggest that conventional computed tomography images may be useful for outcome prediction in patients with intracerebral hemorrhage.

PMID:34963905 | PMC:PMC8652345 | DOI:10.2490/prm.20210050

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An Evaluation of Firearm Injuries in the Emergency Department

Cureus. 2021 Dec 20;13(12):e20555. doi: 10.7759/cureus.20555. eCollection 2021 Dec.

ABSTRACT

Introduction Firearm injuries are a significant cause of mortality and morbidity. Our study aims to evaluate the injury patterns, results of imaging studies, treatment methods, outcomes, and mortality rates of patients who were admitted to the emergency department with firearm injuries. Methods Our study was designed as a retrospective descriptive study. To this end, adult patients who were admitted to our hospital with gunshot wounds between January 1, 2017, and July 31, 2021, were screened. The files of 527 patients who were admitted with gunshot wounds were analyzed. A total of 30 patients were excluded from the study due to missing data. Statistical analyses were performed using the data of a total of 497 patients. Independent variables of the study included sex, age, systolic blood pressure (SBD), diastolic blood pressure (DBD), pulse, respiratory rate, Glasgow Coma Scale (GCS) score, range of shot, injury site, X-ray, cranial CT, thorax CT, abdominal CT, and extremity CT angiography findings, and the need for treatment and referral. Mortality was the dependent variable of the study. A logistic regression model was created to predict factors affecting the survival of the patients who were admitted to the emergency department with gunshot wounds and to identify the independent variables affecting survival. A p-value of <0.05 was considered sufficient for significance. Results The majority of patients who were admitted to the emergency department due to gunshot wounds were male and the median age of the patients was 32 years (18-70 years). The comparison of the descriptive characteristics with respect to survival revealed that the systolic and diastolic blood pressures and GCS scores of the deceased patients were significantly lower than those of the survivors. The rate of shooting at short range was significantly higher in the deceased patients when compared to that of the survivors. In addition, the rate of the need for surgical intervention and the incidence of pneumocephaly in cranial CT were higher in the deceased patients than in the survivors. Significantly higher rates of deceased patients required referral to neurosurgery and thoracic surgery clinics than survivors. The patients who were referred to the thoracic surgery clinic had an increased death rate by 29-fold and the patients who were referred to the thoracic surgery clinic had an increased death rate by about nine-fold. On the other hand, the probability of death was reduced by about half when the GCS scores of the patients were higher. Discussion We evaluated GCS in our patient group and determined a significantly lower score in the patients who did not survive, which agrees with the findings of other studies. Patients with higher SBD and DBD showed a higher probability of survival, which agrees with the results in other studies. Most patients were shot from their extremities and none had died while the death rate was significantly higher in the patients who suffered injuries to the head or neck. The patients with pneumocephalus had a very low chance of survival. Compared to wound care and dressing, patients who received surgical treatment were more likely to die as these patients had more critical injuries. Conclusion Although most injuries were to the extremities, there were no mortalities in the cohort of patients referred to orthopedics. The patients who suffered injuries to the head/neck had the highest mortality rate.

PMID:34963872 | PMC:PMC8695658 | DOI:10.7759/cureus.20555

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Application of multi-stage competing risk model to survival data

Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Dec 6;55(12):1524-1529. doi: 10.3760/cma.j.cn112150-20211103-01019.

ABSTRACT

The traditional proportional hazard model is commonly used to investigate the association between main outcome and predictor variables. However, the endpoints in medical studies are often not unique. The analyses of labeling other competing outcomes other than the main outcome as censored data will theoretically lead to a biased estimate of the risk of main outcome. Although the traditional competitive risk model can adjust the influence of other outcomes on the risk of the main outcome, it can not directly compare the differences on the risks of different outcomes. The multi-state competing risk model provides a relatively suitable solution for this problem. In this study, based on a previously published follow-up data set for prostate cancer patients, we developed traditional proportional hazard model, traditional competitive risk model, and multi-state competing risk model, respectively. By comparing the advantages and disadvantages of the three models with the same survival data, we clarified the clinical application value of the multi-state competitive risk model in survival data with multiple outcomes.

PMID:34963255 | DOI:10.3760/cma.j.cn112150-20211103-01019

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Analysis of saliva cotinine and 3′-hydroxynicotinine concentration levels among restaurant workers in six cities of China

Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Dec 6;55(12):1482-1485. doi: 10.3760/cma.j.cn112150-20210209-00144.

ABSTRACT

This study was conducted between November to December 2020, consisting of six representative cities, Beijing, Shanghai, Shenzhen (with comprehensive smoke-free legislation), and Changsha, Chongqing, Shenyang (without comprehensive smoke-free legislation), 678 subjects were enrolled eventually, the mean age of the 678 subjects was (35.61±12.91)years old. Subjects from cities with comprehensive smoke-free legislation accounted for 49.71% of the total; male subjects accounted for 19.47%; meanwhile subjects from large, medium, and small restaurants accounted for 13.57% (92), 37.32% (253) and 49.11% (333) respectively. The analysis results indicate that the positive rate of restaurants staff of cotinine and 3′-hydroxynicotinine was lower in cities with comprehensive smoke-free legislation(34.12% vs 68.04%, χ²=78.01, P<0.001; 16.32% vs 41.94%, χ²=53.79, P<0.001), with staff from cities with comprehensive smoke-free legislation have lower concentrations of cotinine and 3′-hydroxynicotinine than their counterparts from cities without comprehensive smoke-free legislation(0.250 ng/ml vs 0.742 ng/ml, P<0.001; 0.250 ng/ml vs 0.250 ng/ml, P<0.001). No statistically significant difference in the concentration of cotinine and 3′-hydroxynicotinine in saliva between staff from restaurants of different sizes was detected (P>0.05).

PMID:34963247 | DOI:10.3760/cma.j.cn112150-20210209-00144

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Correlation study between changes in intestinal microflora structure and immune indexes in newly treated patients with pulmonary tuberculosis

Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Dec 6;55(12):1486-1490. doi: 10.3760/cma.j.cn112150-20210728-00721.

ABSTRACT

To explore the correlation between the changes of the intestinal flora of newly treated pulmonary tuberculosis patients and the immune indicators of the body, and to provide a reference for the prevention and treatment of pulmonary tuberculosis. A single-center and case-control study was adopted. From October 2020 to April 2021, 43 patients with newly diagnosed tuberculosis in the Department of Tuberculosis, Affiliated Changsha Central Hospital,University of South China were selected as the control group. 43 cases of newly treated pulmonary tuberculosis (PTB), 43 healthy control (HC) during the same period, collected fresh feces and whole blood of subjects, and used Illumina Hiseq high-throughput sequencing technology to analyze 16S of all microorganisms in feces The V4 region of rRNA was amplified and sequenced, and the structure of the intestinal flora was analyzed by QIIME software. Use flow cytometry to determine the subject’s immune indicators (CD3+, CD4+, CD8+, CD4+CD25+CD127Treg, CD14+CD16+, CD14+CD16), and analyze the changes in intestinal flora and immune function in newly treated pulmonary tuberculosis patients Inherent connection. The χ² test, t test, and Wilcox rank sum test were used to analyze the differences in age, gender, α diversity, and relative abundance of the two groups of people. Compared with the HC group, the alpha diversity of the intestinal flora in the PTB group decreased (shannon index: t=3.906, P=0.000 2; simpson index: Z=553, P=0.004 7; chao1 index: t=5.395, P=0.000 0). β diversity analysis showed that there were significant differences in the structure of the intestinal flora between the two groups (P=0.000). Species difference analysis showed that at the phylum level, the relative abundance of Firmicutes in the PTB group was significantly lower than that in the HC group (Z=486.0, P=0.000 5). At the genus level, there are 15 different bacterial genera between the two groups. In the PTB group, bifidobacterium, enterococcus, lactobacillus, anaerostipes, the relative abundance of the above 5 genera of veillonella is higher than that of the HC group (P<0.05); Butyricimonas, clostridium, and broutella (blautia), coprococcus, dorea, lachnospira, roseburia, faecalibacterium, ruminococcus, the relative abundance of 10 bacterial genera including dialister was lower than that of the HC group (P<0.05). Comparison of immune indexes between groups showed that CD14+CD16+monocytes (%) in the PTB group were higher than those in the HC group (t=2.456, P=0.001 6<0.05), while CD14+CD16monocytes (%) were lower than HC (t=-4.368, P=0.000<0.05), while the differences in CD3+, CD4+, CD8+, CD4+/CD8+and Treg (CD4+CD25+CD127) were not statistically significant (P>0.05). Spearman correlation analysis showed that Firmicutes in the PTB group was negatively correlated with CD4+/CD8+, CD14+CD16+(r=-0.218, P=0.048; r=-0.245, P=0.025), and positively correlated with CD14+CD16Correlation (r=0.250, P=0.022); At the genus level, Faecalis is positively correlated with CD4+/CD8+and CD4+(r=0.250, P=0.023; r=0.258, P=0.019); Rosella and CD3+, CD8+and CD14+CD16are positively correlated (r=0.27, P=0.024; r=0.219, P=0.046; r=0.027, P=0.039), and negatively correlated with CD14+CD16+(r=-0.280, P= 0.01). Changes in the structure of the intestinal flora of newly treated pulmonary tuberculosis patients may be one of the influencing factors of the immune function of the body. Targeted optimization of the structure of the intestinal flora and improvement of the body’s immunity may be used as an effective auxiliary treatment for pulmonary tuberculosis.

PMID:34963248 | DOI:10.3760/cma.j.cn112150-20210728-00721

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Analysis of syphilis antibody screening results of outpatients and inpatients in a hospital in Beijing from 2016 to 2020

Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Dec 6;55(12):1456-1460. doi: 10.3760/cma.j.cn112150-20210704-00635.

ABSTRACT

Objective: The results of syphilis antibody screening in Peking University Third Hospital from 2016 to 2020 were analyzed,to explore the characteristics of sex, age and distribution of patients with positive syphilis antibody. Methods: A retrospective study was conducted to collect the results of syphilis antibody in outpatients and inpatients of Peking University Third Hospital from 2016 to 2020. Syphilis antibodies were screened in 626 528 patients aged 1-98 years, 4 232 were retested positive by TPPA test, including 2 132 males (50.4%) and 2 100 females (49.6%). Chemiluminescence immunoassay (CMIA) was used for syphilis antibody screening, and Treponema pallidum particle agglutination (TPPA) test was used for reexamination. SPSS20.0 data statistical analysis software was used to analyze the detection rate, age, sex, department and clinical diagnosis of patients with positive syphilis antibody by χ² test. Results: Among 626 528 patients who were positive for treponema pallidum antibody screening, 4 232 were retested positive by TPPA test, accounting for 0.68% of the total number of patients tested. The number of syphilis tests increased year by year, however the positive detection rate decreased. The positive detection rate of syphilis antibody in 2020 decreased by 18.9% compared with 2016. The positive rate of syphilis antibody in male patients was higher than that in female patients, accounting for 0.80% and 0.59% of the total number of patients tested respectively. The positive rate of syphilis antibody of different genders increased with age, the total positive rate of 0-20, 21-40, 41-60, 61-80,>80 years old were 0.15%, 0.45%, 0.95%, 1.07% and 1.41%, respectively. While the increase rate of males was higher than that of females. The positive rate of male over 80 years old was 18.13 times of the group of 0-20 years old, and 5.54 times in women. The top 6 departments with positive syphilis antibody detection rate were emergency department, oncology department, respiratory department, geriatrics department, endocrinology department and neurology department, and the positive rates were 1.79% (104/5 810),1.46% (55/3 767),1.20% (74/6 167),1.20% (22/1 833),1.10% (32/2 909),1.09% (94/8 624), respectively. From the analysis of clinical diagnosis, the proportion of positive syphilis antibody in infertile patients (0.64%, 672/104 911) was higher than that in naturally conceived patients (0.10%, 24/23 969). Conclusions: From 2016 to 2020, the positive detection rate of syphilis antibody in Peking University Third Hospital decreased year by year. However, the positive detection rate increased with the age of patients. The positive rate of syphilis antibody in male was higher than that in female. The positive rate of syphilis antibody in pregnant women was lower than that in infertile patients.

PMID:34963243 | DOI:10.3760/cma.j.cn112150-20210704-00635

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Application of serum markers in medullary thyroid carcinoma

Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Dec 6;55(12):1468-1474. doi: 10.3760/cma.j.cn112150-20210308-00229.

ABSTRACT

Objective: To discuss the diagnostic value of calcitonin(CT), carcinoembryonic antigen (CEA), neuron-specific enolase (NSE), pro-gastrin releasing peptide (Pro-GRP) and chromogranin A (CgA) in the identification of medullary thyroid carcinoma (MTC). Methods: The CT levels in 105 cases of MTC, 50 cases of papillary thyroid carcinoma, 10 cases of thyroid follicular carcinoma, 5 cases of undifferentiated thyroid carcinoma, 50 cases of benign thyroid diseases, 30 cases of non-thyroid malignant tumors and 50 cases of healthy controls were measured from February 2017 to August 2019 at the Department of Clinical Laboratory, Cancer Hospital affliated to Fudan University. Additionally, 79 cases of MTC, 30 cases of non-MTC thyroid malignant tumors and 30 healthy controls were selected for the measurement of CEA, NSE, Pro-GRP and CgA levels. The receiver operating curve was utilized to clarify the area under the curve (AUC), sensitivity, and specificity of each indicator to distinguish between different groups. Results: The medians of CT concentrations in the group of MTC patients was 607.2 (152.5,2 777.5)pg/ml, which was statistically significantly higher than that of the subjects in the group of papillary thyroid carcinoma 1.48 (0.5,2.91)pg/ml, follicular thyroid carcinoma 1.90 (0.82,2.99)pg/ml, undifferentiated thyroid carcinoma 0.50 (0.50,4.93)pg/ml, benign thyroid disease 1.30 (0.50,2.79)pg/ml, non-thyroid malignancies 1.36 (0.50,2.89)pg/ml and healthy controls 2.05 (0.89,3.18)pg/ml. The sensitivity, specificity and AUC of CT to distinguish MTC vs. non-MTC patients was 96.2%, 99.3% and 0.99, respectively. The maximum diameter (>1 cm, P=0.001, OR=15.74) and number (>1, P=0.04, OR=3.4) of nodules were two independent risk factors for elevated CT. CEA (AUC=0.94), NSE (AUC=0.65), Pro-GRP (AUC=0.94) and CgA (AUC=0.83) could all distinguish MTC vs. non-MTC thyroid malignancies. The AUC, sensitivity and specificity by combining CT, CEA, NSE, Pro-GRP and CgA to differentiate MTC vs. non-MTC thyroid malignancies was 1, 100% and 100%, respectively. Conclusions: CT, CEA, NSE, Pro-GRP and CgA may be helpful for the auxiliary diagnosis of MTC. The combination of these indicators in the diagnosis of MTC has high sensitivity and specificity.

PMID:34963245 | DOI:10.3760/cma.j.cn112150-20210308-00229