Detection Rate Of Abnormalities Research Articles

Investigation on influencing factors of blood indexes of interventional radiology workers

Objective: To analyze the influencing factors of blood indicators indexes of interventional radiology workers, and provide a theoretical basis for radiological occupational health monitoring, radiation protection monitoring and risk assessment. Methods: In March 2020, a total of 500 interventional radiology workers (interventional group) and 200 non-interventional radiology workers (control group) who underwent an occupational health examination in Liaoning Center for Disease Control and Prevention from 2018 to 2019 were selected as the subjects. The general information, occupation related information, blood routine, fasting blood glucose and thyroid stimulating hormone test results of the subjects were collected. The differences in the levels and abnormal detection rates of blood indexes between the two groups were compared. And the influencing factors of blood indexes of the intervention riodiology workers were analyzed. Results: The lymphocyte count of interventional group[2.10 (1.70, 2.50) ×10(9)/L] was lower than that of control group[2.20 (1.80, 2.60) ×10(9)/L], the difference was statistically significant (P<0.05) . The white blood cell count and lymphocyte count of interventional workers in the service age≤13 years were higher than those of service age≥28 years group, and fasting blood glucose was lower than those of service age ≥28 years group (P<0.05) . The detection rate of abnormal fasting blood glucose of interventional radiology workers in the service age ≤13 years group was lower than that of the service age 14-27 years and service age ≥28 years (P<0.05) . The lymphocyte count and platelet count of interventional radiology workers in annual effective dose<0.5 mSv group was higher than that of annual effective dose≥1 mSv group (P<0.05) . The results of multi-factor linear regression analysis showed that service age, annual effective dose and female gender were the influencing factors of lymphocyte count of interventional radiology workers (b=-0.008, -0.110, -0.167, P<0.05) . Conclusion: Long-term low-dose radiation exposure had certain influence on the lymphocyte count of interventional radiology workers. Service age, annual effective dose and gender are the influencing factors of lymphocyte count in interventional radiology workers. It should be reinforced to the radiological protection monitoring and risk assessment on interventional radiology workers.

Clinical and Cytogenetical Characteristics in Acute Myeloid Leukemia with Myelodysplasia-Related Changes

To explore the clinical and cytogenetic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) based on morphology define. A total of 180 newly diagnosed acute myeloid leukemia (AML) patients were enrolled and retrospectively analyzed, and marrow cell morphology of 126 patients were re-evaluated. The clinical and cytogenetic characteristics, including ages, sex, WBC count, HGB level, PLT count, blasts percentage, abnormal karyotype detection rate of the patients in AML with multilineage dysplasia (AML-MRC-1), secondary AML from myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) (AML-MRC-2), and AML not otherwise specified (AML-NOS) groups were investigated. There was no significant differences between the patients in three groups in terms of sex, age and platelet count (P=0.898, P=0.365, P=0.853), but AML-MRC-2 group (73.2%) was higher than AML-MRC-1 (60.0%) and AML-NOS (56.4%) in the percentages of patients over 60 years old (P=0.228); there were statistically significant differences on WBC count, HGB level, and blasts percentage (P=0.000, P=0.022, P=0.000, AML-MRC-2<AML-MRC-1<AML-NOS). Abnormal karyotypes rate were 59.2% in AML-MRC patients, among which complex karyotypes and myelodysplasia-related cytogenetic abnormalities accounted for 49.3%, and 5q- was the most common (28.2%), followed by 7q-/-7 (19.1%), 17p-/-17 (14.1%), +8 (14.1%), and 20q- (12.7%). Cytogenetic abnormalities rate were compared between the patients in the three groups, the result showed that AML-MRC-2 group (73.2%) was higher than AML-MRC-1 group (40.0%) and AML-NOS group (25.4%) (P=0.000). Complex karyotypes and myelodysplasia-related abnormalities were the main abnormalities in AML-MRC-2 and AML-MRC-1 group, the percentages of complex karyotypes of the patients in the two groups showed statistically significant (41.5% vs 16.7%, P=0.026), while the percentages of other myelodysplasia-related abnormalities showed no statistically significant (17.1% vs 20.0%, P=0.753). Morphological reassessment of bone marrow cell dysplasia is crucial to the differential diagnoses between AML-MRC (defined only by morphological changes of multilineage dysplasia) and AML-NOS. And the detection rate of cytogenetic abnormalities that mainly consisted of complex karyotypes and myelodysplasia-related abnormalities was higher in AML-MRC patients.

Study on the application of ultrasonography in the diagnosis of fetal cardiac structural abnormalities and the relationship between fetal cardiac structural abnormalities with chromosome abnormalities in early pregnancy.

BackgroundTo explore the significance of multiple ultrasonic soft indexes such as Nuchal translucency (NT) in detection of cardiac structural malformations and chromosome abnormalities in fetal systematic screening in the first trimester, and to understand the value of combined transvaginal ultrasound (TVUS) in congenital heart disease (CHD) screening.MethodsA total of 3,356 pregnant women who underwent early NT screening were screened by systematic ultrasound to monitor and evaluate the sensitivity and specificity of NT, tricuspid valve (TV), ductus venosus (DV) in the diagnosis of fetal CHD. According to the different intervals of NT thickening, the patients were divided into four groups, the detection rates of CHD and abnormal karyotypes in each group were compared, and the consistency of transabdominal and combined transvaginal ultrasonography was compared.ResultsA total of 3,356 cases of early pregnancy were examined by NT. A total of 66 cases of CHD were detected, and the detection rate was 1.97%. Among the 66 CHD cases, 14 cases underwent chromosome karyotype examination and 12 of those cases had abnormal results. With the increase of NT thickness, the detection rates of cardiac structural abnormalities and chromosomal abnormalities all showed a linear increasing trend. The sensitivity of the NT ≥2.5 mm group was as high as 63.64%, and the ductus venosus α wave (DVα) reverse specificity, and the positive likelihood ratio was 99.57% and 53.41%, respectively. The sensitivity of the 3 indicators combined was 66.67%, which was higher than that of any single index, and the area under the receiver operating characteristic (ROC) curve of these 3 indicators combined was the largest (AUC: 0.86). 4. Seventy patients in total were examined by combined TVUS. There is no statistical difference between the two.ConclusionsA positive linear correlation was found between NT thickness and the detection rate of fetal cardiac structural abnormality and chromosome abnormality. Early pregnancy NT screening combined with TV blood flow spectrum and DV blood spectrum screenings has high specificity and sensitivity in the diagnosis of CHD. Combined transabdominal and TVUS in early pregnancy can reduce the rates of misdiagnosis and missed diagnosis of fetal CHD.

The Application of Magnetic-Controlled Capsule Gastroscopy in Patients Refusing C-EGD: A Single-Center 5-Year Observational Study.

Background and Aims Screening for gastric diseases in symptomatic outpatients with conventional esophagogastroduodenoscopy (C-EGD) is expensive and has poor compliance. We aimed to explore the efficiency and safety of magnetic-controlled capsule gastroscopy (MCCG) in symptomatic outpatients who refused C-EGD. Methods We performed a retrospective study of 76794 consecutive symptomatic outpatients from January 2014 to October 2019. A total of 2318 adults (F/M = 1064/1254) in the MCCG group who refused C-EGD were matched with adults in the C-EGD group using propensity-score matching (PSM). The detection rates of abnormalities were analyzed to explore the application of MCCG in symptomatic patients. Results Our study demonstrated a prevalence of gastric ulcers (GUs) in patients with functional dyspepsia- (FD-) like symptoms of 8.14%. The detection rate of esophagitis and Barrett's esophagus was higher in patients with typical gastroesophageal reflux disease (GERD) symptoms than in patients in the other four groups (P < 0.01). The detection rates of gastric ulcers in the five groups (abdominal pain, bloating, heartburn, follow-up, and bleeding) were significantly different (P = 0.015). The total detection rate of gastric ulcers in symptomatic patients was 9.7%. A total of 7 advanced carcinomas were detected by MCCG and confirmed by endoscopic or surgical biopsy. The advanced gastric cancer detection rate was not significantly different between the MCCG group and the C-EGD matched group in terms of nonhematemesis GI bleeding (2 vs. 2, P = 1.00). In addition, the overall focal lesion detection rate in the MCCG group was superior to that in the C-EGD matched group (224 vs. 184, P = 0.038). MCCG gained a clinically meaningful small bowel diagnostic yield of 54.8% (17/31) out of 31 cases of suspected small bowel bleeding. No patient reported capsule retention at the two-week follow-up. Conclusion MCCG is well tolerated, safe, and technically feasible and has a considerable diagnostic yield. The overall gastric diagnostic yield of gastric focal lesions with MCCG was comparable to that with C-EGD. MCCG offered a supplementary diagnosis in patients who had a previously undiagnostic C-EGD, indicating that MCCG could play an important role in the routine monitoring and follow-up of outpatient. MCCG shows its safety and efficiency in symptomatic outpatient applications.

Cross-section investigation on refractive status and influencing factors of preschool children in Changdu, Tibet

Objective: To investigate the influencing factors of refractive status of preschool children in Changdu, Tibet. Methods: From July 2020 to October 2020, a cross-section investigation was performed among preschool children in Changdu, Tibet. The general information was collected, and the uncorrected refractive status was recorded and investigated. The measurement data were expressed by mean±standard deviation, and the t-test and χ2 test were used for univariate analysis. The questionnaire of factors influencing children's visual acuity was distributed to the parents of the children. The independent variables included height, weight, nutritional status, parents' eyesight, sleeping time and habits that were bad for eyes. Multivariate logistic regression analysis was used to explore the influencing factors of refractive status, including age and gender. Results: A total of 2 793 children were screened, among whom 2 646 (98.64%) children including 1 501 males and 1 145 females were inhabitants in the plateau region. The average age was (4.52±0.97) years. Refractive abnormalities were found in 253 children (9.56%). The detection rate of refractive abnormalities increased with age. There was no significant difference between males and females (χ²=1.79, P>0.05). The total abnormal refraction rate of preschoolers was lower in the plateau region than the non-plateau region (χ²=13.93, P<0.05). The parental refractive status (OR=0.06, 95%CI: 0.04-0.08) and nutritional factors (OR=0.11, 95%CI: 0.04-0.25) had higher correlations with the refractive abnormalities of preschoolers. Conclusions: The rate of refractive abnormalities of preschool children was relatively low in Changdu, Tibet. One of the effective measures to prevent ametropia in the plateau area can be balanced nutrition. (Chin J Ophthalmol, 2021, 57: 772-776).

Analysis of fundus examination results in 8 808 pediatric patients in Northwest China

Objective: To explore the incidence and age distribution of fundus abnormalities in pediatric patients aged 0-3 years in northwest China. Methods: A retrospective study of the clinical data of 8808 pediatric patients aged 0-3 years who underwent fundus examination with a wide-filed digital retinal imaging system and an indirect ophthalmoscope in our hospital from January 2008 to December 2019 were performed. There were 5092 males and 3716 females, with a median age of 1 month (range, 3 days to 3 years), a mean gestational age of 34.32 (SD 2.92) weeks (range, 24 to 42 weeks) and a mean birth weight of 2006.92 (SD 709.23) g (range, 490 to 5500 g), from Shaanxi Province (7415 cases, 84.18%), Gansu Province (770 cases, 8.74%), Ningxia Hui Autonomous Region (94 cases, 1.07%), Qinghai Province (53 cases, 0.60%), Xinjiang Uygur Autonomous Region (14 cases, 0.16%) and other neighboring areas (462 cases, 5.25%). The fundus condition of the enrolled pediatric patients was documented to calculate the annual detection rate. The joinpoint regression model was drawn to estimate the annual percent change and average annual percent change. The constituent ratios and age distribution of different types of fundus abnormalities were finally analyzed. Results: Fundus abnormalities were detected in 2 531 cases (28.74%). During the 12 years, the number of pediatric patients undergoing fundus examination each year in our center increased rapidly in the first 7 years, and then kept almost stable, while the number of fundus abnormality cases increased year by year. The positive detection rate showed an overall upward trend with an average annual percent change of +7.2%, and it was +30.09% from 2016 to 2019. Among all the pediatric patients with fundus abnormalities, there were 1 678 cases with developmental diseases (66.30%), 232 cases with hereditary diseases (9.16%), 140 cases with ocular tumor (5.53%), 64 cases with ophthalmic manifestations of systemic diseases (2.53%), 31 cases with ocular trauma (1.23%), 12 cases with infectious diseases or inflammation (0.48%) and 438 cases with other ocular abnormalities (17.31%). The top 5 abnormalities were retinopathy of prematurity (ROP; 1477 cases, 58.36%), gray patchy retinopathy (225 cases, 8.89%), retinal hemorrhage (157 cases, 6.20%), retinoblastoma (137 cases, 5.41%) and familial exudative vitreoretinopathy (77 cases, 3.04%). Fundus abnormalities varied with age. ROP, developmental diseases other than ROP, hereditary diseases, ocular trauma and infectious diseases were mostly detected in pediatric patients at 0-6 months old, while tumors were mostly detected after 1 year old. Conclusions: The detection rate of fundus abnormalities in the Department of Ophthalmology of Xijing Hospital of Air Force Medical University, a tertiary referral center in northwest China, increased notably year by year. The abnormalities were mainly developmental and hereditary lesions as well as of certain age distribution. They occurred with the highest frequency between birth and 6 months of age, in which ROP was in the ascendancy. Meanwhile, the detection rate of other developmental, hereditary and neoplastic disorders increased with age. Therefore, a comprehensive and objective understanding of the fundus disease in infants is essential. (Chin J Ophthalmol, 2021, 57: 777-783).

Clinical characteristics and therapeutic effect of TP53 variant in patients with acute leukemia

To explore the clinical characteristics and prognostic values of TP53 gene variant in patients with acute leukemia(AL). The clinical data of 44 newly diagnosed AL patients with TP53 variant detected by next generation sequencing (NGS) were analyzed retrospectively. Targeted sequencing technique containing 108 leukemia-related genes was used for variant analysis, and conventional R-banding technique was used for karyotype analysis. The clinical features, cytogenetics, gene variant, curative effect and survival of AL patients with TP53 gene variant were analyzed. The median age of AML patients with TP53 gene variant (46 years) was higher than that of ALL patients (17.5 years), and the median number of bone marrow blasts (40.5%) was lower than the latter (89.2%), the differences were statistically significant (P< 0.01). A total of 28 cases of abnormal karyotype were detected, of which 25 cases were complex karyotype, 16 cases were monomeric karyotype, 14 cases had -17/17p-. The detection rates of TP53 in complex karyotype, monomeric karyotype and -17/17p- were 59.5%, 38.1% and 33.3%, respectively. Subgroup analysis showed that the detection rate of TP53 gene abnormalities in AML and ALL complex karyotypes was 73.1% and 40% respectively, the difference was statistically significant. A total of 41 TP53 gene variant types were found, and the median variant frequency was 43.58%. 75.6% variant was located in the DNA binding domain. The concomitant variant genes were mainly TET2 and IKZF1. Among 18 AML and 17 ALL patients who could be evaluated the curative effect, the CR rate of one course of treatment was 22.2% and 94.12% respectively, and the difference was statistically significant. The median RFS of 4 cases of AML with CR and 16 cases of ALL with CR were 174 and 246 days respectively, the difference was statistically insignificant. The median OS of AML and ALL was 20 and 375 days respectively, the difference was statistically significant. The TP53 gene variant is associated with the complex karyotype of AML, but has no significant effect on ALL. The variant site of TP53 gene was mainly distributed in the DNA binding domain. The remission rate of AML with TP53 gene variant was lower than that of ALL. The prognosis of AL patients with TP53 gene variant is poor, so allogeneic hematopoietic stem cell transplantation should be performed as soon as possible to prolong the survival of the patients.

Effects of Smoking Behavior and Cognition of Tobacco Control on Digital Entertainment and Mental Health of School-Age Children during Holidays

Objectives: We studied the consequences of parental domestic smoking behavior on children’s digital entertainment and mental health during COVID-19, and put forward the initiative of family tobacco control toprotect children’s physical and mental health. Methods: From February 20 to February 23, 2021, using Sojump survey method, 800 smoking parents who live with children aged 6∼12 answered the questionnaire online about basic information, children’s digital entertainment status, strengths and difficulties (SDQ). Results: 60.8% of the children exposed to secondhand smoke spend more than 1 h on digital entertainment every day; abnormal detection rates of emotional symptoms, conduct problems, hyperactivity and inattention, peer interaction, pro-social behavior, and difficulty total scores are 29.2%, 38.2%, 6.5%, 80.3%, 22.0%, 40.0%, respectively. Single factor analysis suggests that there are statistical differences in the degree of impact of household monthly income and children’s life under smoking parents on digital entertainment duration (χ= 14.76, 10.88; P &lt;0.01). Binary logistic regression analysis reveals that more than 1 hour of digital entertainment per day is an important factor that triggers school-age children’s emotional symptoms, peer interactions, difficulties and high risks (OR=1.68, 1.89, 1.65; P&lt;0.05). Conclusions: The greater the impact of parents’ smoking on children’s life, the higher the proportion of children’s excessive digital entertainment. The excessive digital entertainment will bring many mental health hazards to children. In particular, the children long endurance to secondhand smoke are more possibly to have adverse reactions like emotional symptoms, misconduct issues, hyperactivity and inattention.

Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis.

Background:Chromosomal abnormalities are important causes of ventriculomegaly (VM). In mild and isolated cases of fetal VM, obstetricians rarely give clear indications for pregnancy termination. We aimed to calculate the incidence of chromosomal abnormalities and incremental yield of chromosomal microarray analysis (CMA) in VM, providing more information on genetic counseling and prognostic evaluation for fetuses with VM.Methods:The Chinese language databases Wanfang Data, China National Knowledge Infrastructure, and China Biomedical Literature Database (from January 1, 1991 to April 29, 2020) and English language databases PubMed, Embase, and Cochrane Library (from January 1, 1945 to April 29, 2020) were systematically searched for articles on fetal VM. Diagnostic criteria were based on ultrasonographic or magnetic resonance imaging (MRI) assessment of lateral ventricular atrium width: ≥10 to <15 mm for mild VM, and ≥15 mm for severe VM. Isolated VM was defined by the absence of structural abnormalities other than VM detected by ultrasonography or MRI. R software was used for the meta-analysis to determine the incidence of chromosomal abnormalities and incremental yield of CMA in VM, and the combined rate and 95% confidence interval (CI) were calculated.Results:Twenty-three articles involving 1635 patients were included. The incidence of chromosomal abnormalities in VM was 9% (95% CI: 5%–12%) and incremental yield of CMA in VM was 11% (95% CI: 7%–16%). The incidences of chromosomal abnormalities in mild, severe, isolated, and non-isolated VM were 9% (95% CI: 4%–16%), 5% (95% CI: 1%–11%), 3% (95% CI: 1%–6%), and 13% (95% CI: 4%–25%), respectively.Conclusions:Applying CMA in VM improved the detection rate of abnormalities. When VM is confirmed by ultrasound or MRI, obstetricians should recommend fetal karyotype analysis to exclude chromosomal abnormalities. Moreover, CMA should be recommended preferentially in pregnant women with fetal VM who are undergoing invasive prenatal diagnosis. CMA cannot completely replace chromosome karyotype analysis.

Analysis on the health status of radiation workers in an international airport

Objective: To understand the occupational health status of radiation workers at an international airport, and to provide basis and reference for relevant competent authorities to conduct scientific and effective occupational health monitoring. Methods: From July to August 2019, 246 radiation workers at an international airport were selected as the research subjects (observation group) , and their occupational health examination data were collected. At the same time, 210 radiation workers from a medical institution were selected as the control group. The occupational health examination results of the two groups were compared. And the differences in occupational health examination results of airport radiation workers among difference service age were analyzed. Results: Compared with the control group, the detection rates of ocular lens opacity (1.63%, 4/246) and abnormal blood glucose (4.07%, 10/246) in the observation group were lower, the detection rates of abnormal skin (11.79%, 29/246) , abnormal B-ultrasound of liver, gallbladder and spleen (75.61%, 186/246) and abnormal chest X-ray (5.28%, 13/246) were higher (P<0.05) . There were significant differences in the abnormal detection rates of skin, blood glucose, B-ultrasound of liver, gallbladder and spleen among airport radiation workers with different service age (P<0.05) . Abnormal chromosome of peripheral blood lymphocytes, abnormal chest X-ray were mainly distributed in the service age of ≥20 years. The abnormal rate of B-ultrasound of liver, gallbladder and spleen was higher in different working age groups. Conclusion: Long term low-dose irradiation will have a certain impact on the occupational health of airport radiation workers. The occupational health monitoring of relevant personnel should be strengthened to protect their occupational health.

Analysis of genetic abnormalities and clinical outcome of fetus with ultrasonic nonstructural abnormality

Objective: To analysis the incidence of abnormal genetics and the clinical outcome of fetuses with ultrasonic nonstructural abnormality. Methods: This study was conducted retrospectively. 631 pregnant women were enrolled in the Prenatal Diagnostic Center of Fujian Maternal and Child Health Hospital due to ultrasonic nonstructural abnormality from January 2016 to January 2019. According to different gestational weeks, amniotic fluid or umbilical cord blood samples were collected for chromosome karyotype analysis and SNP-array. According to the number of nostructural abnormalities, they were divided into 1 nostructural abnormality group, 2 nostructural abnormalities group, and ≥3 nostructural abnormalities group. Chi-square test was used for comparison between groups. Results: Of the 631 cases, 34 cases (5.4%, 34/631) had abnormal karyotypes, including 20 cases with abnormal chromosome number and 14 cases with abnormal chromosome structure. In results of SNP-array, there were 53 abnormal results (8.4%, 53/631), including 32 cases of pathogenic copy number variations (CNV) and 21 cases of variations of uncertain clinical significance (VOUS). The rates of pathogenic CNV were 4.57% (21/260), 4.76% (7/147) and 16.67% (4/24) in the group of 1, 2 and ≥3 nostructural abnormalities, respectively. The rate of the three groups showed a linear trend, and the difference was statistically significant (χ²=7.419,P<0.05). In the single nostructural abnormality group, the rate of pathogenic CNV of nasal bone dysplasia, fetal growth restriction (FGR) and thickened nuchal translucency (NT) were 8.11% (3/37), 7.04% (5/71) and 5.60% (7/125), respectively. Conclusions: Compared with the karyotype analysis, SNP-array can significantly improve the detection rate of genetic abnormalities in ultrasonic nonstructural abnormality. When multiple ultrasonic nonstructural abnormality were combined, the risk of genetic abnormalities showed an upward trend.

Trends of fetal chromosome analysis by amniocentesis before and after beginning of noninvasive prenatal testing: A single-center experience in Japan.

This study is to investigate the role of amniocentesis for prenatal diagnosis before and after the beginning of noninvasive prenatal testing (NIPT) in Japan. We performed a retrospective analysis of genetic amniocentesis at mid-trimester (15-20 gestational weeks) for fetal karyotype analysis at Nagoya City University between April 2006 and March 2020. The indications, test results, and the detection rate of fetal abnormal karyotype were compared before (phase 1, P1) and after (phase 2, P2) beginning of NIPT at April 2013. A total of 2458 (P1: 1132, P2: 1326) amniocentesis were enrolled in this study. The most frequent indication was advanced maternal age in both phases (P1: 78.2% %, P2: 81.1%). In P2, 110 patients (8.3%) received amniocentesis after positive or nonreportable NIPT results. Other indications were fetal abnormal findings by ultrasounds (P1: 15.4%, P2: 17.7%), abnormal maternal serum screening results (P1: 8.0%, P2: 10%), previous child with fetal chromosome aberration (P1: 6.5%, P2: 3.5%), and translocation of either partner (P1:1.5%, P2: 2.1%). The detection rate for fetal chromosomal aberrations including all indications was significantly increased in P2 (15.9%, 95% CI 14.0-18.0) as compared to P1 (9.0%, 7.4-10.8). However, if the indication was only advanced maternal age, the positive detection rate kept low in both phases (P1: 5.2%, 3.7-7.1, P2: 4.2%, 2.9-5.9). Since the initiation of NIPT, the detection rate of fetal chromosomal abnormalities was higher in this study, suggesting that amniocentesis cannot be strongly recommended for advanced maternal age alone.

Health survey and analysis of workers exposed to noise and dust in a candy manufacturing enterprise

Objective: To investigate the occupational hazards and the health status of workers in a candy manufacturing enterprise, to study the nonspecific effects of noise on cardiovascular and digestive systems, and to further explore the combined effect of noise and dust on workers' health. Methods: In 2019, all 564 employees of a candy manufacturing enterprise in Guangzhou were selected as the research objects. According to the exposure to occupational hazards, the research objects were divided into control group (101 persons) , noise exposure group (272 persons) and noise dust combined exposure group (191 persons) . According to the requirements of GBZ 188-2014 "Technical Specification for Occupational Health Monitoring", the employees were given occupational health examination. Blood pressure, electrocardiogram, liver function, binaural pure tone audiometry and other indicators were analyzed by gender, age and length of service. Results: The abnormal hearing rate of the workers in the control group, noise exposure group, and noise dust combined exposure group were 12.9% (13/101) , 24.6% (67/272) , and 36.1% (69/191) , respectively, showing a significant increasing trend (P<0.05) . Compared with the control group, the abnormal rates of electrocardiogram, abnormal blood pressure and fatty liver detection rate of the workers in the noise exposure group and the noise dust combined exposure group were significantly increased (P<0.017) . The abnormal hearing rate and fatty liver detection rate of male employees showed an increasing trend among the three groups (P<0.05) . The abnormal hearing and blood pressure rates of 40 to 49-year-old employees showed an increasing trend (P<0.05) . The rates of abnormal hearing of employees with≥50 years old and working experience <10 and 10-19 years showed an increasing trend (P<0.05) . The abnormal rate of electrocardiogram and the fatty liver detection rate of employees with more than 20 years of service had an increasing trend (P<0.05) . Conclusion: Noise is the main occupational hazard factor in candy manufacturing enterprises, which may be related to cardiovascular system and digestive system damage. At the same time, dust may strengthen the hearing loss caused by noise.

Analysis of spirometer data of 5272 coal dust-exposed miners

Objective: To analyze the spirometer data of coal mine workers, explore the impact of coal dust on the lung function of coal mine workers. Methods: From June to December 2018, 5272 male coal mine dust-exposed workers who underwent occupational health examinations at the Xinjiang Uygur Autonomous Region Occupational Disease Prevention and Treatment Hospital were selected as the research subjects. The basic information and spirometer data of the workers were collected and analyzed for different ages, years of service and the degree of lung function injury of workers exposed to dust and its influencing factors. Results: The total detection rate of lung function injury among dust-exposed workers was 33.9% (1785/5272) . The type of injury was mainly restrictive ventilatory dysfunction (66.7%, 1190/1785) , followed by mixed ventilatory dysfunction (31.4%, 561/1785) , obstructive ventilatory dysfunction (1.9%, 34/1785) . The detection rate of mild lung function impairment was 21.0% (1105/5272) , The detected rate of moderate or higher lung injury was 12.9% (680/5272) . The abnormal detection rate of chest radiography was 3.4% (179/5272) . The logistic regression analysis of the factors affecting lung function damage showed that employees aged 40-<50 were more likely to detect overall lung function injury and the moderate or higher lung injury (P<0.05) , and that they had been working for 35 to 45 years and excavators were more likely to detect overall function injury and different degree of lung injury (P<0.05) . Conclusion: The lung function injury of coal mine dust-exposed workers is related to their age, dust-exposed working years and type of work, mainly with mild injury and restrictive ventilation dysfunction.

Application of Combined Ultrasound and Maternal Serum Biochemical Indexes in the Detection of Fetal Structural Abnormalities and Chromosomal Abnormalities

By exploring different prenatal diagnosis indications of fetal chromosomal abnormalities, it can provide a theoretical basis and reference value for clinical consultation of pregnant women with similar high-risk factors. In this paper, 1800 pregnant women undergoing amniotic fluid aspiration chromosomal examination in the prenatal diagnosis center were selected as the object of this study. Amniocentesis, fetal cell culture, and karyotype analysis were performed on pregnant women who were 14-20 weeks pregnant and had signed an informed consent. After amniocentesis fetal chromosome analysis, the type of fetal chromosomal abnormality was determined, and the detection rate of chromosomal abnormality was statistically described. Chi-square test was used for comparison between groups, P &lt; 0.05. This study shows that the use of ultrasound screening combined with maternal serum indicators is effective in screening fetal structural abnormalities and chromosomal abnormalities in early pregnancy, and significantly improves the detection rate of chromosomal abnormalities. The detection of fetal structural malformations is also very high, but it should be combined with ultrasound screening of mid-to-late pregnancy. The tricuspid regurgitation and umbilical vein a-wave reversal in the soft ultrasound index can be used as predictors of fetal congenital heart disease in early pregnancy.

Chromosome Aberrations Detected By SNP Array Technique Indicating a High Risk of MDS Transformation in Patients with Icus and Poor Prognosis of Patients with MDS

AbstractPurpose: To evaluate the value of single nucleotide polymorphism array (SNP-A) analysis on the diagnosis and prognosis of Chinese patients with myelodysplastic syndromes (MDS).Methods: 416 cases were recruited from two medical centers in China; of which 200 cases were diagnosed with MDS, 25 with myeloproliferative neoplasm (MPN), 63 with primary acute myeloid leukemia(AML), 40 with aplastic anemia (AA), 62 with idiopathic cytopenia of undetermined significance (ICUS), and 26 were healthy individuals. We analyzed chromosome abnormalities in all the cases with both SNP-A and metaphase cytogenetics (MC) methods, and evaluated their clinical significance as well. Clinical data analyzed included age, sex, blood counts, marrow morphology, blast counts, progression free survival (PFS) and overall survival(OS).Results: 1. SNP-Aanalysis leaded to a significantly higher detection yield of chromosome abnormalities than MC examination. The abnormal detection rate for MDS, MPN and AML by MC was 42%, 48% and 36.5%, but by SNP-A significantly increased to 73.5%,72% and 69.8%, respectively. Moreover, SNP-A analysis revealed complex types and genomic distribution patterns of chromosome aberrations. 2. Notably, 20 of the 62 ICUS patients had abnormal detections by SNP-A, and interestingly 17 of these 20 ICUS patients with abnormal SNP-A detections transformed to typical MDS with a median follow-up time at 11months(Table 1). 3. Prognosis of the MDS patients with abnormal SNP-A detections was significantly worse than that of those patients without abnormal SNP-A observations in OS (24 months vs not reached (NR); P=0.004) and PFS (15 vs 40 months; P=0.002). Prognosis of the patients identified with abnormal SNP-A detections in addition to a normal or a good IPSS-R prognostic MC finding in a patient was significantly inferior than that of those patients with no such additional SNP-A aberrations in OS (25 months vs NR; P=0.004) and PFS (17 months vs NR; P=0.002). For the patients stratified as high-risk and very-high-risk MDS by the revised International Prognostic Scoring System(IPSS-R), there were no differences between the patients with and without SNP-A abnormalities in OS (13 vs 12 months; P =0.537) and PFS (14 vs 10 months; P =0.368); However, in the group of patients with very-low-risk, low-risk, and intermediate-risk MDS, the patients with SNP-A abnormalities showed significantly inferior survival than those without abnormal SNP-A detections in OS (NR vs NR; P=0.001) and PFS (25 months vs NR; P=0.008). 4. By multivariable analysis the presence of SNP-A aberrations additional to MC analyses in a patient and a higher number of SNP-A abnormalities (≥3 per patient) were independent predictors of poor prognosis for patients with MDS (HR=2.33, P=0.003; HR=2.40, P=0.002).Conclusion:SNP-A analysis can help significantly improve the diagnosis and better evaluate the prognosis of patients with MDS, and help better assess the risk of MDS transformation in patients with ICUS. SNP-A analysis is of great practical value in clinical management. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Analysis of occupational health status of radiation workers in Guangdong Province

Objective: To discuss the effect of low-dose ionizing radiation on the health of radiation workers, and provide a basis for occupational health risk assessment of radiation workers. Methods: In January 2020, 3165 radiation workers who performed radiation occupational health examinations in Guangzhou Prevention and Treatment Hospital for Occupational Disease from January 2017 to December 2019 were selected as the research objects, and compared and analyzed the health status of radiation workers with different examination types (pre-job, in-job and off-job) , types of work, gender, and length of service. Results: The off-job occupational radiological health examination was rare at 2.3% (74/3165) . The abnormal detection rate of chest radiographs, renal function, thyroid function, and blood routine of the radiation workers in-job group was higher than that of the pre-job group (P<0.05) . No statistical difference was found in the abnormal detection rate of the examination items during the in-job group and the off-job group (P>0.05) . The blood routine abnormality detection rate of medical application group and industrial application group were higher than those of nuclear fuel group (P<0.05) . The abnormal detection rate of blood pressure and renal function of male radiation workers was higher than that of females, while the abnormal detection rate of blood routine of females was higher than that of males (P<0.05) . The abnormal detection rate of electrocardiogram, chest radiograph, blood pressure, renal function, thyroid function, and blood routine of radiation workers increased with increasing working age (P<0.05) . Conclusion: Occupational health status of radiation workers is not optimistic. Radiation occupational health monitoring should be strengthened, special attention should be paid to off-job radiation occupational health examination, focusing on the sensitive indicators of sensitive personnel, improving radiation protection conditions, and effectively protecting the occupational health of radiation workers.

Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues

BackgroundThe OncoScan microarray assay (OMA) using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP) loci enabled the detection of cytogenomic abnormalities of chromosomal imbalances and pathogenic copy number variants (pCNV). The small size of molecular inversion probes is optimal for SNP genotyping of fragmented DNA from fixed tissues. This retrospective study evaluated the clinical utility of OMA as a uniform platform to detect cytogenomic abnormalities for pregnancy loss from fresh and fixed tissues of products of conception (POC).ResultsFresh specimens of POC were routinely subjected to cell culture and then analyzed by karyotyping. POC specimens with a normal karyotype (NK) or culture failure (CF) and from formalin-fixed paraffin-embedded (FFPE) tissues were subjected to DNA extraction for OMA. The abnormality detection rate (ADR) by OMA on 94 cases of POC-NK, 38 cases of POC-CF, and 35 cases of POC-FFPE tissues were 2% (2/94), 26% (10/38), and 57% (20/35), respectively. The detected cytogenomic abnormalities of aneuploidies, triploidies and pCNV accounted for 50%, 40% and 10% in POC-CF and 85%, 10% and 5% in POC-FFPE, respectively. False negative result from cultured maternal cells and maternal cell contamination were each detected in one case. OMA on two cases with unbalanced structural chromosome abnormalities further defined genomic imbalances and breakpoints.ConclusionOMA on POC-CF and POC-FFPE showed a high diagnostic yield of cytogenomic abnormalities. This approach circumvented the obstacles of CF from fresh specimens and fragmented DNA from fixed tissues and provided a reliable and effective platform for detecting cytogenomic abnormalities and monitoring true fetal result from maternal cell contamination.

Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage.

IntroductionThe single most common cause of miscarriage is genetic abnormality.ObjectiveWe conducted a prospective cohort study to compare the performance of conventional karyotyping and chromosomal microarray analysis (CMA) using array comparative genomic hybridization (array-CGH) and single nucleotide polymorphism array (SNP-array) to identify genetic abnormalities in miscarriage specimens.MethodsA total of 63 miscarriage specimens were included. Conventional karyotyping, array-CGH, and SNP-array were performed and the results compared.ResultsGenetic abnormalities were detected in 31 cases (49.2%) by at least one testing modality. Single autosomal trisomy was the most common defect (71.0%), followed by polyploidy (16.1%), multiple aneuploidy (9.7%), and monosomy X (3.2%). Mosaicisms were identified in four cases and confirmed by fluorescence in situ hybridization (FISH) using appropriate probes. SNP-array had a higher detection rate of genetic abnormalities than array-CGH (93.5 vs. 77.4%), and conventional karyotyping had the lowest detection rate (76.0%). SNP-array enabled the detection of all types of genetic abnormalities, including polyploidy.ConclusionsAlthough conventional karyotyping and FISH are still needed, SNP-array represents the first choice for miscarriage because the technique showed excellent performance in the detection of genetic abnormalities and minimized the probability of testing failure as well as time, costs, and labor.Supplementary InformationThe online version contains supplementary material available at 10.1007/s40291-021-00523-9.

Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing.

BackgroundThe present study aimed to explore the etiological relationship between fetal abnormalities and copy number variations (CNVs) with the aim of intervening and preventing the birth of children with birth defects in time.MethodsSamples of 913 fetuses with puncture indications were collected from January 2017 to December 2019. Karyotype analysis and CNV sequencing (CNV‐seq) testing was performed for fetuses with ultrasonic abnormalities, a high risk of Down’s syndrome and an adverse birth history. All cases were followed up.ResultsIn total, 123 cases (13.47%) had abnormal karyotypes, including 109 cases with chromosome number abnormalities and 14 cases of chromosomal structural abnormalities. Thirty‐seven (4.05%) cases with pathogenic CNVs were detected. The detection rate of pathogenicity CNVs was 12.82% for mixed indications, followed by 7.5% for an adverse birth history, 5.88% at high risk of non‐invasive prenatal testing, 5.00% with an abnormal ultrasonic marker, 1.89% at high risk of screening for Down's syndrome and 1.45% with advanced maternal age. There were 12 (1.31%) cases with microduplications and 25 (2.74%) cases with microdeletions. Trisomy 21 (39.02%), trisomy 18 (13.82%) and Turner syndrome (9.76%) were the top three chromosome abnormalities. There were 104, 746 and 63 cases in the 11–13 weeks, 14–27 weeks 28–38 weeks gestational ages, respectively. The abnormal rates of fetal chromosome aneuploidy and the rate of pathogenic CNVs were decreased and increased with the increase of gestational age (p < 0.05), respectively.ConclusionsCompared with karyotype analysis, CNV‐seq can improve the detection rate of chromosomal abnormalities. CNV‐seq combined karyotype analysis should be performed simultaneously in fetuses with puncture indications.