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Purpose: In recent years, the relationship between malignant tumors and atrial fibrillation has attracted more and more attention. Atrial fibrillation can also cause a series of adverse events, such as the risk of thromboembolism. Also, Warfarin is often used here. But, the relationship between cutaneous melanoma and atrial fibrillation, and between cutaneous melanoma and warfarin is still unclear. Therefore, we used a two-sample Mendelian randomization to assess the causal relationship between atrial fibrillation/warfarin and cutaneous melanoma (cM). Methods: Firstly, atrial fibrillation (ukb-b-11550; nCase = 3,518, nControl = 459,415) and warfarin (ukb-b-13248; nCase = 4,623, nControl = 458,310) as exposures, with genome-wide association studies (GWAS) data from the United Kingdom Biobank. And cM (ieu-b-4969; nCase = 3,751, nControl = 372,016) as outcome, with GWAS data from the IEU Open GWAS project. Subsequently, single-nucleotide polymorphisms (SNPs) were filtered from GWAS studies using quality control measures. In addition, two-sample Mendelian randomization (MR) analysis was performed to explore the causal relationship between atrial fibrillation or warfarin and cM and used inverse variance weighting (IVW) as the primary analytical method. Finally, relevant heterogeneity and sensitivity analysis were performed to ensure the accuracy of the results. Results: A causal relationship between atrial fibrillation and cutaneous melanoma was observed, and between warfarin and cutaneous melanoma. Conclusion: The atrial fibrillation may play a causal role in the development of cutaneous melanoma, but the mechanism and the causal relationship between warfarin and cutaneous melanoma needs to be further elucidated.
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Objective:To systematically review the related factors of depressive symptoms among men who have sex with men(MSM)in China.Methods:CNKI,Wanfang Data,VIP,CBM,EMbase,Pubmed,CINAHL,Web of Science and the Cochrane Library were searched from inception to February 17,2023.After literature screening and data extraction,two researchers independently assessed the quality of included studies according to the Agency for Healthcare Research and Quality.Results:A total of 21 articles with 11 822 participants were includ-ed.The results of meta-analysis showed that month income ≥3 000 yuan(OR=0.59),college degree or above(OR=0.59)and high self-esteem(OR=0.83)were protective factors,sexual role as the recipient(OR=1.68),dual sexual role(OR=1.41),multiple sexual partners(OR=1.65),sexual violence experience(OR=3.44),self-rated poor health status(OR=3.93),HIV/AIDS related discrimination(OR=1.13),HIV/AIDS related stress(OR=1.11)and suicidal tendency(OR=2.86)were risk factors for depressive symptoms.Conclusion:There are many related factors to the depressive symptoms of MSM.It is necessary to carry out early intervention on the basis of personalized assessment to reduce the occurrence of depressive symptoms among MSM.
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Stroke is a major public health problem in China and the world. Health management can reduce morbidity, disability rate, recurrence rate, mortality and burden of stroke patients effectively.And it can also improve the quality of life of stroke patients effectively. Although the research on stroke health management in China started later than that in foreign countries, a series of research achievements have been obtained in recent years. Therefore, this article reviews the research status of stroke health management in China, and put forward reflections and suggestions for future research and clinical practice. This literature review can provide reference for stroke health management in China.
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Objective To explore the correlation between serum beta 2-microglobulin(B2M)level and cerebral microbleeds(CMB)in the elderly.Methods A retrospective analysis of 636 elderly patients with chronic diseases admitted to the Department of Neurology of our hospital from Janu-ary 2020 to November 2022 was made.On the second day after admission,venous blood samples were collected to detect the serum B2M level,and brain magnetic resonance susceptibility weigh-ted imaging was performed.Then these patients were assigned into CMB group(82 cases)and CMB-free group(554 cases).Binary logistic regression analysis was employed to identify the inde-pendent risk factors for CMB.Results Binary logistic regression analysis showed that serum B2M level was an independent risk factor for CMB in elderly patients(Model 1:β=0.179,OR=1.196,95％CI:1.017-1.407,P=0.031;Model 2:β=0.215,OR=1.240,95％CI:1.048-1.468,P=0.012)after adjusting confounding factors.ROC curve analysis indicated that the optimal cutoff value of serum B2M level in diagnosing CMB was 1.805 mg/L,with a sensitivity of 70.7％and a specificity of 52.5％,and an AUC value of 0.657(95％CI:0.595-0.719,P＜0.01).Conclusion The increment of serum B2M level is closely related to CMB in the elderly population,so the pro-tein can be used as one of indicators for prediction of CMB in the population.
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Objective To apply ultrasound to monitor cardiac function changes after anthracycline exposure in children with acute leukemia,in order to obtain the indicators of early changes in their cardiac function.Methods Children with acute leukemia from 2018 March to December 2020 in the Children's Hospital of Kunming Medical University were enrolled according to the inclusion and exclusion criteria,their routine cardiac ultrasound and tissue Doppler condition were recorded,and the changes in systolic function were evaluated by Tei index including TeiS,TeiRL,TeiM and TeiT.Results The mean values of LVEF in the normal and the experimental group were both above 60%.FS,SV,and EDV were all in the normal range.While common indicant,the index of TDI or Tei was not statistically significant(P>0.05).The levels of TeiM,TeiRL and TieT in the groups that received a total dose of 200 mg/m2 anthracyclines and 250 mg/m2 were significantly different from that before treatment(P<0.05).Conclusion Tei index can be utilized as a sensitive indicator for early changes in left and right heart function after children with acute leukemia are exposed to anthracyclines.
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ObjectiveTo analyze the research status and trends in low-level occupational benzene exposure. Methods Articles on low-level occupational benzene exposure from Chinese and English journals from January 1st, 2000, to December 31th, 2022 were retrieved using the Web of Science and the China National Knowledge Infrastructure, and a bibliometric analysis was conducted. Results A total of 327 articles were included in the analysis, comprising 216 English articles and 111 Chinese articles. i) The number of articles published in English fluctuates greatly over the years, without a trend of continuous growth or decline. Authors from 359 research institutions in 45 countries and regions have published relevant English articles in 97 kinds of journals, involving 281 grants from 226 foundations. The top three countries in terms of articles amount were the United States, Italy, and China, with 81, 46, and 43 papers, respectively. The English articles mainly focused on mechanistic research at the genetic level, such as hematotoxicity, oxidative stress, and DNA damage. ii) The number of Chinese articles increased gradually after 2012, with the growth peak in 2017. Authors from 127 research institutions in 26 provinces, autonomous regions, and municipalities published Chinese articles in 51 kinds of journals, involving 154 grants from 78 foundations. Chinese articles tended to focus on benzene-induced hematotoxicity and occupational health damage. Conclusion Most studies on low-level occupational benzene exposure were conducted in China, the United States and Italy, focused on hematotoxicity. Monitoring international research topics and hotspots of the field has certain reference value for related research in China.
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Objective:To establish the evaluation criteria for the quality of nursing care in orthopaedic trauma specialties, and to provide a basis for scientific evaluation of the quality of nursing care in orthopaedic trauma specialties.Methods:From February to October 2023, John Hopkinson evidence-based method was used to synthesize the evidence, clinical investigation and semi-structured interview were used to draw up the "quality standard of nursing care in orthopaedic trauma specialty", and two rounds of Delphi method of expert inquiry were used to screen, demonstrate and calibrate the evaluation standard of nursing quality in orthopaedic trauma specialty.Results:The questionnaire recovery rate of 2 rounds of expert consultation was 100.00%, the coefficient of familiarity and authority of 2 rounds of expert consultation were 0.92 and 0.93. Through 2 rounds of expert letter consultation, the quality evaluation criteria of orthopaedic trauma specialist care were established, including 3 first-level indicators (structural quality, process quality and outcome quality), 22 second-level indicators and 85 third-level indicators.Conclusions:The process of constructing the evaluation standard of nursing quality in orthopaedic trauma specialty is scientific and reliable, which can provide standard guidance for clinical practice and is conducive to the development of specialized nursing.
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Objective To analyze the influencing factors of disaster resilience in medical rescue workers,to construct a prediction model for the low-level risk of disaster resilience in medical rescue workers,and to verify the predictive effect of the model.Methods Using the convenience sampling method and the snowball method,1 037 medical rescue workers who participated in disaster rescue in 18 provinces(autonomous regions and municipalities)were selected as the participants from May to July 2022.Online questionnaire surveys were conducted using general information questionnaires,disaster resilience measuring tools for healthcare rescuers,the Mindful Attention Awareness Scale,the Simple Coping Style Questionnaire and the Depression-Anxiety-Stress Scale.Univariate and multivariate logistic regression analyses were used to determine the independent influencing factors for the low level of disaster resilience of medical rescue workers.A risk prediction model was constructed,and a nomogram chart was drawn.The model's effectiveness was evaluated using the receiver operating characteristic curve(ROC)and calibration curve.The Bootstrap method was applied for internal validation.Results The logistic regression analysis showed that per capita monthly income of households,whether to participate in on-site disaster rescue,positive coping,mindfulness level,and adequacy of rescue supplies were independent influencing factors for the disaster resilience of medical rescue workers(P＜0.05).The predictive formula for the low-level risk of disaster resilience in medical rescue workers was established as follows:Logit(P)=8.741-0.381 x per capita monthly income of households-0.891 x whether to participate in on-site disaster rescue-2.544 x positive coping-0.020 x mindfulness level-0.222 x adequacy of rescue supplies.The area under the ROC curve was 0.823,and the optimal critical value was 0.353.The sensitivity and specificity were 79.12％and 71.43％,respectively.The Hosmer-Lemeshow test showed that x2=12.250(P=0.140),and the predicted curve fitted well with the ideal curve.The external validation showed that the sensitivity and specificity of the model were 75.00％and 66.39％,respectively,and the overall accuracy was 69.95％.Conclusion The prediction model in this study has sound predictive effects and can provide references and guidance for managers to select,recruit,and train medical rescue workers.
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Post stroke cognitive impairment (PSCI) is the most common complication in stroke patients, which seriously affects their quality of life. Early comprehensive treatment to intervene in mild cognitive impairment caused by stroke is of great significance in reducing and delaying the occurrence of dementia. This is a review on the latest treatment progress of PSCI.
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@#Objective To search for the key microRNAs (miRNAs) involved in myocardial fibrosis in hypertrophic cardiomyopathy, and to further explore the mechanisms involved in the regulation of myocardial fibrosis. Methods Forty-two patients with hypertrophic cardiomyopathy diagnosed and treated surgically in West China Hospital of Sichuan University from January 2014 to June 2018 were selected, including 29 males and 13 females, with a median age of 46 (15-69) years. In the myocardial tissue of patients with hypertrophic cardiomyopathy with different degrees of fibrosis, miRNAs with significantly different expression were screened and further verified at the cellular level. By regulating the expression of the target miRNAs, the expressions of fibrosis-related proteins and target genes were detected respectively. Finally, the target-binding relationship was verified by dual-luciferase reporter gene detection. Results miR-484 was up-regulated in severely fibrotic myocardial tissue and activated cardiac fibroblasts. After cardiac fibroblasts were activated by TGF-β1, the expression of miR-484 was significantly up-regulated, the expression of fibrosis-related proteins (CollagenⅠ, α-SMA) increased, and the expression of the target gene HIPK1 decreased (P<0.05). After inhibiting the expression of miR-484 by transfection of miR-484 antagomir, the expression of fibrosis-related proteins decreased, while expression of HIPK1 was up-regulated (P<0.05). The detection of dual luciferase reporter gene showed that the luciferase activity of the transfected WT-miRNA-484 mimics group was lower than that of the control group (P<0.05). Conclusion miR-484 is a pro-fibrotic miRNA that participates in the process of myocardial fibrosis by negatively regulating the expression of HIPK1. It can be used as a regulatory target to provide a therapeutic strategy for myocardial fibrosis.
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Objective:To investigate the correlation between serum lipoprotein (a) [LP(a)] and the severity of white matter hyperintensities (WMHs) in the middle-aged and elderly people in the community.Methods:Consecutive middle-aged and elderly residents residing in the community underwent physical examinations in the Affiliated Jiangning Hospital of Nanjing Medical University from June 2016 to August 2021 were retrospectively collected. Fasting venous blood was collected on the next day of admission to detect the level of Lp(a). During hospitalization, cranial MRI examination was performed and the severity of WMHs was graded using the Fazekas visual scoring method. Ordinal multivariate logistic regression analysis was used to determine independent related factors for the severity of WMHs.Results:A total of 1 752 patients were included in the analysis. There were 969 males (55.31%) and 783 females (44.69%). Their age was 66.18±10.32 years old. There were 1 167 patients (66.61%) in the mild WMHs group, 407 (23.23%) in the moderate WMHs group, and 178 (10.16%) in the severe WMHs group. Ordinal multivariable logistic regression analysis showed that after adjusting for confounding factors, a higher serum Lp(a) level was independently related to the severity of WMHs (with the first quartile as a reference, the third quartile: odds ratio 1.441, 95% confidence interval 1.050-1.976, P=0.023; the fourth quartile: odds ratio 1.717, 95% confidence interval 1.252-2.354, P=0.001). Conclusion:Serum Lp(a) is independently correlated with the severity of WMHs.
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The primordial follicle pool established in early life determines the ovarian reserve in the female reproductive lifespan. Premature exhaustion of primordial follicles contributes to primary ovarian insufficiency (POI), that is dependent by the initial size of the primordial follicle pool and by the rate of its activation and depletion. AAI, a powerful nephrotoxin with carcinogenic potential, is present in the Aristolochiaceae species, which can release AAI into soil as a persistent pollutant. In order to assess the potential risk of Aristolochic Acid I (AAI) exposure on mammalian oogenesis, we uncovered its adverse effect on primordial folliculogenesis in the neonatal mouse ovary and its effect on female fertility in adulthood. Pregnant mice were orally administrated with doses of AAI without hepatic or renal toxicity during late-gestation. Ovaries from offspring of administered female displayed gross aberrations during primordial folliculogenesis. Also, unenclosed oocytes in germ-cell cysts showed increased DNA damage. Furthermore, several key factors, including NANOS3, SOX9, KLF4, that govern early gonad's differentiation were abnormally expressed in the exposed ovary, while the follicle formation was partially restored by knockdown of Nanos3 or sox9. In adulthood, these aberrations evolved into a significant reduction in offspring number and impaired ovarian reserve. Together, our results show that AAI influences primordial folliculogenesis and, importantly, affected female fertility. This study shows that administration of drugs herbs or consumption of vegetables that contain AAs during pregnancy may adversely influence the fertility of offspring.
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Ovarian Reserve , Animals , Aristolochic Acids , Female , Mammals , Mice , Oocytes , Ovarian Follicle , Ovarian Reserve/physiology , Ovary , PregnancyABSTRACT
Objective:To investigate the correlation between global burden of small vessel disease(CSVD) on MRI and impaired spatial navigation in patients with CSVD.Methods:Patients with CSVD admitted to the Department of Neurology, Nanjing Jiangning Hospital from November 2020 to June 2022 were selected as the research subjects. The global burden of CSVD was scored according to the head MRI findings, and was divided into mild group (0-1 points), moderate group (2 points), and severe group (3-4 points). All patients were tested for spatial navigation function. Multivariate linear regression model was used to analyze the correlation between the global burden of CSVD and the spatial navigation function.Results:A total of 101 patients with CSVD were enrolled, including 37 patients in the mild group (36.6%), 28 in the moderate group (27.7%), and 36 in the severe group (35.6%). Age, glycosylated hemoglobin, total cholesterol, low-density lipoprotein cholesterol and creatinine, as well as the proportions of hypertension, diabetes, previous stroke or transient ischemic attack in the moderate group and the severe group were significantly higher than those in the mild group, while the high-density lipoprotein cholesterol was significantly lower than that in the mild group (all P<0.05). The spatial navigation function test showed that the environment + self-navigation, self-navigation and environment navigation functions of the moderate group and the severe group decreased significantly compared with the mild group (all P<0.05). Multivariate linear regression analysis showed that after adjusting for age, sex, hypertension, previous stroke or transient ischemic attack history and years of education, the global burden of CSVD and environment + self-navigation ( β=0.518, P<0.001), self-navigation ( β=0.481, P<0.001) and environmental navigation ( β=0.699, P<0.001) function had significant correlation. Conclusion:The global burden of CSVD is correlated with spatial navigation functions.
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Objective:To explore the effect of diet safety management based on swallowing function classification in perioperative period of elderly patients with hip fractures, so as to provide basis for improving perioperative food safety and shortening hospitalization time of patients with hip fracture.Methods:A total of 68 elderly patients with hip fractures in the First Medical Center of PLA General Hospital from December 2020 to August 2021 were selected and divided into experimental group and control group according to even and odd-number of admission number, each group contained 34 patients. The control group was given routine diet nursing and food safety education. The experimental group was given graded diet safety management according to the swallowing function evaluation results. The incidence of aspiration and length of hospital stay were compared between the two groups.Results:The incidence of chocking during hospitalization was 5.1% (78/1 517) in the control group and 1.2% (17/1 402) in the experimental group, and the difference was statistically significant ( χ2=35.73, P<0.01). The incidence of choking in the control group was 0.7% (11/1 517), and 0.4% (5/1 402) in the experimental group, and the difference was not statistically significant ( χ2=1.82, P>0.05). There was no significant difference in hospitalization time between the two groups, 10 (8,12) in the control group and 9 (8,11) in the experimental group ( Z=-1.33, P>0.05). Conclusions:The implementation of diet safety management based on swallowing function classification in elderly patients with hip fractures can reduce the incidence of coughing. Evaluation of swallowing function should be included in the evaluation of hip fractures in the elderly.
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Objectives:To investigate the effects of morning blood pressure on vascular endothelial function and chronic inflammatory response in the elderly.Methods:349 elderly people aged ≥60 who underwent 24-hour ambulatory blood pressure monitoring in Gaomi Municipal Hospital from April 2018 to October 2019 were selected to detect brachial artery flow mediated vasodilation (FMD) and chronic inflammatory factors [high-sensitivity C-reactive protein (hsCRP), tumor necrosis factor-α (TNF-α) and interleukin (IL)-17] levels. According to the results of 24-hour ambulatory blood pressure monitoring, the subjects were divided into normal blood pressure group ( n=108), simple morning hypertension group ( n=114) and hypertension group ( n=127). The clinical data, 24-hour ambulatory blood pressure parameters, vascular endothelial function and inflammatory factors of the three groups were compared. The correlation between 24-hour ambulatory blood pressure parameters and FMD and inflammatory factors was analyzed by partial correlation. Results:Compared with the normal blood pressure group, the simple morning hypertension group and the hypertension group had lower FMD (all P<0.05), higher serum hsCRP and TNF-α , IL-17 levels (all P<0.05). Compared with the simple morning hypertension group, the hypertension group had lower FMD ( P<0.05), higher serum hsCRP, TNF-α and IL-17 levels (all P<0.05). After controlling for age, sex, smoking history, drinking history, total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, fasting blood glucose and 24 h average blood pressure, the morning systolic blood pressure was negatively correlated with FMD ( P<0.05), and positively correlated with serum hsCRP and TNF-α and IL-17 levels (all P<0.05); the morning diastolic blood pressure was negatively correlated with FMD ( P<0.05) and positively correlated with serum hsCRP and TNF-α levels (all P<0.05). Conclusions:Morning blood pressure level is closely related to vascular endothelial function and chronic inflammation level, and is independent of 24-hour average blood pressure. The increase of morning blood pressure may be an important risk factor for endothelial dysfunction and chronic inflammation in the elderly.
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Objective:To investigate the effect of chronic compression of the dorsal root ganglion (CCD) on the Wnt/β-catenin signaling pathways in the spinal dorsal horns of rats.Methods:Forty-two adult male Sprague-Dawley rats were randomly divided into a sham group ( n=9) and a CCD group ( n=33). The CCD group was subdivided into a 1d group ( n=6), a 3d group ( n=6), a 7d group ( n=9), a 14d group ( n=6), and a 28d group ( n=6) based on the post-operative time of the experiments. Before the operation for CCD and 1, 3, 5, 7, 14, 21 and 28 days afterward the mechanical withdrawal threshold was detected for all rats. Western blotting was conducted to detect the expression of active β-catenin and glial fibrillary acidic protein (GFAP) in the dorsal horn of the spinal cord 1, 3, 7, 14 and 28 days after the surgery. Seven days after the operation immunofluorescence was employed to detect the nuclear translocation of active β-catenin and the activation of astrocytes in the dorsal horn of the spinal cord. Results:The average mechanical withdrawal thresholds of the CCD groups were significantly lower than that of the sham group at each time point. The western blotting showed that the expression of active β-catenin in the CCD groups was significantly greater than in the sham group at each time point. Seven days after compression the expression of GFAP in the rats′ dorsal horns was significantly higher than in the sham group. Immunofluorescence indicated nuclear translocation of active β-catenin and the activation of astrocytes in the dorsal horn.Conclusion:The Wnt/β-catenin signaling pathways are significantly activated in the dorsal horn of the spinal cord after CCD, at least in rats. It may play an important role in the development of neuropathic pain.
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Objective @#To investigate the protective effects of different types of lead collars on the thyroid during radio- therapy after breast-conserving surgery. @*Methods@#Forty breast cancer patients undergoing radiotherapy after breast-con- serving surgery were randomly divided into four groups to wear different lead collars for thyroid protection: control group (0 mm Pb), common material group (0.5 mm Pb), common material group (2 mm Pb), and new radiation-shielding material group (2 mm Pb). Radiation doses inside and outside lead collars were monitored. A questionnaire survey was conducted to acquire information on patient acceptance of the lead collars.@*Results@#All the groups (except the control group) showed significant differences between scattered radiation doses inside and outside lead collars (P < 0.05). The scattered radiation was attenuated by 33.64% on average in the 2-mm new material group, which was significantly higher than in the other groups (P < 0.05). After radiotherapy, there was no significant change in the color and appearance of skin under lead collars in any group. All the patients were normal at the first thyroid ultrasound re-examination. The 2-mm new material lead collar was the most acceptable.@*Conclusion @#The lead collar made of the new radiation-shielding material has a good protective effect on the thyroid gland, and is easily accepted by patients, which can be promoted for application.
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OBJECTIVE@#To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling.@*METHODS@#We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses.@*RESULTS@#Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb.@*CONCLUSION@#Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.
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Female , Humans , Pregnancy , Chromosomes, Human, Pair 4/genetics , Fetal Growth Retardation/genetics , Karyotyping , Prenatal Diagnosis , Retrospective Studies , Wolf-Hirschhorn Syndrome/geneticsABSTRACT
OBJECTIVE@#To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs) of 7q11.23 region.@*METHODS@#Prenatal cases with 7q11.23 microdeletion/microduplication detected by single nucleotide polymorphism array (SNP array) from January 2016 to June 2020 were retrospectively analyzed, including fetal ultrasound, chromosomal karyotype, SNP array, pregnancy outcome and follow-up. Literature on 7q11.23 CNVs identified upon prenatal diagnosis was also reviewed.@*RESULTS@#Five fetuses were found with 7q11.23 CNVs, including 3 microdeletions and 2 microduplications. Of them, 4 had ultrasonographic anomalies. The karyotypes of all fetuses were normal. Of three 7q11.23 microdeletions, two were de novo, while the remaining one couple did not accept parental verification. Of two 7q11.23 microduplications, one was de novo and the another was inherited from a phenotypic normal father. Three 7q11.23 microdeletions and one de novo 7q11.23 microduplication were electively aborted. One fetus carrying paternally inherited 7q11.23 microduplication was delivered full term. Follow-up found the infant had a normal phenotype.@*CONCLUSION@#Fetuses with 7q11.23 microdeletions or microduplications showed phenotypic heterogeneity. SNP array can accurately detect 7q11.23 CNVs, thereby provide accurate information for prenatal diagnosis and genetic counseling.
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Female , Humans , Pregnancy , DNA Copy Number Variations , Fetus , Karyotyping , Prenatal Diagnosis , Retrospective StudiesABSTRACT
OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.@*METHODS@#A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.@*RESULTS@#Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.@*CONCLUSION@#NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.