1.Prevalence and influencing factors of mild cognitive impairment in the elderly in Songjiang District, Shanghai
Xiuqin CHEN ; Zhiyuan LI ; Penghao LIU ; Junling GAO ; Yiling WU ; Limei HUANG
Journal of Environmental and Occupational Medicine 2024;41(3):318-322
Background With the aging of China's population, cognitive impairment in the elderly is receiving increasing public attention. Screening and intervention of people with mild cognitive impairment (MCI) are of great significance to prevent and reduce the occurrence of cognitive impairment. Objective To understand the prevalence and explore potential influencing factors of MCI in the elderly in Songjiang District, Shanghai, and to provide scientific basis for promoting early screening of cognitive impairment and precise intervention of MCI in the elderly in this area. Methods A cross-sectional study design was adopted. From August to October 2022, using multi-stage random sampling, 1800 elderly residents aged 60 years and above were screened for cognitive impairment in 6 neighborhood/village committees in 6 towns in Songjiang District. The survey questionnaires included a sociodemographic questionnaire, a health status and lifestyle questionnaire, the Instrumental Activities of Daily Living (IADL), the Patient Health Questionnaire (PHQ-9), and the Mini-Mental State Examination (MMSE). Prevalence rates of MCI among the elderly by selected social demographic characteristics, health status, and lifestyle were estimated, and potential influencing factors of MCI were evaluated by binary logistic regression. Results A total of 209 elderly residents with MCI and 1591 healthy elderly residents were detected, and the prevalence of MCI in the elderly aged 60 and above was 11.6% in Songjiang District. Being physically active (OR=0.556, 95%CI: 0.399, 0.774) reduced the risk of MCI. Illiteracy (OR=1.810, 95%CI: 1.239, 2.644), primary school education level (OR=3.454, 95%CI: 2.342, 5.092), non-participation in social activities (OR=1.945, 95%CI: 1.360, 2.781), IADL damaged (OR=3.173, 95%CI: 2.137, 4.712), and depression (OR=1.957, 95%CI: 1.112, 3.443) increased the risk of MCI (P<0.05). Conclusion The prevalence of MCI among the elderly in Songjiang District is lower than the national average. Educational level, physical activity, participation in social activities, IADL, and depression may be the influencing factors of MCI in the elderly. It is recommended to carry out early screening, early detection, and early intervention for cognitive impairment in the elderly. Improving involvement in physical exercise and increasing participation in social activities are encouraged. Special attention should be paid to the needs of vulnerable groups such as low education level and disabled elderly during a community MCI intervention program.
2.Digital intervention:current status of the integration of digital medicine with interventional radiology
Journal of Interventional Radiology 2024;33(1):1-6
As a cross-field discipline,digital intervention integrates digital technology with interventional therapeutic methods.In the clinical practice of interventional radiology,the digital medicine,through using the basic tools such as electronic health records,artificial intelligence,wearable devices,remote monitoring,etc.,has been deeply integrated into the advanced imaging technology,interventional surgery planning,image-guided procedure,navigation equipment,interventional surgery robot,3D printing,remote medical education and training,and other aspects of the clinical work,which greatly optimizes the diagnostic and therapeutic processes and improves the efficiency and precision of medical services.At the same time,digital intervention also brings challenges related to data security and privacy security in medical services.Therefore,more attention should be paid to the balance between the technology and the medical ethics when planning for the future development direction of digital intervention so as to make sure that digital intervention can be continuously and safely developed.(J Intervent Radiol,2024,32:1-6)
3.Clinical characteristics of patients >65 years old with acute exacerbation of chronic obstructive pulmonary disease and COVID-19 infection
Yuanzhen JIAN ; Caijun WU ; Li LI ; Jiahao DU ; Aiguo ZHANG ; Zhiyuan NIE ; Qiaojie SUN
Journal of Chinese Physician 2024;26(2):166-171
Objective:To investigate the clinical characteristics of patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) and corona virus disease 2019 (COVID-19) infection.Methods:Clinical data of AECOPD patients over 65 years old who were diagnosed in the Respiratory and Emergency Departments of the Dongzhimen Hospital, Beijing University of Chinese Medicine from September 2022 to September 2023 were collected. AECOPD patients were divided into a COVID-19 group ( n=29) and a non COVID-19 group ( n=31). The platelet count, white blood cell count, lymphocyte count, neutrophil count, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), C-reactive protein (CRP), procalcitonin (PCT), partial pressure of oxygen (PO 2), partial pressure of carbon dioxide (PCO 2), D-dimer (D-D), and interleukin-6 (IL-6) were compared between two groups of patients upon admission Confusion, Uremia, Respiratory, BP, Age 65 Years (CURB-65) was used to compare length of hospital stay, AECOPD grading, and mortality endpoint days. Results:There was no statistically significant difference in platelet count, white blood cell count, lymphocyte count, neutrophil count, NLR, and PLR between the COVID-19 group and the non COVID-19 group (all P>0.05). The proportion of males, CRP, PCO 2, D-D, IL-6, and CURB-65 scores in the COVID-19 group were higher than those in the non COVID-19 group, while PCT and PO 2 were lower than those in the non COVID-19 group, with statistically significant difference (all P<0.05). The proportion of AECOPD grade Ⅲ in the COVID-19 group was significantly higher than that in the non COVID-19 group, and the progression rate of the disease was higher in the COVID-19 group (37.9% vs 22.6%, P<0.05). COVID-19 was an independent influencing factor for the progression of AECOPD. Conclusions:Patients over 65 years old with AECOPD infected with COVID-19 have a more pronounced inflammatory response, and CRP, IL-6, and CURB-65 scores can be used as indicators to evaluate the degree of inflammation. AECOPD infected with COVID-19 are more prone to coagulation disorders, hypoxemia, more severe illness, and easier progression, suggesting that COVID-19 infection is an independent influencing factor for the progression of AECOPD.
4.Successful Treatment of A Patient with Chronic Myeloid Leukemia Complicated by Cerebral Hemorrhage Manifesting as Platelet Abnormal Elevation
Xin ZHANG ; Xiao ZHANG ; Yi GUO ; Jun FENG ; Zhiyuan XIAO ; Zhaoxiang XIE ; Jing WU ; Dongrui XU ; Junji WEI ; Yu WANG
Medical Journal of Peking Union Medical College Hospital 2024;15(1):217-222
Platelet elevation is a rare manifestation in the peripheral blood of patients with chronic myeloid leukemia (CML). In this paper, we report for the first time a case of CML combined with cerebral hemorrhage manifested by abnormally elevated platelets. The patient had elevated platelets in the peripheral blood, showed normal coagulation function, and underwent intracranial hematoma removal due to cerebral hemorrhage. After the operation, bleeding from the operated area and other systems occurred, and the patient was diagnosed as having accelerated CML after combining bone marrow biopsy and genetic testing. His condition was controlled after administration of flumatinib through a jejunal tube. Based on this patient's experience, the feasibility ofadministering flumatinib via a jejunostomy tube was determined, which is the first report of its kind in China and abroad.This article summarizes the diagnosis and treatment process of this patient, with the aim of providing a warning and reference for clinicians.
5.Expert consensus on surgical treatment of oropharyngeal cancer
China Anti-Cancer Association Head and Neck Oncology Committee ; China Anti-Cancer Association Holistic Integrative Oral Cancer on Preventing and Screen-ing Committee ; Min RUAN ; Nannan HAN ; Changming AN ; Chao CHEN ; Chuanjun CHEN ; Minjun DONG ; Wei HAN ; Jinsong HOU ; Jun HOU ; Zhiquan HUANG ; Chao LI ; Siyi LI ; Bing LIU ; Fayu LIU ; Xiaozhi LV ; Zheng-Hua LV ; Guoxin REN ; Xiaofeng SHAN ; Zhengjun SHANG ; Shuyang SUN ; Tong JI ; Chuanzheng SUN ; Guowen SUN ; Hao TIAN ; Yuanyin WANG ; Yueping WANG ; Shuxin WEN ; Wei WU ; Jinhai YE ; Di YU ; Chunye ZHANG ; Kai ZHANG ; Ming ZHANG ; Sheng ZHANG ; Jiawei ZHENG ; Xuan ZHOU ; Yu ZHOU ; Guopei ZHU ; Ling ZHU ; Susheng MIAO ; Yue HE ; Jugao FANG ; Chenping ZHANG ; Zhiyuan ZHANG
Journal of Prevention and Treatment for Stomatological Diseases 2024;32(11):821-833
With the increasing proportion of human papilloma virus(HPV)infection in the pathogenic factors of oro-pharyngeal cancer,a series of changes have occurred in the surgical treatment.While the treatment mode has been im-proved,there are still many problems,including the inconsistency between diagnosis and treatment modes,the lack of popularization of reconstruction technology,the imperfect post-treatment rehabilitation system,and the lack of effective preventive measures.Especially in terms of treatment mode for early oropharyngeal cancer,there is no unified conclu-sion whether it is surgery alone or radiotherapy alone,and whether robotic minimally invasive surgery has better func-tional protection than radiotherapy.For advanced oropharyngeal cancer,there is greater controversy over the treatment mode.It is still unclear whether to adopt a non-surgical treatment mode of synchronous chemoradiotherapy or induction chemotherapy combined with synchronous chemoradiotherapy,or a treatment mode of surgery combined with postopera-tive chemoradiotherapy.In order to standardize the surgical treatment of oropharyngeal cancer in China and clarify the indications for surgical treatment of oropharyngeal cancer,this expert consensus,based on the characteristics and treat-ment status of oropharyngeal cancer in China and combined with the international latest theories and practices,forms consensus opinions in multiple aspects of preoperative evaluation,surgical indication determination,primary tumor re-section,neck lymph node dissection,postoperative defect repair,postoperative complication management prognosis and follow-up of oropharyngeal cancer patients.The key points include:① Before the treatment of oropharyngeal cancer,the expression of P16 protein should be detected to clarify HPV status;② Perform enhanced magnetic resonance imaging of the maxillofacial region before surgery to evaluate the invasion of oropharyngeal cancer and guide precise surgical resec-tion of oropharyngeal cancer.Evaluating mouth opening and airway status is crucial for surgical approach decisions and postoperative risk prediction;③ For oropharyngeal cancer patients who have to undergo major surgery and cannot eat for one to two months,it is recommended to undergo percutaneous endoscopic gastrostomy before surgery to effectively improve their nutritional intake during treatment;④ Early-stage oropharyngeal cancer patients may opt for either sur-gery alone or radiation therapy alone.For intermediate and advanced stages,HPV-related oropharyngeal cancer general-ly prioritizes radiation therapy,with concurrent chemotherapy considered based on tumor staging.Surgical treatment is recommended as the first choice for HPV unrelated oropharyngeal squamous cell carcinoma(including primary and re-current)and recurrent HPV related oropharyngeal squamous cell carcinoma after radiotherapy and chemotherapy;⑤ For primary exogenous T1-2 oropharyngeal cancer,direct surgery through the oral approach or da Vinci robotic sur-gery is preferred.For T3-4 patients with advanced oropharyngeal cancer,it is recommended to use temporary mandibu-lectomy approach and lateral pharyngotomy approach for surgery as appropriate;⑥ For cT1-2N0 oropharyngeal cancer patients with tumor invasion depth>3 mm and cT3-4N0 HPV unrelated oropharyngeal cancer patients,selective neck dissection of levels ⅠB to Ⅳ is recommended.For cN+HPV unrelated oropharyngeal cancer patients,therapeutic neck dissection in regions Ⅰ-Ⅴ is advised;⑦ If PET-CT scan at 12 or more weeks after completion of radiation shows intense FDG uptake in any node,or imaging suggests continuous enlargement of lymph nodes,the patient should undergo neck dissection;⑧ For patients with suspected extracapsular invasion preoperatively,lymph node dissection should include removal of surrounding muscle and adipose connective tissue;⑨ The reconstruction of oropharyngeal cancer defects should follow the principle of reconstruction steps,with priority given to adjacent flaps,followed by distal pedicled flaps,and finally free flaps.The anterolateral thigh flap with abundant tissue can be used as the preferred flap for large-scale postoperative defects.
6.Association between remnant cholesterol and the trajectory of arterial stiffness progression
Jinqi WANG ; Xiaohan JIN ; Rui JIN ; Zhiyuan WU ; Ze HAN ; Zongkai XU ; Yueruijing LIU ; Xiaoyu ZHAO ; Lixin TAO
Chinese Journal of Cardiology 2024;52(11):1302-1310
Objective:To explore the impact of baseline remnant cholesterol levels at a single time point and cumulative remnant cholesterol exposure on the progression trajectories of arterial stiffness.Methods:This prospective cohort study included 2 401 eligible participants from the Beijing Health Management Cohort who consecutively attended health examinations in 2010-2011, 2012-2013, and 2014-2015. The remnant cholesterol value measured in 2014-2015 served as the baseline remnant cholesterol level at a single time point. The cumulative exposure indices were calculated based on remnant cholesterol values from three health examinations from 2010 to 2015, including cumulative exposure, cumulative exposure burden, and duration of high remnant cholesterol exposure. Arterial stiffness was assessed by brachial-ankle pulse wave velocity (baPWV). The follow-up continued until December 31, 2019, with annual check-ups. During the follow-up period, a group-based trajectory model was employed to construct the progression trajectories of baPWV. The associations between the baseline remnant cholesterol level, cumulative exposure indices of remnant cholesterol and baPWV trajectories were examined using ordinal logistic regression models, adjusting for traditional cardiovascular risk factors and low-density lipoprotein cholesterol (LDL-C) levels.Results:The age of the 2 401 participants was 61 (54, 69) years, with 1 801 (75.01%) being male. The group-based trajectory model indicated that the best-fit model categorized the participants into three subgroups: low-rising group (1 036 individuals, 43.15%), moderate-rising group (1 137 individuals, 47.36%), and high-rising group (228 individuals, 9.50%). After adjusting for traditional cardiovascular risk factors, baseline remnant cholesterol levels at a single point ( OR=1.170, 95% CI: 1.074-1.274), cumulative remnant cholesterol exposure ( OR=1.194, 95% CI: 1.096-1.303), cumulative remnant cholesterol exposure burden ( OR=1.270, 95% CI: 1.071-1.507), and high-remnant cholesterol exposure duration (6 years: OR=1.351, 95% CI: 1.077-1.695) were significantly associated with the risk of developing a poor baPWV progression trajectory. These results remained significant after adjusting for cumulative average LDL-C levels. The association between baseline remnant cholesterol levels and baPWV progression became insignificant after adjusting for cumulative remnant cholesterol levels ( OR=1.053, 95% CI: 0.923-1.197), while the association between cumulative remnant cholesterol exposure and baPWV progression remained significant after adjusting for baseline remnant cholesterol levels ( OR=1.145, 95% CI: 1.008-1.305). Conclusions:Higher levels of baseline remnant cholesterol and cumulative remnant cholesterol are independent risk factors for the progression of arterial stiffness. These associations remain significant even after adjusting for traditional cardiovascular risk factors and LDL-C levels. Furthermore, the effect of cumulative remnant cholesterol levels on the progression of arterial stiffness was stronger than the effect of baseline remnant cholesterol levels.
7.Overexpression of NKx2.5 gene affects the anti apoptotic ability of mesenchymal stem cells and cardiac function after myocardial infarction
Fugang MAO ; Xinxin WU ; Xinhao CHEN ; Si LI ; Dan YAN ; Zhiyuan XIAO ; Jigang HE
Clinical Medicine of China 2024;40(3):191-196
Objective:To investigate the effects of overexpression of Nkx2.5 gene on the anti apoptotic ability of bone marrow mesenchymal stem cells (BMSCs) and cardiac function after myocardial infarction.Methods:A cell ischemia model was established by culturing cells under oxygen glucose deprivation/reoxygenat (OGD/R) conditions. The experiment was divided into four groups: bone marrow mesenchymal stem cells cultured under normal conditions (BMSC group), BMSC group cultured under glucose and oxygen deprivation (BMSC+OGD/R group), overexpressed empty vector BMSC group cultured under glucose and oxygen deprivation(BMSC NC+OGD/R group), and overexpressed Nkx2.5 BMSC group cultured under glucose and oxygen deprivation (BMSC Nkx2.5+OGD/R group). The apoptosis rate of BMSCs in each group was detected via flow cytometry, and BMSC protein was extracted. The expression of caspase-3 and pro-caspase-3, caspase-8 and pro-caspase-8, caspase-9, and cytochrome C protein and expression of Nkx2.5 in the BMSCs of each group were detected by Western blot to determine the anti-apoptotic pathway in vitro. The model of myocardial infarction in mice was established by ligating the left anterior descending branch of coronary artery. The experiment was divided into five groups: sham surgery group, myocardial infarction untreated group, myocardial infarction tail vein injection of BMSC group, myocardial infarction tail vein injection of BMSC empty body group, myocardial infarction tail vein injection of BMSC overexpression Nkx2.5 group. The changes of cardiac function in mice were evaluated by echocardiography. Normal distribution econometric data were compared between groups using convenient analysis, and pairwise comparisons were conducted using LSD-t test. Results:The apoptosis rate of the BMSC+OGD/R group (12.98±1.24)% was higher than that of the BMSC group (7.82±0.42)%, and the difference was statistically significant ( P<0.001). The apoptosis rate of the BMSC NKx2.5+OGD/R group (11.26±0.22)% was lower than that of the BMSC+OGD/R group (12.98±1.24)% and the BMSC NC+OGD/R group (13.14±0.70)%, with statistically significant differences ( P<0.05). Compared to BMSC group ((0.36±0.08), (1.13±0.04), (0.36±0.06), (1.12±0.13), (1.23±0.08), (0.60±0.05), (0.67±0.14)), BMSC+OGD/R group ((1.05±0.10), (0.62±0.04), (1.07±0.09), (0.57±0.07), (0.55±0.08), (1.25±0.09), (0.71±0.04)) and BMSC NC+OGD/R group ((1.16±0.16), (0.64±0.06), (1.19±0.16), (0.56±0.06), (0.50±0.06), (1.28±0.06), (0.73±0.04)), the expression of Caspase-3 (0.72±0.08) and pro-caspase-3(0.89±0.09), Caspase-8 (0.63±0.08) and pro-caspase-8(0.85±0.12), Caspase-9 (0.87±0.09), cytochrome C (0.91±0.10), and Nkx2.5 (1.54±0.16) in BMSC Nkx2.5+OGD/R group was statistically significant (all P<0.05). In vivo experiments showed that the heart ejection fraction (29.05±7.07)% of mice treated with BMSC Nkx2.5 after myocardial infarction was significantly improved compared to the BMSC group (16.57±2.09)% and BMSC NC group (18.08±3.27)% (all P<0.05). Conclusion:BMSC Nkx2.5 may enhance the anti-apoptosis ability of BMSCs and improve cardiac function after myocardial infarction by inhibiting the death receptor pathway and the mitochondrial signal pathway .
8.Impact of malignant cerebellar hemorrhage on prognosis of patients with small amount of spontaneous cerebellar hemorrhage
Chaozhen YANG ; Siying REN ; Guofeng WU ; Shiqi LIN ; Zhiyuan ZHANG ; Likun WANG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(5):535-538
Objective To investigate the effect of malignant cerebellar hemorrhage on 3-month prognosis of small spontaneous cerebellar hemorrhage.Methods Clinical data of 380 consecutive patients with spontaneous cerebellar hemorrhage admitted in Emergency Department of the Affil-iated Hospital of Guizhou Medical University,Neurosurgery Department of Jinyang Hospital Af-filiated to Guizhou Medical University,and Neurosurgery Department of the Second Affiliated Hospital of Guizhou Medical University from April 2014 to March 2023 were collected and retro-spectively analyzed,and finally,70 patients who met the requirements of small amount of sponta-neous cerebellar hemorrhage were enrolled in this study.They were assigned into benign cerebel-lar hemorrhage group(43 cases)and malignant cerebellar hemorrhage group(27 cases).Accord-ing to their clinical outcomes in 3 months after onset,they were divided into a good prognosis group(51 cases)and a poor prognosis group(19 cases).General clinical data,imaging data,com-plications,inflammatory indicators and prognosis were collected.After collinear diagnosis was used to exclude factors with collinear influence,the independent correlation between good progno-sis and poor prognosis was analyzed by binary logistic regression model.Finally,ROC curve was plotted to analyze the significant data.Results The maximum diameter of hematoma was signifi-cantly larger in the malignant cerebellar hemorrhage group than the benign group(P=0.021).The patients of the poor prognosis group had larger proportion of malignant cerebellar hemor-rhage,and higher neutrophil percentage,WBC count and NLR than those of the good prognosis group(P<0.05,P<0.01).Multivariate logistic regression analysis showed that malignant cere-bellar hemorrhage was an independent predictor of poor prognosis in 3 months(OR=6.218,95%CI:1.140-17.623,P=0.013).The sensitivity,specificity,positive predictive value,negative pre-dictive value and Youden index of malignant cerebellar hemorrhage in predicting the 3-month prognosis of patients were 63.2%,70.6%,44.4%,83.7%and 0.338,respectively,and the AUC value was 0.669.Conclusion Malignant cerebellar hemorrhage is an independent predictor of 3-month prognosis in patients with small spontaneous cerebellar hemorrhage.The patients with malignant cerebellar hemorrhage have poor prognosis than those with benign cerebellar hemorrhage.
9.Risk factors and development of a risk assessment model for postoperative venous thromboembolism in Cushing′s disease
Wenjuan LIU ; Dan LIU ; Min HE ; Qing MIAO ; Lijin JI ; Lili CHEN ; Yifei YU ; Zengyi MA ; Xuefei SHOU ; Shuo ZHANG ; Yutao WANG ; Zhiyuan WU ; Chaoyun ZHANG ; Yao ZHAO ; Yiming LI ; Yongfei WANG ; Hongying YE
Chinese Journal of Endocrinology and Metabolism 2024;40(6):487-493
Objective:To investigate the incidence and prothrombotic risk factors of postoperative venous thromboembolism(VTE) in Cushing′s disease and to further develop an assessment model to identify those at high risk of postoperative VTE events.Methods:A retrospective study was performed in 82 patients who were admitted to Huashan Hospital, Fudan University during January 2019 and January 2020 and diagnosed with Cushing′s disease. These patients underwent the evaluation about their clinical, hormonal, and coagulation parameters, as well as ultrasonography and pulmonary angio-CT when necessary. The least absolute shrinkage and selection operator(LASSO) regression analysis was used to screen independent risk factors, and a nomogram model for postsurgical VTE risk assessment in Cushing′s disease was initially established, and Bootstrap method was used for internal verification. Finally, the predictive model was evaluated for calibration and clinical applicability in the study cohort.Results:Nineteen patients(23.17%) developed VTE events, with 14 cases occurring after endoscopic transsphenoidal surgery. Compared to patients without VTE, those in the VTE group were older( P<0.001), had longer postoperative bed rest, higher rates of current infection, higher HbA 1C levels, and more severe glucose tolerance impairment(all P<0.05). Through LASSO regression analysis, two independent risk factors for postoperative VTE were identified: Age and current infection. Then a VTE risk assessment nomogram model was established to predict the patients at high risk of VTE. In the nomogram model for VTE risk assessment, the area under the receiver operating characteristic curve was 0.868(95% CI 0.787-0.949), with the calibration curve closely aligning with the ideal diagonal line and the clinical decision curve exceeding the two extreme curves. Conclusions:Advanced perioperative assessment needs to be taken to screen those with high VTE risks in patients diagnosed with Cushing′s disease. Additionally, during the perioperative period, patients with Cushing′s disease should undergo mandatory physical activity or prophylactic anticoagulant therapy.
10.Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review
Jie WANG ; Xiaohua WANG ; Lichun ZHANG ; Yan HUANG ; Rina SHA ; Jin AN ; Yanting WU ; Zhiyuan GUO ; Yueqi JIA
Chinese Journal of Medical Genetics 2024;41(10):1243-1248
Objective:To explore the clinical and genetic characteristics of a child with autosomal recessive primary microcephaly (MCPH).Methods:A case study has been carried out on a boy who had presented at the Inner Mongolia Maternity and Child Health Care Hospital for microcephaly and mental deficiency in September 2022. Prenatal ultrasound images were retrospectively analyzed, and whole exome sequencing and Sanger sequencing were carried out for his family. A literature review was also carried out using keywords such as " ASPM gene", "microcephaly", "prenatal diagnosis", "primary microcephaly", " ASPM", "MCPH5", "MCPH", "autosomal recessive microcephaly", and "prenatal diagnosis on ultrasonography" on the PubMed database, Wanfang Data and China National Knowledge until September 2023. This study was approved by Medical Ethics Committee of the Inner Mongolia Maternity and Child Health Care Hospital (Ethics No. 2021-093-1). Results:The proband had shown progressive reduction in biparietal diameter (BPD) and head circumference (HC) during the fetal period. He was found to harbor compound heterozygous variants of the ASPM gene, which included a paternally derived c. 8044C>T (p.R2682X) and a maternally derived c.8652dup (p.A2885Sfs*35). Both variants were classified as pathogenic (PVS1+ PM2_Supporting+ PP4; PVS1+ PM2_Supporting+ PM3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). For other fetuses in his family, prenatal ultrasound and genetic testing were all normal. Literature research has identified 11 relevant articles, which included 14 MCPH cases. All of the MCPH5 cases had shown various degrees of reduced BPD/HC on fetal imaging (100%, 15/15). Developmental delay, intellectual disability, and attention deficits were noted in all survived cases, with one case having seizures (12.5%, 1/8). Their genotypes had included homozygotes (46.2%, 6/13) and compound heterozygotes (53.8%, 7/13) for nonsense variants (45%, 9/20) and frameshifting variants (55%, 11/20). Conclusion:The compound heterozygous variants c. 8044C>T (p.R2682X) and c. 8652dup (p.A2885Sfs*35) of the ASPM gene probably underlay the reduced BPD and HC in this proband with MCPH.


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