1.Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults (version 2024)
Qingde WANG ; Yuan HE ; Bohua CHEN ; Tongwei CHU ; Jinpeng DU ; Jian DONG ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Zhong GUAN ; Hua GUO ; Yong HAI ; Lijun HE ; Dianming JIANG ; Jianyuan JIANG ; Bin LIN ; Bin LIU ; Baoge LIU ; Chunde LI ; Fang LI ; Feng LI ; Guohua LYU ; Li LI ; Qi LIAO ; Weishi LI ; Xiaoguang LIU ; Hongjian LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Yong QIU ; Limin RONG ; Yong SHEN ; Huiyong SHEN ; Jun SHU ; Yueming SONG ; Tiansheng SUN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Hong XIA ; Guoyong YIN ; Jinglong YAN ; Wen YUAN ; Zhaoming YE ; Jie ZHAO ; Jianguo ZHANG ; Yue ZHU ; Yingjie ZHOU ; Zhongmin ZHANG ; Wei MEI ; Dingjun HAO ; Baorong HE
Chinese Journal of Trauma 2024;40(2):97-106
Ankylosing spondylitis (AS) combined with lower cervical fracture is often categorized into unstable fracture, with a high incidence of neurological injury and a high rate of disability and morbidity. As factors such as shoulder occlusion may affect the accuracy of X-ray imaging diagnosis, it is often easily misdiagnosed at the primary diagnosis. Non-operative treatment has complications such as bone nonunion and the possibility of secondary neurological damage, while the timing, access and choice of surgical treatment are still controversial. Currently, there are no clinical practice guidelines for the treatment of AS combined with lower cervical fracture with or without dislocation. To this end, the Spinal Trauma Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate Clinical guidelines for the treatment of ankylosing spondylitis combined with lower cervical fracture in adults ( version 2024) in accordance with the principles of evidence-based medicine, scientificity and practicality, in which 11 recommendations were put forward in terms of the diagnosis, imaging evaluation, typing and treatment, etc, to provide guidance for the diagnosis and treatment of AS combined with lower cervical fracture.
2.Value of magnetic resonance imaging-proton density fat fraction in evaluating the degree and distribution characteristics of hepatic steatosis in patients with chronic hepatitis B virus infection
Limin WANG ; Chao BAO ; Kaiyue ZHAO ; Jiehua JIN ; Zhuozhao ZHENG ; Yuan HUANG
Journal of Clinical Hepatology 2024;40(5):934-939
Objective To investigate the value of magnetic resonance imaging-proton density fat fraction(MRI-PDFF)in evaluating hepatic steatosis in patients with chronic hepatitis B virus(HBV)infection.Methods The patients,aged>16 years,who visited the outpatient service or were hospitalized in Beijing Tsinghua Changgung Hospital from January 2018 to December 2022 and were diagnosed with chronic HBV infection were enrolled,and all patients underwent MRI examination of the liver in our hospital.The patients were divided into groups based on the presence or absence of liver cirrhosis,and the consistency in PDFF between different hepatic segments was compared between groups.The Kappa consistency test and intraclass correlation coefficient(ICC)were used for consistency analysis.Results A total of 76 patients treated with nucleoside analogues were enrolled,among whom 23(30.26%)had liver cirrhosis.For all patients,the simple arithmetic average of PDFF fluctuated between 1.49%and 30.93%.According to MRI-PDFF≥5%as the diagnostic criterion for fatty liver disease,there were 29 patients(38.16%)with fatty liver disease among all patients.For all 76 patients,the simple arithmetic average of PDFF was lower than the weighted average of PDFF for the whole liver,and there was no significant difference between the simple arithmetic average of PDFF,the weighted average of PDFF,and the PDFF values of the left and right lobes of the liver(F=0.39,P=0.76).The consistency test showed that the PDFF values of each hepatic segment and the left and right lobes of the liver had strong consistency with the weighted average and simple arithmetic average of PDFF,with an ICC of>0.75,but the consistency between the PDFF value of the right lobe and the weighted average of PDFF was higher than that between the PDFF value of the left lobe and the weighted average of PDFF.In the consistency test of differentiating fatty liver disease in patients with liver cirrhosis,there was poor consistency between the PDFF value of segment Ⅶ and the weighted average of PDFF(Kappa=0.39),with moderate consistency for the left lobe and the Ⅰ,Ⅱ,Ⅲ,Ⅴ,Ⅵ,and Ⅷ segments.For the patients with liver cirrhosis,the lowest consistency was observed between the PDFF value of Ⅶ segment and the weighted average of PDFF for the whole liver,and the highest consistency was observed between the PDFF value of Ⅵ segment and the weighted average of PDFF for the whole liver.For the patients without liver cirrhosis,the lowest consistency was observed between the PDFF value of Ⅱ segment and the weighted average of PDFF for the whole liver,and the highest consistency was observed between the PDFF value of Ⅴ segment and the weighted average of PDFF for the whole liver.Conclusion MRI-PDFF is more comprehensive in evaluating hepatic steatosis in patients with chronic HBV infection,and for the patients with liver cirrhosis,there is poor consistency between the PDFF value of each segment and the weighted average of PDFF.
3.Distribution of Nardosinone and Its Metabolites in Rats Analyzed by UPLC-Q-Exactive Orbitrap MS/MS
Lijuan SHI ; Xuelian ZHAO ; Yifan TIAN ; Limin LI ; Yuan LIU ; Xiaojiang ZHOU ; Yanfei HUANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(22):187-195
ObjectiveUltra-performance liquid chromatography-quadrupole/electrostatic field orbitrap high resolution mass spectrometry(UPLC-Q-Exactive Orbitrap MS/MS) was used to investigate the metabolism and distribution of nardosinone in rats, then metabolic pathways were speculated. MethodRats were administered with 30 mg·kg-1 of nardosinone suspension by gavage for 3 consecutive days, and plasma, urine, feces, and tissues of heart, liver, spleen, lung, kidney, brain, stomach, and intestine were collected at predetermined time points. After treatment, the samples were processed for UPLC-Q-Exactive Orbitrap MS/MS, and the MS data were analyzed using Xcalibur 2.2 software. The metabolites were searched by comparing the base peak chromatogram and extracted ion chromatogram between the treated group and blank group, and based on the relative retention time(tR), quasi-molecular ion peak, precise molecular mass, and fragment ions of MS/MS, the elemental composition were searched using databases such as SciFinder and PubChem, as well as referring to relevant literature, the possible metabolites were identified and the metabolic pathways were inferred. ResultA total of 30 metabolites of nardosinone were identified, including 15, 19, 12, 7, 4, 11, 8, 13, 13, 8 and 12 metabolites in urine, feces, plasma, brain, heart, liver, spleen, lung, kidney, stomach and intestine, respectively. The main metabolic pathways of nardosinone in rats were hydroxylation, dehydroxylation, reduction, dehydrogenation, hydration, dehydration, carboxylation, glucuronidation, and dehydroxy-isopropyl. ConclusionNardosinone can be metabolized by phase Ⅰ and phase Ⅱ metabolism in rats, and the metabolites are widely distributed in the major organs. The results of this study can provide a basis for further research on the pharmacodynamic material basis, pharmacological mechanism and clinical application of nardosinone.
4.Feasibility of low-dose CT brain perfusion scanning based on deep learning reconstruction algorithm: a preliminary study
Limin LEI ; Yuhan ZHOU ; Xiaoxu GUO ; Hui WANG ; Jinping MA ; Zhihao WANG ; Weimeng CAO ; Yuan GAO ; Yuming XU ; Songwei YUE
Chinese Journal of Radiological Medicine and Protection 2024;44(7):613-621
Objective:To compare image quality and diagnostic parameters of whole-brain CT perfusion scans under different scanning conditions and assess the utility of deep learning image reconstruction algorithm (DLIR) in reducing tube current during low-dose scans.Methods:Method A total of 105 patients with suspected acute ischemic stroke (AIS) were prospectively enrolled in the First Affiliated Hospital of Zhengzhou University from March, 2022 to March, 203 and their baseline information was recorded. All patients underwent head non-contrast CT and CT perfusion (CTP) examinations. CTP scanning was performed at 80 kV in two groups with the tube current of 150 mA (regular dose) and 100 mA (low dose), respectively. The CTP images of 150 mA group were reconstructed using filtered back-projection algorithm as well as adaptive statistical iterative reconstruction-V (ASIR-V) at 40% and 80% strength levels, which were denoted as groups A-C. The CTP images of 100 mA group were reconstructed using ASIR-V80%, DLIR-M, and DLIR-H, which were denoted as groups D-F. Clinical baseline characteristics and radiation doses were compared between the two groups under different scanning conditions. Furthermore, we assessed the subjective and objective image quality, conventional perfusion parameters, and abnormal perfusion parameters of AIS patients across the six groups of reconstructed CTP images.Results:Under the scanning conditions of 150 mA and 100 mA, 47 and 48 patients were diagnosed with AIS, respectively. There were no significant differences in the baseline characteristics between the two groups. However, there was a significant difference in the mean effective radiation dose (5.71 mSv vs. 3.80 mSv, t = 2 768.30, P < 0.001). The standard deviation (SD) of noise, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR) of gray matter (GM) and white matter (WM) were significantly different among the six groups of reconstructed images ( F = 40.58-212.13, P < 0.001). In GM, the SD values in groups C, D, and F were lower than those in other groups ( P < 0.05), and the SNR values in groups C and F were higher than those in other groups ( P < 0.05). In WM, the SD and SNR values in groups C and F were significantly different from those in other groups ( P < 0.05). Additionally, CNR values in groups C and F were higher than those in other groups ( P < 0.05). There was no significant difference in subjective scores among groups B, C, and F ( P > 0.05). Regarding perfusion parameters in the brain GM, groups D and E had lower cerebral blood volume (CBV) values compared to groups A to C ( P < 0.05), and group F had lower CBV values than group B ( P < 0.05). In the brain WM, group D had consistently lower mean transit time (MTT) values compared to the other groups ( P < 0.05). Notably, there were no significant differences in AIS lesion detection rates and relevant diagnostic parameters across the six image groups. Conclusions:Low-tube current CTP scan combined with the DLIR-H algorithm can enhance image quality without affecting perfusion parameters such as CBV and MTT, while reducing radiation dose by 30%. This algorithm can be routinely applied in brain CTP examinations.
5.Individualized red-cell transfusion strategy for non-cardiac surgery in adults: a randomized controlled trial.
Ren LIAO ; Jin LIU ; Wei ZHANG ; Hong ZHENG ; Zhaoqiong ZHU ; Haorui SUN ; Zhangsheng YU ; Huiqun JIA ; Yanyuan SUN ; Li QIN ; Wenli YU ; Zhen LUO ; Yanqing CHEN ; Kexian ZHANG ; Lulu MA ; Hui YANG ; Hong WU ; Limin LIU ; Fang YUAN ; Hongwei XU ; Jianwen ZHANG ; Lei ZHANG ; Dexing LIU ; Han HUANG
Chinese Medical Journal 2023;136(23):2857-2866
BACKGROUND:
Red-cell transfusion is critical for surgery during the peri-operative period; however, the transfusion threshold remains controversial mainly owing to the diversity among patients. The patient's medical status should be evaluated before making a transfusion decision. Herein, we developed an individualized transfusion strategy using the West-China-Liu's Score based on the physiology of oxygen delivery/consumption balance and designed an open-label, multicenter, randomized clinical trial to verify whether it reduced red cell requirement as compared with that associated with restrictive and liberal strategies safely and effectively, providing valid evidence for peri-operative transfusion.
METHODS:
Patients aged >14 years undergoing elective non-cardiac surgery with estimated blood loss > 1000 mL or 20% blood volume and hemoglobin concentration <10 g/dL were randomly assigned to an individualized strategy, a restrictive strategy following China's guideline or a liberal strategy with a transfusion threshold of hemoglobin concentration <9.5 g/dL. We evaluated two primary outcomes: the proportion of patients who received red blood cells (superiority test) and a composite of in-hospital complications and all-cause mortality by day 30 (non-inferiority test).
RESULTS:
We enrolled 1182 patients: 379, 419, and 384 received individualized, restrictive, and liberal strategies, respectively. Approximately 30.6% (116/379) of patients in the individualized strategy received a red-cell transfusion, less than 62.5% (262/419) in the restrictive strategy (absolute risk difference, 31.92%; 97.5% confidence interval [CI]: 24.42-39.42%; odds ratio, 3.78%; 97.5% CI: 2.70-5.30%; P <0.001), and 89.8% (345/384) in the liberal strategy (absolute risk difference, 59.24%; 97.5% CI: 52.91-65.57%; odds ratio, 20.06; 97.5% CI: 12.74-31.57; P <0.001). No statistically significant differences were found in the composite of in-hospital complications and mortality by day 30 among the three strategies.
CONCLUSION:
The individualized red-cell transfusion strategy using the West-China-Liu's Score reduced red-cell transfusion without increasing in-hospital complications and mortality by day 30 when compared with restrictive and liberal strategies in elective non-cardiac surgeries.
TRIAL REGISTRATION
ClinicalTrials.gov, NCT01597232.
Humans
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Adult
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Postoperative Complications
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Erythrocyte Transfusion/adverse effects*
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Blood Transfusion
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Hospitals
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Hemoglobins/analysis*
6.Clinical guideline for diagnosis and treatment of adult ankylosing spondylitis combined with thoracolumbar fracture (version 2023)
Jianan ZHANG ; Bohua CHEN ; Tongwei CHU ; Yirui CHEN ; Jian DONG ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Zhong GUAN ; Yong HAI ; Lijun HE ; Yuan HE ; Dianming JIANG ; Jianyuan JIANG ; Bin LIN ; Bin LIU ; Baoge LIU ; Dechun LI ; Fang LI ; Feng LI ; Guohua LYU ; Li LI ; Qi LIAO ; Weishi LI ; Xiaoguang LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Wei MEI ; Yong QIU ; Limin RONG ; Yong SHEN ; Huiyong SHEN ; Jun SHU ; Yueming SONG ; Honghui SUN ; Tiansheng SUN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Yongming XI ; Hong XIA ; Jinglong YAN ; Liang YAN ; Wen YUAN ; Gang ZHAO ; Jie ZHAO ; Jianguo ZHANG ; Xiaozhong ZHOU ; Yue ZHU ; Yingze ZHANG ; Dingjun HAO ; Baorong HE
Chinese Journal of Trauma 2023;39(3):204-213
Ankylosing spondylitis (AS) combined with spinal fractures with thoracic and lumbar fracture as the most common type shows characteristics of unstable fracture, high incidence of nerve injury, high mortality and high disability rate. The diagnosis may be missed because it is mostly caused by low-energy injury, when spinal rigidity and osteoporosis have a great impact on the accuracy of imaging examination. At the same time, the treatment choices are controversial, with no relevant specifications. Non-operative treatments can easily lead to bone nonunion, pseudoarthrosis and delayed nerve injury, while surgeries may be failed due to internal fixation failure. At present, there are no evidence-based guidelines for the diagnosis and treatment of AS combined with thoracic and lumbar fracture. In this context, the Spinal Trauma Academic Group of Orthopedics Branch of Chinese Medical Doctor Association organized experts to formulate the Clinical guideline for the diagnosis and treatment of adult ankylosing spondylitis combined with thoracolumbar fracture ( version 2023) by following the principles of evidence-based medicine and systematically review related literatures. Ten recommendations on the diagnosis, imaging evaluation, classification and treatment of AS combined with thoracic and lumbar fracture were put forward, aiming to standardize the clinical diagnosis and treatment of such disorder.
7.Evidence-based guideline for clinical diagnosis and treatment of acute combination fractures of the atlas and axis in adults (version 2023)
Yukun DU ; Dageng HUANG ; Wei TIAN ; Dingjun HAO ; Yongming XI ; Baorong HE ; Bohua CHEN ; Tongwei CHU ; Jian DONG ; Jun DONG ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Zhong GUAN ; Yong HAI ; Lijun HE ; Yuan HE ; Dianming JIANG ; Jianyuan JIANG ; Weiqing KONG ; Bin LIN ; Bin LIU ; Baoge LIU ; Chunde LI ; Fang LI ; Feng LI ; Guohua LYU ; Li LI ; Qi LIAO ; Weishi LI ; Xiaoguang LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Fei LUO ; Jianyi LI ; Yong QIU ; Limin RONG ; Yong SHEN ; Huiyong SHEN ; Jun SHU ; Yueming SONG ; Tiansheng SUN ; Jiang SHAO ; Jiwei TIAN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Xiangyang WANG ; Hong XIA ; Jinglong YAN ; Liang YAN ; Wen YUAN ; Jie ZHAO ; Jianguo ZHANG ; Yue ZHU ; Xuhui ZHOU ; Mingwei ZHAO
Chinese Journal of Trauma 2023;39(4):299-308
The acute combination fractures of the atlas and axis in adults have a higher rate of neurological injury and early death compared with atlas or axial fractures alone. Currently, the diagnosis and treatment choices of acute combination fractures of the atlas and axis in adults are controversial because of the lack of standards for implementation. Non-operative treatments have a high incidence of bone nonunion and complications, while surgeries may easily lead to the injury of the vertebral artery, spinal cord and nerve root. At present, there are no evidence-based Chinese guidelines for the diagnosis and treatment of acute combination fractures of the atlas and axis in adults. To provide orthopedic surgeons with the most up-to-date and effective information in treating acute combination fractures of the atlas and axis in adults, the Spinal Trauma Group of Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field of spinal trauma to develop the Evidence-based guideline for clinical diagnosis and treatment of acute combination fractures of the atlas and axis in adults ( version 2023) by referring to the "Management of acute combination fractures of the atlas and axis in adults" published by American Association of Neurological Surgeons (AANS)/Congress of Neurological Surgeons (CNS) in 2013 and the relevant Chinese and English literatures. Ten recommendations were made concerning the radiological diagnosis, stability judgment, treatment rules, treatment options and complications based on medical evidence, aiming to provide a reference for the diagnosis and treatment of acute combination fractures of the atlas and axis in adults.
8.Evaluation of left atrial function and predictive value of risk stratification in patients with hypertensive disorder of pregnancy by four-dimensional automatic left atrial quantitative analysis
Ting YE ; Limin ZHU ; Haohui ZHU ; Jinwen CHEN ; Yang CAO ; Jianjun YUAN
Chinese Journal of Ultrasonography 2023;32(3):234-241
Objective:To investigate the change of left atrial volume and function in patients with hypertensive disorders of pregnancy (HDPs) by four-dimensional automatic left atrial quantitative analysis (4D LAQ) and analyze the predictive value of risk stratification.Methods:A total of 60 patients diagnosed with hypertensive disorder of pregnancy in Henan Provincial People′s Hospital from March to December 2021 were randomly enrolled, which were divided into gestational hypertension group (low risk group, n=30) and preeclampsia group (medium and high risk group, n=30) according to the disease development and risk stratification method reported in the literature; another 30 healthy pregnant women matched for age, gestational weeks and body mass index were selected as the control group. Left atrial anteroposterior diameter (LAd), interventricular septum thickness (IVSd), left ventricular end diastolic diameter (LVd), left ventricular ejection fraction (LVEF), left ventricular myocardial mass index (LVMI), peak early diastolic (E) and late diastolic (A) velocities of mitral inflow, and e′ values on the septal and lateral mitral annulus sides were routinely measured to calculate E/A and E/e′ values. Left atrial volume and strain parameters were obtained using 4D LAQ technique, including left atrial minimum volume (LAVmin), left atrial maximum volume (LAVmax), left atrial presystolic volume (LAVpreA), left atrial maximum volume index (LAVImax), left atrial inflation index (LAEI), left atrial stroke volume (LAEV), left atrial fraction (LAEF), longitudinal strain of left atrial reserve, conduit and systolic period (LASr, LAScd, LASct), circumferential strain of left atrial reserve, conduit and systolic period(LASr-c, LAScd-c, LASct-c). The differences among the three groups were compared. Multiple Logistics regression analysis was used to obtain the relevant indicators of risk stratification of HDPs and ROC curves were used for assessment. Results:Compared with the control group, E/e′, LAVmin, LAVpreA, LAScd, and LAScd-c increased, and LAEI, LAEF, LApEF, LASr, and LASr-c decreased in the gestational hypertension group (all P<0.05). Compared with the control group and gestational hypertension group, LAd, IVSd, LVd, LVMI, E/e′ LAVmin, LAVmax, LAVpreA, LAVImax, LAEV, LAScd, and LAScd-c increased, and LVEF, LAEF, LAEI, LApEF, LASr, and LASr-c decreased in the preeclamptic group, and the differences were statistically significant (all P<0.05). The results of multiple Logistics regression showed that LAVmax, LAScd-c and LASr were the indicators relevant to risk stratification of HDPs(β=0.344, 0.216 and -0.249, respectively, all P<0.05). ROC analysis showed when the cut-off value of left atrial strain parameter LASr was 30.5%, the AUC, sensitivity, and specificity were 0.725, 0.58, 0.90, respectively; when the cut-off value of LAVmax was 44.5 ml, the AUC, sensitivity, and specificity were 0.662, 0.80, and 0.56, respectively; and when the cut-off value of LAScd-c was -17.5%, the AUC, sensitivity, and specificity were 0.706, 0.56, and 0.78, respectively. Conclusions:Left atrial remodeling occured in pregnant women with hypertensive disorders, their reserve and conduit function were impaired, and aggravated with the progress of the disease. The four-dimensional parameters LASr, LAVmax, and LAScd-c were relevant indicators for risk stratification of HDPs. In predicting the severity of HDPs, LASr has high diagnostic value and good specificity; LAVmax and LAScd-c can be considered as supplementary parameters to predict the risk stratification of HDPs.
9.Preliminary exploration of endovascular treatment for cerebral infarction caused by middle cerebral artery stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery
Ziyao WANG ; Sen WEI ; Xiaojie FU ; Chao LIU ; Limin LEI ; Yongjie YUAN ; Haowen XU ; Xinbin GUO ; Sheng GUAN
Chinese Journal of Neurology 2023;56(5):513-520
Objective:To evaluate the necessity, safety and efficacy of endovascular treatment for cerebral infarction caused by middle cerebral artery (MCA) stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery.Methods:The clinical and surgical data of patients with MCA atherosclerotic disease who underwent endovascular treatment in the First Affiliated Hospital of Zhengzhou University from January 2014 to October 2021 were retrospectively analyzed. A total of 6 patients with cerebral infarction caused by MCA stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery were selected. The preoperative and postoperative clinical imaging characteristics, perioperative complications and follow-up of these 6 patients were summarized and evaluated.Results:After the endovascular treatment, the imaging of the lenticulostriate artery in all the 6 patients was clearer than that before the operation, and the number of main trunks of the lenticulostriate artery shown by imaging in 2 patients was more than that before operation. The computer tomography perfusion of 6 patients after the endovascular treatment showed that perfusion in the supply area of the lenticulostriate artery was significantly improved compared with pre-operation. No stroke, transient ischemic attack (TIA) and death occurred during the perioperative period. The time of clinical follow-up was 360 (322, 495) days, and there were no stroke, TIA or death occurring in the corresponding artery. All the 6 patients underwent imaging follow-up, of which 3 patients underwent digital subtraction angiography and 3 underwent CT angiography. The lumen of the target vessels showed patency in all patients.Conclusions:With rigorous imaging evaluation, endovascular treatment may be safe and effective for cerebral infarction caused by MCA stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery.
10.Analysis of clinical phenotypes and genetic variants in two children with sporadic cleidocranial dysplasia.
Limin YUAN ; Ling LIU ; Shanshan ZHAI ; Jing LI
Chinese Journal of Medical Genetics 2023;40(3):332-336
OBJECTIVE:
To explore the clinical phenotypes and genetic diagnosis of 2 sporadic cases for cleidocranial dysplasia.
METHODS:
The clinical data of two cases of CCD admitted to the Third Affiliated Hospital of Zhengzhou University on December 16, 2021 and December 9, 2021 were analyzed retrospectively, and the whole exome sequencing (WES), chromosome microarray analysis and copy number variation sequencing were performed.
RESULTS:
The main ultrasonographic findings of the fetus had included poorly calcified skull bones, budging of parieto-occipital area, compression and deformation of skull, and loss of nasal bone. The infant's clinical phenotypes included delayed closure of anterior fontanelle, recurrent respiratory tract infection, growth retardation, and clavicular hypoplasia. By WES analysis, the fetus was found to harbor a heterozygous c.911_914delinsTTT variant of the RUNX2 gene, whilst the infant was found to harbor a heterozygous c.1008delT variant of the RUNX2 gene. Both variants were verified by Sanger sequencing to have occurred de novo.
CONCLUSION
For sporadic cases featuring cleidocranial dysplasia, prenatal ultrasonography is particularly important. Hypoplastic clavicle, skull calcification and nasal bone absence are the main features. Diagnosis should also be suspected for infants featuring growth retardation, recurrent respiratory tract infections and clavicular dysplasia. The identification of the c.911_914delinsTTT and c.1008delT variants of the RUNX2 gene has facilitated genetic counseling and prenatal diagnosis, and also expanded the mutational spectrum of the RUNX2 gene.
Female
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Humans
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Pregnancy
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Cleidocranial Dysplasia/genetics*
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Core Binding Factor Alpha 1 Subunit
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DNA Copy Number Variations
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Growth Disorders
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Retrospective Studies

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