1.Clinical study of intracranial hypotension targeted body posture combined with pharmacotherapy in the treatment of chronic subdural hematoma
Jiayu CHEN ; Zhe WANG ; Di ZANG ; Ruizhe ZHENG ; Xiangru YE ; Zengxin QI ; Zeyu XU ; Zhiqiang LI ; Chengfeng SUN ; Liangjun SHEN ; Luoping SHENG ; Fulin XU ; Ruyong YE ; Kaiyu ZHOU ; Weijun TANG ; Yueqing HU ; Dapeng SHI ; Yuquan WANG ; Xizhen WU ; Ying WANG ; Qilin ZHANG ; Feili LIU ; Guo YU ; Yiping LU ; Yirui SUN ; Ning ZHANG ; Feng HUANG ; Xialong GU ; Han ZHANG ; Jian DING ; Yongyan BI ; Haolan DU ; Jing ZHANG ; Hailong JI ; Ding DING ; Wei ZHANG ; Xuehai WU
Chinese Journal of Surgery 2025;63(3):212-218
Objective:To compare the efficacy of body posture combined with pharmacotherapy and pharmacotherapy alone in the treatment of chronic subdural hematoma(CSDH).Methods:Firstly, retrospective case series study was conducted. Thirty cases of CSDH that had received body posture combined with pharmacotherapy at Department of Neurosurgery, Huashan Hospital Affiliated to Fudan University from December 2016 to October 2020 were studied retrospectively. Twenty-seven patients were male, and 3 patients were female. The age of patients ( M(IQR)) was 66(16) years (range:28 to 84). Nineteen patients had unilateral hematoma, and 11 patients had bilateral hematoma. All patients received pharmacotherapy and body posture therapy that was to raise their lower limbs 20 to 30 cm with leg lift pad and get abdominal compressed with customized abdominal belt in supine position. Patients were required to maintain the body posture as much as possible, with the maximum to 16 to 18 hours per day. Patients with unilateral hematoma should tilt the head to the affected side and avoid tilting it to the opposite side. For patients with bilateral hematoma, there was no need for head lateralization. Patient were treated with oral dexamethasone and atorvastatin simultaneously. The preliminary efficacy of body posture combined with pharmacotherapy was determined by hematoma improvement rate which was analyzed by Clopper-Pearson method. Then, the multi-center, prospective, randomized controlled trial had carried out in 9 medical centers from August 2020 to November 2021. The stratified block randomization method was adopted. Patients were randomized in a ratio of 1∶1 to either receive pharmacotherapy alone(the control group) or body posture combined with pharmacotherapy(the experiment group) for 3 months and followed up for 6 months. Effective treatment was defined as complete absorption of hematoma, or the hematoma volume decreased by more than 10 ml and Markwalder grading scale score had improved by more than 1 point compared to the baseline. The efficacy rate and surgery conversion rate at 3 months and recurrence at 6 months were observed. Comparison between groups was performed with paired sample t test, Mann-Whitney U test, χ2 test, corrected χ2 test, or Fisher exact probability method. Logistic regression was used to compare the effective rate and operation rate between the two groups. Results:In the respective study, 30 patients completed follow-up 13 to 353 days after treatment. At the last follow-up, the incidence of almost complete absorption or significantly absorption of hematoma (hematoma volume was significantly reduced accompanied by symptom improvement) was 93.3%. The 95% CI for the incidence that analyzed by the Clopper-Pearson method was 77.9% to 99.2%. One hundred and six patients were enrolled in the multicenter study. Fifty-five patients underwent body posture combined with pharmacotherapy. The age was 74(17) years (range:26 to 92). Thirty-nine patients were males and 16 were females. Fifty-one patients underwent pharmacotherapy alone. The age was 69(12) years (range:48 to 84). Thirty-seven patients were males and 14 were females. The length of body posture recorded in diary card was (15.7±2.3) hours(range:7.6 to 19.3 hours). The efficacy rate in the body posture combined with pharmacotherapy group and pharmacotherapy alone group were 83.6% (46/55) and 56.9% (29/51), respectively at 3 months. The result of the logistic regression analysis showed that the efficacy of body posture combined with pharmacotherapy group was better than that of pharmacotherapy alone group ( OR=3.88,95% CI:1.57 to 9.58, P=0.003). Surgery rate in the body posture combined with pharmacotherapy group and pharmacotherapy alone group were 5.5% (3/55) and 21.6% (11/51) respectively. The result of Logistic regression showed that the pharmacotherapy alone group was more likely to be converted to surgery ( OR=0.21,95% CI:0.05 to 0.80, P=0.023). At the 6 months, no recurrence of cases was found in the body posture combined with pharmacotherapy group. However, the recurrence rate of pharmacotherapy alone group was 6.3% (3/48), there was no significant difference between the two groups ( P>0.05). Conclusion:The effect of body posture combined with pharmacotherapy for chronic subdural hematoma is better than that of pharmacotherapy alone.
2.A study of resting-state functional MRI degree centrality in patients with benign paroxysmal positional vertigo
Yu HAN ; Xiaolian XU ; Shanshan GAO ; Zihao MU ; Zhaoshun WANG ; Jingang LIU ; Xizhen WANG ; Yue GUAN
Journal of Practical Radiology 2025;41(11):1765-1768
Objective To investigate the abnormal changes characteristics of the degree centrality(DC)of the brain functional network in patients with benign paroxysmal positional vertigo(BPPV)in the classical frequency band(0.010-0.080 Hz),the slow-4 frequency band(0.027-0.073 Hz),and the slow-5 frequency band(0.010-0.027 Hz).Methods Twenty patients with BPPV(BPPV group)and 14 healthy controls(HC)(HC group)were selected.Resting-state functional magnetic resonance imaging(rs-fMRI)scans were performed,and the clinical data were analyzed.The DC method was used to analyze the changes of centrality of resting state network in patients with BPPV.Results Compared with the HC group,the BPPV group showed an increase in DC in the left caudate nucleus in the classical frequency band(P<0.05),and a decrease in DC in the right auxiliary motor region in the classical frequency band(P<0.05);within the slow-4 frequency band,no significant differences were observed in brain regions(P>0.05);within the slow-5 frequency band,the BPPV group showed an increase in DC in the left thalamus(P<0.05),while the left anterior cingulate and paracingulate gyrus showed a decrease in DC(P<0.05).Conclusion Patients with BPPV have spontaneous activity disorders in multiple brain regions at resting states,and these changes show frequency band specificity.
3.Advances in acupuncture interventions for depression caused by chronic pain
Fangyi HOU ; Xizhen ZHANG ; Zifa LI ; Hao ZHANG ; Minghui HU ; Lidan WU ; Xiwen GENG ; Xinyu WANG ; Sheng WEI
Acta Laboratorium Animalis Scientia Sinica 2025;33(7):1064-1072
Chronic pain causes physical suffering and can have major psychological impacts in patients.Chronic pain can induce depressive disorder,and clinical studies have consistently shown that chronic pain and depression frequently co-occur,suggesting the possibility of shared pathogenic mechanisms underlying these conditions.Acupuncture,as an alternative therapy,has been widely used for analgesia and to treat depression,with demonstrated clinical efficacy.The therapeutic mechanism of acupuncture is related to neural and endocrine regulation.This review considers the mechanism of chronic pain accompanied by depression,in relation to the brain regions and neural circuits affected by acupuncture treatment.This review provides a new approach for the treatment of depression caused by chronic pain.
4.A study of resting-state functional MRI degree centrality in patients with benign paroxysmal positional vertigo
Yu HAN ; Xiaolian XU ; Shanshan GAO ; Zihao MU ; Zhaoshun WANG ; Jingang LIU ; Xizhen WANG ; Yue GUAN
Journal of Practical Radiology 2025;41(11):1765-1768
Objective To investigate the abnormal changes characteristics of the degree centrality(DC)of the brain functional network in patients with benign paroxysmal positional vertigo(BPPV)in the classical frequency band(0.010-0.080 Hz),the slow-4 frequency band(0.027-0.073 Hz),and the slow-5 frequency band(0.010-0.027 Hz).Methods Twenty patients with BPPV(BPPV group)and 14 healthy controls(HC)(HC group)were selected.Resting-state functional magnetic resonance imaging(rs-fMRI)scans were performed,and the clinical data were analyzed.The DC method was used to analyze the changes of centrality of resting state network in patients with BPPV.Results Compared with the HC group,the BPPV group showed an increase in DC in the left caudate nucleus in the classical frequency band(P<0.05),and a decrease in DC in the right auxiliary motor region in the classical frequency band(P<0.05);within the slow-4 frequency band,no significant differences were observed in brain regions(P>0.05);within the slow-5 frequency band,the BPPV group showed an increase in DC in the left thalamus(P<0.05),while the left anterior cingulate and paracingulate gyrus showed a decrease in DC(P<0.05).Conclusion Patients with BPPV have spontaneous activity disorders in multiple brain regions at resting states,and these changes show frequency band specificity.
5.Advances in acupuncture interventions for depression caused by chronic pain
Fangyi HOU ; Xizhen ZHANG ; Zifa LI ; Hao ZHANG ; Minghui HU ; Lidan WU ; Xiwen GENG ; Xinyu WANG ; Sheng WEI
Acta Laboratorium Animalis Scientia Sinica 2025;33(7):1064-1072
Chronic pain causes physical suffering and can have major psychological impacts in patients.Chronic pain can induce depressive disorder,and clinical studies have consistently shown that chronic pain and depression frequently co-occur,suggesting the possibility of shared pathogenic mechanisms underlying these conditions.Acupuncture,as an alternative therapy,has been widely used for analgesia and to treat depression,with demonstrated clinical efficacy.The therapeutic mechanism of acupuncture is related to neural and endocrine regulation.This review considers the mechanism of chronic pain accompanied by depression,in relation to the brain regions and neural circuits affected by acupuncture treatment.This review provides a new approach for the treatment of depression caused by chronic pain.
6.Clinical study of intracranial hypotension targeted body posture combined with pharmacotherapy in the treatment of chronic subdural hematoma
Jiayu CHEN ; Zhe WANG ; Di ZANG ; Ruizhe ZHENG ; Xiangru YE ; Zengxin QI ; Zeyu XU ; Zhiqiang LI ; Chengfeng SUN ; Liangjun SHEN ; Luoping SHENG ; Fulin XU ; Ruyong YE ; Kaiyu ZHOU ; Weijun TANG ; Yueqing HU ; Dapeng SHI ; Yuquan WANG ; Xizhen WU ; Ying WANG ; Qilin ZHANG ; Feili LIU ; Guo YU ; Yiping LU ; Yirui SUN ; Ning ZHANG ; Feng HUANG ; Xialong GU ; Han ZHANG ; Jian DING ; Yongyan BI ; Haolan DU ; Jing ZHANG ; Hailong JI ; Ding DING ; Wei ZHANG ; Xuehai WU
Chinese Journal of Surgery 2025;63(3):212-218
Objective:To compare the efficacy of body posture combined with pharmacotherapy and pharmacotherapy alone in the treatment of chronic subdural hematoma(CSDH).Methods:Firstly, retrospective case series study was conducted. Thirty cases of CSDH that had received body posture combined with pharmacotherapy at Department of Neurosurgery, Huashan Hospital Affiliated to Fudan University from December 2016 to October 2020 were studied retrospectively. Twenty-seven patients were male, and 3 patients were female. The age of patients ( M(IQR)) was 66(16) years (range:28 to 84). Nineteen patients had unilateral hematoma, and 11 patients had bilateral hematoma. All patients received pharmacotherapy and body posture therapy that was to raise their lower limbs 20 to 30 cm with leg lift pad and get abdominal compressed with customized abdominal belt in supine position. Patients were required to maintain the body posture as much as possible, with the maximum to 16 to 18 hours per day. Patients with unilateral hematoma should tilt the head to the affected side and avoid tilting it to the opposite side. For patients with bilateral hematoma, there was no need for head lateralization. Patient were treated with oral dexamethasone and atorvastatin simultaneously. The preliminary efficacy of body posture combined with pharmacotherapy was determined by hematoma improvement rate which was analyzed by Clopper-Pearson method. Then, the multi-center, prospective, randomized controlled trial had carried out in 9 medical centers from August 2020 to November 2021. The stratified block randomization method was adopted. Patients were randomized in a ratio of 1∶1 to either receive pharmacotherapy alone(the control group) or body posture combined with pharmacotherapy(the experiment group) for 3 months and followed up for 6 months. Effective treatment was defined as complete absorption of hematoma, or the hematoma volume decreased by more than 10 ml and Markwalder grading scale score had improved by more than 1 point compared to the baseline. The efficacy rate and surgery conversion rate at 3 months and recurrence at 6 months were observed. Comparison between groups was performed with paired sample t test, Mann-Whitney U test, χ2 test, corrected χ2 test, or Fisher exact probability method. Logistic regression was used to compare the effective rate and operation rate between the two groups. Results:In the respective study, 30 patients completed follow-up 13 to 353 days after treatment. At the last follow-up, the incidence of almost complete absorption or significantly absorption of hematoma (hematoma volume was significantly reduced accompanied by symptom improvement) was 93.3%. The 95% CI for the incidence that analyzed by the Clopper-Pearson method was 77.9% to 99.2%. One hundred and six patients were enrolled in the multicenter study. Fifty-five patients underwent body posture combined with pharmacotherapy. The age was 74(17) years (range:26 to 92). Thirty-nine patients were males and 16 were females. Fifty-one patients underwent pharmacotherapy alone. The age was 69(12) years (range:48 to 84). Thirty-seven patients were males and 14 were females. The length of body posture recorded in diary card was (15.7±2.3) hours(range:7.6 to 19.3 hours). The efficacy rate in the body posture combined with pharmacotherapy group and pharmacotherapy alone group were 83.6% (46/55) and 56.9% (29/51), respectively at 3 months. The result of the logistic regression analysis showed that the efficacy of body posture combined with pharmacotherapy group was better than that of pharmacotherapy alone group ( OR=3.88,95% CI:1.57 to 9.58, P=0.003). Surgery rate in the body posture combined with pharmacotherapy group and pharmacotherapy alone group were 5.5% (3/55) and 21.6% (11/51) respectively. The result of Logistic regression showed that the pharmacotherapy alone group was more likely to be converted to surgery ( OR=0.21,95% CI:0.05 to 0.80, P=0.023). At the 6 months, no recurrence of cases was found in the body posture combined with pharmacotherapy group. However, the recurrence rate of pharmacotherapy alone group was 6.3% (3/48), there was no significant difference between the two groups ( P>0.05). Conclusion:The effect of body posture combined with pharmacotherapy for chronic subdural hematoma is better than that of pharmacotherapy alone.
7.Effect of blood purification combined with conventional methods in treating heat stroke
Xizhen WANG ; Shan ZHANG ; Bin ZHANG
Journal of Clinical Medicine in Practice 2024;28(3):18-22
Objective To observe the clinical efficacy of continuous blood purification (CBP) combined with conventional methods for the treatment of heat stroke (HS). Methods Retrospective analysis was performed for clinical data of 38 patients with HS, including 6 cases in death group, 16 cases in observation group, and 16 cases in control group. The control group received conventional treatment, while the observation group was given early CBP combined with conventional treatment. Changes in vital signs such as blood pressure, respiration, heart rate, body temperature at admission and after treatment, and changes in inflammatory and biochemical indicators at 0, 24, 48 and 72 h were compared among the three groups. Results Compared with the indicators at admission, the respiratory rate, heart rate, and body temperature decreased in both the observation and control groups after treatment (
8.Risk factors and their early warning effectiveness for the occurrence of early neurological deterioration in patients with moderate traumatic brain injury
Ruhai WANG ; Shen WANG ; Min ZHANG ; Chao HAN ; Qiang YU ; Haicheng HU ; Xizhen LI
Chinese Journal of Trauma 2023;39(11):1006-1013
Objective:To investigate the risk factors and their early warning effectiveness for the occurrence of early neurological deterioration (END) in patients with moderate traumatic brain injury (modTBI).Methods:A retrospective cohort study was conducted to analyze the clinical data of 265 patients with modTBI admitted to the Second Affiliated Hospital of Fuyang Normal University from January 2018 to April 2023. There were 165 males and 100 females, with age range of 20-91 years [(59.5±14.4)years]. The patients were divided into END group ( n=46) (17.4%) and non-END group ( n=219) (82.6%) according to whether the Glasgow Coma Score (GCS) decreased by 2 points or more within 72 hours after injury. Data of the two groups were recorded, including gender, age, basic diseases (hypertension and diabetes), cause of injury (traffic injuries, falls, etc), vomiting before admission, admission GCS, first CT scan time, epilepsy, brain contusion, subarachnoid hemorrhage, types of intracranial hematoma (epidural, subdural, and intracerebral hematoma), types of fracture (skull base fracture and skull fracture), laboratory indicators [platelet count (PLT), blood potassium level, serum total calcium concentration, thrombin time (TT), prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (APTT), level of fibrinogen (FIB), and level of D-dimer. Correlations between above-mentioned indicators and occurrence of END among modTBI patients were assessed and the independent risk factors were revealed by univariate and multivariate binary Logistic regression analysis. Receiver operating characteristic (ROC) curve and area under curve (AUC) were used to evaluate the early-warning effectiveness of each risk factor for END. Results:Univariate analysis showed that admission GCS, first CT scan time, epidural hematoma, subdural hematoma, intracerebral hematoma, serum potassium level, FIB and D-dimer were statistically correlated with occurrence of END among modTBI patients ( P<0.05 or 0.01). Multivariate binary Logistic regression analysis showed that admission GCS≤10 points ( OR=0.53, 95% CI 0.34, 0.84, P<0.01), first CT scan time≤2.0 hours ( OR=0.58, 95% CI 0.37, 0.92, P<0.05), epidural hematoma ( OR=0.26, 95% CI 0.10, 0.69, P<0.05), intracerebral hematoma ( OR=0.14, 95% CI 0.04, 0.44, P<0.01), level of FIB≤2.3 g/L ( OR=0.34, 95% CI 0.18, 0.64, P<0.01), level of D-dimer>10.4 mg/L ( OR=1.04, 95% CI 1.02, 1.07, P<0.01) were independent risk factors for END among modTBI patients. ROC curve analysis showed that the first CT scan time had relatively higher early warning value (AUC=0.79, 95% CI 0.74, 0.84), level of D-dimer (AUC=0.75, 95% CI 0.70, 0.80) and level of FIB (AUC=0.70, 95% CI 0.65, 0.76) had moderate early warning value, which was higher than that of admission GCS (AUC=0.62, 95% CI 0.56, 0.68), intracerebral hematoma (AUC=0.62, 95% CI 0.56, 0.68) and epidural hematoma (AUC=0.60, 95% CI 0.54, 0.66). The combination of the risk factors revealed superior early warning efficiency for END (AUC=0.90, 95% CI 0.85, 0.93). Conclusions:Admission GCS≤10 points, first CT scan time≤2.0 hours, epidural hematoma, intracerebral hematoma, level of FIB≤2.3 g/L and level of D-dimer>10.4 mg/L are independent risk factors for END among modTBI patients. The early warning value of the first CT scan is the highest, followed by D-dimer and FIB, and the early warning effectiveness of admission GCS, intracerebral hematoma and epidural hematoma is ordinary.The combination of the above risk factors has better early warning efficiency for occurrence of END among modTBI patients.
9.Correlation between neutrophil/lymphocyte ratio combined with low-density lipoprotein cholesterol/high-density lipoprotein cholesterol ratio and severity of coronary artery disease in patients with acute coronary syndrome
Shuaishuai YUAN ; Tian PU ; Zheng WANG ; Lingling LI ; Po GAO ; Lianfa ZHANG ; Yihao MA ; Qinshun QI ; Xizhen FAN
Chinese Critical Care Medicine 2022;34(3):274-279
Objective:To investigate the correlation between neutrophil/lymphocyte ratio (NLR) combined with low-density lipoprotein cholesterol/high-density lipoprotein cholesterol ratio (LDL-C/HDL-C) and severity of coronary lesions in patients with acute coronary syndrome (ACS).Methods:Patients who were diagnosed with ACS due to chest pain and received emergency coronary angiography in the First Affiliated Hospital of University of Science and Technology of China and the Affiliated Hospital of Anhui Medical University from January 2017 to June 2020 were enrolled in the final analysis. The data of gender, age, body mass index (BMI), past history, emergency blood routine indicators [neutrophil (NEU), lymphocyte (LYM), monocyte (MON), eosinophil (EOS), basophil (BAS), red blood cell (RBC), mean corpuscular volume (MCV), blood red cell distribution width (RDW), mean platelet volume (MPV), platelet volume distribution width (PDW)], blood lipid index [triglyceride (TG), total cholesterol (TC), HDL-C, LDL-C, very low-density lipoprotein cholesterol (VLDL-C)], and coronary angiography were collected. The results of coronary angiography were evaluated by the Gensini score. According to the Gensini score, the patients were divided into the control group (Gensini score = 0, 55 cases) and the study group (Gensini score > 0, 889 cases), and then the patients in the study group were divided into the low-Gensini-score group (Gensini score < 66, 419 cases) and the high-Gensini-score group (Gensini score ≥ 66, 470 cases). The differences in the general baseline data of the four groups were compared, and the correlation between the statistically significant data and the Gensini score was linearly analyzed, and then the combined diagnostic factors (NLR combined with LDL-C/HDL-C ratio) were obtained by Logistic regression analysis. The receiver operator characteristic curve (ROC curve) was used to evaluate the predictive value of NLR combined with LDL-C/HDL-C ratio in predicting the severity of coronary artery lesions in patients with ACS. Finally, multivariate linear regression analysis was used to establish the predictive model between NLR combined with LDL-C/HDL-C ratio and Gensini score.Results:A total of 944 patients were finally included. The differences in gender, age, BMI, hypertension, diabetes, smoking history, NEU, LYM, MON, EOS, RDW, TC, HDL-C, LDL-C, NLR, LDL-C/HDL-C ratio between the control group and the study group were statistically significant. The differences in BMI, hypertension, diabetes, smoking history, NEU, LYM, MON, EOS, TG, TC, HDL-C, LDL-C, NLR and LDL-C/HDL-C ratio between the low-Gensini-score group and the high-Gensini-score group were statistically significant. Linear regression analysis showed that compared with other indicators, the correlation between NLR, LDL-C/HDL-C ratio and Gensini score was stronger in the study group ( r values were 0.634 and 0.663, respectively, both P < 0.05). Binary Logistic regression analysis of the indicators related to Gensini score showed that NEU, LYM, HDL-C and LDL-C were independent risk factors for coronary stenosis in patients with ACS [odds ratio ( OR) were 0.189, 10.309, 13.993, 0.251, 95% confidence intervals (95% CI) were 0.114-0.313, 4.679-22.714, 3.402-57.559, 0.121-0.519, respectively, all P < 0.05]. ROC curve analysis showed that NLR combined with LDL-C/HDL-C ratio had higher predictive value in predicting the severity of coronary lesions in ACS patients [area under the ROC curve (AUC) was 0.952, 95% CI was 0.93-0.969], when the cutoff value was -3.152, the sensitivity was 98.20%, and the specificity was 81.60%. According to the results of multivariate linear regression analysis, the prediction model between NLR, LDL-C/HDL-C ratio and Gensini score was established, and the formula was Gensini score = -7.772+15.675×LDL-C/HDL-C ratio+8.288×NLR ( R2 = 0.862). Conclusion:There is a significant correlation between emergency NLR combined with LDL-C/HDL-C ratio and Gensini score in patients with ACS at admission, which has a certain predictive value for the severity of coronary artery stenosis in patients with ACS, and can be used as a predictor for evaluating the severity of coronary artery disease.
10.Genetic analysis of a Chinese family with cataract-microcornea syndrome
Daren ZHANG ; Lan LU ; Jie ZENG ; Danli LI ; Yun WANG ; Xizhen WANG ; Li HUANG ; Ning FAN ; Xuyang LIU
Chinese Journal of Experimental Ophthalmology 2022;40(10):955-959
Objective:To analyze the clinical and molecular genetic characteristics of a Chinese family with congenital cataract-microcornea syndrome.Methods:The method of pedigree investigation was adopted.A Chinese Han family with congenital cataract-microcornea syndrome was recruited in Xiamen Eye Center of Xiamen University.All the family members received detailed ophthalmologic examination including the best corrected visual acuity, intraocular pressure measurement by handheld applanation tonometry, slit lamp biomicroscopy, color fundus photography, B-scan ultrasonography, corneal diameter, anterior segment optical coherence tomography, ultrasound biomicroscopy, corneal endoscopy, and corneal topography.Genomic DNA was extracted from peripheral venous blood from some patients and unaffected family members.Targeted high-throughput DNA sequencing was performed on the proband.The sequencing chip contained 188 known pathogenic genes related to lens abnormalities.Suspected pathogenic genes were verified by Sanger sequencing in phenotypically normal family members to identify the co-segregation and the disease-causing gene.Bioinformatics analysis was performed to analyze the pathogenicity of variants by REVEL.Conserved protein domains were analyzed by InterPro.Physicochemical property of the mutant protein was analyzed by ProtParam.The deleteriousness of the protein was predicted by PolyPhen-2.Homology of the variants in pathogenic gene was analyzed by NCBI website to compare the conservation among various species.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.XMYKZX-LW-2009-003).Written informed consent was obtained from each subject prior to entering the study cohort.Results:There were 39 members of 4 generations in this family including 11 patients with an autosomal dominant inheritance pattern.Clinical features of the patients included congenital cataract and microcornea.No obvious abnormality was found in ophthalmic and general examination.A heterozygous mutation c. 61C>T in the CRYAA gene was found, resulting in the mutation of the amino acid from arginine to tryptophan (p.Arg21Trp) at position 21, consistent with co-segregation.The number of cationic cluster in the mutant protein decreased, and the hydrophilicity and stability were reduced.The variant was predicted to be deleterious and was highly conserved in multiple species. Conclusions:A novel heterozygous mutation c.61C>T p. Arg21Trp in CRYAA gene is considered as the causal gene of this family.It is the first time this variant has been reported in China.


Result Analysis
Print
Save
E-mail