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In recent years,the morbidity and mortality of hepatocellular carcinoma(HCC)have been increasing worldwide,and the treatment strategies for HCC are still insufficient,which highlights the importance of exploring the pathogenesis and progression of HCC.Transient receptor potential(TRP)pathway is an important non-selective cation pathway,which is closely related to inflammatory response and sensory conduction.At present,a number of studies have shown that TRP pathway is also involved in the occurrence and development of HCC,inducing HCC invasion and migration.However,the overall potential mechanism and possible signal transduction pathways of TRP pathway in HCC remain unclear.Therefore,this article discusses the abnormal expression of TRP pathway in HCC,and reviews the key biological events of TRP pathway involved in the formation and progression of HCC,such as chronic liver inflammation-fibrosis progression,HCC cell proliferation,migration,apoptosis and HCC stem cell generation,and looks forward to its application prospect in HCC treatment.The aim is to better un-derstand the significance of TRP pathway in HCC,help to find new therapeutic targets and effective drugs,and open up a new situation for future clinical treatment.
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Anti-seizure medications (ASMs) are the main therapy for epilepsy.There are many kinds of ASMs with complex mechanism of action, so it is difficult for pharmacists to examine prescriptions.This paper put forward some suggestions on the indications, dosage forms/routes of administration, appropriateness of usage and dosage, combined medication and drug interaction, long-term prescription review, individual differences in pathophysiology of children, and drug selection when complicated with common epilepsy, for the reference of doctors and pharmacists.
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Objective:To investigate the psychological feelings of parents of children with fracture of ulna and radius during radiological examination, and to provide the basis for taking scientific and effective intervention program.Methods:Using the purposive sampling methods, a total of 30 parents of children who were treated in the pediatric orthopedics department of the emergency department of Beijing Jishuitan Hospital affiliated to Capital Medical University from January 2022 to June 2023 were selected as the research objects. A descriptive research method was adopted to conduct semi-structured interviews with parents of children, and Colaizzi′s phenomenological analysis was applied to analyze, refine, and summarize the interview information.Results:Four themes were summarized: negative emotions, information needs, seeking multi-party support and post-traumatic growth.Conclusions:The medical staff should pay close attention to the psychological status of the parents, meet their needs for information during the radiological examination, and provide targeted support measures to promote the prognosis of the children, improve the psychological adjustment and quality of life of the children and their parents.
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Objective:To describe the baseline characteristics of the subjects enrolled in the China Quantitative CT (QCT) big data program in 2018—2019.Methods:Based on baseline data from the Chinese health big data project from January 2018 to December 2019 from the eligible enrolled population, measurements of bone mineral density (BMD) and visceral adipose tissue (VAT) were performed using Mindways′ QCT Pro Model 4 system. The baseline data of age, gender, regional distribution, height, weight, abdominal circumference, blood pressure, blood routine and blood biochemical tests were analyzed. And the single factor analysis of variance (ANOVA) was used to check the age related trend of BMD and VAT in both genders.Results:After screening the inclusion exclusion criteria and outliers of the main indicators, 86 113 people were enrolled in the project. The enrollment rate was 92.47%, including 35 431 (41.1%) women and 50 682 (58.9%) men, and the ratio of men to women was 1.43. The mean age was (50.3±12.7) years in all the subjects, and it was (50.2±12.8) years and (50.4±12.5) years in men and women, respectively, and there was no statistical difference between the two genders ( P>0.05). Total of 43 833 people were enrolled in east China, it was the largest group by region (50.90%), it was followed by central China (16 434 people, 19.08%), and the number of people enrolled in Northeast China was the lowest (2 914 people, 3.38%). The rate of completing of health information indicators related to the main outcome of the study were all above 70%, and there were significant differences between men and women (all P<0.05). The mean BMD was (139.33±46.76) mg/cm 3 in women, (135.90±36.48) mg/cm 3 in men, which showed a decreasing trend with age in both gender (both P<0.001); the mean intra-abdominal fat area was (116.39±56.23) cm 2 in women, (191.67±77.07) cm 2 in men, and there was an increasing trend with age in both men and women (both P<0.001). Conclusions:There are gender differences in BMD and VAT measured by QCT with different age tendency, and there are gender differences in health information index. Regional factors should also be taken into account for regional differences in the inclusion of data.
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Objective:To investigate the normal reference values of spinal bone mineral density measured by quantitative computed tomography (QCT) and the differences of bone mineral density (BMD) in different regions of in Chinese adult males.Methods:Men who underwent low-dose CT lung scan for cancer screening in regions of Northeast, North, East, South, Central and Southwest of China from January 2018 to December 2019 were selected. And the lumbar vertebrae BMD values in the male subjects were measured by the QCT system (Mindways Software, Inc.). The mean BMD values and their decline rates were calculated at an age interval of 10 years, and the prevalence of osteoporosis was calculated according to the American College of Radiology spine QCT osteoporosis diagnostic criteria.Results:A total of 50 682 males with a mean age of (50.22±12.79) years (ranged 20 to 98 years) were included in this study. The peak BMD of (173.11±28.56) mg/cm 3 in the healthy Chinese adult male population appeared in the age group of 20 to 29 years and then declined with age. Before the age of 70 years, the BMD was relatively higher in males in South China, and it was lower in Central China and Southwest China, and it was intermediate in Northeast, North and East of China, with statistically significant differences. There was no significant differences in BMD in the males in the two age groups of 70 to 79 years and 80 and older among the regions in China. The overall decline rate of spinal BMD in Chinese males under QCT was about 46.92% over the lifetime, and it declined obviouslyin the 40-49 age group. The overall prevalence of osteoporosis in Chinese male population aged 50 years and above was approximately 11.42%, with the highest prevalence in Southwest China and Central China (14.72% and 13.87%, respectively) and the lowest in North China and South China (8.53% and 7.71%, respectively). Conclusions:A reference of lumbar spine BMD values for healthy males in China based on QCT is established. BMD values were highest in South China and Lowest in Central China.
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Objective:To establish the normal reference value of lumbar bone mineral density (BMD) under quantitative CT (QCT) in Chinese healthy adult females and to explore the regional differences.Methods:Total of 35 431 healthy women who met the inclusion criteria of Chinese health quantitative CT big data program were selected in this study. The BMD of the central plane of L 1 and L 2 vertebrae was measured by Mindways′s QCT system, and the mean value was taken. One-way analysis of variance was used to compare the BMD differences of lumbar vertebrae in women of different ages and regions. The subjects were grouped by an age interval of 10 years, and the level of BMD in different regions of the same age group were compaired. Results:The peak BMD of Chinese healthy adult women appeared in the age group of 20-29 years (Northeast China(183.01±24.58) mg/cm 3, North China (188.93±24.80) mg/cm 3, East China (187.54±27.71) mg/cm 3, South China (186.22±33.72) mg/cm 3, Central China (176.33±24.91) mg/cm 3, Southwest China(182.25±28.00) mg/cm 3), and then it decreased with age. The level of BMD in different regions decreased with the age. Before the age of 70 years, BMD in Central and Southwest China was always at a low level((176.23±24.91) to (90.38±28.12) mg/cm 3, 182.25±28.00 to (88.55±25.68) mg/cm 3), lower than those in Northeast China ((183.01±24.58) to (99.69±27.85) mg/cm 3), North China ((188.93±24.80) to (95.89±26.12) mg/cm 3), East China ((187.54±27.71) to (95.65±27.86) mg/cm 3). After 70 years of age, BMD tended to be the same in different regions ( P>0.05). The BMD values in Central China and Southwest China were similar in the age group of 40-60 years ( P>0.05). The BMD values in the health adult femles in the age group of 60 years in different regions of Chinawere all lower than those of bone mass abnormality (all P<0.05). The detection rate of osteoporosis in females over 50 years was the highest in Southwest China (25.65%) and it was the lowest in North China (17.30%). Conclusions:This study establishes reference values of BMD under QCT in healthy Chinese women, which can be used as a reference basis for identifying women with low BMD who are at risk of osteoporosis. The BMD value is the lowest in Southwest China and the highest in South China.
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Objective:To use quantitative computed tomography (QCT) technology to measure the bone mineral density of the spine of the Chinese healthy population, and to explore its correlation with hemoglobin and serum albumin.Methods:The data in this study came from the China Health Quantitative CT Big Data Project (China Biobank). The spine bone density was measured by using QCT Pro Image Analysis System and all cooperating centers used the European spine phantom (NO.145) for quality control. Total of 50 053 healthy persons who met the criteria for entry were selected as the research subjects. The subjects were divided into 7 groups according to age. The general data, spine bone density, serum albumin, hemoglobin of the subjects were collected. The single-factor analysis of variance, Pearson correlation analysis and multi-classification logistic regression model were applied to analyze the correlation between bone density and hemoglobin and serum albumin.Results:The bone mineral density of healthy people decreased with age ( P<0.05), and there were significant differences in hemoglobin, serum albumin and body mass index (BMI) among different age groups (all P<0.05). Linear correlation analysis showed that there were positive correlation between bone mineral density and hemoglobin in healthy males in different age groups ( r=0.086, 0.101, 0.076, 0.090, 0.072, 0.123, 0.100, all P<0.01). There were negative correlation between bone mineral density and hemoglobin in certain age groups in women (40-49 years group: r=-0.027; 70-79 yearsgroup: r=-0.077; both P<0.05). And corelation were found between bone mineral density and serum levels of albumin in certain age groups of healthy subjects (among men, 30-39 years group: r=-0.048; 40-49 years group, r=-0.027; 70-79 years group, r=-0.051; among women, 30-39 years group: r=-0.044; 40-49 years group, r=-0.042; 50-59 years group, r=-0.086; 70-79 years group, r=-0.070; all P<0.05). After adjusting for age and BMI, the multi-category logistic regression analysis showed that the hemoglobin level was protective factor of normal bone density ( OR=1.022, 95% CI:1.017-1.027) and decreased bone density ( OR=1.012, 95% CI:1.007-1.016) in healthy males, and the serum albumin was risk factor for normal bone density ( OR=0.926, 95% CI:0.905-0.948) and decreased bone density ( OR=1.006, 95% CI:0.951-1.011) in healthy women. Conclusion:There is a correlation between bone mineral density and hemoglobin and serum albumin in Chinese healthy population. Hemoglobin is a protective factor for bone mineral density in men, and serum albumin is a risk factor for bone mineral densityin women.
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OBJECTIVE@#To explore the genetic basis for a case of Lamb-Shaffer syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.
Subject(s)
Animals , Humans , Genomics , Heterozygote , Mutation , SOXD Transcription Factors/genetics , Sheep , Exome SequencingABSTRACT
Characterized by dihydropyrimidinuria, dihydropyrimidinase (DHP) deficiency refers to a rare disorder of pyrimidine degradation, with high phenotypic heterogeneity.The disease-causing gene is DPYS, and less than 40 cases were reported worldwide.Urinary gas chromatography/mass spectrometer (GC/MS) can screen clinically suspected patients, and gene sequencing is the main means of the diagnosis of the disease.This article reviews the pathogenesis, clinical manifestation, genotype and recent research progress of the disease.
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Objective To investigate the effect of bicalutamide on migration and invasion of androgen receptor(AR) positive breast cancer cells and related mechanism, and the effect of mTOR inhibitor everolimus combined with bicalutamide on the proliferation of MDA-MB-453 cells. Methods Western blot was used to detect the expression change of mTOR, p-mTOR and p-S6 in breast cancer cell lines before and after bicalutamide treatment. Transwell assay was used to detect the cell viability. MTT assay was used to detect the proliferation of MDA-MB-453 cells treated by the combination of bicalutamide and everolimus. The combined effect of the two drugs was calculated by Jin Zhengjun's method. Results After six days of bicalutamide treatment, the expression of mTOR, p-mTOR and p-S6 were decreased in MDA-MB-453 cells (Ρ =0.034, 0.05, 0.03). The invasion and migration were inhibited in MDA-MB-453 cells (migration: t =4.88, P =0.001, invasion: t =2.684, P =0.028). The proliferation of MDA-MB-453 cells was inhibited after the treatment of bicalutamide combined with everolimus, and the Q value were all greater than 1.15. Conclusion Bicalutamide could inhibit the invasion and migration of MDA-MB-453, and the inhibition effect is affected by the expression level of AR. The combination of bicalutamide and everolimus could synergistically inhibit the proliferation of AR positive breast cancer cells.
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Objective:To investigate the relationship between abdominal visceral adipose tissue (VAT) and cardiometabolic risk (CMR) through quantitative computed tomography (QCT).Methods:The present study included 76226 participants. Abdominal fat areas were measured using the QCT Pro Model 4 system. Cardiometabolic indices were collected, including systolic and diastolic blood pressures, fasting plasma glucose, total cholesterol, triglyceride, and low-density and high-density lipoprotein cholesterols CMR score was the sum of abnormal blood pressure, fasting glucose, triglyceride, and high-density lipoprotein cholesterol. Restricted cubic spline and ordered logistic regression models were applied.Results:The mean age was 50±13 years and the percentage of men was 58.8%. The level of VAT area was higher in men than in women (191.7±77.1 cm 2 vs 116.4±56.2 cm 2, P<0.0001 for all). After adjustment for age, the cardiometabolic indices except high-density lipoprotein cholesterol increased with increasing VAT area. When VAT area was 300 cm 2, age-adjusted odds ratios and 95% confidence intervals of a CMR score ≥ 1 were 14.61 (13.31, 16.04) for men and 5.46 (4.06, 7.36) for women, and the age-adjusted probability of a CMR score ≥ 3 was 31.7% for men and 31.3% for women. Conclusions:QCT-derived VAT is closely related to CMR. The findings suggest that measurement of visceral fat is recommended for the management of abdominal obesity in subjects who agree to undergo lung cancer screening via low-dose CT without additional radiation exposure.
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OBJECTIVE@#To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers.@*CONCLUSION@#The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Subject(s)
Child , Female , Humans , Amidohydrolases/genetics , Asian People/genetics , Exons , Metabolism, Inborn Errors/genetics , Mutation , PedigreeABSTRACT
Objective:To investigate the role of miR-106b in the cell radioresistance in colorectal carcinoma (CRC), and unravel the underlying mechanism.Methods:The CRC cell lines stably overexpressing and interfering miR-106b were established. The effect of miR-106b upon the CRC cell radiosensitivity was evaluated by cell radiation, immunofluorescence and colony formation assay. The expression levels of Caspase-3 and γ-H 2AX were detected by Western blot. The target genes of miR-106b were identified by bioinformatics prediction, which were further validated by dual luciferase assay, fluorescence quantitative PCR and Western blot. The CRC cell lines stably overexpressing miR-106b were transfected with pCDNA3.0-PTEN. The changes of CRC cell radiosensitivity were investigated. Whether miR-106b could increase the radioresistance of CRC cells by targeting PTEN was clarified. Results:Compared with the control group (miR-ctr group), the cell surviving fraction was significantly elevated ( P<0.05), the radioresistance ( P<0.05) was considerably enhanced and the expression levels of Caspase-3 and γ-H 2AX were significantly down-regulated (both P<0.05) in the miR-106b overexpression group. PTEN up-regulation in CRC cell lines stably overexpressing miR-106b could reverse the radioresistance induced by miR-106b. Conclusion:miR-106b can induce CRC cell radioresistance by inhibiting PTEN, prompting that miR-106b-PTEN might provide theoretical evidence for relevant targets which can enhance the clinical efficacy of radiotherapy.
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Background@#Two randomized phase III trials (EORTC55971 and CHORUS) showed similar progression-free and overall survival in primary or interval debulking surgery in ovarian cancer, however both studies had limitations with lower rate of complete resection and lack of surgical qualifications for participating centers. There is no consensus on whether neoadjuvant chemotherapy followed by interval debulking surgery (NACT-IDS) could be a preferred approach in the management of advanced epithelial ovarian cancer (EOC) in the clinical practice. @*Methods@#The Asian SUNNY study is an open-label, multicenter, randomized controlled, phase III trial to compare the effect of primary debulking surgery (PDS) to NACT-IDS in stages IIIC and IV EOC, fallopian tube cancer (FTC) or primary peritoneal carcinoma (PPC).The hypothesis is that PDS enhances the survivorship when compared with NACT-IDS in advanced ovarian cancer. The primary objective is to clarify the role of PDS and NACT-IDS in the treatment of advanced ovarian cancer. Surgical quality assures include at least 50% of no gross residual (NGR) in PDS group in all centers and participating centers should be national cancer centers or designed ovarian cancer section or those with the experience participating surgical trials of ovarian cancer. Any participating center should be monitored evaluating the proportions of NGR by a training set. The aim of the surgery in both arms is maximal cytoreduction. Tumor burden of the disease is evaluated by diagnostic laparoscopy or positron emission tomography/computed tomography scan. Patients assigned to PDS group will undergo upfront maximal cytoreductive surgery within 3 weeks after biopsy, followed by 6 cycles of standard adjuvant chemotherapy. Patients assigned to NACT group will undergo 3 cycles of NACT-IDS, and subsequently 3 cycles of adjuvant chemotherapy. The maximal time interval between IDS and the initiation of adjuvant chemotherapy is 8 weeks. Major inclusion criteria are pathologic confirmed stage IIIC and IV EOC, FTC or PPC; ECOG performance status of 0 to 2; ASA score of 1 to 2. Major exclusion criteria are non-epithelial tumors as well as borderline tumors; low-grade carcinoma; mucinous ovarian cancer. The sample size is 456 subjects. Primary endpoint is overall survival.
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OBJECTIVE@#To carry out genetic testing for two families affected with cobalamin C (cblC) and establish a rapid method for the detection of a hotspot pathogenic variant c.609G>A of the MMACHC gene by using a PCR-high-resolution melting curve (PCR-HRM) method.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Potential variants of the MMACHC gene was analyzed by Sanger sequencing. The c.609G>A variant of the MMACHC gene was screened among 100 healthy children with the PCR-HRM method.@*RESULTS@#Sanger sequencing revealed that proband 1 carried compound heterozygous variants c.394C>T and c.609G>A of the MMACHC gene, while proband 2 carried compound heterozygous variants c.482G>A and c.609G>A of the same gene. PCR-HRM analysis of the two probands and the 100 healthy children were consistent with the Sanger sequencing.@*CONCLUSION@#c.609G>A is a hotspot pathogenic variant of the MMACHC gene. The diagnosis of cblC may be rapidly attained through detection by PCR-HRM.
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OBJECTIVE@#To explore the genetic basis for a child with dihydropyrimidase (DHP) deficiency.@*METHODS@#High-throughput sequencing was carried out for the child. Suspected variants were verified by using Sanger sequencing.@*RESULTS@#The proband was found to carry compound heterozygous variants of the DPYS gene, namely c.1468C>T (a missense variant) and c.1339-1363del (a frameshifting variant).@*CONCLUSION@#The compound heterozygous variants of the DPYS gene probably underlie the DHP in this child. Above result has enabled genetic counseling and prenatal diagnosis for his parents.
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Background@#In China, secondary cytoreductive surgery (SCR) has been widely used in ovarian cancer (OC) over the past two decades. Although Gynecologic Oncology Group-0213 trial did not show its overall survival benefit in first relapsed patients, the questions on patient selection and effect of subsequent targeting therapy are still open. The preliminary data from our pre-SOC1 phase II study showed that selected patients with second relapse who never received SCR at recurrence may still benefit from surgery. Moreover, poly(ADP-ribose) polymerase inhibitors (PARPi) maintenance now has been a standard care for platinum sensitive relapsed OC. To our knowledge, no published or ongoing trial is trying to answer the question if patient can benefit from a potentially complete resection combined with PARPi maintenance in OC patients with secondary recurrence. @*Methods@#SOC-3 is a multi-center, open, randomized, controlled, phase II trial of SCR followed by chemotherapy and niraparib maintenance vs chemotherapy and niraparib maintenance in patients with platinum-sensitive second relapsed OC who never received SCR at recurrence. To guarantee surgical quality, if the sites had no experience of participating in any OC-related surgical trials, the number of recurrent lesions evaluated by central-reviewed positron emission tomography–computed tomography image shouldn't be more than 3. Eligible patients are randomly assigned in a 1:1 ratio to receive either SCR followed by 6 cyclesof platinum-based chemotherapy and niraparib maintenance or 6 cycles of platinum-based chemotherapy and niraparib maintenance alone. Patients who undergo at least 4 cycles of chemotherapy and must be, in the opinion of the investigator, without disease progression, will be assigned niraparib maintenance. Major inclusion criteria are secondary relapsed OC with a platinum-free interval of no less than 6 months and a possibly complete resection. Major exclusion criteria are borderline tumors and non-epithelial ovarian malignancies, received debulking surgery at recurrence and impossible to complete resection. The sample size is 96 patients. Primary endpoint is 12-month non-progression rate.
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Background@#Two randomized phase III trials (EORTC55971 and CHORUS) showed similar progression-free and overall survival in primary or interval debulking surgery in ovarian cancer, however both studies had limitations with lower rate of complete resection and lack of surgical qualifications for participating centers. There is no consensus on whether neoadjuvant chemotherapy followed by interval debulking surgery (NACT-IDS) could be a preferred approach in the management of advanced epithelial ovarian cancer (EOC) in the clinical practice. @*Methods@#The Asian SUNNY study is an open-label, multicenter, randomized controlled, phase III trial to compare the effect of primary debulking surgery (PDS) to NACT-IDS in stages IIIC and IV EOC, fallopian tube cancer (FTC) or primary peritoneal carcinoma (PPC).The hypothesis is that PDS enhances the survivorship when compared with NACT-IDS in advanced ovarian cancer. The primary objective is to clarify the role of PDS and NACT-IDS in the treatment of advanced ovarian cancer. Surgical quality assures include at least 50% of no gross residual (NGR) in PDS group in all centers and participating centers should be national cancer centers or designed ovarian cancer section or those with the experience participating surgical trials of ovarian cancer. Any participating center should be monitored evaluating the proportions of NGR by a training set. The aim of the surgery in both arms is maximal cytoreduction. Tumor burden of the disease is evaluated by diagnostic laparoscopy or positron emission tomography/computed tomography scan. Patients assigned to PDS group will undergo upfront maximal cytoreductive surgery within 3 weeks after biopsy, followed by 6 cycles of standard adjuvant chemotherapy. Patients assigned to NACT group will undergo 3 cycles of NACT-IDS, and subsequently 3 cycles of adjuvant chemotherapy. The maximal time interval between IDS and the initiation of adjuvant chemotherapy is 8 weeks. Major inclusion criteria are pathologic confirmed stage IIIC and IV EOC, FTC or PPC; ECOG performance status of 0 to 2; ASA score of 1 to 2. Major exclusion criteria are non-epithelial tumors as well as borderline tumors; low-grade carcinoma; mucinous ovarian cancer. The sample size is 456 subjects. Primary endpoint is overall survival.
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Objective@#To investigate the diagnostic value of multimodal magnetic resonance imaging (MRI) in primary central nervous system lymphoma (PCNSL).@*Methods@#The multimodal MRI findings of 16 patients with PCNSL confirmed by histopathology from January 2016 to December 2018 in Affiliated Hospital of North Sichuan Medical College were retrospectively analyzed. Routine MRI plain scan, enhancement, diffusion weighted imaging (DWI) and magnetic resonance spectroscopy (MRS) examination were performed in all cases.@*Results@#All 16 patients were diagnosed with diffuse large B cell non-Hodgkin lymphoma. There were 7 cases with solitary lesions and 9 cases with multiple lesions. A total of 36 lesions were detected, with 30 above and 6 below the curtain. Sixteen lesions were located in the deep white matter near the ventricle (among which 2 lesions involved the corpus callosum), 5 lesions in the superficial cerebral hemisphere, 7 lesions in basal ganglia, 2 lesions in thalamus, 3 lesions in cerebellum, and 3 lesions were in brainstem. T1WI showed equal or slightly low signal, and T2WI showed equal or slightly high signal. There was different degree of edema around the lesions. 32 lesions were mild to moderate, and 4 lesions were severe. On enhancement scanning, 31 lesions showed patchy, nodular or lumpy uniform enhancement; 5 lesions showed irregular annular enhancement. "Incision" was found in 12 lesions, and "angular" was found in 7 lesions. Obvious enhancement of adjacent meninges or ependymal membranes occurred in 1 case each. DWI showed 29 high signals in the focal areas and 7 equal or slightly high signals, and all apparent dispersion coefficient (ADC) values were reduced. MRS showed that choline peak increased, and N-acetyl aspartate (NAA) peak and creatine peak decreased in all cases. highly elevated lipid peak was observed in 8 cases, inverted lactic acid peak in 3 cases, and both lipid peak and lactic acid peak were observed in 2 cases.@*Conclusions@#Multimodal MRI can reflect the characteristics of PCNSL from different aspects, which is of great value in improving the diagnostic accuracy of PCNSL.
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Objective@#To study the clinical and laboratory diagnosis and follow-up of 4-hydroxy butyrate aciduria in children.@*Methods@#From June 2012 to July 2017, 9 cases in Tianjin Children′s Hospital were analyzed.According to their clinical features, multidimensional analysis was performed by using head magnetic resonance imaging (MRI), urine gas chromatography-mass spectrometry (GC/MS) semi-quantitative testing and gene mutation analysis of ALDH5A1.@*Results@#The onset age of the 9 cases was less than 1 year old, and all had psychomotor retardation, in which 4 cases with epileptic seizures, 1 case with consciousness disturbance and 1 case with involuntary movement.All the cases underwent head MRI and 4 cases showed bilateral symmetry pallidal lesions, including 1 case with symmetry abnormality of the midbrain cerebral peduncle, 1 case with encephalomalacia in left temporal cortex and 4 cases with widening of the ventricle and extracerebral space.By the urine GC/MS semi-quantitative testing, all 9 the cases showed increasing 4-hydroxy butyric acid and by the ALDH5A1 gene mutation analysis, all 9 the cases were detected with gene mutation (3 cases belonging to c. 1568C>T homozygous mutation, 1 case belonging to c. 839T>G homozygous mutation and the other 5 cases belonging to compound heterozygous mutation, which included c. 691G>A, c.1568C>T; c.1383_2delA, c.1568C>T; c.527G>A, c.691G>A; c.904G>A, c.1022C>A; c.398_399delA, c.638G>T). Nine cases were given symptomatic treatment, and 4 cases with epileptic seizures were given antiepileptic drugs.During the follow-up of the above 9 cases, 1 case died of status epilepticus, 1 case had been under control for 5 years, and 2 cases were effectively treated.Psychomotor retardation was improved in varying degrees in 8 cases.Involuntary movement disappeared in 1 case while 2 cases still showed increasing 4-hydroxy butyric acid by means of urine GC/MS semi-quantitative testing.@*Conclusions@#Most of 4-hydroxy butyrate aciduria occurs within 1 year old, with psychomotor development as the first manifestation, which can be associated with epilepsy.The head MRI is characte-rized by a symmetrical Globus pallid abnormal signal.Urine GC/MS shows an increase in 4-hydroxy butyrate, which is the basis for biochemical diagnosis of the disease.Its accumulation in the body mainly damages the central nervous system.ALDH5A1 is a disease-causing gene, in which c. 1568C>T site has a high mutation frequency, and it is speculated that this site may be a hot spot mutation in Chinese children.Patients with epilepsy may die from status epilepticus and may be used as a clinical indicator to judge the severity of the disease.There is no specific treatment, and the patients combined with epilepsy can be treated with anti-epileptic drugs.Valproic acid should be avoided as it can aggravate the condition.