1.Mechanisms of Sini San in Regulation of Gut Microbiota Against Depression and Liver Injury in CUMS Rats
Junling LI ; Yan ZHANG ; Lei WANG ; Fang QI ; Zhenzhen CHEN ; Tianxing CHEN ; Yuhang LIU ; Xueying WANG ; Xianwen TANG ; Yubo LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):33-40
ObjectiveTo explore the efficacy and mechanisms of Sini San in the treatment of depression and liver injury based on gut microbiota. MethodsThirty-two male Sprague-Dawley (SD) rats were randomly divided into a normal group, model group (M), Sini San group (MS, 2.5 g·kg-1), and fluoxetine group (MF, 2 mg·kg-1). Except for the normal group, rats in the other three groups were subjected to chronic unpredictable mild stress (CUMS). After 8 weeks, the open-field test and sucrose preference test were conducted. Enzyme-linked immunosorbent assay (ELISA) was used to detect serum corticosterone (CORT), adrenocorticotropic hormone (ACTH), corticotropin-releasing factor (CRF), lipopolysaccharide (LPS), Zonulin, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), γ-aminobutyric acid (GABA) levels in the hippocampus and prefrontal cortex, and brain-derived neurotrophic factor (BDNF) levels in the hippocampus. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect hippocampal BDNF mRNA expression. Serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels were measured using the ultraviolet lactate dehydrogenase method. The ultrastructure of the intestinal epithelium was observed by electron microscopy, and gut microbiota in rat feces were analyzed using 16S rDNA high-throughput sequencing. ResultsCompared with the normal group, the sucrose preference of rats in the model group was significantly reduced (P0.01), whereas it was significantly increased in the Sini San group compared with the model group (P0.05). Compared with the normal group, hippocampal GABA protein levels and BDNF mRNA expression in the model group were significantly decreased (P0.05), and compared with the model group, both were significantly increased in the Sini San group (P0.05, P0.01). Compared with the normal group, serum LPS and Zonulin levels in the model group were significantly increased (P0.05, P0.01), and compared with the model group, Zonulin levels in the Sini San group were significantly decreased (P0.05). No obvious changes were observed in the ultrastructure of the jejunal mucosa among groups. Compared with the normal group, widened and blurred tight junctions, sparse and shortened microvilli, and mitochondrial swelling with cristae disruption in epithelial cells were observed in the ileal and colonic mucosa of the model group, which were markedly improved in the Sini San and fluoxetine groups. The results of 16S rDNA high-throughput sequencing showed that Sini San improved CUMS-induced dysbiosis of Bacteroidetes and Proteobacteria. Correlation analysis indicated that Bacteroidetes and Proteobacteria were significantly correlated with depression-related indicators, liver function, and intestinal mucosal permeability. ConclusionSini San exerts antidepressant and hepatoprotective effects by improving Bacteroidetes and Proteobacteria and inhibiting the increase in intestinal mucosal permeability in CUMS rats.
2.Mechanisms of Sini San in Regulation of Gut Microbiota Against Depression and Liver Injury in CUMS Rats
Junling LI ; Yan ZHANG ; Lei WANG ; Fang QI ; Zhenzhen CHEN ; Tianxing CHEN ; Yuhang LIU ; Xueying WANG ; Xianwen TANG ; Yubo LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(3):33-40
ObjectiveTo explore the efficacy and mechanisms of Sini San in the treatment of depression and liver injury based on gut microbiota. MethodsThirty-two male Sprague-Dawley (SD) rats were randomly divided into a normal group, model group (M), Sini San group (MS, 2.5 g·kg-1), and fluoxetine group (MF, 2 mg·kg-1). Except for the normal group, rats in the other three groups were subjected to chronic unpredictable mild stress (CUMS). After 8 weeks, the open-field test and sucrose preference test were conducted. Enzyme-linked immunosorbent assay (ELISA) was used to detect serum corticosterone (CORT), adrenocorticotropic hormone (ACTH), corticotropin-releasing factor (CRF), lipopolysaccharide (LPS), Zonulin, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), γ-aminobutyric acid (GABA) levels in the hippocampus and prefrontal cortex, and brain-derived neurotrophic factor (BDNF) levels in the hippocampus. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect hippocampal BDNF mRNA expression. Serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels were measured using the ultraviolet lactate dehydrogenase method. The ultrastructure of the intestinal epithelium was observed by electron microscopy, and gut microbiota in rat feces were analyzed using 16S rDNA high-throughput sequencing. ResultsCompared with the normal group, the sucrose preference of rats in the model group was significantly reduced (P<0.01), whereas it was significantly increased in the Sini San group compared with the model group (P<0.05). Compared with the normal group, hippocampal GABA protein levels and BDNF mRNA expression in the model group were significantly decreased (P<0.05), and compared with the model group, both were significantly increased in the Sini San group (P<0.05, P<0.01). Compared with the normal group, serum LPS and Zonulin levels in the model group were significantly increased (P<0.05, P<0.01), and compared with the model group, Zonulin levels in the Sini San group were significantly decreased (P<0.05). No obvious changes were observed in the ultrastructure of the jejunal mucosa among groups. Compared with the normal group, widened and blurred tight junctions, sparse and shortened microvilli, and mitochondrial swelling with cristae disruption in epithelial cells were observed in the ileal and colonic mucosa of the model group, which were markedly improved in the Sini San and fluoxetine groups. The results of 16S rDNA high-throughput sequencing showed that Sini San improved CUMS-induced dysbiosis of Bacteroidetes and Proteobacteria. Correlation analysis indicated that Bacteroidetes and Proteobacteria were significantly correlated with depression-related indicators, liver function, and intestinal mucosal permeability. ConclusionSini San exerts antidepressant and hepatoprotective effects by improving Bacteroidetes and Proteobacteria and inhibiting the increase in intestinal mucosal permeability in CUMS rats.
3.The effect of left colic artery preservation on low anterior resection syndrome in patients of rectal cancer
Junling ZHANG ; Shuo FENG ; Tao WU ; Changyou WANG ; Guowei CHEN ; Yong JIANG ; Lie SUN ; Tao LIU ; Jingui WANG ; Weidong DOU ; Yingchao WU ; Xin WANG
Chinese Journal of General Surgery 2025;40(2):88-93
Objective:To investigate the effect of left colonic artery (LCA) preservation on rectal cancer patients' short-term postoperative anal function and quality of life.Methods:Two-hundred ninty-two patients with rectal cancer at the Department of Gastrointestinal Surgery of Peking University First Hospital between Jan 2022 and Dec 2023 were enrolled . The patients were divided into two groups according to whether the LCA was preserved during surgery or not. The LARS scale and EORTC QLQ-CR29 quality of life questionnaire were used to assess postoperative anal function and quality of life.Results:There were no significant differences between the two groups in terms of the amount of surgical blood loss and the number of lymph node dissections in the root No. 253 group and the time to postoperative voiding (all P>0.05). However, the LARS scores at 1 and 3 months postoperatively were significantly lower in the preserved LCA group than in the LCA nonpreserved group, especially for gas incontinence, loose stool leakage, and number of bowel movements (all P<0.05). The EORTC QLQ-CR29 scores showed that the LCA preserved group recovered significantly better than the non-preserved group in terms of postoperative voiding dysfunction ( P=0.007), urinary incontinence ( P=0.006), mucus discharge ( P=0.009), and fecal incontinence symptoms ( P<0.001). Male sexual dysfunction recovery was quicker in the preserved LCA group ( P=0.043), but there was no significant difference between the two groups at 3 months postoperatively( P>0.05). Conclusion:Preservation of the left colonic artery in low anterior resection of rectal cancer helps to reduce the incidence of postoperative low anterior resection syndrome, improve genitourinary symptoms, and improve patients' quality of life.
4.Analysis of the surgical management of gastrointestinal foreign bodies
Sixian WANG ; Tao LIU ; Yingchao WU ; Tao WU ; Guowei CHEN ; Yong JIANG ; Lie SUN ; Jingui WANG ; Yiming LIU ; Weidong DOU ; Xiao CHEN ; Tianye LIU ; Junling ZHANG ; Xin WANG
Chinese Journal of General Surgery 2025;40(11):874-878
Objective:Analyze the risk factors of gastrointestinal perforation caused by foreign body and summarize the experience of surgical treatment of foreign bodies.Method:From Jan 2008 to Dec 2023, 89 patients with foreign bodies in the digestive tract were admitted to the Department of Gastrointestinal Surgery, Peking University First Hospital. Relevant data were collected and binary logistic regression was used to analyze the independent risk factors for intestinal perforation, resection and anastomosis of intestine or enterostomy/colostomy.Results:The mean age of 89 patients was (60.1±16.2) years old, 65 patients (73%) had unintentionally ingested foreign bodies. The most common foreign bodies were jujube pits (40 cases). Thirty-nine patients diagnosed with gastrointestinal perforation. Binary Logistic regression analysis showed that the total number of leukocytes ( OR=4.085, 95% CI: 1.214-13.745, P=0.023), sharp foreign body ( OR=26.124, 95% CI: 5.194-131.392, P<0.001), and the location of foreign body ( OR=3.980, 95% CI: 1.178-13.465, P=0.026) were the independent risk factors for gastrointestinal perforation. Thirty-three patients underwent gastrointestinal repair surgery, and 36 patients underwent resection and anastomosis of intestine or enterostomy/colostomy. Binary Logistic regression analysis showed that the foreign body located in the colorectum ( OR=71.928, 95% CI: 4.646-1 113.479, P=0.002) and the length of the foreign body ≤2.5 cm ( OR=5.791, 95% CI: 1.606-20.882, P=0.007) were the independent risk factors for resection and anastomosis of intestine or enterostomy/colostomy. Conclusions:Leukocyte count ≥10×10 9/L, sharp foreign body, and location of foreign body are independent risk factors for gastrointestinal perforation. Foreign body located in the colorectum and foreign body length ≤2.5 cm are risk factors for resection and anastomosis of intestine or enterostomy/colostomy.
5.Efficacy of transcranial magnetic stimulation with different frequencies for PSD patients and analysis of their EEG characteristics
Xiaoyun LI ; Jing CHU ; Junling ZHANG ; Zhaonian KUANG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2025;27(10):1354-1358
Objective To analyze the efficacy of rTMS with different frequencies for PSD patients and analyze their EEG characteristics.Methods A total of 123 PSD patients admitted in our de-partment from May 2022 to May 2024 were recruited,and according to the frequency of rTMS,they were divided into high-frequency group(41 cases),intermediate-frequency group(41 cases)and low-frequency group(41 cases).Video fluoroscopic swallowing study(VFSS)was used to evaluate the swallowing function of patients swallowing different foods in the frontal and lateral positions.The swallowing function,motor evoked potential(MEP)of mandibular hyoid muscle,EEG characteristics and adverse reactions were compared among the groups.Results Compared with the high-frequency group,the VFSS score and MEP amplitude were decreased remarkably,while the Wadian drinking water test score and MEP latency were increased notably in the middle-frequency group and the low-frequency group(P<0.05).The low-frequency group had signifi-cantly lower VFSS score and MEP amplitude(6.02±1.12 vs 6.57±1.01,102.25±19.81 μV vs 131.84±18.61 μV,P<0.05),and higher Wadian drinking water test score and extended MEP latency than the intermediate-frequency group(2.03±0.31 vs 1.65±0.32,11.15±1.28 ms vs 9.21±1.36 ms,P<0.05).After intervention,the amplitudes of the left anterior temporal lobe,the left middle temporal lobe,the middle central lobe,the left upper lobe and the right occipital lobe were gradually decreased in the high-frequency group,the middle-frequency group and the low-frequency group in order,with statistical significances(P<0.05).Conclusion High-frequency rTMS can effectively regulate the MEP of mandibular hyoid muscle and EEG characteristics in PSD patients,improve swallowing function,and have no obvious adverse reactions,with high safety.
6.Clinical pathway for integrated traditional Chinese and Western medicine in the diagnosis and treatment of acute pancreatitis
Yuan ZHANG ; Hao WANG ; Haiyan YIN ; Shengwei JIN ; Bangjiang FANG ; Guiwei LI ; Xijing ZHANG ; Hongmei GAO ; Donghao WANG ; Changsong WANG ; Keliang XIE ; Lai JIANG ; Yan QU ; Zhaocai ZHANG ; Jianying KAN ; Daihua YU ; Junling LIU ; Jun LI ; Weiwei AN ; Yong CHEN ; Jianbo YU
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2025;32(3):257-261
Acute pancreatitis(AP)is a frequently encountered acute abdominal syndrome in clinical settings,and the integrated model of traditional Chinese and Western medicine(TCM-WM)has demonstrated notable advantages in the diagnosis and treatment of AP.To systematize and standardize clinical practices related to develop clinical pathway for integrated TCM-WM diagnosis and treatment of AP,which enhances the efficiency and quality of patient care.This pathway focuses on AP,a common acute and life-threatening disease within the digestive system,and outlines that the central pathological mechanism involves pancreatic injury and localized inflammation resulting from the abnormal activation of pancreatic enzymes.It has the characteristics of rapid onset,multiple causes,and complex manifestations.Severe cases can be life-threatening.At present,conventional treatments encompass a diverse range of modalities.Moreover,traditional Chinese medicine(TCM)holds distinct advantages in alleviating relevant symptoms,and TCM-WM is gaining increasing prevalence.To enhance the standardization and consistency of diagnostic and therapeutic practices,this clinical pathway clearly delineates the target patient population,which includes individuals diagnosed with abdominal pain disorder according to TCM and with AP in accordance with WM criteria,as well as the corresponding inclusion standards.The diagnostic framework integrates both TCM and WM guidelines,and further incorporates disease staging,severity grading,and syndrome differentiation to support a comprehensive and integrated diagnostic strategy.The treatment integrates approaches from both TCM and WM.Within the WM framework,interventions consist of basic supportive care,infection control,nutritional support,and the management of complications.In the context of TCM,the protocol includes syndrome differentiation and corresponding therapeutic strategies(Distinct syndrome patterns are identified and managed during the acute and convalescent phases),such as acupuncture and retention enema.This clinical pathway addresses multiple key components,including preventive strategies,post-treatment follow-up,criteria for evaluating therapeutic efficacy,admission and discharge,admission examination protocols,discharge criteria,and the rationale for deviations or withdrawal from the pathway.It is designed to provide a systematic and standardized reference framework for relevant clinical practices.
7.Evaluation of left ventricular function changes in pregnant women with different severities of hypertensive disorders of pregnancy by strain and tissue-tracking mitral annular displacement parameters
Ziyue WANG ; Xinxia WANG ; Hezhou LI ; Juan WU ; Junling ZHANG ; Yun LIU ; Yu CUI ; Manyu LI ; Yulu MIAO
Chinese Journal of Ultrasonography 2025;34(9):784-791
Objective:To evaluate the changes in left ventricular structure and function in pregnant women with different severities of hypertensive disorders of pregnancy(HDP)using conventional echocardiographic parameters,strain,and tissue-tracking mitral annulus displacement(TMAD)parameters,and to validate and compare the application value of strain and TMAD parameters.Methods:A total of 148 singleton pregnant women with HDP and 100 healthy pregnant women(HP group)who attended the Third Affiliated Hospital of Zhengzhou University from October 2023 to July 2024 were selected. Conventional echocardiographic parameters,strain,and TMAD parameters were collected. Based on the severity of the disease,HDP patients were divided into the gestational hypertension group(GH group, n=49),non-severe preeclampsia group(NSPE group, n=35),and severe preeclampsia group(SPE group, n=64). The differences in various parameters between the HP,GH,NSPE,and SPE groups were compared. The correlation between the displacement ratio of the midpoint of the mitral valve annulus in the apical 4-chamber(AP4 Midpt%),the displacement ratio of the midpoint of the mitral valve annulus in the apical 2-chamber(AP2 Midpt%)and left ventricular global longitudinal strain(LVGLS)were analyzed,and ROC curves were plotted to analyze and compare the diagnostic efficacies of LVGLS,AP4 Midpt% and AP2 Midpt% for left ventricular function changes in HDP pregnant women. Results:① The analysis revealed no statistically significant differences in maternal age and height between the HP group and the HDP subgroups(all P>0.05). In contrast,statistically significant differences were observed in gestational age,systolic blood pressure,diastolic blood pressure,body mass index,and body surface area(all P<0.05). Additionally,significant differences were noted in left ventricular mass,left ventricular interventricular septum thickness at end-diastole,left ventricular posterior wall thickness at end-diastole,left ventricular end-diastolic dimension,left ventricular end-systolic dimension,left ventricular end-diastolic volume,left ventricular end-systolic volume,and stroke volume between the HP group and the HDP subgroups(all P<0.05),while the difference in left ventricular ejection fraction was not statistically significant( P>0.05). ② Significant differences were identified in strain and TMAD parameters between the HP group and the HDP subgroups(all P<0.05),with LVGLS,AP4 Midpt% and AP2 Midpt% exhibited the largest effect sizes( η p2=0.457,0.453,0.351). A progressive decline in strain and TMAD parameters was observed as the severity of HDP increased. ③ There were strong positive correlations between AP4 Midpt%,AP2 Midpt% and LVGLS( r=0.752,0.747;all P<0.001). ④ LVGLS,AP4 Midpt% and AP2 Midpt% all demonstrated significant diagnostic efficacies for changes in left ventricular function in HDP(AUC=0.840,0.847,0.791),and the differences in AUC among the 3 curves were not statistically significant(all P>0.05).⑤ The success rate of collecting TMAD parameters was significantly higher than that of strain parameters(99.24% vs. 93.58%, P<0.001). Conclusions:As the severity of the disease worsens,the changes of left ventricular structure and function in pregnant women with HDP become more and more significant. Both strain and TMAD parameters can early and sensitively identify the subclinical damage of left ventricular systolic function in HDP pregnant women,and both of them have the same diagnostic value. TMAD parameters can be used as a reliable substitute parameter of LVGLS in HDP pregnant women.
8.Surveillallce report of prevalence of ventilator-associated pneumonia in 93 hospitals of Gansu Province in 2023
Xiarong LI ; Ziyan YAO ; Yujuan FENG ; Haojun ZHANG ; Junling WANG
Chinese Journal of Nosocomiology 2025;35(22):3447-3451
OBJECTIVE To retrospectively analyze the prevalence of ventilator-associated pneumonia(VAP)in Gansu Province in 2023 so as to provide scientific bases for formulating and optimizing prevention and control strategies for VAP in the health care institutions of the province.METHODS The data regarding to VAP of 2023 were collected from the regional surveillance platform of Gansu Province Nosocomial Infection Management Quali-ty Control Center.The influencing factors for the VAP were assessed by means of Poisson regression model.RESULTS In 2023,the median incidence of VAP was 3.51 ‰ among the 93 hospitals in Gansu Province.There was significant difference in the incidence of VAP among the different regions,levels and types of hospitals(P<0.05).The length of hospital stay and ventilator treatment duration of the tertiary hospitals were 3458(1904,6770)days and 1 274(740,2040)days,respectively,higher than those of the secondary hospitals;the incidence of VAP was 4.89(2.82,7.40)‰ in the tertiary hospitals,higher than that in the secondary hospitals(all P<0.05).The incidence of VAP of the general hospitals was 3.94(2.66,6.92)‰,higher than 2.06(1.03,3.27)‰ of the specialized hospitals(P<0.001).With the respect to the regional factor,Qingyang City,Baiyin City,Dingxi City and Linxia City were at lower risk of VAP than Lanzhou City after the related factors were controlled through Poisson regression analysis(P<0.05),while Zhangye City and Jiayuguan City were at higher risk of VAP(P<0.05).The analysis of seasonal factors showed that the incidence of VAP presented seasonal fluctuation,the inci-dence of VAP was higher in the second and fourth quarters;however,there was no significant difference in the risk of VAP among the quarters.CONCLUSIONS The incidence of VAP is decreased in Gansu Province in 2023 as compared with that in previous years,however,there is certain difference among the different regions.The inci-dence rates of VAP are relatively high in the tertiary hospitals and the general hospitals.It is necessary to strengthen the surveillance in related areas and take active prevention and control measures,so as to reduce the in-cidence of VAP.
9.Clinical and genetic analysis of RARS2-related pontocerebellar hypoplasia
Xiaoli ZHANG ; Mengyue WANG ; Jialin LI ; Yichao MA ; Junling WANG ; Xiaoli LI ; Rui HAN ; Dan XU ; Shuang JIN ; Tianming JIA ; Shujin LI ; Xianjie HUANG ; Yueqin LI
Chinese Journal of Medical Genetics 2025;42(9):1096-1105
Objective:To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants. Methods:The clinical data of 6 children with RARS2 gene variants diagnosed at the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2024 were collected. Genetic variants were detected using trio-whole exome sequencing. Genomic DNA was extracted from samples and subjected to high-throughput sequencing. Variants were detected and analyzed using relevant databases and software. Pathogenic variants were validated by Sanger sequencing. The protein structure encoded by a previously unreported variant was predicted using a SWISS-MODEL online server. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-373-01). Results:Among the six children, four were males and two were females, with the most recent follow-up age ranging from 1-year-and-1-month to 7 years old. The age of onset was under 1 year in all cases. All six children exhibited seizures, including infantile spasms in three, spasms and tonic spasms in one, and focal seizures in two. One child became seizure-free for 4 ~ 5 years following Valproic acid combined with topiramate and adrenocorticotropic hormone (ACTH) pulse therapy, but subsequently experienced a relapse. Another child has remained seizure-free for nearly one year with oral sodium valproate, levetiracetam, and a " cocktail" therapy. Seizures were not controlled in the remaining four children. Pontocerebellar hypoplasia was observed on neuroimaging in two children. All six patients exhibited severe psychomotor retardation. A total of 10 RARS2 gene variants were identified, three of which were previously unreported. Conclusion:The predominant clinical features of Pontocerebellar hypoplasia associated with RARS2 gene variants include infantile onset, severe psychomotor retardation or regression, drug-resistant epilepsy, and feeding difficulties. The characteristic neuroimaging finding is pontocerebellar hypoplasia. However, its appearance may vary widely with time. The majority of affected children have a poor prognosis.
10.Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia.
Xiaoli ZHANG ; Mengyue WANG ; Jialin LI ; Yichao MA ; Junling WANG ; Xiaoli LI ; Rui HAN ; Dan XU ; Shuang JIN ; Tianming JIA ; Shujin LI ; Xianjie HUANG ; Yueqin LI
Chinese Journal of Medical Genetics 2025;42(9):1096-1105
OBJECTIVE:
To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants.
METHODS:
The clinical data of 6 children with RARS2 gene variants diagnosed at the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2024 were collected. Genetic variants were detected using trio-whole exome sequencing. Genomic DNA was extracted from samples and subjected to high-throughput sequencing. Variants were detected and analyzed using relevant databases and software. Pathogenic variants were validated by Sanger sequencing. The protein structure encoded by a previously unreported variant was predicted using a SWISS-MODEL online server. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-373-01).
RESULTS:
Among the six children, four were males and two were females, with the most recent follow-up age ranging from 1-year-and-1-month to 7 years old. The age of onset was under 1 year in all cases. All six children exhibited seizures, including infantile spasms in three, spasms and tonic spasms in one, and focal seizures in two. One child became seizure-free for 4 ~ 5 years following Valproic acid combined with topiramate and adrenocorticotropic hormone (ACTH) pulse therapy, but subsequently experienced a relapse. Another child has remained seizure-free for nearly one year with oral sodium valproate, levetiracetam, and a "cocktail" therapy. Seizures were not controlled in the remaining four children. Pontocerebellar hypoplasia was observed on neuroimaging in two children. All six patients exhibited severe psychomotor retardation. A total of 10 RARS2 gene variants were identified, three of which were previously unreported.
CONCLUSION
The predominant clinical features of Pontocerebellar hypoplasia associated with RARS2 gene variants include infantile onset, severe psychomotor retardation or regression, drug-resistant epilepsy, and feeding difficulties. The characteristic neuroimaging finding is pontocerebellar hypoplasia. However, its appearance may vary widely with time. The majority of affected children have a poor prognosis.
Humans
;
Male
;
Female
;
Child, Preschool
;
Infant
;
Child
;
Olivopontocerebellar Atrophies/genetics*
;
Arginine-tRNA Ligase/genetics*
;
Mutation
;
Cerebellar Diseases

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