Objective:To investigate the clinical characteristics and genetic variations of patients with aminoacylase-1 deficiency (ACY1D) caused by ACY1 gene mutations, in order to enhance clinicians′ understanding of this rare disease. Methods:Clinical and genetic data of a child with ACY1D admitted to Sir Run Run Hospital, Nanjing Medical University in December 2021 were collected. Using "aminoacylase-1 deficiency" "aminoacylase-1 gene" " ACY1" and "ACY1D" as keywords, relevant cases of ACY1 gene mutations were searched in CNKI, Wanfang Data Knowledge Service Platform, OMIM, and PubMed databases until February 2025. The clinical characteristics and types of genetic variations of previously reported ACY1D patients were summarized and analyzed. Results:The patient was an 8-year and 4-month-old boy. Clinical manifestations included growth retardation, ataxia, and focal epileptic seizures. Increased excretion of various N-acetylamino acids was observed in the urine. Cranial magnetic resonance imaging showed cerebellar atrophy. Whole-exome sequencing results showed a compound heterozygous mutation in the ACY1 gene: c.1063-1G>A (IVS14-1G>A) and c.170G>A (p.G57D) (reference transcript NM_000666.2), with c.170G>A (p.G57D) being a novel mutation. Family validation results showed that the c.1063-1G>A (IVS14-1G>A) mutation originated from his mother, and the c.170G>A (p.G57D) mutation originated from his father. By literature review 11 English articles were retrieved reporting 18 ACY1D patients, along with the child in this study, totaling 19 cases, with an onset age ranging from 1 week to 4 years and 6 months. Among them, 13/19 patients showed growth retardation, 9/19 patients had language disorders, 8/19 patients had intellectual disabilities, 7/19 patients had ataxia and low muscle tone, 6/19 patients had epilepsy and febrile convulsions, and 3/19 patients had irritability, autism, and muscle weakness. Genetic testing results indicated various types of mutations in the ACY1 gene, including missense, splicing, and frameshift mutations. Conclusions:ACY1D is an autosomal recessive genetic disease caused by ACY1 gene mutations, which is relatively rare in China. The main clinical manifestations include growth retardation, intellectual and language disorders. The c.170G>A heterozygous mutation is a newly discovered variant site, expanding the mutation spectrum of the ACY1 gene. Screening for ACY1 gene variations can aid in achieving a definitive diagnosis..

Objective:To investigate the clinical characteristics and genetic variations of patients with aminoacylase-1 deficiency (ACY1D) caused by ACY1 gene mutations, in order to enhance clinicians′ understanding of this rare disease. Methods:Clinical and genetic data of a child with ACY1D admitted to Sir Run Run Hospital, Nanjing Medical University in December 2021 were collected. Using "aminoacylase-1 deficiency" "aminoacylase-1 gene" " ACY1" and "ACY1D" as keywords, relevant cases of ACY1 gene mutations were searched in CNKI, Wanfang Data Knowledge Service Platform, OMIM, and PubMed databases until February 2025. The clinical characteristics and types of genetic variations of previously reported ACY1D patients were summarized and analyzed. Results:The patient was an 8-year and 4-month-old boy. Clinical manifestations included growth retardation, ataxia, and focal epileptic seizures. Increased excretion of various N-acetylamino acids was observed in the urine. Cranial magnetic resonance imaging showed cerebellar atrophy. Whole-exome sequencing results showed a compound heterozygous mutation in the ACY1 gene: c.1063-1G>A (IVS14-1G>A) and c.170G>A (p.G57D) (reference transcript NM_000666.2), with c.170G>A (p.G57D) being a novel mutation. Family validation results showed that the c.1063-1G>A (IVS14-1G>A) mutation originated from his mother, and the c.170G>A (p.G57D) mutation originated from his father. By literature review 11 English articles were retrieved reporting 18 ACY1D patients, along with the child in this study, totaling 19 cases, with an onset age ranging from 1 week to 4 years and 6 months. Among them, 13/19 patients showed growth retardation, 9/19 patients had language disorders, 8/19 patients had intellectual disabilities, 7/19 patients had ataxia and low muscle tone, 6/19 patients had epilepsy and febrile convulsions, and 3/19 patients had irritability, autism, and muscle weakness. Genetic testing results indicated various types of mutations in the ACY1 gene, including missense, splicing, and frameshift mutations. Conclusions:ACY1D is an autosomal recessive genetic disease caused by ACY1 gene mutations, which is relatively rare in China. The main clinical manifestations include growth retardation, intellectual and language disorders. The c.170G>A heterozygous mutation is a newly discovered variant site, expanding the mutation spectrum of the ACY1 gene. Screening for ACY1 gene variations can aid in achieving a definitive diagnosis..

Objective To investigate the relationship between the total burden of cerebral small vessel diseases(CSVD) and recurrent ischemic stroke. Methods We included 704 patients with acute ischemic stroke with complete clinical data admitted to our hospital from June 2019 to December 2020.They were scored for the total CSVD burden. After follow-ups of 90 days and one year,they were divided into recurrence group and non-recurrence group according to whether there was a recurrent ischemic stroke. The clinical data and imaging data of the two groups were compared. The risk factors for recurrent ischemic stroke were determined by Logistic regression analysis. The predictive value of the total CSVD burden for stroke recurrence was evaluated using the area under the receiver operating characteristic curve(AUC). Results At the 90-day follow-up,there were 25(3.55%) cases in the recurrence group and 679(96.45%) cases in the non-recurrence group. The two groups differed significantly in age,the use of antiplatelet drugs,cerebral artery stenosis,total CSVD burden,white matter hyperintensities(WMH),cerebral microbleeds(CMB),and lacunes. The Logistic regression analysis showed that cerebral artery stenosis and the total CSVD burden were independent risk factors for recurrent ischemic stroke,while the use of antiplatelet drugs was an independent protective factor against stroke recurrence. At the one-year follow-up,there were 100(14.20%) cases in the recurrence group and 604(85.80%) cases in the non-recurrence group,with significant differences in age,hypertension,diabetes,fasting blood glucose level,the use of antiplatelet drugs,the use of lipid-regulating drugs,cerebral artery stenosis,the total CSVD burden,WMH,CMB,and lacunes. The Logistic regression analysis showed that the independent risk factors for stroke recurrence included hypertension,diabetes,cerebral artery stenosis,the total CSVD burden,WMH,and CMB,while the use of antiplatelet drugs was the independent protective factor. The AUC of the total CSVD burden was 0.823 at the 90-day follow-up and 0.746 at the 1-year follow-up,indicating moderate predictive value of the total CSVD burden for 90-day and 1-year stroke recurrence. Conclusion The total CSVD burden is associated with recurrent ischemic stroke. It is an independent risk factor for recurrent ischemic stroke,which can be a predictive indicator for ischemic stroke recurrence.

Objective:To explore the clinical efficacy of double traction-assisted reduction internal fixation and open reduction internal fixation in treating tibial plateau fractures.Methods:Data of patients with tibial plateau fracture admitted to West China Hospital of Sichuan University from January 2016 to December 2021 were retrospectively analyzed, and patients were divided into two groups according to treatment method: double traction-closed reduction internal fixation group (referred to as double traction group) and open reduction internal fixation group (referred to as open group). The double traction group included 21 patients, with 15 male and 6 female patients, with a mean age of 56.14±9.24 years (range, 45-72 years). Schatzker classification of fractures: 1 type I, 2 type II, 2 type III, 5 type IV, 6 type V, and 5 type VI. The open group included 29 patients, with 20 male and 9 female patients, with a mean age of 58.97±4.84 years (range, 47-70 years). Schatzker classification of fractures: 2 type I, 4 type II, 8 type III, 4 type IV, 5 type V, and 6 type VI. The surgical time, incision length, intraoperative blood loss, length of hospital stays, fracture healing time, postoperative time to full weight bearing, Rasmussen score, Hospital for Special Surgery (HSS) knee score, and complications were compared between the two groups of patients.Results:Both groups were followed up for 24 to 36 months, with an average of 30 months. There were significant differences in the operation time (92.61±6.22 min vs. 47.92±9.53 min), incision length (4.54±0.56 cm vs. 6.26±0.51 cm), and intraoperative blood loss (47.05±9.72 ml vs. 156.82±4.62 ml) between the group treated with closed reduction and double traction and the group treated with open reduction, with statistical significance ( t=18.83, 10.78, 53.24, P<0.001). There were also significant differences in the hospitalization time (5.35±0.41 d vs. 5.84±0.78 d), fracture healing time (3.72±0.74 months vs. 4.22±0.42 months), and time to full weight-bearing after surgery (11.29±1.10 weeks vs. 15.07±1.96 weeks) between the two groups, with statistical significance ( t=2.30, P=0.026; t=3.38, P<0.001; t=7.96, P<0.001). The HSS score at 6 months after surgery in the group treated with closed reduction and double traction was 81.61±2.32 points, which was higher than the score in the group treated with open reduction (77.66±4.01 points), with statistical significance ( t=4.07, P<0.001); at 12 months after surgery, the Rasmussen score in the group treated with closed reduction and double traction was 16.71±1.00 points, which was higher than the score in the group treated with open reduction (13.79±1.42 points), with statistical significance ( t=8.05, P<0.001). There was no fracture malunion or compartment syndrome occurred in both groups. The incidence of complications was 5% (1/21) in the group treated with closed reduction and double traction, and 10% (3/29) in the group treated with open reduction, with statistical significance (χ 2=0.52, P=0.473). Conclusion:The advantages of double traction-assisted reduction and internal fixation for tibial plateau fractures include minimal trauma, minimal bleeding, early mobilization, and shorter fracture healing time. It is a safe and reliable treatment method.

Objective:To investigate the relations between enlarged perivascular spaces (EPVS) and cognitive impairment in patients with acute mild ischemic stroke.Methods:A total of 234 patients with acute mild ischemic stroke admitted to our hospital from October 2019 to June 2021 were chosen in our study. According to the Montreal Cognitive Assessment (MoCA) scores 7 d after admission, these patients were divided into normal cognitive function group (MoCA scores≥26) and cognitive impairment group (MoCA scores<26). The clinical data and imaging data of patients from the 2 groups were compared. Multivariate Logistic regression analysis was used to determine the independent influencing factors for post-stroke cognitive impairment (PSCI). Spearman correlation analysis was performed to analyze the correlations of severity degrees of EPVS of basal ganglia with MoCA total scores and each cognitive domain scores in patients from cognitive impairment group.Results:Among the 234 patients, 73 (31.2%) had normal cognitive function and 161 (68.8%) had cognitive impairment. As compared with normal cognitive function group, patients from cognitive impairment group had significantly older age, significantly less years of education, statistically higher fasting blood glucose level, significantly higher proportion of patients with moderate and severe basal ganglia EPVS, and significantly higher proportion of patients with white matter lesion (WML) grading 2 and 3 ( P<0.05). Multivariate Logistic regression analysis showed that age, years of education, basal ganglia EPVS and WML grading were independent influencing factors for PSCI ( OR=1.049, 95%CI: 1.007-1.093, P=0.021; OR=0.910, 95%CI: 0.832-0.995, P=0.039; OR=0.760, 95%CI: 1.176-2.637, P=0.006; OR=2.270, 95%CI: 1.219-4.228, P=0.010). Correlation analysis showed that the severity degrees of basal ganglia EPVS were negatively correlated with MoCA scores, and scores of visual space and executive ability scale, attention scale, language scale and delayed recall scale ( P<0.05). Conclusion:Acute mild ischemic stroke patients with older age, less years of education, severer basal ganglia EPVS and higher WML grading trends to have cognitive impairment; basal ganglia EPVS mainly affects the cognitive domains of visual space and executive ability, attention, language, and delayed recall.

Enlarged perivascular spaces (EPVS) are one of the early characteristic imaging manifestations of cerebral small vessel disease. Studies have shown that EPVS may be an early independent risk factor for post-stroke cognitive impairment (PSCI), and it plays an important role in the occurrence and development of cognitive impairment. This article reviews the correlation between EPVS and PSCI.

Silent cerebral small vessel disease is a series of imaging and pathological syndromes caused by intracranial small vessel disease. It is named for the lack of clinically recognizable stroke symptoms. Its imaging characteristics are mainly cerebral microbleeds, white matter hypertensities, lacune, and enlarged perivascular space. Recent studies have shown that patients with intracerebral hemorrhage often have varying degrees of cerebrovascular disease imaging changes, which seriously affect the clinical outcome of patients. This article reviews the relationship between silent small vessel disease and outcome in patients with intracerebral hemorrhage.

Cerebral hyperperfusion syndrome is a rare but life-threatening complication after carotid endarterectomy and carotid artery stenting. If it is not identified and adequately treated in time, it may cause severe neurological impairment or even death due to cerebral edema or cerebral hemorrhage. This article reviews the risk factors, pathophysiological mechanisms, clinical manifestations, imaging diagnosis and treatment of cerebral hyperperfusion syndrome.

The total burden of cerebral small vessel disease (CSVD) is recently proposed to estimate the full impact of CSVD on the brain, and the evaluated method is to calculate the scores of MR imaging features of four kinds of CSVD, which includes white matter hypertensity, cerebral microbleeds, lacune and enlarged perivascular space. Patients with post stroke depression (PSD) often have different imaging features of CSVD. Recent research shows that the total burden of CSVD is closely related to PSD. This article reviews the relation between total burden of CSVD and PSD.

Objective To investigate the relationship between the total burden of cerebral small vessel disease (CSVD) and the outcomes in patients with large artery atherosclerotic (LAA) stroke.Methods From June 2016 to January 2018,patients with LAA stroke treated at the Department of Neurology,the Affiliated Hospital of Qingdao University were enrolled retrospectively.The overall burden of CSVD was evaluated according to MRI findings.The National Institute of Health Stroke Scale (NIHSS) was used to evaluate theseverity of stroke.The modified Rankin scale (mRS) was used to evaluate the outcomes at day 90 after the onset.The mRS score 0-2 was defined as good outcome,and ＞2 was defined as poor outcome.Results A total of 148 patients with LAA stroke were enrolled,including good outcome in 72 (48.65％) and poor outcome in 76 (51.35％).There were significant differences in the proportions of hypertension (69.44％ vs.85.52％;x2 =5.519,P =0.019),taking antihypertensive drugs before the onset (48.61％ vs.69.74％;x2 =6.845,P =0.009),white matter hyperintensity (18.06％ vs.39.47％;x2 =8.228,P =0.004),enlarged perivascular space (33.33％ vs.60.53％;x2 =10.968,P =0.001),as well as the baseline NIHSS scores (3.00 [2.00-4.00] vs.7.0 [5.0-10.0];Z =-8.159,P =0.001),baseline systolic blood pressure (149.40± 15.80mmHgvs.157.21± 14.05mmHg;t=3.180,P=0.002;1 mmHg=0.133 kPa),fasting glucose (5.91 ±2.06 mmol/L vs.6.92 ±2.65 mmol/L;t =2.595,P =0.010),and the proportions of total CSVD scores 0,1,2,3,and 4 (Z =-4.927,P =0.001) between the 2 groups.After adjustment for the confounding factors,such as hypertension and fasting glucose,multivariate regression analysis showed that the total CSVD score (odds ratio 4.457,95％ confidence interval 1.768-11.236;P =0.002) and baseline NIHSS score (odds ratio 2.070,95％ confidence interval 1.580-2.710;P ＜ 0.001)were the independent risk factors for the poor outcomes in patients with LAA stroke.Conclusions The total CSVD burden was closely associated with the outcomes in patients with LAA stroke.Higher CSVD total score and baseline NIHSS scores were independently associated with the poor outcome at 90 d in patients with LAA stroke.