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..

Stroke has characteristics of high incidence, disability, mortality and recurrence rates. Ischemic stroke (IS) is the most prevalent type of stroke. Early management of risk factors associated with IS, such as cholesterol level, has a beneficial impact on improving long-term prognosis. Proprotein converting enzyme subtilin kexin type 9 (PCSK9) is a circulating enzyme that regulates low density lipoprotein receptor (LDLR), and PCSK9 inhibitor can reduce serum low density lipoprotein cholesterol by blocking the PCSK9 binding to LDLR; therefore, PCSK9 inhibitor, as a new type of lipid-lowering drug, shows great potential in IS prevention and treatment. This article summarizes the physiological functions of PCSK9, clinical application of PCSK9 inhibitor and role of PCSK9 inhibitor in IS pathologic, aiming to offer novel suggestions for improving short-term and long-term prognoses of individuals with IS.

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.

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.

Objective At present, the risk factors for cognitive impairment in epilepsy patients are not quite clear.This study was to explore the impacts of the clinical features, emotional health and quality of life (QOL) on the cognitive function of the adult patients with mild cognitive impairment (MCI).Methods Using the Montreal Cognitive Assessment (MoCA) and Mini Mental State Examination (MMSE) scales, we evaluated the cognitive functions of the 109 adult epileptics of the outpatient clinic of neurology in Jinling Hospital.We assessed their emotional health with Hamilton Depression Scale-24 (HAMD-24), estimated their QOL with Quality Of Life in Epilepsy-31 (QOLIE-31), and collected their baseline clinical data by questionnaire survey.Results There were 67 cases of MCI (61.5%) among the 109 patients.The residential area was the strongest predictor of MCI in the adult epileptics (OR=0.226, 95% CI: 0.082-0.627).Among other risk factors of post-epileptic MCI were the total scores of HAMD-24 (OR=0.770, 95% CI: 0.644-0.921) and QOLIE-31 (OR=0.712, 95% CI: 0.575-0.880), QOL (OR=1.070, 95% CI: 1.015-1.128), cognitive function (OR=1.120, 95% CI: 1.043-1.203), and social function (OR=1.103, 95% CI: 1.035-1.175).Conclusion The incidence of MCI is high in adult patients with epilepsy.The development and progression of post-epileptic MCI can be delayed by more emphasis on the evaluation of cognitive function, emotional health, and quality of life.

Objective Ischemic stroke with elevated serum immunoglobulin E ( IgE) in some young patients is regarded as cerebral vasculitis clinically though without sufficient pathological evidence .This study was to investigate the characteristics of vascular lesions in these patients by temporal artery biopsy . Methods We performed histopathologic examinations on the temporal arteries of 32 young ischemic stroke patients with unknown etiology , 16 with normal and the other 16 with elevated serum IgE .We observed inflammatory cells infiltration and mast cells by HE staining and toluidine blue stai-ning respectively and determined the expressions of matrix metalloproteinase -9 (MMP-9), monocyte chemotaxis protein -1 (MCP-1) and serum IgE by immunohistochemistry . Results Compared with the patients with normal IgE , those of the elevated IgE group showed a significantly higher rate of inflammatory cells infiltration (12.5%vs 62.5%, P<0.01), with 1 case of focal necrosis and fi-brinous exudation in the adventitia in the latter group .The average optical density ( OD) of monocyte chemotaxis protein-1 ( MCP-1) in the temporal artery was also dramatically higher in the elevated IgE group than in the normal controls ([9.25 ±5.79] ×10 -5 vs [4.41 ±2.87] ×10 -5, P<0.01).The average OD of matrix metalloproteinase 9 (MMP-9) and intima-media thickness were both increased in the elevated IgE group ([32.79 ±21.38] ×10 -4 and [0.25 ±0.06] mm) but showed no statistically significant differ-ence from those in the normal IgE group ([25.23 ±12.78] ×10 -4 and [0.22 ±0.06] mm) (both P>0.05).Nor was any signifi-cant difference observed in the number of the mast cells between the normal and elevated IgE groups (2.8 ±1.5 vs 3.6 ±2.3, P>0.05). Conclusion The infiltration and necrosis of inflammatory cells and fibrin exudation in the temporal artery of the young pa-tient with elevated serum IgE are likely to be the manifestations of vasculitis , and MCP-1 may play a role in the pathogenesis of the disease.

Vertebrobasilar dolichoectasia (VBD) as a distinct arterial disease is not rare.Posterior circulation cerebral infarction was one of the most frequent events and the primary cause of death in patients with VBD.The clinicoradiologic features and the pathophysiological mechanism of ischemic stroke in VBD remained unclear and required further investigation.We aimed to provide a review of advanced studies.

Kallikrein-kinin system consists of kininogen , kallikrein, bradykinin and kinin .Kinins, derived from kininogen by tissue kallikrein , play their biological effects via bradykinin 1/2 receptors or protease activated receptors .Existing researches suggest that kinins exert various effects through different intracellular and mitochondrial signal pathways such as MAPK , PI3K/Akt/GSK3 be-ta, NO, JAKs/STATs.This review aims to elucidate the roles and the intracellular signal pathways of KKS in different diseases .

Objective There is little research focusing on the expression and function of bradykinin 1 receptor ( B1R ) and bradykinin 2 receptor ( B2R) after cerebral ischemia/reperfusion on the basis of diabetes .The aim of this study was to compare the ex-pression difference and function change of B 1R and B2R in non-dia-betic and diabetic rats . Methods The cerebral ischemia/reperfu-sion model was established on 41 non-diabetic and type 2 diabetic rats, the weight and the biochemical index were measured on these two types of rats .8 non-diabetic rats and 8 diabetic rats were respec-
tively assigned to two groups according to random number tables:control group and I/R 24 h group, 4 in each group.Real-time PCR was performed to observe the expressions of two receptors at 24 h after reperfusion .Then, 33 non-diabetic rats and 33 diabetic rats were randomly divided into 4 groups respectively, including sham group (n=6), saline group (n=9), B1R antagonist group (n=9) and B2R antagonist group (n=9).At 24 hours after cerebral I/R, neurological deficiency was evaluated by neurological severity scores ( NSS);infarct volume was observed by TTC staining;cell apoptosis was determined by TUNEL staining;neuron degeneration was de-tected by Fluoro-Jade C staining. Results Glucoses of diabetics at 3, 7, 14 d after model establishment [(23.45 ±5.01), (23.71 ±4.87), (22.72 ±4.11) mmol/L] were obviously elevated compared with non-diabetics [(5.77 ±0.75), (6.05 ±0.69), (7.15 ±1.09) mmol/L];blood cholesterin [(4.59 ±3.43) mmol/L] and insulin [(67.26 ±12.02) pmol/L] at 14 d after model establishment were evidently incresaed in comparison to those in non-diabetics [(1.58 ±0.37) mmol/L, (25.34 ±4.88) pmol/L] (P<0.05), while no significant difference was found in the blood triglyceride of diabetics between them (P>0.05).Compared with non-diabetics, diabetics suffered from more apparent up-regulation of B1R mRNA (P<0.01) but relatively less B2R mRNA (P<0.05) at 24 h after I/R.NSS score, infarction volume, damaged and apoptotic cells in B2R antagonis-treated non-diabetic rats at 24 h after I/R conspicuously decreased compared with saline-treated non-daibetic rats.Those indicators in B1R antagonis-treated diabeics were strikingly lessened compared with saline-treated daibetics . Conclusion I/R induced distinct up-regulation of B2R mRNA in non-diabetics and inhibiton of B 2R effectively ameliorated the infarct volume and cell injury after I/R in non-diabetics; I/R induced more notable up-regulation of B1R mRNA in diabetics and B1R antagonist exerted neuroprotective effects instead of B 2R antagonist af-ter I/R in diabetics.