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..

Hypercholesterolemia is a significant risk factor for the development of atherosclerosis. 2',3',5'-Tri-O-acetyl-N ⁶-(3-hydroxyphenyl) adenosine (IMM-H007), a novel AMPK agonist, has shown protective effects in metabolic diseases. However, its impact on cholesterol and triglyceride metabolism in hypercholesterolemia remains unclear. In this study, we aimed to elucidate the effects and specific mechanisms by which IMM-H007 regulates cholesterol and triglyceride metabolism. To achieve this goal, we used Apoe ^-/- and Ldlr ^-/- mice to establish a hypercholesterolemia/atherosclerosis model. Additionally, hepatocyte-specific Ampka1/2 knockout mice were subjected to a 5-week high-cholesterol diet to establish hypercholesterolemia, while atherosclerosis was induced via AAV-PCSK9 injection combined with a 16-week high-cholesterol diet. Our results demonstrated that IMM-H007 improved cholesterol and triglyceride metabolism in mice with hypercholesterolemia. Mechanistically, IMM-H007 modulated the AMPKα1/2-LDLR signaling pathway, increasing cholesterol uptake in the liver. Furthermore, IMM-H007 activated the AMPKα1-FXR pathway, promoting the conversion of hepatic cholesterol to bile acids. Additionally, IMM-H007 prevented hepatic steatosis by activating the AMPKα1/2-ATGL pathway. In conclusion, our study suggests that IMM-H007 is a promising therapeutic agent for improving hypercholesterolemia and atherosclerosis through the activation of AMPKα.

With the continuous evolution of minimally invasive surgical concepts,operative techniques are progressively advancing from"minimal injury"toward"scarless"approaches.Super-minimally laparoscopic surgery(SMLS)is a novel surgical modality developed on the basis of conventional laparoscopic techniques through the innovation and recombination of operative elements,aiming to achieve smaller trauma and improved cosmetic outcomes.Utilizing the umbilical skin fold as a natural scar-concealing site,SMLS establishes no more than two primary operating channels(maximum diameter≤15 mm),supplemented by auxiliary ports≤2 mm in diameter on the abdominal wall.Combined with innovative separable surgical instruments and high-definition visualization systems,this approach provides a systematic solution to key issues such as residual access-site scarring.This review summarizes the development,technical innovations,current clinical applications,and potential aesthetic value of SMLS in the evolution of minimally invasive surgery,aiming to offer theoretical insights and research reference for its future promotion and technical refinement.

Objective To study the 50％effective dose(ED50)and ED95 of remimazolam in the induc-tion of general anesthesia in preschool children,and to observe its safety and efficacy.Methods Children un-dergoing elective surgery who received endotracheal intubation and general anesthesia from March to October 2024 were selected as the research objects.The ED50 and ED95 of remimazolam were calculated by the modified sequential method.On this basis the additional,the aditional 68 subjects were randomly divided into the remimazolam group(group R,n=34)and the propofol group(group P,n=34).The respiratory rate(RR)and bispectral index(BIS)before induction(T0),1 min(T1)and 3 min(T2)after administration of remima-zolam or propofol in each group were recorded,and the oxygen saturation(SpO2),heart rate(HR)and mean arterial pressure(MAP)at T0,T1,T2,and 1 min after tracheal intubation(T3)were recorded.The success rate of sedation induction,hemodynamic stability and the incidence of adverse reactions such as injection pain,bradycardia,hypotension and panic during induction were compared between the two groups.Results Probit regression analysis showed that the ED50 of remimazolam for inducing loss of consciousness in preschool chil-dren was 0.414 mg/kg,95％CI:0.381-0.448,and the ED95 was 0.474 mg/kg,95％CI:0.443-0.826.The success rate of sedation induction in both groups was 100％.The disappearance time of eyelash reflex in group R was(59.44±5.24)s,which was longer than(29.79±4.04)s in group P(P＜0.001).The RR and BIS of group R at T1 and T2 were higher than those of group P,and the HR and MAP of group R at T1,T2 and T3 were also higher than those of group P(P＜0.05).The incidence of injection pain,bradycardia and hypoten-sion in group R was lower than that in group P(P＜0.05).There was 1 case of panic in group R.Conclusion The ED50 and ED95 of remimazolam for loss of consciousness during general induction in preschool children are 0.414 mg/kg and 0.474 mg/kg respectively.It has a definite sedative effect,stable hemodynamics and a low incidence of adverse reactions for the induction of general anesthesia in this population,demonstrating its suit-ability for clinical use.

Objective To investigate the effect of early closed reduction and percutaneous Kirschner wire pinning for Gartland type Ⅱ and Ⅲ pediatric supracondylar humerus fractures.Methods Clinical data of 123 children with Gartland type Ⅱ and Ⅲsupracondylar humerus fractures admitted to our hospital from January 2021 to December 2022 were retrospectively analyzed.According to the time from injury to operation,they were divided into early group(≤ 24 h)and delayed group(＞24 h).The perioperative conditions,postoperative complications,fracture healing,and elbow joint functional recovery were compared between the two groups.Results Compared to the delayed group,the early group had less operation time[(22.9±11.3)min vs.(40.3±17.5)min,t=-6.116,P=0.000],less number of intraoperative fluoroscopy[(10.6±4.5)times vs.(17.4±5.5)times,t=-7.471,P=0.000],shorter hospital stay[(3.3±1.0)d vs.(4.2±1.3)d,t=-3.866,P=0.000],and less hospitalization cost[(10 555.0±971.2)yuan vs.(10 972.4±938.9)yuan,t=-2.345,P=0.021].The rate of anatomical reduction in the early group was higher than that in the delayed group[79.0％(60/76)vs.59.6％(28/47),x2=5.354,P=0.021].No serious complications such as vascular and nerve injury,compartment syndrome,ischemic myosclerosis,myositis ossificans,or cubitus varus and valgus occurred in both group after surgery.The incidences of tension blisters[6.6％(5/76)vs.23.4％(11/47),x2=7.265,P=0.007],plaster loosening[22.4％(17/76)vs.40.4％(19/47),x2=4.574,P=0.032],and pin tract infection[2.6％(2/76)vs.14.9％(7/47),x2=4.757,P=0.029]in the early group were lower than those in the delayed group.The fracture union time,and the time to start active and full weight-bearing activities in the early group were earlier than those in the delayed group(P＜0.05).The Flynn elbow joint scores at 3 and 6 months after surgery in the early group were better than those in the delayed group(Z=-3.469,P=0.001;Z=-2.961,P=0.003).Conclusion Early closed reduction and percutaneous Kirschner wire pinning is effective in the treatment of pediatric supracondylar humerus fractures,which can shorten the operation time and hospital stay,reduce the hospitalization cost,lower the incidence of complications,and restore elbow joint function in early stage.

With the continuous evolution of minimally invasive surgical concepts,operative techniques are progressively advancing from"minimal injury"toward"scarless"approaches.Super-minimally laparoscopic surgery(SMLS)is a novel surgical modality developed on the basis of conventional laparoscopic techniques through the innovation and recombination of operative elements,aiming to achieve smaller trauma and improved cosmetic outcomes.Utilizing the umbilical skin fold as a natural scar-concealing site,SMLS establishes no more than two primary operating channels(maximum diameter≤15 mm),supplemented by auxiliary ports≤2 mm in diameter on the abdominal wall.Combined with innovative separable surgical instruments and high-definition visualization systems,this approach provides a systematic solution to key issues such as residual access-site scarring.This review summarizes the development,technical innovations,current clinical applications,and potential aesthetic value of SMLS in the evolution of minimally invasive surgery,aiming to offer theoretical insights and research reference for its future promotion and technical refinement.

Objective To investigate the effect of early closed reduction and percutaneous Kirschner wire pinning for Gartland type Ⅱ and Ⅲ pediatric supracondylar humerus fractures.Methods Clinical data of 123 children with Gartland type Ⅱ and Ⅲsupracondylar humerus fractures admitted to our hospital from January 2021 to December 2022 were retrospectively analyzed.According to the time from injury to operation,they were divided into early group(≤ 24 h)and delayed group(＞24 h).The perioperative conditions,postoperative complications,fracture healing,and elbow joint functional recovery were compared between the two groups.Results Compared to the delayed group,the early group had less operation time[(22.9±11.3)min vs.(40.3±17.5)min,t=-6.116,P=0.000],less number of intraoperative fluoroscopy[(10.6±4.5)times vs.(17.4±5.5)times,t=-7.471,P=0.000],shorter hospital stay[(3.3±1.0)d vs.(4.2±1.3)d,t=-3.866,P=0.000],and less hospitalization cost[(10 555.0±971.2)yuan vs.(10 972.4±938.9)yuan,t=-2.345,P=0.021].The rate of anatomical reduction in the early group was higher than that in the delayed group[79.0％(60/76)vs.59.6％(28/47),x2=5.354,P=0.021].No serious complications such as vascular and nerve injury,compartment syndrome,ischemic myosclerosis,myositis ossificans,or cubitus varus and valgus occurred in both group after surgery.The incidences of tension blisters[6.6％(5/76)vs.23.4％(11/47),x2=7.265,P=0.007],plaster loosening[22.4％(17/76)vs.40.4％(19/47),x2=4.574,P=0.032],and pin tract infection[2.6％(2/76)vs.14.9％(7/47),x2=4.757,P=0.029]in the early group were lower than those in the delayed group.The fracture union time,and the time to start active and full weight-bearing activities in the early group were earlier than those in the delayed group(P＜0.05).The Flynn elbow joint scores at 3 and 6 months after surgery in the early group were better than those in the delayed group(Z=-3.469,P=0.001;Z=-2.961,P=0.003).Conclusion Early closed reduction and percutaneous Kirschner wire pinning is effective in the treatment of pediatric supracondylar humerus fractures,which can shorten the operation time and hospital stay,reduce the hospitalization cost,lower the incidence of complications,and restore elbow joint function in early stage.

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 explore the feasibility, safety and clinical application value of laparoscopic radical rectal cancer surgery with natural orifice specimen extraction (NOSE) by comparing the postoperative pathological data, surgery-related variables and postoperative recovery between laparoscopic radical rectal cancer surgery with NOSE and laparoscopic-assisted radical rectal cancer surgery. 【Methods】 A retrospective analysis was conducted on 74 patients who underwent radical rectal cancer surgery with anus preservation in the Department of General Surgery of The First Affiliated Hospital of Xi’an Jiaotong University from July 2017 to April 2022. Among them, 38 cases underwent surgery with specimen extraction through an abdominal auxiliary incision (auxiliary incision group), and 36 cases underwent surgery with specimen extraction through a natural orifice (NOSES group). The differences in the efficacy of the two surgeries were evaluated by comparing the postoperative pathological data, surgical variables, and postoperative recovery of the two groups. 【Results】 There were no statistically significant differences in general data and postoperative pathological data between the two groups (all P>0.05). The NOSES group exhibited significantly shorter operative time, time to first flatus, time to first oral intake postoperatively, and postoperative hospital stay compared to the auxiliary incision group (all P<0.05). However, there were no statistically significant differences in intraoperative blood loss, postoperative complications, and whether secondary surgeries were performed (all P>0.05). 【Conclusion】 Laparoscopic surgery with NOSE for rectal cancer is safe and feasible with minimally invasive and accelerated recovery, which is worth promoting and applying in clinical practice.

Objective:To evaluate the clinical outcomes of neutral wedge osteotomy assisted by determination of the center of rotation of angulation (CORA) at the distal humerus anatomical axis for cubitus varus deformity in children.Methods:From 2016 to December 2019, 20 children with cubitus varus after supracondylar fracture of the humerus were treated at Department of Orthopeadics, Children's Hospital of Wujiang District. They were 8 boys and 12 girls, aged from 4 to 12 years (average, 7.0 years). Standard anteroposterior X-ray films of bilateral humerus were taken preoperatively for measurement of Baumann angle, proximal anatomical axis (PAA) and distal anatomical axis (DAA) of bilateral humerus to determine the CORA and the varus deformity angle. A lateral closed neutral wedge osteotomy was performed around the CORA to correct the varus deformity. All children were immobilized with elbow plaster cast after operation. Elbow flexion and extension function, postoperative scar, and body surface carrying angle were recorded. The carrying angle and Baumann angle were also measured on elbow X-ray films. Elbow function was evaluated according to the modified Flynn elbow score at 24 months after operation.Results:All patients were followed up for 24 to 36 months (mean, 29.3 months). Elbow hyperextension was close to normal in 18 cases, and 5° hyperextension existed in 2 cases. The flexion was greater than 130°, averaging 133.1° (from 130° to 138°), in 15 patients. The flexion ranged from 110° to 130° in 5 patients. The Baumann angle was 99.0°±1.0° preoperatively and 76.0°±1.0° postoperatively; the carrying angle was -14.0°±1.0° preoperatively and 13.6°±1.0° postoperatively. There were significant differences between the above items between preoperation and postoperation ( P<0.05). According to the modified Flynn elbow score at 24 months after operation, the elbow function was excellent in 16 and good in 4 cases. The varus of 40° was corrected during surgery in one child. Fixation failure or correction failure occurred in none of the children before removal of the plaster or the Kirschner wire. Conclusions:In neutral wedge osteotomy assisted by determination of the CORA at the distal humerus anatomical axis, the CORA and angulation of the distal humerus inversion can be accurately determined so that the osteotomy line and the angulation correction axis can pass through the CORA to restore the humerus alignment with no displacement of the broken ends.