Objective:To explore the genetic and clinical characteristics of epilepsy related with ATP6V1A gene heterozygous variants.Methods:A case series study was conducted. The clinical data of 10 children of epilepsy associated with ATP6V1A gene variants who were admitted to the Children′s Medical Center, Peking University First Hospital from January 2019 to December 2024 was collected. The characteristics of children′ gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among the 10 children, there were 4 boys and 6 girls. All 10 children with ATP6V1A gene variants were de novo heterozygous variants, including 1 case of mosaic variant. A total of 9 different variants were identified and 7 variants have not been reported previously. The age at epilepsy onset was 28 (9, 48) months. Five children experienced their first seizure as a fever induction. The types of epileptic seizures included focal seizures in 6 children, epileptic spasms in 5 children, tonic spasms and atonic seizures in 1 child respectively. Three children had 2 seizure types. Global developmental delays were exhibited in 8 children, 2 of whom manifested autism spectrum disorder phenotypes. Two children showed normal development. Electroencephalography revealed slowed background activity in 5 children. Interictal epileptiform discharges were recorded in 9 cases, including hypsarrhythmia, focal, multifocal or generalized discharges. Clinical seizures were captured in 4 children. Brain magnetic resonance imaging abnormalities were found in 4 children, including frontotemporal cortical dysplasia, prominent sulci, delayed myelination of white matter, dysplasia of the corpus callosum, bilateral ventricular enlargement, and cerebral atrophy. Five children were diagnosed with developmental and epileptic encephalopathy (DEE), and 4 of them were diagnosed with infantile epileptic spasms syndrome. At the last follow-up, the age was 78 (25, 120) months. Seizures were controlled in 6 children, while 4 children had uncontrolled seizures despite treatment with ≥3 anti-seizure medications. Conclusions:All children with ATP6V1A gene related epilepsy harbored de novo heterozygous missense variants, with few showing mosaic variants. Seizure onset age ranged widely from the neonatal period to childhood. The predominant seizure types were focal seizures and epileptic spasms. The phenotypic spectrum may exhibit DEE, while a minority maintain normal development.

Objective:To explore the genetic and clinical characteristics of epilepsy related with ATP6V1A gene heterozygous variants.Methods:A case series study was conducted. The clinical data of 10 children of epilepsy associated with ATP6V1A gene variants who were admitted to the Children′s Medical Center, Peking University First Hospital from January 2019 to December 2024 was collected. The characteristics of children′ gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed.Results:Among the 10 children, there were 4 boys and 6 girls. All 10 children with ATP6V1A gene variants were de novo heterozygous variants, including 1 case of mosaic variant. A total of 9 different variants were identified and 7 variants have not been reported previously. The age at epilepsy onset was 28 (9, 48) months. Five children experienced their first seizure as a fever induction. The types of epileptic seizures included focal seizures in 6 children, epileptic spasms in 5 children, tonic spasms and atonic seizures in 1 child respectively. Three children had 2 seizure types. Global developmental delays were exhibited in 8 children, 2 of whom manifested autism spectrum disorder phenotypes. Two children showed normal development. Electroencephalography revealed slowed background activity in 5 children. Interictal epileptiform discharges were recorded in 9 cases, including hypsarrhythmia, focal, multifocal or generalized discharges. Clinical seizures were captured in 4 children. Brain magnetic resonance imaging abnormalities were found in 4 children, including frontotemporal cortical dysplasia, prominent sulci, delayed myelination of white matter, dysplasia of the corpus callosum, bilateral ventricular enlargement, and cerebral atrophy. Five children were diagnosed with developmental and epileptic encephalopathy (DEE), and 4 of them were diagnosed with infantile epileptic spasms syndrome. At the last follow-up, the age was 78 (25, 120) months. Seizures were controlled in 6 children, while 4 children had uncontrolled seizures despite treatment with ≥3 anti-seizure medications. Conclusions:All children with ATP6V1A gene related epilepsy harbored de novo heterozygous missense variants, with few showing mosaic variants. Seizure onset age ranged widely from the neonatal period to childhood. The predominant seizure types were focal seizures and epileptic spasms. The phenotypic spectrum may exhibit DEE, while a minority maintain normal development.

Objective: To explore the anatomy and clinical application of stepladder V-Y advanced flaps based on the lateral calcaneal artery perforator. Methods: Twenty-four lower extremities from 12 adult cadavers were dissected to investigate the perforators emerging along the lateral edge of the achilles tendon, in terms of amount and distribution, relative to the tip of the lateral malleolus. Based on the anatomical findings, stepladder V-Y advanced flaps, based on the perforator(s) of the lateral calcaneal artery (LCA) or the peroneal artery (PA), were used for reconstruction of lower-posterior heel defects in 22 cases. Results: Twenty-four lower extremities from 12 adult cadavers were successfully dissected. The peroneal artery continued to be the lateral calcaneal artery at the level of (6.0±1.4) cm above the tip of the lateral malleolus. Both of them have the perforators distributed to the skin in the achilles tendon area. In the space from the tip of the lateral malleolus to 8.0 cm and above, a total of 71 perforators with diameter larger than 0.5 mm were found in all extremities. Among them, 9%(7/71) were originated from peroneal artery, and 91%(64/71) were the lateral calcaneal artery. In the 22 cases of clinical application, the pedicle of flaps were used, based on the perforator of lateral calcaneal artery and (or) peroneal artery. The size of flaps ranged from 3.5 cm×9.0 cm to 5.0 cm×10.0 cm.There were 3 cases of skin necrosis at the tip of the flap, which were healed after dressing change. The other flaps had completely survived, and the wound healed in the first stage. Follow-up last for 8-24 months after operation. All patients had well recovery of ankle flexion, extension and appearance. They were able to weight-bearing walk, with natural gait. The texture and sensation of the flaps were similar to that of the surrounding skin. There were few obvious scar or contracture deformity. The functional recovery was satisfied. Conclusions The blood supply in the achilles tendon region is mainly from the lateral calcaneal artery, and partly from the peroneal artery. Stepladder V-Y advanced flap based on the lateral calcaneal artery perforator can be used with reliable blood supply and sensation reconstruction, which is a good choice to repair small to medial wounds in heel area.

Having high-contrast resolution of soft tissue and high temperature sensitivity, MRI is particularly suitable for guiding percutaneous cryoablation. With the development of MR real-time monitoring technology and MR compatibility technology of interventional devices, MR-guided percutaneous cryoablation (MRI-PCA) has made certain progress in the treatment of malignancies, and the curative effect is remarkable. The development and advantages of MRI-PCA, the mechanisms of cryoablation and the clinical application of MRI-PCA in tumor were reviewed in this article.

BACKGROUND: Continuous blood purification can remove cytokines and inflammatory mediators, maintain homeostasis and prevent the occurrence of multiple organ dysfunction syndrome in patients with severe pancreatitis, which has become the main therapy for severe pancreatitis. Since the hemodialysis technology began to be applied clinical y, the biological and physicochemical properties of hemodialysis membrane materials have been studied. A variety of hemodialysis membranes have been developed in order to improve the biocompatibility and anticoagulant effect in vitro. OBJECTIVE: To investigate the application effect of hemodialysis membranes on severe pancreatitis. METHODS: Ten Wistar rats were selected to make rat models of severe pancreatitis and then were randomized into two groups (n=5 per group): homophone membrane group and polysulfone membrane group. Hemodialysis- related biochemical parameters were detected in the two groups. RESULTS AND CONCLUSION: Compared with the homophone membrane, ultrafiltration coefficient, creatinine clearance, blood urea nitrogen clearance, phosphorus clearance, number of circulating endothelial cel s, and levels of plasma nitric oxide and asymmetric dimethylarginine were significantly lower in the polysulfone membrane group (P < 0.05). Vitamin B12 clearance and amount of pre-congestion increased significantly in the polysulfone membrane group as compared with the homophone membrane (P < 0.05). These findings indicate that the polysulfone membrane for hemodialysis has good biocompatibility, and keeps a stable environment in vivo for severe pancreatitis patients.

Objective To investigate the value of detections of anti‐nuclear antibody (ANA) combined with anti‐cardiolipin anti‐body (ACA) ,anti‐sperm antibody (AsAb) and anti‐beta 2 glycoprotein I (β2 GPI) antibody in the diagnosis of female infertility dis‐ease .Methods A total of 187 female cases of infertility (infertility group) were detected serum ANA and AsAb by the indirect im‐munofluorescence assay ,and ACA andβ2 GPI antibody by the enzyme linked immunosorbent assay (ELISA) .ANA ,ACA ,AsAb andβ2 GPI antibody also were detected in 80 females cases of normal fertility (normal group) .Results Among 187 cases of female infer‐tility ,ANA positive rate was 18 .1% (34/187) and which in the normal group was 2 .5% (2/80) .The ACA positive rate was 22 .3%(43/187) in the infertility group and 5 .0% (4/80) in the normal group ;the AsAb positive rate was 18 .7% (35/187) in the infertil‐ity group and 3 .8% (3/80) in the normal group ;theβ2 GPI positive rate was 20 .3% (38/187) in the infertility group and 3 .8% (3/80) in the normal group;the differences between the two groups had statistical significance (P<0 .05) .Conclusion Infertility is closely correlated with the in vivo existence of ANA ,ACA ,AsAb andβ2 GPI antibody ,the joint detection is conducive to find the e‐tiology of infertility and improve the clinical diagnosis rate .

Objective To explore the effect of one-piece shoulder pillow on patients suffering from shoulder pain and skin erubescence during gynecological laparoscopy with lithotomy position and trendelenburg position. Methods Two hundred and six patients who underwent gynecological laparoscopic operation were divided into control and experiment groups according to cardinal or even number of registration. The patients in both groups were set in lithotomy position and trendelenburg position during the operation, with the difference in the use of a common shoulder pillow for support in the control group but no use in the experiment one. On-position time and incidence rate of shoulder pain and skin erubescence were compared between two groups. Result The sholder pain and skin erubescence were less than those of control group (P < 0.05). Conclusion Use of one-piece shoulder pillow can reduce the incidence rates of shoulder pain and skin erubescence after gynecological laparoscopic operation with lithotomy position and trendelenburg position.

Objective To evaluate the values of gastrin‐releasing peptide (pro‐GRP) and neuronspecific enolase (NSE) in differ‐ential diagnosing of small cell lung cancer (SCLC) .Methods Serum samples from 120 SCLC patients ,130 non‐small cell lung canc‐er (NSCLC) ,80 Patients with benign lung disease and 90 healthy donors were collected to detect the level of pro‐GRP and NSE .All data were analyzed by SPSS13 .0 and then we analyzed the serum level and positive rates of the two tumor markers .ROC was gener‐ated by GraphPad Prism 5 .Results The expression level of pro‐GRP and NSE in SCLC group were significant higher than NSCLC group、benign lung disease group and healthy donors group (P<0 .05) .The positive rates of pro‐GRP in SCLC were higher than the other three groups (P<0 .05) .However ,there had no significant difference between SCLC group and NSCLC group in the posi‐tive rates of NSE(P>0 .05) .ROC area under curve of pro‐GRP ,NSE and both were 0 .890 ,0 .810 and 0 .915 ,separately .Conclusion The tumor biomarker of NSE could only identify of benign and malignant lung diseases ,but can not identify the type of lung canc‐er including SCLC and NSCLC ;Nonetheless the tumor biomarker of pro‐GRP could not only identify benign and malignant lung dis‐eases ,but also identify the pathological type of SCLC and NSCLC ;Combined determination of pro‐GRP and NSE had significant values for the differential diagnosis of SCLC .

Objective To explore the general anesthetic EI on the rat fetal neural stem cell proliferation(NSCs) and the role played by JNK in the influence. Methods The cultured rat fetal NSCs were randomly divided into 6 groups (n=8 each):normal group (group N);fat milk group (group F);EI groups(including 8. 12,9. 80,12. 04 mmol/L EI) , 9. 80 mmol/L EI group+20 μmol/L SP600125 group ( group EISP) . After incubated for 12 hours, the cellular effects of EI and cell viability were evaluated by MTT reduction assay. The apoptotic rate of the rat NSCs were determined by flow cytometry, and the expression of protein Caspase-3 was observed by Western blot. Results There was no statistical difference in cell viability, apoptotic rate and protein expression of Caspase-3 in group N and group F. EI group had higher cell apoptotic rate(P<0. 01), protein expression of Caspase-3 (P<0. 05 ) , but lower cell viability than group N ( P<0. 01 ) . And significant differences were found between three do-ses of EI groups (P<0. 05). Compared with EI group, lower cell apoptotic rate (P<0. 01), protein expression of Caspase-3 but higher cell viability were observed in group EISP ( P<0. 05 ) . Conclusion JNK plays an important role in EI-induced cytotoxicity possibly in a dose-dependent manner.