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 evaluate the effect of adding platelet GPⅡb/Ⅲa receptor inhibitor (A adjuvant) into the Batroxobin cup (A cup) on the accuracy of the thromboelastogram (TEG) platelet aggregation function test using the functional fibrinogen (function fiber cup) test results as a standard. 【Methods】 From December 2019 to May 2020, 100 (persons) whole blood samples were collected from patients who visited the Department of Neurology, Department of Cardiology, Department of General Affairs and Department of Rehabilitation of our hospital for TEG platelet aggregation function test, and the blood standard samples were divided into MA <25 mm group (n=50) and MA≥25 mm group (n=50) according to the A-cup blood clot intensity (MA) value (mm) measured by TEG, the two groups were subdivided into A cup group (n=50, respectively), A auxiliary group (adding A auxiliary in A cup) (n=50, respectively), and functional fiber cup group (n=50, respectively), each subgroup was tested once again. The linear correlation, platelet inhibition and the consistency of drug efficacy interpretation results in platelet Adenosine diphosphate (ADP) and Arachidonic acid (AA) pathway respectively between the three subgroups were compared. 【Results】 (1) In the MA<25mm group, the inhibition rates of ADP and AA pathway in platelet of A cup, A adjuvant and functional fibrin cup subgroups were (32.00±17.44) % vs (30.19±17.44) % vs (30.07±16.18) %, (24.3±33.53) % vs (22.53±30.9) % vs (22.37±31.2) %, respectively (R² were all>0.975); (2) In the MA≥25 mm group, the inhibition rates of ADP and AA pathway in platelet of A cup, A adjuvant and functional fibrin cup subgroups were (34.34±33.59) % vs (18.45±24.42) % vs (18.01±24.33) %, (23.19±39.33) % vs (8.48±21.75) % vs (8.31±21.7) % ( R² between the A cup group and the A adjuvant group were all<0.8, and R2 between the A adjuvant group and the functional fibrinogen cup group were all >0.975); (3)Take the test result of the functional fibrinogen cup as the standard, the correct rates of ADP and AA pathway drug efficacy interpretation were 82% (41/50) vs 100% (50/50) and 84% (42/50) vs 100% (50/50) respectively (P<0.05) between the A-cup group and the A adjuvant group, while the interpretation results of drug efficacy of the two pathway were consistent between the A adjuvant group and the functional fibrin cup group (P>0.05). 【Conclusion】 Adding A adjuvant to TEG platelet aggregation function test can effectively inhibit non-specifically activated platelets in the A cup in the detection of platelet aggregation function, truly reflect the function of fibrinogen and improve the accuracy of platelet inhibition rate.

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.

Objective To observe the anatomy of the radial proper digital arteries and their dorsal vessels of index fingers, and the relative position and orientation of them were summarized. To explore the surgical method and clinical appilication of the stepladder advancement flap pedicled with the radial proper digital artery of index finger in the finger tip defects. Methods From June, 2013 to June, 2016, 6 hand specimens were injected into the brachial artery with red latex to carry out the microanatomy of the index finger’s radial proper digital arteries and their dorsal vessels. And 1 vascular cast of hand specimen were observed the origin, number and oriention of the artery and its dorsal vessel. Ten cases with soft tissue defects of index finger in finger tip, were repaired with stepladder advance-ment flap pedicled with the radial proper digital artery. The evaluations and analysis were made in survival rate and finger's function by the postoperative regular consultations. Results There were 2 (4 hands) or 3 (2 hands) dorsal vessels in the proximal, and 2(6 hands) in middle segments of the radial proper digital arteries of index fingers in 6 hand specimens respectively. While the vascular cast of hand specimen showed that 3 dorsal vessels in the proximal, and 2 in the middle segments of the radial proper digital artery. Ten patients were performed the operation. The blood flow after the surgery were good and all flaps survived well. Followed-up time was 10-14 months. The color, feeling, contour and texture of flaps was good. The function of flexion and extension of the finger was good too, and no defor-mity of the purlicue. The resolution of static two points was 5.5-9.0 mm, averaged of 7.2 mm. Conclusion The stepladder advancement flap pedicled with the radial proper digital artery of index finger can extend the donor site. It is safe, reliable and effective, providing a alternation for the repair of the soft tissue defects of the index finger tip.

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.