Objective:To analyze the genetic variant characteristics of primary immunodeficiency diseases (PID) in families from Henan Province.Methods:This study conducted a retrospective analysis of 19 PID pedigrees referred to the Prenatal Diagnosis Center at Henan Provincial People's Hospital between January 2016 and March 2024. Among the 19 families, 13 underwent prenatal diagnosis at our hospital, while the remaining six received genetic counseling based on third-party genetic testing reports (confirmed by our institution's laboratory). The clinical data from these families were analyzed, and descriptive statistical analysis was applied to the data.Results:Among the 19 PID families, there were seven cases of combined immunodeficiency, three immunodeficiency syndromes, three phagocyte deficiencies, three antibody-dominant immunodeficiencies, and three immunodysregulatory disorders, involving a total of 12 genes ( IL2RG, ADA, RAG2, STAT3, SMARCAL1, ATM, POLA1, CYBB, BTK, RAB27A, LRBA, IL10R). A total of 25 genetic variants were identified, including 11 novel variants not previously documented in the ClinVar and HGMD professional databases. The novel variants comprised: IL2RG gene mutations (Exon5_8del and c.903_904delinsCT leading to p.E302*), ADA gene mutation (c.884A>G resulting in p.D295G), RAG2 gene mutation (c.513dupA causing p.W172Mfs3), POLA1 gene mutation (c.25+5G>C), CYBB gene mutations (c.824G>A/p.G275D and c.472A>T/p.K158), BTK gene mutations (c.522_523insC/p.A175fs and c.142-2A>C), and RAB27A gene mutations (c.121delA/p.T41fs and c.272delA/p.D91fs). Among the 13 families undergoing prenatal diagnosis, genetic testing revealed that 11 fetuses carried wild-type genes, and these families elected to continue their pregnancies. One fetus exhibited identical genetic variants to the proband and received a clinical diagnosis consistent with the genetic disorder, while another fetus demonstrated chromosomal copy number variations. In both of these latter cases, the families opted for pregnancy termination. Conclusion:This study identified 11 unreported variants across seven genes, highlighting the need for further expansion of PID genetic variant databases.

Objective To explore the potential of CS-AI technique in accelerating cranial three-dimensional double inversion recovery(3D DIR)sequence imaging.Methods Twenty-six healthy volunteers were prospectively recruited for brain sagittal 3D DIR sequence scanning.The 3D DIR sequences were accelerated with four different acceleration factor(AF)(4,6,8,10)and reconstructed using the traditional compressed sensing(CS)algorithm and a new CS-AI algorithm.Subjective image quality was assessed by two observers using a 5-point Likert scale.Objective image quality was evaluated by calculating contrast(CN)and contrast-to-noise ratio(CNR).Firstly,using CS 4 as the standard,the optimal CS AF was derived after comparing the CN,CNR and subjective scores of CS 4 with those of CS 6,8 and 10 images in a comprehensive judgement,and then further comparing the optimal CS AF with images of CS-AI with different AF to validate the efficacy of the CS-AI,and to select the final optimal CS-AI AF.Results The comparison results between CS 4 and different CS AF indicated that CS 6 was selected as the optimal AF for CS.In further comparisons between CS and different CS-AI AF,the CS-AI technique outperformed the CS technique overall.CS-AI 8 was the maximum applicable AF.Conclusion The CS-AI is overall even better in terms of image quality with higher acceleration potential than the CS.The CS-AI 8 serves as the optimal AF and reduces scanning times by up to 50％while maintaining image quality.

Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Objective To explore the potential of CS-AI technique in accelerating cranial three-dimensional double inversion recovery(3D DIR)sequence imaging.Methods Twenty-six healthy volunteers were prospectively recruited for brain sagittal 3D DIR sequence scanning.The 3D DIR sequences were accelerated with four different acceleration factor(AF)(4,6,8,10)and reconstructed using the traditional compressed sensing(CS)algorithm and a new CS-AI algorithm.Subjective image quality was assessed by two observers using a 5-point Likert scale.Objective image quality was evaluated by calculating contrast(CN)and contrast-to-noise ratio(CNR).Firstly,using CS 4 as the standard,the optimal CS AF was derived after comparing the CN,CNR and subjective scores of CS 4 with those of CS 6,8 and 10 images in a comprehensive judgement,and then further comparing the optimal CS AF with images of CS-AI with different AF to validate the efficacy of the CS-AI,and to select the final optimal CS-AI AF.Results The comparison results between CS 4 and different CS AF indicated that CS 6 was selected as the optimal AF for CS.In further comparisons between CS and different CS-AI AF,the CS-AI technique outperformed the CS technique overall.CS-AI 8 was the maximum applicable AF.Conclusion The CS-AI is overall even better in terms of image quality with higher acceleration potential than the CS.The CS-AI 8 serves as the optimal AF and reduces scanning times by up to 50％while maintaining image quality.

Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Objective:To analyze the genetic variant characteristics of primary immunodeficiency diseases (PID) in families from Henan Province.Methods:This study conducted a retrospective analysis of 19 PID pedigrees referred to the Prenatal Diagnosis Center at Henan Provincial People's Hospital between January 2016 and March 2024. Among the 19 families, 13 underwent prenatal diagnosis at our hospital, while the remaining six received genetic counseling based on third-party genetic testing reports (confirmed by our institution's laboratory). The clinical data from these families were analyzed, and descriptive statistical analysis was applied to the data.Results:Among the 19 PID families, there were seven cases of combined immunodeficiency, three immunodeficiency syndromes, three phagocyte deficiencies, three antibody-dominant immunodeficiencies, and three immunodysregulatory disorders, involving a total of 12 genes ( IL2RG, ADA, RAG2, STAT3, SMARCAL1, ATM, POLA1, CYBB, BTK, RAB27A, LRBA, IL10R). A total of 25 genetic variants were identified, including 11 novel variants not previously documented in the ClinVar and HGMD professional databases. The novel variants comprised: IL2RG gene mutations (Exon5_8del and c.903_904delinsCT leading to p.E302*), ADA gene mutation (c.884A>G resulting in p.D295G), RAG2 gene mutation (c.513dupA causing p.W172Mfs3), POLA1 gene mutation (c.25+5G>C), CYBB gene mutations (c.824G>A/p.G275D and c.472A>T/p.K158), BTK gene mutations (c.522_523insC/p.A175fs and c.142-2A>C), and RAB27A gene mutations (c.121delA/p.T41fs and c.272delA/p.D91fs). Among the 13 families undergoing prenatal diagnosis, genetic testing revealed that 11 fetuses carried wild-type genes, and these families elected to continue their pregnancies. One fetus exhibited identical genetic variants to the proband and received a clinical diagnosis consistent with the genetic disorder, while another fetus demonstrated chromosomal copy number variations. In both of these latter cases, the families opted for pregnancy termination. Conclusion:This study identified 11 unreported variants across seven genes, highlighting the need for further expansion of PID genetic variant databases.

Objective:To evaluate the value of implementing a modified reverse puncture procedure for esophagojejunostomy during totally laparoscopic total gastrectomy.Methods:This was a descriptive case series. Relevant clinical data, including the operative procedure, recovery, and pathological findings of 35 patients with gastric cancer who had undergone esophagojejunostomy with a modified reverse puncture technique during totally laparoscopic total gastrectomy in the Department of Gastrointestinal Surgery, Fujian Provincial Hospital, from June 2022 to January 2023, were prospectively collected and retrospectively analyzed. The age of all patients in the group was (64.9±8.0) years old, with 22 males (62.9%) and a body mass index of (23.2±2.4) kg/m 2. The tumors were located in the upper and middle parts of the stomach in 24 cases (68.6%) and in the junction of the esophagus and stomach in 11 cases (31.4%). Important technical aspects of the modified reverse puncture procedure are as follows. (1) Site of the esophageal incision: a transverse incision is made across the right lateral wall of the esophagus at the expected site of esophageal disjunction. (2) Technique for inserting an anvil: after threading a silk thread through the tip of anvil, the end of the thread is knotted and fixed as the traction thread, after which an anvil is inserted into the esophagus through the esophageal incision, leaving the end of the traction line exposed. Next, a 60-mm linear cutter is placed through the right midclavicular trocar to straighten the opened esophagus vertically, after which the rod of the anvil is pulled out of a small incision that has been made in the esophagus by pulling the traction thread, thus completing anvil placement. (3) Jejunal binding: the jejunum on the central bar of the stapler is fastened with silk thread to the stump of the jejunum, and then tied to the output loop of the jejunum with a gauze strip. Results:All 35 surgeries were successful, with no mortality or conversion to laparotomy. The operation time, anvil insertion time, and digestive tract reconstruction time were (232.7±34.4), (8.5±1.4), and (40.5±4.8) minutes, respectively. The intraoperative blood loss was 100 (20–250) mL and the incision was (5.3±0.9) cm long. The upper surgical margin was negative in all patients and the mean distance between the upper and tumor margins was (3.5±1.2) cm. The mean number of lymph nodes dissected per patient was 33.9±7.1. The times to initial ambulation, initial passage of flatus , postoperative fluid intake, and length of postoperative hospital stay were (3.2±1.1), (3.7±1.5), (4.6±2.3), and (9.8±3.2) days, respectively. Postoperative complications occurred in five patients: one case of anastomotic leak, two of anastomotic stenosis, one of pulmonary infection, and one of incomplete intestinal obstruction, all of which were successfully managed conservatively.Conclusion:Esophagojejunostomy using a modified reverse puncture technique during totally laparoscopic total gastrectomy is safe and feasible for gastric cancer, requiring only a small incision and achieving higher upper esophageal resection margins and good postoperative recovery, and therefore warrants further implementation.

Objective:To evaluate the value of implementing a modified reverse puncture procedure for esophagojejunostomy during totally laparoscopic total gastrectomy.Methods:This was a descriptive case series. Relevant clinical data, including the operative procedure, recovery, and pathological findings of 35 patients with gastric cancer who had undergone esophagojejunostomy with a modified reverse puncture technique during totally laparoscopic total gastrectomy in the Department of Gastrointestinal Surgery, Fujian Provincial Hospital, from June 2022 to January 2023, were prospectively collected and retrospectively analyzed. The age of all patients in the group was (64.9±8.0) years old, with 22 males (62.9%) and a body mass index of (23.2±2.4) kg/m 2. The tumors were located in the upper and middle parts of the stomach in 24 cases (68.6%) and in the junction of the esophagus and stomach in 11 cases (31.4%). Important technical aspects of the modified reverse puncture procedure are as follows. (1) Site of the esophageal incision: a transverse incision is made across the right lateral wall of the esophagus at the expected site of esophageal disjunction. (2) Technique for inserting an anvil: after threading a silk thread through the tip of anvil, the end of the thread is knotted and fixed as the traction thread, after which an anvil is inserted into the esophagus through the esophageal incision, leaving the end of the traction line exposed. Next, a 60-mm linear cutter is placed through the right midclavicular trocar to straighten the opened esophagus vertically, after which the rod of the anvil is pulled out of a small incision that has been made in the esophagus by pulling the traction thread, thus completing anvil placement. (3) Jejunal binding: the jejunum on the central bar of the stapler is fastened with silk thread to the stump of the jejunum, and then tied to the output loop of the jejunum with a gauze strip. Results:All 35 surgeries were successful, with no mortality or conversion to laparotomy. The operation time, anvil insertion time, and digestive tract reconstruction time were (232.7±34.4), (8.5±1.4), and (40.5±4.8) minutes, respectively. The intraoperative blood loss was 100 (20–250) mL and the incision was (5.3±0.9) cm long. The upper surgical margin was negative in all patients and the mean distance between the upper and tumor margins was (3.5±1.2) cm. The mean number of lymph nodes dissected per patient was 33.9±7.1. The times to initial ambulation, initial passage of flatus , postoperative fluid intake, and length of postoperative hospital stay were (3.2±1.1), (3.7±1.5), (4.6±2.3), and (9.8±3.2) days, respectively. Postoperative complications occurred in five patients: one case of anastomotic leak, two of anastomotic stenosis, one of pulmonary infection, and one of incomplete intestinal obstruction, all of which were successfully managed conservatively.Conclusion:Esophagojejunostomy using a modified reverse puncture technique during totally laparoscopic total gastrectomy is safe and feasible for gastric cancer, requiring only a small incision and achieving higher upper esophageal resection margins and good postoperative recovery, and therefore warrants further implementation.