Objective:To investigate the carriage of the thalassemia gene in sperm donors in Chongqing,China by analyzing the thalas-semia screening and gene mutation types of sperm donors in Chongqing Human Sperm Bank(CHSB),and to provide a reference for thalassemia screening in sperm donors in Chongqing.Methods:Blood samples were collected from 488 sperm donors in CHSB(donors with all tests qualified during the quarantine)from December 2021 to August 2024.A complete blood count analysis was performed to measure the mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH).Polymerase chain reaction(PCR)/agarose gel electrophoresis was used to detect deletional α-thalassemia mutations.PCR and DNA reverse dot blot hybridization were used to detect 3 common non-deletional α-thalassemia mutations and 17 common β-thalassemia mutations.The test results were then analyzed.Results:Among the 488 sperm donors aged 25.64±4.95 years,15(3.07％,all Han nationality)tested positive for thalassemia.This carriage rate was lower than that of the thalassemia population in Chongqing(9.24％).Among the 15 thalassemia carriers,13 had deletional α-gene mutations(-α3.7 genotype in 11 cases[73.33％],-α4.2 genotype in 1 case[6.67％],and-SEA genotype in 1 case[6.67％]),and 2 had non-deletional α-gene mutations(both with the WSM heterozygous mutation).There was only 1 case of abnor-mal MCV and MCH2 indicators among thalassemia carriers(screening positive rate was 6.67％).Conclusion:Thalassemia screening in sperm donors in CHSB reveals a low thalassemia carriage rate,reflecting geographic(predominantly Sichuan and Chongqing ori-gins)and demographic(healthy men of childbearing potential)characteristics.Given the significant impact of thalassemia on the off-spring conceived through sperm donation,it is recommended to conduct thalassemia gene screening among sperm donors in human sperm banks.

Objective:To investigate the effects of surgery with the Yeung endoscopic spine system (YESS) technique on lumbar range of motion and limb function in patients with lumbar disc herniation.Methods:A total of 148 patients with lumbar intervertebral disc herniation admitted to Liaocheng Second Hospital Affiliated to Shandong First Medical University from April 2018 to April 2021 were included in this study. They were randomly divided into control and observation groups ( n = 74/group). The control group was treated with laminectomy, and the observation group was treated with an intervertebral foramen mirror YESS. The lumbar range of motion, Oswestry disability index score, and incidence of surgical complications were compared between the two groups. Results:At postoperative 7 days, ranges of motion in lumbar flexion, lumbar extension, left lumbar lateral flexion, and right lumbar lateral flexion in the observation group were (87.45 ± 7.38)°, (26.87 ± 3.41)°, (28.58 ± 3.41)°, (28.39 ± 3.41)°, which were significantly higher than (68.98 ± 6.51)°, (15.69 ± 3.23)°, (18.69 ± 2.32)°, (14.56 ± 2.96)° in the control group ( t = 16.15, 20.48, 20.63, 26.35, all P < 0.001). At postoperative 7 days, the Oswestry Disability Index in each group was significantly decreased compared with before treatment (both P < 0.05). At postoperative 7 days, the score of each dimension of the Oswestry Disability Index in the observation group was significantly lower compared with the control group ( t = 49.13, 50.20, 54.78, 37.79, 32.04, 36.68, 43.69, 28.92, 39.31, 64.12, all P < 0.001). There were no significant differences in the incidences of perioperative incision infection, nerve injury, cerebrospinal fluid leaks, lumbar spondylolisthesis, and foot drop between the two groups (all P > 0.05). Conclusion:Treatment of lumbar intervertebral disc herniation with the YESS technique is helpful to improve lumbar mobility and reduce lumbar dysfunction and is highly safe.

Plexiform neurofibromas (pNF) is significant hallmark of type Ⅰ neurofibromatosis, posing substantial negative impacts on patients’ quality of life and daily functionality. Surgical intervention remains the primary modality of treatment. However, the surgery is fraught with challenges due to the rich vascularization, intricate neural involvement, and ill-defined borders of the tumors. The risk of recurrence and complications further complicates the surgical approach. Through extensive literature review and integrative analysis, this article summarizes the current surgical treatment options and adjunctive techniques available for pNF management. Preoperative radiological assessments, vascular embolization, intraoperative neural monitoring, and fluorescence navigation are among the ancillary techniques that can effectively mitigate surgical risks. The timing of surgery should be guided by specific indications and contraindications, while the surgical plan must be individualized based on the patient’s unique presentation, sometimes necessitating a multidisciplinary approach. Overall, a comprehensive assessment of the patient’s condition and the implementation of multifaceted adjunctive measures are imperative for maximizing tumor resection while minimizing the risks of recurrence and complications.

Plexiform neurofibromas (pNF) is significant hallmark of type Ⅰ neurofibromatosis, posing substantial negative impacts on patients’ quality of life and daily functionality. Surgical intervention remains the primary modality of treatment. However, the surgery is fraught with challenges due to the rich vascularization, intricate neural involvement, and ill-defined borders of the tumors. The risk of recurrence and complications further complicates the surgical approach. Through extensive literature review and integrative analysis, this article summarizes the current surgical treatment options and adjunctive techniques available for pNF management. Preoperative radiological assessments, vascular embolization, intraoperative neural monitoring, and fluorescence navigation are among the ancillary techniques that can effectively mitigate surgical risks. The timing of surgery should be guided by specific indications and contraindications, while the surgical plan must be individualized based on the patient’s unique presentation, sometimes necessitating a multidisciplinary approach. Overall, a comprehensive assessment of the patient’s condition and the implementation of multifaceted adjunctive measures are imperative for maximizing tumor resection while minimizing the risks of recurrence and complications.

【Objective】 To understand the distribution and gene frequency of main red blood cell blood groups in Lahu ethnic minority and analyze the genetic characteristics of Lahu people. 【Methods】 1) ABO forward and reverse typing had been performed by microplate method; 2) Rh, MN, H, P1Pk and Mur antigen were tested by the tube method. If the ABO forward and reverse typing were incompatible, the tube method was used for confirmation. 【Results】 The distribution characteristics of blood group and gene frequency in Lahu ethnic minority were as follows: B>O>A>AB for ABO, with genotype frequency as p 11.1%, q 27.5% and r 61.4%; the frequency of Rh genotype was CDe 83.3%, cDE 12.0%, cDe 2.42%, CDE 2.32%, CdE 0%, Cde 0%, cdE 0% and cde 0%; M > MN>N for MN blood group, with genotype frequency as M 75.26% and N 24.74%; P1

The recent emergence of targeted therapies for neurofibromatosis type 1 (NF1) brings a new dawn for these patients and contributes to an increase in the number of patients seeking medical treatment, which was a great unmet medical need in the past. It puts forward higher requirement for the clinical standard diagnosis and treatment of NF1. As a rare autosomal dominant genetic disorder, the clinical manifestations of NF1 are various and could involve multiple organs and systems, which requires Multi-Disciplinary Treatment (MDT). However, as NF1 is a relatively rare disease and has insufficient attention in the past, current understanding for NF1 is still limited. Standardized multi-disciplinary consultation has not been established nationwide. Furthermore, due to the lack of unified patient registration, evaluation and follow-up system, it is difficult to conduct large-scale clinical cohort studies based on Chinese population. This article reviewed current challenges in the diagnosis, management, and research on NF1 in China. Meanwhile, we proposed several suggestions to improve the diagnosis and treatment abilities based on our long-term experience on NF1, to establish a high-quality Chinese NF1 diagnosis, management, and research system in the future.

Objective:To summarize the publications in the field of neurofibroma and malignant peripheral nerve sheath tumor in the past 25 years, to illuminate the cooperation among countries, academic institutions and researchers, and to compare the research topics between Chinese and English databases, and to predict the research trend.Methods:Web of Science and CNKI databases were searched, and literature about neurofibroma and malignant peripheral nerve sheath tumor(MPNST) resection from January 1st, 1997 to September 2nd, 2021 were included. Excel 2017 was used for statistical analysis. VOSviewer 1.6.16 software was used for clustering and visualization of countries, institutions, authors, and keywords.Results:A total of 9 620 English articles and 957 Chinese articles were included. Over the past 25 years, Chinese and English publications have been increasing quickly. In terms of countries and institutions, most of the countries with a large number of documents published in English literature (top 10) are developed countries and the institutional cooperation between them is relatively close. In terms of keywords clustering, the result of English literature are more comprehensive, including the pathogenesis, clinical manifestations, diagnosis and treatment of complications. The clustering result suggest that the potential research hotspots in the future may be the impact of tumor microenvironment on the development of neurofibroma and MPNST, molecular typing of neurofibroma, drug resistance mechanism of neurofibroma and so on. The clustering of Chinese literature can be summarized as the auxiliary diagnosis of neurofibroma and the treatment of complications.Conclusions:In the future, researchers may pay more attention to the role of tumor microenvironment in the development of neurofibroma, driving factors of neurofibroma and MPNST, molecular typing and drug resistance mechanism of neurofibroma.

The recent emergence of targeted therapies for neurofibromatosis type 1 (NF1) brings a new dawn for these patients and contributes to an increase in the number of patients seeking medical treatment, which was a great unmet medical need in the past. It puts forward higher requirement for the clinical standard diagnosis and treatment of NF1. As a rare autosomal dominant genetic disorder, the clinical manifestations of NF1 are various and could involve multiple organs and systems, which requires Multi-Disciplinary Treatment (MDT). However, as NF1 is a relatively rare disease and has insufficient attention in the past, current understanding for NF1 is still limited. Standardized multi-disciplinary consultation has not been established nationwide. Furthermore, due to the lack of unified patient registration, evaluation and follow-up system, it is difficult to conduct large-scale clinical cohort studies based on Chinese population. This article reviewed current challenges in the diagnosis, management, and research on NF1 in China. Meanwhile, we proposed several suggestions to improve the diagnosis and treatment abilities based on our long-term experience on NF1, to establish a high-quality Chinese NF1 diagnosis, management, and research system in the future.

Objective:To summarize the publications in the field of neurofibroma and malignant peripheral nerve sheath tumor in the past 25 years, to illuminate the cooperation among countries, academic institutions and researchers, and to compare the research topics between Chinese and English databases, and to predict the research trend.Methods:Web of Science and CNKI databases were searched, and literature about neurofibroma and malignant peripheral nerve sheath tumor(MPNST) resection from January 1st, 1997 to September 2nd, 2021 were included. Excel 2017 was used for statistical analysis. VOSviewer 1.6.16 software was used for clustering and visualization of countries, institutions, authors, and keywords.Results:A total of 9 620 English articles and 957 Chinese articles were included. Over the past 25 years, Chinese and English publications have been increasing quickly. In terms of countries and institutions, most of the countries with a large number of documents published in English literature (top 10) are developed countries and the institutional cooperation between them is relatively close. In terms of keywords clustering, the result of English literature are more comprehensive, including the pathogenesis, clinical manifestations, diagnosis and treatment of complications. The clustering result suggest that the potential research hotspots in the future may be the impact of tumor microenvironment on the development of neurofibroma and MPNST, molecular typing of neurofibroma, drug resistance mechanism of neurofibroma and so on. The clustering of Chinese literature can be summarized as the auxiliary diagnosis of neurofibroma and the treatment of complications.Conclusions:In the future, researchers may pay more attention to the role of tumor microenvironment in the development of neurofibroma, driving factors of neurofibroma and MPNST, molecular typing and drug resistance mechanism of neurofibroma.

Clinical data of 12 patients with gastric cancer, in whom the Roux and Y space hernia developed after gastrectomy with Roux-en-Y anastomosis in our hospital from June 2010 to December 2018, were retrospectively analyzed. The clinical symptoms of patients were abdominal pain, distension and ileus. The main CT findings were torsion of mesentery with whirlpool sign, intestinal obstruction and exudants around the small bowels. During the operation it was found that small bowels herniated into the Roux and Y space in all 12 patients, the necrotic small intestines were resected in 4 patients. Ten patients were recovered, and 2 died. No recurrence was observed in all 10 patients during 3 month-follow up. The postoperative Roux and Y space hernia is a internal hernia and difficult to be diagnosed. The CT scan is valuable for diagnosis of Roux and Y space hernia; the main CT signs were swirled appearance of mesentery and small bowel obstruction. Once diagnosis is made the emergency operation is necessary.