Objective:To explore the phenotypic and genotypic characteristics of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency.Methods:A female patient with FⅪ deficiency and her family members (five individuals from three generations) who presented at Quanzhou First Hospital Affiliated to Fujian Medical University on September 19, 2024 due to diarrhea and fever were selected as study subjects. A retrospective study was conducted to collect the patients′ clinical data. Peripheral venous blood samples were collected from the patient and her family members. Genomic DNA was extracted, followed by sequencing of all exons and flanking sequences of the F11 gene. Candidate variants were validated by Sanger sequencing of the family members, and their pathogenicity was classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Quanzhou First Hospital [Approval No.: Quanyi Lun (2024) K281]. Results:The patient exhibited significantly prolonged activated partial thromboplastin time (APTT) of 80.9 seconds, while FⅪ activity (FⅪ: C) and FⅪ antigen (FⅪ: Ag) levels were extremely low (2% and 3%, respectively). Genetic analysis revealed that the proband harbored homozygous c. 896C>G (p.Thr299Ser) missense variant in exon 9 of the F11 gene, for which her son was heterozygous. The variant was located in a highly conserved domain. Although Mutation Taster predicted it as a polymorphism, SIFT, PolyPhen-2, and LRT analyses suggested it to be likely pathogenic. Protein modeling indicated that the p. Thr299Ser variant may alter the hydrogen bonds between amino acids, thereby affecting the structure and function of the FⅪ protein. According to the ACMG guidelines, c. 896C>G was rated as a likely pathogenic variant (PM1+ PM2_Supporting+ PP1_Strong+ PP3+ PP4). Conclusion:The c. 896C>G (p.Thr299Ser) missense variant of the F11 gene probably underlay the FⅪ deficiency in this pedigree. Above finding has enriched the mutational spectrum of the F11 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.

OBJECTIVE: To evaluate the short-term effectiveness of Ilizarov technique combined with steel needle internal fixation in treating Charcot neuroarthropathy (CN) of the foot and ankle. METHODS: Between June 2020 and December 2023, 12 patients with Eichenholtz stage Ⅲ CN of the foot and ankle were treated with Ilizarov technique and steel needle internal fixation. There were 9 males and 3 females with an average age of 48.6 years (range, 19-66 years). The disease duration ranged from 1 to 16 months (mean, 6.8 months). Ankle joint involvement predominated in 7 cases, while midfoot involvement occurred in 5 cases; 3 cases presented with skin ulceration and soft tissue infection. Preoperative American Orthopedic Foot and Ankle Society (AOFAS) score was 31.2±9.0, 36-Item Short-Form Health Survey (SF-36)-Physical Component Summary (PCS) score was 32.6±6.8, and Mental Component Summary (MCS) score was 47.8±8.4. Postoperative assessments included wound healing, regular X-ray film/CT evaluations of fusion status, and effectiveness via AOFAS and SF-36-PCS, MCS scores. RESULTS: All operations were successfully completed without neurovascular complication. Two patients experienced delayed wound healing requiring intervention, and the others achieved primary healing. All patients were followed up 15-43 months (mean, 23.3 months). Imaging confirmed successful joint fusion within 13-21 weeks (mean, 16.8 weeks). At last follow-up, the AOFAS score was 72.5±6.4, and the SF-36-PCS and MCS scores were 63.2±8.4 and 76.7±5.3, respectively, all of which improved compared to preoperative levels, with significant differences ( P<0.05). CONCLUSION Ilizarov technique combined with steel needle internal fixation effectively restores walking function and achieves satisfactory short-term effectiveness in CN of the foot and ankle.
Humans ; Middle Aged ; Male ; Female ; Adult ; Ilizarov Technique ; Arthropathy, Neurogenic/surgery* ; Aged ; Ankle Joint/surgery* ; Treatment Outcome ; Needles ; Fracture Fixation, Internal/instrumentation* ; Steel ; Young Adult ; Foot Joints/surgery*

Prostate cancer is the second most common malignancy among men worldwide. Owing to its unique biological characteristics (a low α/β ratio), hypofractionated radiotherapy can improve tumor control in prostate cancer. Consequently, the American National Comprehensive Cancer Network (NCCN) guidelines have recommended hypofractionated radiotherapy as the preferred treatment option for localized prostate cancer. However, the use of hypofractionated radiotherapy in pelvic irradiation after radical prostatectomy remains limited, and its safety and efficacy are yet to be fully established. Investigating the feasibility of moderate-hypofractionated post-prostatectomy radiotherapy has therefore become a recent focus of clinical research. In this review, moderate-hypofractionated post-prostatectomy radiotherapy was categorized according to the per-fraction dose and current evidence was summarized from retrospective studies, prospective studies, and ongoing clinical trials.

Objective To systematically evaluate the efficacy of different traditional Chinese medicine pulmonary rehabilitation interventions on pulmonary function and exercise tolerance in pa-tients with stable phase of.Methods Databases including CNKI,Wanfang,VIP,China Biology Medicine,PubMed,and the Cochrane Library were searched for randomized clinical trials(RCTs)related to chronic obstructive pulmonary disease from their inception to June 30,2023.Two research-ers independently conducted literature screening,data extraction,and bias risk assessment.Statistical analysis was performed using Stata 17.0 and R 4.4.1 software.Results A total of 239 RCTs involving 20,719 patients were included,encompassing 18 types of interventions,such as acupoint application,acupuncture,moxibustion,traditional Chinese medicine exercises,massage,cupping,etc.Network Meta-analysis revealed that compared with conventional treatment,traditional Chinese medicine ex-ercises,moxibustion,acupoint application,acupoint application plus auricular point pressing,acu-point application plus moxibustion,acupoint massage plus traditional Chinese medicine directed drug penetration,Chinese herbal footbath plus moxibustion,comprehensive traditional Chinese medicine rehabilitation,five-element music therapy,pulmonary rehabilitation training,and acupoint applica-tion plus acupoint injection significantly improved forced expiratory volume in the first second(FEV1).Traditional Chinese medicine exercises,moxibustion,acupoint application,acupoint ap-plication plus moxibustion,Chinese herbal medicine,Chinese herbal footbath plus moxibustion,comprehensive traditional Chinese medicine rehabilitation,five-element music therapy,and acu-puncture exhibited significant efficacy in reducing forced vital capacity(FVC).Traditional Chinese medicine exercise therapy,acupoint application therapy,acupoint application plus acupuncture ther-apy,acupoint application plus moxibustion therapy,and acupuncture therapy significantly enhanced exercise tolerance in patients(P＜0.05).The cumulative ranking plot demonstrated that Chinese herbal footbath plus moxibustion and acupoint application plus acupuncture were the most effective interventions for improving pulmonary function and enhancing exercise tolerance in patients with sta-ble phase of chronic obstructive pulmonary disease.Conclusion Traditional Chinese medicine pul-monary rehabilitation interventions are effective in treating patients with chronic obstructive pulmona-ry disease,with each intervention demonstrating distinct advantages.Chinese herbal footbath plus moxibustion and acupoint application plus acupuncture may represent the optimal strategies for im-proving pulmonary function indices and enhancing exercise tolerance in patients with stable phase of chronic obstructive pulmonary disease.

OBJECTIVE: To explore the phenotypic and genotypic characteristics of a Chinese pedigree affected with Hereditary coagulation factor XI (FXI) deficiency. METHODS: A female patient with FXI deficiency and her family members (five individuals from three generations) who presented at Quanzhou First Hospital Affiliated to Fujian Medical University on September 19, 2024 due to diarrhea and fever were selected as study subjects. A retrospective study was conducted to collect the patients' clinical data. Peripheral venous blood samples were collected from the patient and her family members. Genomic DNA was extracted, followed by sequencing of all exons and flanking sequences of the F11 gene. Candidate variants were validated by Sanger sequencing of the family members, and their pathogenicity was classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Quanzhou First Hospital [Approval No.: Quanyi Lun (2024) K281]. RESULTS: The patient exhibited significantly prolonged activated partial thromboplastin time (APTT) of 80.9 seconds, while FXI activity (FXI:C) and FXI antigen (FXI:Ag) levels were extremely low (2% and 3%, respectively). Genetic analysis revealed that the proband harbored homozygous c.896C>G (p.Thr299Ser) missense variant in exon 9 of the F11 gene, for which her son was heterozygous. The variant was located in a highly conserved domain. Although Mutation Taster predicted it as a polymorphism, SIFT, PolyPhen-2, and LRT analyses suggested it to be likely pathogenic. Protein modeling indicated that the p.Thr299Ser variant may alter the hydrogen bonds between amino acids, thereby affecting the structure and function of the FXI protein. According to the ACMG guidelines, c.896C>G was rated as a likely pathogenic variant (PM1+PM2_Supporting+PP1_Strong+PP3+PP4). CONCLUSION The c.896C>G (p.Thr299Ser) missense variant of the F11 gene probably underlay the FXI deficiency in this pedigree. Above finding has enriched the mutational spectrum of the F11 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.
Adult ; Female ; Humans ; Male ; Middle Aged ; China/ethnology* ; Factor XI/chemistry* ; Factor XI Deficiency/genetics* ; Homozygote ; Pedigree ; Retrospective Studies ; East Asian People/genetics*

Objective:To explore the CT and MRI features of Rosai-Dorfman disease (RDD) in nasal cavity and paranasal sinus.Methods:The study was a cross-sectional study. From July 2007 to August 2023, the imaging findings of 23 patients with pathologically confirmed sinonasal RDD were retrospectively analyzed in the Eye & ENT Hospital of Fudan University. Among 23 patients, there were nine males and 14 females with 44±16 years old. Imaging features including tumor location, the extent, density, signal, enhancement pattern of tumors, bone change, abnormal lesions in peripheral lymph nodes and other regions were recorded. The apparent diffusion coefficient (ADC) value of lesions in patients performed diffusion weighted imaging (DWI) were measured.Results:For the 23 cases, totally 20 patients showed bilateral sinonasal involvement and three patients had unilateral lesions. Totally nine patients had lesions confined to the nasal cavity and paranasal sinuses, and 14 patients had lesions with extrasinonasal invasion, including orbit (6 cases), nasolacrimal duct (9 cases), anterior skull base (3 cases), nasal dorsum subcutaneous tissue (2 cases) and hard palate (1 case). Soft tissue lesions on the posterior wall of the subglottic trachea were found in 2 cases and intracranial lesions were found in 1 case. Totally 10 patients were accompanied by lymph nodes enlargement. The lesions showed isodense on all 20 non-contrast enhanced CT images, and mild enhancement in three cases, moderate enhancement in seven cases and significant enhancement in seven cases on CT enhancement images. Bone changes were found in 19 of 20 patients on CT, showing mild bone destruction in five cases and bone destruction with hyperplasia in 14 cases. The lesions showed isointense on T 1WI in all 14 cases. The lesions were graded as isointense in nine cases, hypointense in four cases and hyperintense in one case on T 2WI. The lesions displayed moderate to obvious homogeneous enhancement on enhanced MRI. The lesions showed significant diffusion limitation and ADC value was (0.66±0.08)×10 -3 mm 2/s in 11 cases on DWI. Conclusions:The CT and MRI imaging characteristics of sinonasal RDD are diffuse masses on both sides of nasal cavity and paranasal sinuses, accompanied by bone hyperplasia. The lesions show isointense or hypointense on T 2WI, and may involve adjacent tissues and may be accompanied by lymph nodes enlargement in the retropharyngeal and neck.

Objective:To explore the phenotypic and genotypic characteristics of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency.Methods:A female patient with FⅪ deficiency and her family members (five individuals from three generations) who presented at Quanzhou First Hospital Affiliated to Fujian Medical University on September 19, 2024 due to diarrhea and fever were selected as study subjects. A retrospective study was conducted to collect the patients′ clinical data. Peripheral venous blood samples were collected from the patient and her family members. Genomic DNA was extracted, followed by sequencing of all exons and flanking sequences of the F11 gene. Candidate variants were validated by Sanger sequencing of the family members, and their pathogenicity was classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Quanzhou First Hospital [Approval No.: Quanyi Lun (2024) K281]. Results:The patient exhibited significantly prolonged activated partial thromboplastin time (APTT) of 80.9 seconds, while FⅪ activity (FⅪ: C) and FⅪ antigen (FⅪ: Ag) levels were extremely low (2% and 3%, respectively). Genetic analysis revealed that the proband harbored homozygous c. 896C>G (p.Thr299Ser) missense variant in exon 9 of the F11 gene, for which her son was heterozygous. The variant was located in a highly conserved domain. Although Mutation Taster predicted it as a polymorphism, SIFT, PolyPhen-2, and LRT analyses suggested it to be likely pathogenic. Protein modeling indicated that the p. Thr299Ser variant may alter the hydrogen bonds between amino acids, thereby affecting the structure and function of the FⅪ protein. According to the ACMG guidelines, c. 896C>G was rated as a likely pathogenic variant (PM1+ PM2_Supporting+ PP1_Strong+ PP3+ PP4). Conclusion:The c. 896C>G (p.Thr299Ser) missense variant of the F11 gene probably underlay the FⅪ deficiency in this pedigree. Above finding has enriched the mutational spectrum of the F11 gene and provided a basis for genetic counseling and prenatal diagnosis for this family.

Objective:To explore the CT and MRI features of Rosai-Dorfman disease (RDD) in nasal cavity and paranasal sinus.Methods:The study was a cross-sectional study. From July 2007 to August 2023, the imaging findings of 23 patients with pathologically confirmed sinonasal RDD were retrospectively analyzed in the Eye & ENT Hospital of Fudan University. Among 23 patients, there were nine males and 14 females with 44±16 years old. Imaging features including tumor location, the extent, density, signal, enhancement pattern of tumors, bone change, abnormal lesions in peripheral lymph nodes and other regions were recorded. The apparent diffusion coefficient (ADC) value of lesions in patients performed diffusion weighted imaging (DWI) were measured.Results:For the 23 cases, totally 20 patients showed bilateral sinonasal involvement and three patients had unilateral lesions. Totally nine patients had lesions confined to the nasal cavity and paranasal sinuses, and 14 patients had lesions with extrasinonasal invasion, including orbit (6 cases), nasolacrimal duct (9 cases), anterior skull base (3 cases), nasal dorsum subcutaneous tissue (2 cases) and hard palate (1 case). Soft tissue lesions on the posterior wall of the subglottic trachea were found in 2 cases and intracranial lesions were found in 1 case. Totally 10 patients were accompanied by lymph nodes enlargement. The lesions showed isodense on all 20 non-contrast enhanced CT images, and mild enhancement in three cases, moderate enhancement in seven cases and significant enhancement in seven cases on CT enhancement images. Bone changes were found in 19 of 20 patients on CT, showing mild bone destruction in five cases and bone destruction with hyperplasia in 14 cases. The lesions showed isointense on T 1WI in all 14 cases. The lesions were graded as isointense in nine cases, hypointense in four cases and hyperintense in one case on T 2WI. The lesions displayed moderate to obvious homogeneous enhancement on enhanced MRI. The lesions showed significant diffusion limitation and ADC value was (0.66±0.08)×10 -3 mm 2/s in 11 cases on DWI. Conclusions:The CT and MRI imaging characteristics of sinonasal RDD are diffuse masses on both sides of nasal cavity and paranasal sinuses, accompanied by bone hyperplasia. The lesions show isointense or hypointense on T 2WI, and may involve adjacent tissues and may be accompanied by lymph nodes enlargement in the retropharyngeal and neck.

Prostate cancer is the second most common malignancy among men worldwide. Owing to its unique biological characteristics (a low α/β ratio), hypofractionated radiotherapy can improve tumor control in prostate cancer. Consequently, the American National Comprehensive Cancer Network (NCCN) guidelines have recommended hypofractionated radiotherapy as the preferred treatment option for localized prostate cancer. However, the use of hypofractionated radiotherapy in pelvic irradiation after radical prostatectomy remains limited, and its safety and efficacy are yet to be fully established. Investigating the feasibility of moderate-hypofractionated post-prostatectomy radiotherapy has therefore become a recent focus of clinical research. In this review, moderate-hypofractionated post-prostatectomy radiotherapy was categorized according to the per-fraction dose and current evidence was summarized from retrospective studies, prospective studies, and ongoing clinical trials.

Objective To study the sedative and hypnotic effects of Yening Capsules and investigate its bioactive mechanism in mice.Methods The mice were randomly divided into control group,estazolam group(0.8 mg/kg),low,medium and high-dose Yening Capsules groups(400,600 and 800 mg/kg).The locomotor activity,latency to persistent sleep,sleep duration and sleep rate were determined respectively in mice via the open field test and injection of pentobarbital sodium in subthreshold and suprathreshold doses.The content of GABA,5-HT,DA and NE in brain tissue of mice were detected by enzyme-linked immunosorbent assay(ELISA).Results Compared with the control group,Yening Capsules medium and high dose group(P<0.05,P<0.01)significantly decreased the locomotor activity of mice.The sleep latency in Yening Capsules medium and high dose group were significantly shorten(P<0.05,P<0.05)and the sleep duration(P<0.05,P<0.01)were extended.The sleep rate of Yening Capsules medium and high dose groups(P<0.05,P<0.01)was significantly increased.Compared with the control group,high dose of Yening Capsules can significantly increase GABA(P<0.05),5-HT(P<0.05),DA(P<0.05),NE(P<0.01)in mouse brain tissue.Conclusion Yening Capsules had obvious sedative and hypnotic effects,and its mechanism may be related to the increasement of GABA,5-HT,DA and NE level in brain tissue of mice.