OBJECTIVE: To compare the effectiveness of posterior axillary edge approach and arthroscopic assisted reduction in the treatment of Ideberg type Ⅰ and Ⅱ glenoid fracture of the scapula. METHODS: The clinical data of 26 patients with fresh Ideberg type Ⅰ and Ⅱ scapular fractures admitted between June 2021 and September 2024 who met the selection criteria were analyzed retrospectively. The patients were divided into two groups according to different treatment methods. Ten cases in the posterior axillary edge group were fixed by open reduction plate through the posterior axillary edge approach, and 16 cases in the arthroscopy group were treated with suture anchor fixation under arthroscopy. There was no significant difference in baseline data between the two groups ( P>0.05), such as gender, age, surgical side, Ideberg type, cause of injury, time from injury to operation, rotator cuff injury, and superior labrum anterior posterior (SLAP) injury, etc. The operation time and fracture healing time were recorded and compared between the two groups, and the shoulder pain was evaluated by visual analogue scale (VAS) score at 1 week, 1 month, and 3 months after operation. At 3 and 6 months after operation, the range of motion of shoulder joint in anteflexion, abduction, external rotation, internal rotation, and backward extension was evaluated, the upper limb dysfunction was evaluated by the Disability Assessment Scale of Arm, Shoulder, and Hand (DASH), and the shoulder joint function was evaluated by the Constant-Murley score. The differences between 6 months and 3 months after operation (changes) were statistically analyzed. RESULTS: Patients in both groups were followed up 11-13 months, with an average of 12.5 months. The operation time and fracture healing time in the posterior axillary edge group were significantly shorter than those in the arthroscopy group ( P<0.05). There was no complication such as wound infection, vascular and nerve injury, loss of reduction, bone nonunion, or glenohumeral instability in both groups. At 1 week after operation, the VAS score in the posterior axillary edge group was significantly higher than that in the arthroscopy group ( P<0.05); there was no significant difference in the VAS score between the two groups at 1 and 3 months after operation ( P>0.05). At 6 months after operation, the changes of shoulder joint in anteflexion, internal rotation range of motion and DASH scores in the posterior axillary edge group were significantly lower than those in the arthroscopy group ( P<0.05), while the changes of abduction, external rotation, backward extension range of motion and Constant-Murley scores were not significantly different between the two groups ( P>0.05). CONCLUSION For Ideberg type Ⅰ and Ⅱ glenoid fracture of the scapula, the posterior axillary edge approach for internal fixation has a short operation time, fast fracture healing, and is beneficial for early functional recovery; arthroscopic assisted reduction has minimal trauma and can handle joint injuries simultaneously. Both surgical procedures are safe and effective, and individualized selection should be made based on soft tissue conditions and combined injuries.
Humans ; Arthroscopy/methods* ; Scapula/surgery* ; Male ; Female ; Retrospective Studies ; Adult ; Fracture Fixation, Internal/instrumentation* ; Fractures, Bone/surgery* ; Middle Aged ; Treatment Outcome ; Bone Plates ; Suture Anchors ; Fracture Healing ; Range of Motion, Articular ; Young Adult ; Shoulder Joint/surgery* ; Operative Time

Objective:To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and chronic idiopathic intestinal pseudo-obstruction (CIIPX).Methods:A pedigree presented at the First Hospital of Lanzhou University in June 2024 for CVDPX combined with CIIPX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).Results:Both the proband and his affected younger brother were found to harbor a hemizygous c. 443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded by the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+ PS4+ PP2+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. Conclusion:This study confirmed the diagnosis of CVDPX/CIIPX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and congenital chronic pseudo intestinal obstruction (CIIPX). METHODS: A pedigree presented at the First Hospital of Lanzhou University for CVDPX combined with CIIX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15). RESULTS: Both the proband and his affected younger brother were found to harbor a hemizygous c.443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded in the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+PS4+PP2+PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. CONCLUSION This study confirmed the diagnosis of CVDPX/CIIX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.
Adult ; Female ; Humans ; Male ; Exome Sequencing ; Filamins/genetics* ; Genetic Diseases, X-Linked/genetics* ; Heart Defects, Congenital/genetics* ; Heart Valve Diseases/genetics* ; Pedigree ; East Asian People/genetics*

OBJECTIVE: To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) for its diagnosis. METHODS: Two half-sibs by the same father presented at the First Hospital of Lanzhou University in December 2024 for severe multi-system abnormalities were selected as study subjects. Peripheral blood samples from the their parents were subjected to conventional chromosomal karyotyping analysis. The father was further analyzed using C-MoKa, while both siblings underwent copy number variation sequencing (CNV-seq). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-05). RESULTS: Conventional karyotype analysis indicated that the father has a karyotype of 46,XY,add(5)(p15.3). CNV-seq identified multiple chromosomal abnormalities in both siblings, including duplications and deletions of chromosomes 14 and 5. C-MoKa analysis further revealed a complex chromosomal structural variation involving chromosomes 5, 7, and 14 in the father. These variations were closely associated with the severe phenotypes noted in both children. CONCLUSION Complex chromosomal structural variations can lead to multi-system abnormalities and significantly impact reproductive health. Compared to conventional karyotyping, the C-MoKa technique has shown significant advantage in identifying such complex rearrangements. The combined application of multiple techniques can improve the accuracy of diagnosis, enabling genetic counseling for carriers to reduce their risk for producing further affected offspring.
Female ; Humans ; Male ; China ; Chromosome Aberrations ; DNA Copy Number Variations/genetics* ; Karyotyping ; Pedigree ; East Asian People/genetics*

Objective:To investigate the complications of transoral robotic surgery (TORS) and to identify the risk factors for the complications.Methods:This was a retrospective study of 134 cases of head and neck tumors underwent TORS at the Department of Surgery of Beijing United Family Hospital from September 2017 to June 2024. There were 9 cases of benign tumors and 125 cases of malignant tumors, including 119 squamous cell carcinomas, 3 adenocarcinomas, 2 lymphomas, and 1 sarcoma. There were 37 cases of pure TORS and 96 cases of TORS combined with neck dissection. Postoperative complications within 90 days were collected and graded with the Clavien-Dindo system. χ2 test was used for statistical analysis. Results:A total of 25 (18.7%) cases experienced surgical complications, including 9 cases with Clavien-Dindo grade≥Ⅲ complications. Postoperative complications included 2 cases of death, 3 cases of massive hemorrhage, 3 cases of pharyngeal fistula, 2 cases of aspiration pneumonia, 2 cases of minor bleeding, 1 case of tooth injury, 1 case of arytenoid dislocation, 2 cases of tongue laceration, and 10 cases of long-term (>3 months) tracheostomy open. Postoperative pharyngeal fistula was significantly correlated with the scope of neck dissection ( χ2=9.86, P<0.05), and Clavien-Dindo grade≥Ⅲ complications were significantly correlated with the scope of neck dissection ( χ2=13.91, P<0.05) and tumor N stage ( χ2=14.33, P<0.05). Conclusion:The high N-stage and neck dissection involving more than three regions are risk factors for the complications of TORS for head and neck tumors.

Objective:To evaluate the effectiveness and safety of robot-assisted neck dissection via retroauricular approach for head and neck squamous cell carcinoma patients.Methods:A retrospective analysis was conducted on 22 patients with head and neck squamous cell carcinoma who underwent robot-assisted neck dissection via the retroauricular approach at Beijing United Family Hospital from March 2018 to August 2023. Among them, 6 were female and 16 were male, with an age range of 39-75 years. Preoperative staging showed N0 for 9 patients (41%), N1 for 12 patients (55%), and N2 for 1 patient (4%). The relevant clinical pathological and follow-up data were collected, and the effectiveness and safety of this surgical approach were analyzed. Kaplan Meier method was used to analyze the patient survival rate.Results:All patients were completed the robot-assisted neck dissection without conversion to open neck surgery, including the dissections of Ⅱ-Ⅳ regions in 11 patients, Ⅱ-Ⅲ regions in 8 patients, Ⅰ-Ⅳ regions in 2 patients, and Ⅰ-Ⅲ regions in 1 patient. The total number of dissected lymph nodes ranged from 7 to 69 (average 25.5), and the total number of metastatic lymph nodes ranged from 0 to 4 (average 1.4). The average total drainage volume was 145.8 ml. During the operation, one patient had pharyngocervical communication with the neck, which was sutured without postoperative pharyngeal fistula. After the operation, one patient developed a wound hematoma and improved after bedside drainage and hemostasis. The median follow-up time was 30 months. At the end of follow-up, one patient developed parapharyngeal lymph node recurrence, but no recurrence in the conventional neck dissection area. The 3-year neck control rate was 94.7% and the 3-year overall survival rate was 83.3%. The median satisfaction score for appearance was 10 points.Conclusion:Robot-assisted neck dissection via the retroauricular approach for head and neck squamous cell carcinoma can achieve good oncological and functional outcomes, with fewer postoperative complications and higher patient appearance satisfaction.

Objective:To explore the genetic etiology for a Chinese pedigree affected with X-linked cardiac valve dysplasia (CVDPX) and chronic idiopathic intestinal pseudo-obstruction (CIIPX).Methods:A pedigree presented at the First Hospital of Lanzhou University in June 2024 for CVDPX combined with CIIPX was selected as the study subject. Whole exome sequencing (Trio-WES) was carried out, and the candidate variant was verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the First Hospital of Lanzhou University (Ethics No. LDYYSZLLKH2024-15).Results:Both the proband and his affected younger brother were found to harbor a hemizygous c. 443A>G (p.Tyr148Cys) variant of the FLNA gene, for which their mother was heterozygous and their father was not a carrier, suggesting an X-linked recessive inheritance pattern. The variant was not recorded by the OMIM and ClinVar databases, and was determined to be likely pathogenic (PM2+ PS4+ PP2+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The patients had presented with typical CVDPX/CIIPX phenotype, including multiple valve dysplasia and chronic pseudo intestinal obstruction, in addition with gallbladder wall edema and thickening. Bioinformatic analysis showed that the variant site is highly conserved, and multiple algorithms had predicted its pathogenicity. Conclusion:This study confirmed the diagnosis of CVDPX/CIIPX in a Chinese pedigree, expanded the phenotype spectrum of FLNA gene variants, and provided a basis for genetic counseling and prenatal diagnosis for the pedigree.

Objective:To investigate the complications of transoral robotic surgery (TORS) and to identify the risk factors for the complications.Methods:This was a retrospective study of 134 cases of head and neck tumors underwent TORS at the Department of Surgery of Beijing United Family Hospital from September 2017 to June 2024. There were 9 cases of benign tumors and 125 cases of malignant tumors, including 119 squamous cell carcinomas, 3 adenocarcinomas, 2 lymphomas, and 1 sarcoma. There were 37 cases of pure TORS and 96 cases of TORS combined with neck dissection. Postoperative complications within 90 days were collected and graded with the Clavien-Dindo system. χ2 test was used for statistical analysis. Results:A total of 25 (18.7%) cases experienced surgical complications, including 9 cases with Clavien-Dindo grade≥Ⅲ complications. Postoperative complications included 2 cases of death, 3 cases of massive hemorrhage, 3 cases of pharyngeal fistula, 2 cases of aspiration pneumonia, 2 cases of minor bleeding, 1 case of tooth injury, 1 case of arytenoid dislocation, 2 cases of tongue laceration, and 10 cases of long-term (>3 months) tracheostomy open. Postoperative pharyngeal fistula was significantly correlated with the scope of neck dissection ( χ2=9.86, P<0.05), and Clavien-Dindo grade≥Ⅲ complications were significantly correlated with the scope of neck dissection ( χ2=13.91, P<0.05) and tumor N stage ( χ2=14.33, P<0.05). Conclusion:The high N-stage and neck dissection involving more than three regions are risk factors for the complications of TORS for head and neck tumors.

Objective:To evaluate the effectiveness and safety of robot-assisted neck dissection via retroauricular approach for head and neck squamous cell carcinoma patients.Methods:A retrospective analysis was conducted on 22 patients with head and neck squamous cell carcinoma who underwent robot-assisted neck dissection via the retroauricular approach at Beijing United Family Hospital from March 2018 to August 2023. Among them, 6 were female and 16 were male, with an age range of 39-75 years. Preoperative staging showed N0 for 9 patients (41%), N1 for 12 patients (55%), and N2 for 1 patient (4%). The relevant clinical pathological and follow-up data were collected, and the effectiveness and safety of this surgical approach were analyzed. Kaplan Meier method was used to analyze the patient survival rate.Results:All patients were completed the robot-assisted neck dissection without conversion to open neck surgery, including the dissections of Ⅱ-Ⅳ regions in 11 patients, Ⅱ-Ⅲ regions in 8 patients, Ⅰ-Ⅳ regions in 2 patients, and Ⅰ-Ⅲ regions in 1 patient. The total number of dissected lymph nodes ranged from 7 to 69 (average 25.5), and the total number of metastatic lymph nodes ranged from 0 to 4 (average 1.4). The average total drainage volume was 145.8 ml. During the operation, one patient had pharyngocervical communication with the neck, which was sutured without postoperative pharyngeal fistula. After the operation, one patient developed a wound hematoma and improved after bedside drainage and hemostasis. The median follow-up time was 30 months. At the end of follow-up, one patient developed parapharyngeal lymph node recurrence, but no recurrence in the conventional neck dissection area. The 3-year neck control rate was 94.7% and the 3-year overall survival rate was 83.3%. The median satisfaction score for appearance was 10 points.Conclusion:Robot-assisted neck dissection via the retroauricular approach for head and neck squamous cell carcinoma can achieve good oncological and functional outcomes, with fewer postoperative complications and higher patient appearance satisfaction.

At present, most surgeons use release and subcutaneous transposition of the ulnar nerve to treat cubital tunnel syndrome (CuTS). However, subcutaneous transposition of the ulnar nerve is not effective enough and leads to a high rate of recurrence in clinic when CuTS is complicated with elbow osteoarthritis (EOA). Therefore, an appropriate surgical treatment should be adopted as early as possible if the symptoms are not relieved by a conservative treatment in cases of EOA complicated with CuTS. Different surgical methods lead to different physiological environments of the ulnar nerve, resulting in different outcomes. As a result, the recurrence rate of subcutaneous transposition motion is higher in patients with EOA. Surgical submuscular transposition of the ulnar nerve under the muscle significantly reduces its angular formation during elbow flexion, provides it with a more favorable biological environment and a better anatomical position, benefits the vascular reconstruction and regeneration of the injured nerve, and reduces its chance of secondary entrapment, leading to a better prognosis and a lower recurrence rate. This literature review evaluates the surgical methods for patients with CuTS plus EOA in an attempt to provide helpful references for their treatment.