OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ). METHODS: A child with OFDSⅠ who received treatment at the Women and Children's Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children's Hospital (Ethic No.: EC 2024-063). RESULTS: The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c.710dup (p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child's parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+PS4_Moderate+PM2-Supporting+PM6_Supporting+PP4). CONCLUSION Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c.710dup (p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.
Humans ; Female ; Orofaciodigital Syndromes/genetics* ; Exome Sequencing ; Retrospective Studies ; Mutation ; Child ; Proteins

Objective:To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ).Method:A child with OFDSⅠ who received treatment at the Women and Children′s Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children′s Hospital (Ethic No.: EC 2024-063).Results:The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c. 710dup(p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child′s parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+ PS4_Moderate+ PM2-Supporting+ PM6_Supporting+ PP4). Conclusion:Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c. 710dup(p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.

Objective:To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ).Method:A child with OFDSⅠ who received treatment at the Women and Children′s Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children′s Hospital (Ethic No.: EC 2024-063).Results:The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c. 710dup(p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child′s parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+ PS4_Moderate+ PM2-Supporting+ PM6_Supporting+ PP4). Conclusion:Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c. 710dup(p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.

Objective:To study the changes in serum small molecule metabolites after brucella infection in humans using untargeted metabolomics methods, and screening representative biomarkers. Methods:A total of 109 serum samples collected from January 2019 to December 2021 at the Brucellosis Clinic of the Baotou Center for Disease Control and Prevention were divided into acute phase group ( n = 40), chronic phase group ( n = 35) of brucellosis, and healthy group ( n = 34) based on clinical diagnosis. Ultra-high performance liquid chromatography quadrupole time-of-flight mass spectrometry technology was used to test serum samples and screen for differential metabolites. Receiver operating characteristic curve was used to evaluate the predictive ability of differential metabolites for brucellosis. Enriched pathways were screened using Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway to identify metabolic pathways significantly affected. Results:A total of 17 differential metabolites were screened between the acute phase group and the healthy group, and 12 differential metabolites were screened between the chronic phase group and the healthy group. There were a total of 5 differential metabolites (oleamide, linoleamide, stearamide, palmitoleic acid, α-linolenic acid) statistically significant among the three groups ( F = 16.84, 17.52, 14.31, 13.01, 20.76, P < 0.05). KEGG pathway analysis showed that the differential metabolites in the acute phase group were enriched in metabolic pathways such as ether lipid metabolism, glycerophosphate metabolism, sphingolipid signal and sphingolipid metabolism. The differential metabolites in the chronic phase group were enriched in metabolic pathways such as glycerophosphate metabolism, ether lipid metabolism, protein digestion and absorption metabolism. Conclusion:Untargeted metabolomics methods can screen out serum small molecule metabolites that undergo changes after brucella infection in the human body, including oleamide, linoleamide, stearamide, palmitoleic acid, α-linolenic acid can serve as potential biomarkers to distinguish brucellosis patients from healthy people.

Objective:To use an isokinetic test to objectively evaluate the recovery of muscle strength and endurance after treatment of acute Achilles tendon rupture using a tunnel beneath paratenon.Methods:A retrospective study was conducted of the 23 patients who had been treated at Department of Orthopedics, The Forth Medical Center, General Hospital of Chinese PLA by a tunnel beneath paratenon for acute Achilles tendon rupture from January 2017 to January 2018. They were 22 males and one female, aged from 26 to 60 years (average, 35.7 years), with 11 right and 12 left sides involved. Surgery was performed 0.5 to 7.0 days (average, 2.7 days) after injury. Length of incision, skin necrosis, infection, re-rupture, ankle-hindfoot score of American Orthopedic Foot & Ankle Society (AOFAS) and Achilles tendon total rupture scores (ATRS) were followed up for 18 months. Surgical outcomes were objectively evaluated by an isokinetic test to compare the recovery of muscle strength and endurance between the affected and normal sides.Results:Skin necrosis, infection or re-rupture occurred in none of the patients. Incision length averaged 1.4 cm (from 1 to 2 cm), AOFAS 99.1 (from 93 to 100, giving an excellent and good rate of 100%), and ATRS 97.0 (from 88 to 100). Isokinetic evaluation showed that the peak torques of ankle plantar flexion and dorsal extension at 5 test speeds (30°/s, 60°/s, 90°/s, 120°/s and 240°/s) were not significantly different between the affected and normal sides ( P>0.05). In the endurance test, the total work of ankle plantar flexion was (691.2±258.8) J on the normal side and (670.6±304.2) J on the affected side, showing no significant difference between the 2 sides ( P>0.05); the total work of ankle dorsal extension at the normal side was (407.3±119.2) J, significantly larger than that at the affected side [(362.2±117.5) J] ( P=0.001). Conclusion:An isokinetic test can be used to objectively evaluate the recovery of muscle strength and endurance after treatment of acute Achilles tendon rupture using a tunnel beneath paratenon.

Objective:Although stage of disease is one of the main factors affecting the prognosis of gastric cancer, the prognosis of gastric cancer patients with different biological behaviors is also different, indicating that the biological behavior of gastric cancer is also of great significance. This study explores the clinicopathological characteristics of gastric cancer patients with different biological behaviors in the same TMN stage, and analyzes its impact on the prognosis, so as to provide reasonable and reliable evidences for surgical treatment.Methods:A retrospective cohort study was carried out. Clinicopathological data of patients with advanced gastric cancer undergoing radical surgery at Department of Gastrointestinal Surgery, the First Affiliated Hospital of China Medical University from January 1980 to December 2012 were collected. Case inclusion criteria: (1) advanced gastric cancer confirmed by postoperative pathology; (2) R0 resections; (3) complete follow-up data. Exclusion criteria: (1) history of previous gastric surgery, preoperative adjuvant therapy, and imaging evidence of distant metastasis before surgery; (2) age of patients <18 or > 90 years; (3) lack of clinical, pathological, or follow-up data. Cumulative survival was analyzed and plotted by the Kaplan-Meier method. Log-rank test was used for univariate analysis and Cox proportional hazard regression was used for multivariate analysis. Difference of prognosis was compared among different biological behaviors at the same TNM stage.Results:A total of 2522 patients were enrolled, including 246 cases in stage IB (T2N0M0), 422 cases in stage IIA, 474 cases in stage IIB, 681 cases in stage IIIA, 441 cases in stage IIIB, and 256 cases in stage IIIC. Their 5-year survival rates were 79.9%, 68.5%, 56.1%, 39.5%, 22.5%, and 8.1%, respectively, and the difference was statistically significant ( P<0.001). Univariate and multivariate analysis showed that for patients with stage IB gastric cancer, the macroscopic type as infiltration (HR=1.806, 95% CI:1.174-2.780, P=0.007), tissue growth mode as diffusion (HR=1.370, 95% CI:1.007-1.864, P=0.045), and positive lymphovascular cancer embolus (HR=2.073, 95% CI: 1.333-3.224, P=0.001) were independent risk factors of prognosis; for patients with stage IIA gastric cancer, the macroscopic type as infiltration (HR=1.376, 95% CI: 1.008-1.878, P=0.044), tissue growth mode as diffusion (HR=1.263, 95% CI: 1.061-1.505, P=0.009), positive lymphovascular cancer embolus (HR=2.296, 95% CI:1.753-3.008, P<0.001) were independent risk factors of prognosis; for patients with stage IIB gastric cancer, macroscopic type as infiltration (HR=1.445, 95% CI: 1.056-1.976, P=0.021), positive lymphovascular cancer embolus (HR=1.528, 95% CI: 1.194-1.955, P=0.001) were independent risk factors of prognosis; for patients with stage IIIA gastric cancer, macroscopic type as infiltration (HR=1.395, 95% CI: 1.095-1.777, P=0.007), positive lymphovascular cancer embolus (HR=1.583, 95% CI: 1.315-1.905, P<0.001) and serosal type (tendon type+colorful diffusion type) (HR=1.188, 95% CI: 1.102-1.282, P<0.001) were independent risk factors of prognosis; for patients with stage IIIB gastric cancer, macroscopic type as infiltration (HR=1.485, 95% CI: 1.063-2.076, P=0.021), positive lymphovascular cancer embolus (HR=1.315, 95% CI: 1.060-1.631, P=0.013), and serosal type (tendon type+colorful diffusion type) (HR=1.146, 95% CI: 1.052-1.248, P=0.002) were independent risk factors of prognosis; for patients with stage IIIC gastric cancer, macroscopic type as infiltration (HR=2.986, 95% CI: 1.293-6.898, P=0.010) and serosal type (tendon type+colorful diffusion type) (HR=1.135, 95% CI: 1.003-1.283, P=0.045) were independent risk factors of prognosis. Conclusion:Under the same TNM stage, different biological behaviors have very different prognosis, which indicates that the biological behavior of gastric cancer is equally as important as TNM staging for the prognosis of patients and the guidance of individualized treatment.

Objective:Although stage of disease is one of the main factors affecting the prognosis of gastric cancer, the prognosis of gastric cancer patients with different biological behaviors is also different, indicating that the biological behavior of gastric cancer is also of great significance. This study explores the clinicopathological characteristics of gastric cancer patients with different biological behaviors in the same TMN stage, and analyzes its impact on the prognosis, so as to provide reasonable and reliable evidences for surgical treatment.Methods:A retrospective cohort study was carried out. Clinicopathological data of patients with advanced gastric cancer undergoing radical surgery at Department of Gastrointestinal Surgery, the First Affiliated Hospital of China Medical University from January 1980 to December 2012 were collected. Case inclusion criteria: (1) advanced gastric cancer confirmed by postoperative pathology; (2) R0 resections; (3) complete follow-up data. Exclusion criteria: (1) history of previous gastric surgery, preoperative adjuvant therapy, and imaging evidence of distant metastasis before surgery; (2) age of patients <18 or > 90 years; (3) lack of clinical, pathological, or follow-up data. Cumulative survival was analyzed and plotted by the Kaplan-Meier method. Log-rank test was used for univariate analysis and Cox proportional hazard regression was used for multivariate analysis. Difference of prognosis was compared among different biological behaviors at the same TNM stage.Results:A total of 2522 patients were enrolled, including 246 cases in stage IB (T2N0M0), 422 cases in stage IIA, 474 cases in stage IIB, 681 cases in stage IIIA, 441 cases in stage IIIB, and 256 cases in stage IIIC. Their 5-year survival rates were 79.9%, 68.5%, 56.1%, 39.5%, 22.5%, and 8.1%, respectively, and the difference was statistically significant ( P<0.001). Univariate and multivariate analysis showed that for patients with stage IB gastric cancer, the macroscopic type as infiltration (HR=1.806, 95% CI:1.174-2.780, P=0.007), tissue growth mode as diffusion (HR=1.370, 95% CI:1.007-1.864, P=0.045), and positive lymphovascular cancer embolus (HR=2.073, 95% CI: 1.333-3.224, P=0.001) were independent risk factors of prognosis; for patients with stage IIA gastric cancer, the macroscopic type as infiltration (HR=1.376, 95% CI: 1.008-1.878, P=0.044), tissue growth mode as diffusion (HR=1.263, 95% CI: 1.061-1.505, P=0.009), positive lymphovascular cancer embolus (HR=2.296, 95% CI:1.753-3.008, P<0.001) were independent risk factors of prognosis; for patients with stage IIB gastric cancer, macroscopic type as infiltration (HR=1.445, 95% CI: 1.056-1.976, P=0.021), positive lymphovascular cancer embolus (HR=1.528, 95% CI: 1.194-1.955, P=0.001) were independent risk factors of prognosis; for patients with stage IIIA gastric cancer, macroscopic type as infiltration (HR=1.395, 95% CI: 1.095-1.777, P=0.007), positive lymphovascular cancer embolus (HR=1.583, 95% CI: 1.315-1.905, P<0.001) and serosal type (tendon type+colorful diffusion type) (HR=1.188, 95% CI: 1.102-1.282, P<0.001) were independent risk factors of prognosis; for patients with stage IIIB gastric cancer, macroscopic type as infiltration (HR=1.485, 95% CI: 1.063-2.076, P=0.021), positive lymphovascular cancer embolus (HR=1.315, 95% CI: 1.060-1.631, P=0.013), and serosal type (tendon type+colorful diffusion type) (HR=1.146, 95% CI: 1.052-1.248, P=0.002) were independent risk factors of prognosis; for patients with stage IIIC gastric cancer, macroscopic type as infiltration (HR=2.986, 95% CI: 1.293-6.898, P=0.010) and serosal type (tendon type+colorful diffusion type) (HR=1.135, 95% CI: 1.003-1.283, P=0.045) were independent risk factors of prognosis. Conclusion:Under the same TNM stage, different biological behaviors have very different prognosis, which indicates that the biological behavior of gastric cancer is equally as important as TNM staging for the prognosis of patients and the guidance of individualized treatment.

Objective To explore the clinical efficacy of using a tunnel beneath the paratenon to repair chronic Achilles tendon rupture of Myerson type Ⅱ.Methods From August 2008 through January 2018,19 patients with chronic Achilles tendon rupture were treated with a self-designed minimally invasive suture technique at Department of Orthopaedics,The Fourth Medical Center,General Hospital of PLA.They were all male,aged from 25 to 64 years(average,40.4 years).The left side was injured in 12 patients and the right side in 7.The duration from injury to surgery ranged from 28 to 120 days,averaging 60 days.The Achilles tendon defects averaged 3.84 cm.Their clinical diagnoses were confirmed by positive results of clinical examination and magnetic resonance imaging(MRI) scans.After a 2 cm transverse incision was made at the proximal side,the proximal stump beneath the paratenon was adequately released with a periosteum elevator.The proximal stump was sutured by the Bunnell method with an Ethicon-X519 non-absorbable suture under direct vision.After a 1.0-1.5 cm transverse incision was made,percutaneous Bunnell suture was performed at the distal side.The proximal stump was then introduced into the distal incision through the paratenon tunnel.After the affected foot was fully flexed,the 2 stumps were tied closely together and buried under direct vision.Early rehabilitation was encouraged after surgery.The clinical efficacy was assessed according to the ankle-hindfoot scores of American Orthopaedic Foot&Ankle Society(AOFAS) and the Arner-Lindholm evaluation criteria.Results The 19 patients were followed up for 10 months to 9.5 years(average,2.45 years).All the wounds healed at the first stage without any complications related to incision,sural nerve injury or tendon re-rupture.Their AOFAS ankle-hindfoot scores averaged 98.4,with 19 excellent cases;according to the Arner-Lindholm criteria,13 cases were excellent and 6 cases good.Both of the evaluation systems yielded a good to excellent rate of 100%.In the 3 patients who underwent isokinetic testing,there was no significant difference between the normal and affected sides in the peak value of flexion or in the total work of fatigue.Conclusion Using a tunnel beneath the paratenon is a good self-designed minimally invasive suture technique for chronic Achilles tendon rupture of Myerson type Ⅱ because it is simple and reliable,and leads to limited tissue damage,adhesion or complications.

Intraoperative hemorrhage is the most common complication of laparoscopic radical gastrectomy,which is also the main cause of conversion to open surgery.With the popularization of laparoscopic surgery technology worldwide,how to complete high-quality surgery and effectively avoid intraoperative or postoperative complications is the goal pursued by all surgeons.Intraoperative hemorrhage in the laparoscopic radical gastrectomy is mainly divided into parenchymal hemorrhage,perigastric vascular injury-induced hemorrhage,lymph node hemorrhage and anastomotic bleeding.Compression,electrocoagulation,vascular clipping and vascular suture repair are the most common treatments for intraoperative hemorrhage.It is necessary to use above methods in clinical work.Proficiency in laparoscopic operation skills,familiarity with perigastric vascular anatomy and variation,and improved teamwork to reduce complications are the key to laparoscopic surgery for gastric cancer.Combined with literature reports,the authors summarize experience in laparoscopic surgery for gastric cancer,discuss the prevention and treatment of hemorrhagic complications during laparoscopic radical gastrectomy.

Objective To identify Mobiluncus species with matrix-assisted laser desorption/ioniza-tion time-of-flight mass spectrometry (MALDI-TOF MS) and 16S rRNA gene sequencing and to analyze anti-biotic resistance genes and phylogenetic relationships among Mobiluncus species with whole genome sequen-cing. Methods Twenty-five Mobiluncus strains were isolated after anaerobic culture of 65 vaginal secretion samples of patients with bacterial vaginosis (BV) and identified to species level by MALDI-TOF MS and 16S rRNA gene sequencing. The whole genome DNA of each strain was extracted for next-generation sequencing. SPAdes was used to assembly genomes. Resistance genes were searched in ARGD database. The core ge-nome of all isolates was analyzed by Harvest to construct phylogenetic tree. Results MALDI-TOF MS could only identify Mobiluncus curtisii, while 16S rRNA gene sequencing could identify both Mobiluncus mulieris and Mobiluncus curtisii. Results of the whole genome sequencing showed that tetracycline resistance gene tet ( o) and macrolides resistance gene erm(x) were the two predominant acquired resistance genes of Mobilun-cus with a positive rate of 84. 7% and 61. 5% respectively. Intra-species relationships of the two Mobiluncus species were close, but a distant phylogenetic relationship was found between the two species. Conclusion This study shows that MALDI-TOF MS can't be used to identify Mobiluncus mulieris at present. Mobiluncus strains have potential resistance to tetracycline and macrolides. Intra-species evolution of Mobiluncus is slow, which indicates that there is no growing trend towards new species for the time being.