Objective: To evaluate the safety of the simultaneous administration of diphtheria, tetanus and acellular pertussis combined vaccine (DTaP) and group A and C meningococcal polysaccharide vaccine (MPSV-AC), so as to provide a scientific reference for vaccination strategies among school age children. Methods: Vaccination data and adverse reaction data for 2025 were collected from the Fujian Provincial Immunization Program Information Management System and the National Immunization Program Information System. The Chi-square test and Poisson regression model were used to compare the risk of adverse reactions between concurrent and separate vaccination. Results: In 2025, a total of 90 854 doses of DTaP were administered to children who turned 6 years old, with 107 adverse reactions reported, yielding an adverse reaction reporting rate of 117.77 per 100 000. A total of 95 913 doses of MPSV-AC were administered, with 50 adverse reactions reported, yielding an adverse reaction reporting rate of 52.13 per 100 000. All adverse reactions following DTaP and MPSV-AC vaccination in children were common reactions, predominantly local redness, swelling, and induration, with no reported abnormal reactions. The reported rate of common reactions was 112.91 per 100 000 in the concurrent DTaP+MPSV-AC group; in the separate groups, the reported rates of common reactions were 120.75 per 100 000 for DTaP and 17.92 per 100 000 for MPSV-AC, with statistically significant difference ( χ 2=46.23, P < 0.01 ). The risk of common adverse reactions in the simultaneous vaccination group did not differ significantly from that in the DTaP only group ( RR =1.07, P =0.74), but was significantly lower than that in the MPSV-AC only group ( RR =0.16, P <0.01). The risks of fever (11.58 per 100 000), pruritus, rash, myalgia, gastrointestinal symptoms, and other symptoms (23.16 per 100 000) in the simultaneous vaccination group were not significantly different from those in either single vaccine group ( RR-DTaP =0.92, 1.84, RR-MPSV-AC =0.56, 0.35, both P >0.05). The two most frequently reported reactions in both the simultaneous vaccination and DTaP only groups were local redness/swelling (95.54 per 100 000 and 117.20 per 100 000) and induration (31.85 per 100 000 and 42.62 per 100 000) at the injection site. In the simultaneous vaccination group, 92.50% of clinical symptoms occurred within 48 h, and the risks of occurrence at <24 h, 24-<48 h , and ≥48 h were not significantly different from those in the DTaP only group ( RR =1.00, 0.98, 1.43, all P >0.05). Conclusion The simultaneous administration of DTaP and MPSV-AC does not increase the risk of adverse reactions and may serve as a reference for administering both vaccines concurrently in children aged 6 years.

Objective:To explore the clinical phenotypes and genetic characteristics of a pedigree with Distal arthrogryposis type 5D (DA5D) caused by compound heterozygous variants in the ECEL1 gene. Methods:A child (proband) diagnosed with DA5D and his family members (proband′s parents and sister) who was admitted to the Department of Rehabilitation Medicine of Henan Children′s Hospital in July 2022 due to " multiplex distal arthrogryposis" were enrolled into this study. Clinical data of the proband were collected and peripheral blood samples were obtained from the proband and members of his family about 3 mL. Trio-whole genome sequencing (trio-WGS) was carried out to detected the genetic variations of the proband and his family members. The candidate′s pathogenic gene variants were screened and analyzed by Genome Aggregation Database (gnomAD) and other databases. The screened variants wer annotated for clinical phenotypes using databases like the Online Mendelian Inheritance in Man (OMIM). The pathogenicity of the candidate variants was predicted by bioinformatics tools such as Provean. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), pathogenicity ratings were conducted for variant sites. The protein conservation and mutation structure prediction of ECEL1 protein among species were carried out though MEGA-X and PyMOL. The research protocol of this study was reviewed by the Ethics Committee of Henan Provincial Children′s Hospital (Approval No. 2023-H-H01), and informed consent for clinical research was obtained from the guardians of the probands.Results:The proband had multiplex distal arthrogryposis involving hands, feet, knees, and ankles, and had right ptosis, micrognathia, low auricular position, and upturned nose. The parents and sister both had normal phenotypes. Trio-WGS and Sanger sequencing revealed that the child had compound heterozygous variants of paternal c. 1742_c.1743insT and maternal c. 2314T>G, for which the father and sister were carriers of the c. 1742_c.1743insT heterozygous variant and the mother was carrier of c. 2314T>A. Neither mutation site has been reported. According to guidelines of ACMG, the c. 1742_c.1743insT variant was classified as likely pathogenic (PSV1+ PM2_Supporting), and c. 2314T>G was classified as uncertain (PM2_Supporting+ PM3+ PP3). The results of conserved analysis of amino acid residue sequences of ECEL1 protein showed that the missense mutation of the maternal c. 2314T>G(p.Cys772Gly) was highly conserved among humans and other seven species. The protein structure prediction revealed that the c.1742_c.1743insT frameshift mutation led to the protein truncation, and the c. 2314T>G missense mutation resulted in the failure of forming 1 disulfide bond.Conclusion:The compound heterozygous variants of ECEL1 gene were considered to be pathogenic for this DA5D patient, which have expanded the mutational spectrum of the ECEL1 gene and provided a reference for clinical diagnosis as well as genetic counseling for this family.

Objective:To explore the clinical characteristics and genetic etiology of a child with Osteopathia striata with cranial sclerosis (OSCS) due to variant of AMER1 gene. Methods:A child presented at the Affiliated Children′s Hospital of Zhengzhou University in July 2024 due to growth and development retardation was selected as the study subject. A retrospective study was conducted to collect the child′s clinical data. Peripheral blood samples (2 mL each) were collected from the child and her parents, and genomic DNA was extracted for whole exome sequencing (WES). Sanger sequencing was used for the verification of candidate variants. The pathogenicity of variant was rated according to the guidelines from American College of Medical Genetics and Genomics (ACMG). The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No.: 2024-108-001).Results:The patient, a 4-year-and-10-month-old girl, presented with global developmental delay, short stature, cleft palate, distinct facial features, and hearing impairment. WES revealed that she has harbored a heterozygous c. 790_794dup (p.Cys265Trpfs*19) variant of the AMER1 gene, which was not detected in either parent. Based on the guidelines from ACMG, the gene variant was classified as pathogenic (PVS1 + PS2 + PM2_supporting). As the result of a non-triplet base insertion in the coding region of the AMER1 gene, it has converted a codon originally encoding an amino acid into a stop codon, and led to a truncated protein, causing severe alteration and dysfunction of the protein. Conclusion:The child was diagnosed with OSCS for clinical features such as global developmental delay, short stature, cleft palate, distinctive facial features, and hearing impairment, for which the de novo heterozygous frameshift variant AMER1: c. 790_794dup (p.Cys265Trpfs*19) may be accountable. Above finding has expanded the mutational spectrum of OSCS and provided a basis for genetic counseling and prenatal diagnosis for the family.

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of a pedigree with Distal arthrogryposis type 5D (DA5D) caused by compound heterozygous variants in the ECEL1 gene. METHODS: A child (proband) diagnosed with DA5D and his family members (proband's parents and sister) who was admitted to the Department of Rehabilitation Medicine of Henan Children's Hospital in July 2022 due to "multiplex distal arthrogryposis" were enrolled into this study. Clinical data of the proband were collected and peripheral blood samples were obtained from the proband and members of his family about 3 mL. Trio-whole genome sequencing (trio-WGS) was carried out to detected the genetic variations of the proband and his family members. The candidate's pathogenic gene variants were screened and analyzed by Genome Aggregation Database (gnomAD) and other databases. The screened variants were annotated for clinical phenotypes using databases like the Online Mendelian Inheritance in Man (OMIM). The pathogenicity of the candidate variants was predicted by bioinformatics tools such as Provean. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), pathogenicity ratings were conducted for variant sites. The protein conservation and mutation structure prediction of ECEL1 protein among species were carried out though MEGA-X and PyMOL. The research protocol of this study was reviewed by the Ethics Committee of Henan Provincial Children's Hospital (Approval No. 2023-H-H01), and informed consent for clinical research was obtained from the guardians of the probands. RESULTS: The proband had multiplex distal arthrogryposis involving hands, feet, knees, and ankles, and had right ptosis, micrognathia, low auricular position, and upturned nose. The parents and sister both had normal phenotypes. Trio-WGS and Sanger sequencing revealed that the child had compound heterozygous variants of paternal c.1742_c.1743insT and maternal c.2314T>G, for which the father and sister were carriers of the c.1742_c.1743insT heterozygous variant and the mother was carrier of c.2314T>A. Neither mutation site has been reported. According to guidelines of ACMG, the c.1742_c.1743insT variant was classified as likely pathogenic (PSV1+PM2_Supporting), and c.2314T>G was classified as uncertain (PM2_Supporting+PM3+PP3). The results of conserved analysis of amino acid residue sequences of ECEL1 protein showed that the missense mutation of the maternal c.2314T>G (p.Cys772Gly) was highly conserved among humans and other seven species. The protein structure prediction revealed that the c.1742_c.1743insT frameshift mutation led to the protein truncation, and the c.2314T>G missense mutation resulted in the failure of forming 1 disulfide bond. CONCLUSION The compound heterozygous variants of ECEL1 gene were considered to be pathogenic for this DA5D patient, which have expanded the mutational spectrum of the ECEL1 gene and provided a reference for clinical diagnosis as well as genetic counseling for this family.
Humans ; Pedigree ; Arthrogryposis/genetics* ; Male ; Female ; Heterozygote ; Phenotype ; Mutation ; Child ; Metalloendopeptidases

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Osteopathia striata with cranial sclerosis (OSCS) due to variant of AMER1 gene. METHODS: A child presented at the Affiliated Children's Hospital of Zhengzhou University in July 2024 due to growth and development retardation was selected as the study subject. A retrospective study was conducted to collect the child's clinical data. Peripheral blood samples (2 mL each) were collected from the child and her parents, and genomic DNA was extracted for whole exome sequencing (WES). Sanger sequencing was used for the verification of candidate variants. The pathogenicity of variant was rated according to the guidelines from American College of Medical Genetics and Genomics (ACMG). The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No.: 2024-108-001). RESULTS: The patient, a 4-year-and-10-month-old girl, presented with global developmental delay, short stature, cleft palate, distinct facial features, and hearing impairment. WES revealed that she has harbored a heterozygous c.790_794dup (p.Cys265Trpfs*19) variant of the AMER1 gene, which was not detected in either parent. Based on the guidelines from ACMG, the gene variant was classified as pathogenic (PVS1 + PS2 + PM2_supporting). As the result of a non-triplet base insertion in the coding region of the AMER1 gene, it has converted a codon originally encoding an amino acid into a stop codon, and led to a truncated protein, causing severe alteration and dysfunction of the protein. CONCLUSION The child was diagnosed with OSCS for clinical features such as global developmental delay, short stature, cleft palate, distinctive facial features, and hearing impairment, for which the de novo heterozygous frameshift variant AMER1: c.790_794dup (p.Cys265Trpfs*19) may be accountable. Above finding has expanded the mutational spectrum of OSCS and provided a basis for genetic counseling and prenatal diagnosis for the family.
Humans ; Female ; Child, Preschool ; Osteosclerosis/genetics* ; Adaptor Proteins, Signal Transducing/genetics* ; Mutation ; Exome Sequencing ; Retrospective Studies ; Tumor Suppressor Proteins

Objective:To evaluate the safety and feasibility of double-port laparoscopic cholecystectomy (LC) combined with transcystic common bile duct (CBD) exploration using ultrafine choledochoscopy on patients with gallbladder stones and common bile duct stones.Methods:Clinical data of 35 patients undergoing double-port LC combined with transcystic CBD exploration using ultrafine choledochoscopy in Anhui No.2 Provincial People’s Hospital from December 2021 to June 2024 were retrospectively analyzed, including 8 males and 27 females, aged (45.8±18.1) years. In all patients, the diameter of the gallbladder duct was greater than 3 mm, the maximum diameter of the stones was less than 10 mm, and the number of stones was less than 5, and the gallbladder ducts were normal. Magnetic resonance cholangiopancreatography (MRCP) was used to measure the diameter of CBD, the number and the maximum diameter of stones. The operative time, intraoperative blood loss, postoperative anal exhaust time, postoperative hospital stay and complications (including abdominal infection, biliary tract infection, bile leakage, bleeding, etc.) of all patients were analyzed. The incidence of bile duct stenosis, residual stone or stone recurrence were followed up by telephone or outpatient review.Results:MRCP measurement indicated that the common bile duct diameter of patients was (8.1±1.3) mm. Single CBD stone occurred in 27 cases (77.1%, 27/35), and the mean maximum diameter of CBD stones was (3.9±1.3) mm. All patients successfully underwent the procedure. The operative time was (80.1±10.9) min, the intraoperative blood loss was (25.5±10.2) ml, the recovery time of postoperative anal exhaust was (17.3±4.7) h, and the postoperative hospital stay was (2.5±0.6) d. There were no complications such as abdominal and biliary tract infection, bile leakage and bleeding. All patients were followed up for 1-30 months, with a median follow-up time of 12 months. No biliary stricture, residual stones or recurrence occured during the follow-ups.Conclusion:In selected cases, double-port LC combined with transcystic CBD exploration using ultrafine choledochoscopy could be safe and feasible, with less trauma, quick recovery and short operative time.

Objective:To explore the clinical phenotypes and genetic characteristics of a pedigree with Distal arthrogryposis type 5D (DA5D) caused by compound heterozygous variants in the ECEL1 gene. Methods:A child (proband) diagnosed with DA5D and his family members (proband′s parents and sister) who was admitted to the Department of Rehabilitation Medicine of Henan Children′s Hospital in July 2022 due to " multiplex distal arthrogryposis" were enrolled into this study. Clinical data of the proband were collected and peripheral blood samples were obtained from the proband and members of his family about 3 mL. Trio-whole genome sequencing (trio-WGS) was carried out to detected the genetic variations of the proband and his family members. The candidate′s pathogenic gene variants were screened and analyzed by Genome Aggregation Database (gnomAD) and other databases. The screened variants wer annotated for clinical phenotypes using databases like the Online Mendelian Inheritance in Man (OMIM). The pathogenicity of the candidate variants was predicted by bioinformatics tools such as Provean. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), pathogenicity ratings were conducted for variant sites. The protein conservation and mutation structure prediction of ECEL1 protein among species were carried out though MEGA-X and PyMOL. The research protocol of this study was reviewed by the Ethics Committee of Henan Provincial Children′s Hospital (Approval No. 2023-H-H01), and informed consent for clinical research was obtained from the guardians of the probands.Results:The proband had multiplex distal arthrogryposis involving hands, feet, knees, and ankles, and had right ptosis, micrognathia, low auricular position, and upturned nose. The parents and sister both had normal phenotypes. Trio-WGS and Sanger sequencing revealed that the child had compound heterozygous variants of paternal c. 1742_c.1743insT and maternal c. 2314T>G, for which the father and sister were carriers of the c. 1742_c.1743insT heterozygous variant and the mother was carrier of c. 2314T>A. Neither mutation site has been reported. According to guidelines of ACMG, the c. 1742_c.1743insT variant was classified as likely pathogenic (PSV1+ PM2_Supporting), and c. 2314T>G was classified as uncertain (PM2_Supporting+ PM3+ PP3). The results of conserved analysis of amino acid residue sequences of ECEL1 protein showed that the missense mutation of the maternal c. 2314T>G(p.Cys772Gly) was highly conserved among humans and other seven species. The protein structure prediction revealed that the c.1742_c.1743insT frameshift mutation led to the protein truncation, and the c. 2314T>G missense mutation resulted in the failure of forming 1 disulfide bond.Conclusion:The compound heterozygous variants of ECEL1 gene were considered to be pathogenic for this DA5D patient, which have expanded the mutational spectrum of the ECEL1 gene and provided a reference for clinical diagnosis as well as genetic counseling for this family.

Objective:To explore the clinical characteristics and genetic etiology of a child with Osteopathia striata with cranial sclerosis (OSCS) due to variant of AMER1 gene. Methods:A child presented at the Affiliated Children′s Hospital of Zhengzhou University in July 2024 due to growth and development retardation was selected as the study subject. A retrospective study was conducted to collect the child′s clinical data. Peripheral blood samples (2 mL each) were collected from the child and her parents, and genomic DNA was extracted for whole exome sequencing (WES). Sanger sequencing was used for the verification of candidate variants. The pathogenicity of variant was rated according to the guidelines from American College of Medical Genetics and Genomics (ACMG). The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No.: 2024-108-001).Results:The patient, a 4-year-and-10-month-old girl, presented with global developmental delay, short stature, cleft palate, distinct facial features, and hearing impairment. WES revealed that she has harbored a heterozygous c. 790_794dup (p.Cys265Trpfs*19) variant of the AMER1 gene, which was not detected in either parent. Based on the guidelines from ACMG, the gene variant was classified as pathogenic (PVS1 + PS2 + PM2_supporting). As the result of a non-triplet base insertion in the coding region of the AMER1 gene, it has converted a codon originally encoding an amino acid into a stop codon, and led to a truncated protein, causing severe alteration and dysfunction of the protein. Conclusion:The child was diagnosed with OSCS for clinical features such as global developmental delay, short stature, cleft palate, distinctive facial features, and hearing impairment, for which the de novo heterozygous frameshift variant AMER1: c. 790_794dup (p.Cys265Trpfs*19) may be accountable. Above finding has expanded the mutational spectrum of OSCS and provided a basis for genetic counseling and prenatal diagnosis for the family.

Objective:To evaluate the safety and feasibility of double-port laparoscopic cholecystectomy (LC) combined with transcystic common bile duct (CBD) exploration using ultrafine choledochoscopy on patients with gallbladder stones and common bile duct stones.Methods:Clinical data of 35 patients undergoing double-port LC combined with transcystic CBD exploration using ultrafine choledochoscopy in Anhui No.2 Provincial People’s Hospital from December 2021 to June 2024 were retrospectively analyzed, including 8 males and 27 females, aged (45.8±18.1) years. In all patients, the diameter of the gallbladder duct was greater than 3 mm, the maximum diameter of the stones was less than 10 mm, and the number of stones was less than 5, and the gallbladder ducts were normal. Magnetic resonance cholangiopancreatography (MRCP) was used to measure the diameter of CBD, the number and the maximum diameter of stones. The operative time, intraoperative blood loss, postoperative anal exhaust time, postoperative hospital stay and complications (including abdominal infection, biliary tract infection, bile leakage, bleeding, etc.) of all patients were analyzed. The incidence of bile duct stenosis, residual stone or stone recurrence were followed up by telephone or outpatient review.Results:MRCP measurement indicated that the common bile duct diameter of patients was (8.1±1.3) mm. Single CBD stone occurred in 27 cases (77.1%, 27/35), and the mean maximum diameter of CBD stones was (3.9±1.3) mm. All patients successfully underwent the procedure. The operative time was (80.1±10.9) min, the intraoperative blood loss was (25.5±10.2) ml, the recovery time of postoperative anal exhaust was (17.3±4.7) h, and the postoperative hospital stay was (2.5±0.6) d. There were no complications such as abdominal and biliary tract infection, bile leakage and bleeding. All patients were followed up for 1-30 months, with a median follow-up time of 12 months. No biliary stricture, residual stones or recurrence occured during the follow-ups.Conclusion:In selected cases, double-port LC combined with transcystic CBD exploration using ultrafine choledochoscopy could be safe and feasible, with less trauma, quick recovery and short operative time.

Objective:To explore the safety of laparoscopic antegrade modular pancreatosplenectomy (L-RAMPS) through vascular axis approach in the treatment of pancreatic body and tail adenocarcinoma.Methods:The clinical data of 12 patients with pancreatic body and tail adenocarcinoma undergoing L-RAMPS in Department of Hepatobiliary Pancreatic Surgery, Anhui No.2 Provincial People's Hospital from April 2021 to December 2022 were retrospectively analyzed, including eight males and four females, aged (65.8±11.6) years. Data regarding operative time, intraoperative blood loss, anal exhaust time, postoperative hospital stay, lymph node dissection, pathology, and postoperative complications, and survival were analyzed.Results:The procedures were successfully completed in all 12 patients. Eight patients underwent anterior L-RAMPS, four underwent posterior L-RAMPS. In one patient laparoscopic procedure was almost completed, but eventually conversed to open surgery due to vascular invasion. The operative time was (221.5±21.7) min, the intraoperative blood loss was (224.1±125.3) ml, the anal exhaust time was (3.5±1.0) d, and the postoperative hospital stay was (10.0±3.9) d. All patients underwent R 0 resection, and (15.1±3.7) lymph nodes were dissected. Positive lymph nodes were confirmed in four patients. Six patients had postoperative pancreatic fistula. The patients had been followed up for a median time of 9.5 (3.2-15.0) months, and three patients died. Conclusion:The vascular axis approach could optimize the L-RAMPS surgical approach and improve surgical safety.