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). 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 identify and characterize the chemical ingredients of Anchang formulation,further screen the active ingredients of this formulation treating ulcerative colitis by network pharmacology,and explore the potential targets and pathways,provi-ding scientific basis for its mechanism research and clinical application.METHODS Chemical ingredients in Anchang formulation were acquired by Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS)technology and literature retrieval.The potential active ingredients and key targets for the treatment were obtained from Swiss Target Prediction,GeneCards,STRING,and then Gene Ontology(GO)function and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment were analyzed in the DAVID database.The interactions between the active ingredients and the core targets were verified by using the AutoDock software.The RAW 264.7 murine-derived macrophage inflammation model was also established to val-idate the anti-inflammatory activity of the pre-screened chemical ingredients and further explore the related mechanisms.RESULTS In this study,108 chemical ingredients of Anchang formulation were characterized by UPLC-Q-TOF-MS technology,and expanded to 134 through literature search.The component-target network where 39 core active components were screened was further constructed,and 15 key therapeutic targets were screened by the protein-protein interaction network constructed.The enrichment analysis of KEGG pathway indicated that Anchang formulation can regulate TNF,PI3K-Akt,MAPK,cancer and other related signaling pathways and ex-ert a therapeutic effect.The results of cell experiments showed that Anchang formulation and its active ingredients could inhibit the re-lease of NO,TNF-α and IL-6 in the LPS-induced RAW 264.7 cell inflammation model.CONCLUSION Based on the concept of"ingredient-target-pathway",this study evaluates the anti-inflammatory effect of Anchang formulation and its active ingredients,pre-dicts the potential mechanism of treatment for UC,and provides a theoretical basis and research ideas for the quality control of the for-mulation and its treatment for UC.

Objective:To evaluate the clinical effect of transforaminal endoscopic spine system (TESSYS) technique in treating single-level lumbar spinal stenosis (LSS) based on computed tomography (CT) imaging and traumatic stress indicators. Methods:A total of 112 patients with single-level LSS admitted to The Third Hospital of Qinhuangdao from June 2019 to June 2021 were selected,and they were divided into observation group and control group by random number table method,with 56 cases in each group. The observation group was treated with TESSYS technique,and the control group was treated with "broad easy immediate surgery (BEIS)" technique of intervertebral foramen scope. The indicators of CT imaging of spinal canal area and protrusion ratio,as well as traumatic stress indicators included lactate dehydrogenase (LDH),myoglobin (MYO) and cortisol (COR),of two groups were compared before and 1 week after surgery. Oswestry Disability Index (ODI),Visual Analogue Scale (VAS) score and Japanese Orthopaedic Association (JOA) Scores were compared between the two groups. Excellent rates of treatment and postoperative complications of two groups were compared at the 6 th month after surgery. Results:The average hospital stay and operation time of observation group were respectively (4.29±1.08)d and (93.53±22.01)min,which were significantly shorter than (6.61±1.72)d and (112.29±26.68)min of control group,and the intraoperative blood loss of observation group was (30.15±8.26) ml,which was shorter than that (41.35±11.58) ml of control group,and the differences of them between two groups (t=8.548,4.059,5.892,P<0.05),respectively. At the 1st week after surgery,the ODI and VAS scores of observation group were lower than those of control group,and the JOA score was higher than that of control group,and the differences of them between two groups were significant (t=9.443,t=8.969,6.084,P<0.05),respectively. At the 3rd month after surgery,the ODI and VAS scores of observation group were respectively lower than those of control group,and JOA score of observation group was higher than that of control group,and the differences of them were significant (t=9.706,3.753,5.894,P<0.05),respectively. The rate of excellent and good treatment of observation group was 94.64％,which was higher than that (80.36％) of control group,and the differences of them between the two groups were statistically significant (t=5.225,P<0.05). At the 1st week after surgery,the vertebral canal area of observation group was larger than that of control group,and the ratio of protrusion invasion was less than that of control group,and the differences of them between the two groups were statistically significant (t=3.404,5.578,P<0.05),respectively. At the 1st d after surgery,the serum LDH,MYO and COR levels of observation group were lower than those of control group,and the differences of them between two groups were statistically significant (t=7.570,9.687,5.242,P<0.05),respectively. At the 3rd d after surgery,the serum LDH,MYO and COR levels of observation group were respectively than those of control group,and the differences of them between two groups were significant (t=6.856,9.729,2.744,P<0.05). There was no significant difference in complication rate between the two groups (P>0.05). Conclusion:Compared with BEIS technique,TESSYS technique has the advantages of less trauma,faster postoperative recovery and higher excellent and good rate in treating single-segment LSS,which can alleviate stress reaction of early postoperative trauma. Its comprehensively clinical efficacy is ideal.

Objective:To evaluate the clinical effect of transforaminal endoscopic spine system (TESSYS) technique in treating single-level lumbar spinal stenosis (LSS) based on computed tomography (CT) imaging and traumatic stress indicators. Methods:A total of 112 patients with single-level LSS admitted to The Third Hospital of Qinhuangdao from June 2019 to June 2021 were selected,and they were divided into observation group and control group by random number table method,with 56 cases in each group. The observation group was treated with TESSYS technique,and the control group was treated with "broad easy immediate surgery (BEIS)" technique of intervertebral foramen scope. The indicators of CT imaging of spinal canal area and protrusion ratio,as well as traumatic stress indicators included lactate dehydrogenase (LDH),myoglobin (MYO) and cortisol (COR),of two groups were compared before and 1 week after surgery. Oswestry Disability Index (ODI),Visual Analogue Scale (VAS) score and Japanese Orthopaedic Association (JOA) Scores were compared between the two groups. Excellent rates of treatment and postoperative complications of two groups were compared at the 6 th month after surgery. Results:The average hospital stay and operation time of observation group were respectively (4.29±1.08)d and (93.53±22.01)min,which were significantly shorter than (6.61±1.72)d and (112.29±26.68)min of control group,and the intraoperative blood loss of observation group was (30.15±8.26) ml,which was shorter than that (41.35±11.58) ml of control group,and the differences of them between two groups (t=8.548,4.059,5.892,P<0.05),respectively. At the 1st week after surgery,the ODI and VAS scores of observation group were lower than those of control group,and the JOA score was higher than that of control group,and the differences of them between two groups were significant (t=9.443,t=8.969,6.084,P<0.05),respectively. At the 3rd month after surgery,the ODI and VAS scores of observation group were respectively lower than those of control group,and JOA score of observation group was higher than that of control group,and the differences of them were significant (t=9.706,3.753,5.894,P<0.05),respectively. The rate of excellent and good treatment of observation group was 94.64％,which was higher than that (80.36％) of control group,and the differences of them between the two groups were statistically significant (t=5.225,P<0.05). At the 1st week after surgery,the vertebral canal area of observation group was larger than that of control group,and the ratio of protrusion invasion was less than that of control group,and the differences of them between the two groups were statistically significant (t=3.404,5.578,P<0.05),respectively. At the 1st d after surgery,the serum LDH,MYO and COR levels of observation group were lower than those of control group,and the differences of them between two groups were statistically significant (t=7.570,9.687,5.242,P<0.05),respectively. At the 3rd d after surgery,the serum LDH,MYO and COR levels of observation group were respectively than those of control group,and the differences of them between two groups were significant (t=6.856,9.729,2.744,P<0.05). There was no significant difference in complication rate between the two groups (P>0.05). Conclusion:Compared with BEIS technique,TESSYS technique has the advantages of less trauma,faster postoperative recovery and higher excellent and good rate in treating single-segment LSS,which can alleviate stress reaction of early postoperative trauma. Its comprehensively clinical efficacy is ideal.

OBJECTIVE To identify and characterize the chemical ingredients of Anchang formulation,further screen the active ingredients of this formulation treating ulcerative colitis by network pharmacology,and explore the potential targets and pathways,provi-ding scientific basis for its mechanism research and clinical application.METHODS Chemical ingredients in Anchang formulation were acquired by Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MS)technology and literature retrieval.The potential active ingredients and key targets for the treatment were obtained from Swiss Target Prediction,GeneCards,STRING,and then Gene Ontology(GO)function and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment were analyzed in the DAVID database.The interactions between the active ingredients and the core targets were verified by using the AutoDock software.The RAW 264.7 murine-derived macrophage inflammation model was also established to val-idate the anti-inflammatory activity of the pre-screened chemical ingredients and further explore the related mechanisms.RESULTS In this study,108 chemical ingredients of Anchang formulation were characterized by UPLC-Q-TOF-MS technology,and expanded to 134 through literature search.The component-target network where 39 core active components were screened was further constructed,and 15 key therapeutic targets were screened by the protein-protein interaction network constructed.The enrichment analysis of KEGG pathway indicated that Anchang formulation can regulate TNF,PI3K-Akt,MAPK,cancer and other related signaling pathways and ex-ert a therapeutic effect.The results of cell experiments showed that Anchang formulation and its active ingredients could inhibit the re-lease of NO,TNF-α and IL-6 in the LPS-induced RAW 264.7 cell inflammation model.CONCLUSION Based on the concept of"ingredient-target-pathway",this study evaluates the anti-inflammatory effect of Anchang formulation and its active ingredients,pre-dicts the potential mechanism of treatment for UC,and provides a theoretical basis and research ideas for the quality control of the for-mulation and its treatment for UC.

Objective To analyze the clinical efficacy and its effect on immune function and cytokines of ω-3 polyunsaturated fatty acid (PUFA) in the treatment of preterm infants<32 weeks and birth weight<1500g.Methods The clinical data of preterm infants with birth gestational age<32 weeks and birth weight<1500g admitted to the neonatal intensive care unit of Ningbo Women and Children's Hospital from January 2018 to January 2023 were retrospectively analyzed,and divided into ω-3 group (n=80) and ω-6 group (n=80) according to the type of fatty acid used for treatment.ω-6 group of preterm infants were given nutritional support with ω-6PUFA,while ω-3 group of preterm infants were given nutritional support with ω-3PUFA.The efficacy,complication rate,immune function and cytokine level before and after treatment were compared between two groups.Results On the 7th day after birth,the levels of C-reactive protein,lactic acid (Lac),total bile acids,interleukin-8 (IL-8) and on the 14th day after birth,Lac,IL-8,tumor necrosis factor-α,retinopathy,and necrotizing enterocolitis complications in ω-3 group were lower than those in ω-6 group and the use of oxygen was shorter;The CD4/CD8 levels were higher in the ω-6 group.Conclusion ω-3PUFA have remarkable efficacy in nutritional support of preterm infants,which can effectively regulate immune function and inhibit the release of inflammatory factors,with fewer complications and higher safety.

Objective:To investigate the safety and effectiveness of the laparoscopic hepatectomy guided by three-dimensional visualization technology for treating hepatolithiasis in military flying personnel and to discuss the aeromedical assessment.Methods:The diagnosis and treatment of a military flying personnel with hepatolithiasis admitted to the Air Force Medical Center in December of 2021 and the conclusions of aeromedical assessment were analyzed. The literature was reviewed in combination with the progress of new technologies.Results:This case, a 40-year-old male helicopter aerial machinist, had been found gallbladder stones for 12 years, hepatolithiasis for 8 years, and intermittent right upper abdominal pain for more than 3 months. Ultrasound and CT examination showed multiple gallbladder stones, intrahepatic bile duct stones in the right posterior lobe of the liver with bile duct dilatation. Under the guidance of three-dimensional visualization technology, laparoscopic liver segment 6 precise resection, cholecystectomy, common bile duct exploration and stone removal, and T-tube drainage were performed. The patient was well recovered and waivered to flight after 6 months of the operation. As of the submission date, he has safely flown for 50 h.Conclusions:Laparoscopic anatomical hepatectomy guided by three-dimensional visualization technology in the military flying personnel with hepatolithiasis shows good safety and effect, and those who recover well after surgery can be waivered to flight.

Objective:To investigate the safety and effectiveness of the laparoscopic hepatectomy guided by three-dimensional visualization technology for treating hepatolithiasis in military flying personnel and to discuss the aeromedical assessment.Methods:The diagnosis and treatment of a military flying personnel with hepatolithiasis admitted to the Air Force Medical Center in December of 2021 and the conclusions of aeromedical assessment were analyzed. The literature was reviewed in combination with the progress of new technologies.Results:This case, a 40-year-old male helicopter aerial machinist, had been found gallbladder stones for 12 years, hepatolithiasis for 8 years, and intermittent right upper abdominal pain for more than 3 months. Ultrasound and CT examination showed multiple gallbladder stones, intrahepatic bile duct stones in the right posterior lobe of the liver with bile duct dilatation. Under the guidance of three-dimensional visualization technology, laparoscopic liver segment 6 precise resection, cholecystectomy, common bile duct exploration and stone removal, and T-tube drainage were performed. The patient was well recovered and waivered to flight after 6 months of the operation. As of the submission date, he has safely flown for 50 h.Conclusions:Laparoscopic anatomical hepatectomy guided by three-dimensional visualization technology in the military flying personnel with hepatolithiasis shows good safety and effect, and those who recover well after surgery can be waivered to flight.