OBJECTIVE To compare the results of plasma scalpel assisted uvulopalatopharyngoplasty(UP PP) under local anesthesia(PS)with radiofrequency volumetric tissue reduction(RF)in the treatment of obstructive sleep apnea/hypopnea syndrome (OSAHS). METHODS Sixty-nine and 79 patients were treated with PS and RF respectively. They were followed-up for 6 and 12 months after operation and the outcomes of the 2 surgical methods were compared. RESULTS The improvement rates at 6 months after PS and RF were 85.5 % and 83.5 % respectively. There was no significant difference between the 2 methods. The improvement rates at 12 months after PS and RF were 78.3 % and 49.3 % respectively. The difference was significant. No major complication was found. CONCLUSION The long-term outcome of PS is better than that of RF. PS surgery may be comparable with surgery under general anesthesia in some special cases.

Objective To investigate the effect of personality characteristics on near-term postoperative mental health of patients with laryngeal squamous cell carcinoma (LSCC). Methods We included 119 patients with LSCC who underwent surgical treatment. The recent psychological state was assessed by SCL-90, SAS and SDS 5 to 7 days after surgery. The EPQ was used to evaluate the personality characteristics of patients after operation. Multiple linear stepwise regression method was used to analyze the influencing factors of SAS and SDS scores of LSCC patients. Results The postoperative scores of SCL-90, SAS and SDS of LSCC patients were significantly higher than the Chinese norm (P≤0.05). The scores of P scale and N scale in EPQ were higher than the domestic norm (P < 0.01). The scores of somatization, obsessiveness, anxiety, depression, hostility, phobia, paranoia and psychosis were significantly higher than the Chinese norm (P < 0.05). Family income, surgical method, postoperative radiochemotherapy, psychoticism and neuroticism personalities were the influencing factors of postoperative SAS score (P < 0.01). Family income, surgical method, postoperative radiochemotherapy, neurotic personality were the influencing factors of postoperative SDS score (P < 0.01). Conclusion LSCC patients have near-term depression, anxiety and other psychological disorders after operation. In terms of personality, they have psychoticism and neuroticism. Family income, surgical methods, postoperative radiochemotherapy, psychoticism and neuroticism are independent risk factors affecting postoperative SAS and SDS scores.

Objective:To explore the clinical phenotype and genetic characteristics of a patient with Ataxia and vitamin E deficiency syndrome (AVED) due to a variant of TTPA gene. Methods:A patient diagnosed with AVED (proband), intended for assisted reproductive technology for pregnancy in Zhongnan Hospital of Wuhan University in July 2023, was selected as research subject. Clinical data of the proband were collected, and 2 mL of peripheral venous blood samples were collected from the proband and her father and siblings for serum vitamin E level testing. Whole exome sequencing (WES) was carried out. Pathogenic variants were selected based on American public archive of interpretations of clinically relevant variants (ClinVar). Sanger sequencing was performed to validate the candidate variants detected by WES. Pathogenicity of variants was classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and the impact of variants was analyzed using multiple bioinformatics tools including SIFT, Mutation Taster, CADD, and SpliceAI. Information on the protein domains was obtained from ClinVar and dbSNP databases, and a hotspot map for the variants of protein-coding region was constructed. This study was approved by the Medical Ethics Committee of Zhongnan Hospital of Wuhan University (No. 2023068K).Results:The proband has a significantly low serum level of vitamin E (5.186 μ g/mL), while her father and siblings were normal. WES revealed that she has harbored a homozygous missense c. 2T>A(p.0? ) variant of the TTPA gene, for which her father and younger sister were heterozygous carriers. Based on the guidelines from the ACMG, the missense c. 2T>A(p.0? ) variant of the TTPA gene was classified as pathogenic (PVS1+ PM2+ PM3). Multiple bioinformatics tools had predicted this variant to be located in the initiation codon region and may lead to abnormal synthesis of the TTPA protein, indicating it was deleterious. The hotspot map based on ClinVar and dbSNP databases showed an even distribution of variants across 5 structural domains of the TTPA protein, with high conservation of the first amino acid residue across various species. Conclusion:The homozygous c. 2T>A(p.0? ) variant of the TTPA gene probably underlie the AVED in the proband. Above discovery has enriched the mutational spectrum of AVED and provided a basis for the diagnosis, genetic counseling, and assisted reproductive strategies for this family.

Objective:To analyze the clinical features and genetic characteristics of a patient with Shwachman-Diamond syndrome (SDS) due to compound heterozygous variants of SBDS gene.Methods:A female child with SDS who was admitted to the Children's Hospital Affiliated to Zhengzhou University in February 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her elder sister and parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a 1-year-and-1-month-old girl, had mainly manifested with diarrhea, hematochezia, growth retardation and malnutrition, along with increased transaminases and decreased neutrophils and hemoglobin. The anteroposterior X-ray of her left wrist indicated significantly delayed bone age. Colonoscopy revealed that her colorectal mucosa was erosive with oily food residues attached to the intestinal lumen. Genetic testing revealed that she has harbored c. 258+ 2T>C and c. 100A>G compound heterozygous variants of the SBDS gene. The c. 258+ 2T>C variant has derived from her father and known to be pathogenic, whilst the other has derived from her mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 100A>G variant was classified as likely pathogenic (PM1+ PM2_Supporting+ PM3+ PM5+ PP3). Conclusion:The compound heterozygous variants of c. 258+ 2T>C and c. 100A>G probably underlay the SDS in this child. For children with refractory diarrhea, liver damage and growth retardation, SDS should be suspected, and genetic testing can facilitate the diagnosis and treatment.

OBJECTIVE To systematically evaluate the efficacy and safety of vonoprazan in the treatment of gastroesophageal reflux disease， and to provide evidence-based reference for clinical drug use. METHODS Randomized controlled trials （RCTs） about vonoprazan （trial group） versus placebo or proton pump inhibitor （control group） were searched in PubMed， the Cochrane Library， Web of Science， CNKI， Wanfang， VIP and CBM databases from the inception to June， 2022. After literature screening and data extraction， the qualities of included literature were evaluated with bias assessment tool recommended by Cochrane system evaluator manual 5.1.0. Meta-analysis， sensitivity analysis and publication bias analysis were conducted by using RevMan 5.4 software. RESULTS A total of 9 RCTs were included， involving 1 882 patients. The results of meta-analysis showed that： total response rate [OR＝1.94，95%CI（1.45，2.58），P＜0.000 01]， cure rate [OR＝2.27，95%CI（1.33，3.86），P＝0.003] and remission rate [OR＝1.81，95%CI（1.28， 2.55）， P＝0.000 7] of trial group were significantly higher than control group； there was no significant difference in the incidence of adverse drug events， diarrhea， nasopharyngitis， upper respiratory tract infection and alkaline phosphatase elevation between two groups （P＞0.05）. The results of subgroup analysis showed that cure rate of trial group was significantly higher than control group at 2 weeks of treatment （P＜0.05）； at 4 and 8 weeks of treatment， there was no significant difference in the cure rate between two groups （P＞0.05）. There was no statistically significant difference in the cure rate between two groups at 2， 4 and 8 weeks of treatment among the patients with Los Angeles grade A/B （P＞0.05）； among the patients with Los Angeles grade C/D， the cure rate of patients in the trial group was significantly higher than control group at 2， 4 and 8 weeks of treatment （P＜0.05）. The results of sensitivity analysis and publication bias analysis showed that the results of this study were robust and the possibility of publication bias was small. CONCLUSIONS Vonoprazan has a considerable effectiveness and safety in the treatment of gastroesophageal reflux disease.