Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

Objective:To explore the status quo and influencing factors of palliative care self-report practice among oncology nurses and provide references and directions for improving the palliative care practice of oncology nurses.Methods:This is a cross-sectional study. Totally 349 oncology nurses from four hospitals in Hangzhou were selected by convenience sampling from June to December 2022. Data were collected using a general information questionnaire, the Palliative Care Self-Report Practice Scale (PCPS), and the Palliative Care Knowledge Questionnaire. Pearson correlation analysis was used to explore the relationship between PCPS scores and palliative care knowledge scores among oncology nurses. Multiple linear regression analysis was employed to identify the influencing factors of palliative care self-report practice.Results:A total of 349 questionnaires were distributed, with 332 valid responses, resulting in an effective response rate of 95.13% (332/349). The total PCPS score among the 332 oncology nurses was (42.16±4.52). Among the six dimensions, the dyspnea dimension had the highest average item score of (2.85±0.54), while the communication dimension had the lowest average item score of (2.03±0.54). There was a positive correlation between PCPS scores and palliative care knowledge scores ( P<0.01). Multiple linear regression analysis indicated that years of work experience, attitude towards palliative care, understanding of palliative care, and palliative care knowledge scores were influencing factors of palliative care self-report practice among oncology nurses ( P<0.01), accounting for 66.30% of the total variance. Conclusions:The palliative care self-report practice of oncology nurses is at a moderate level and is influenced by various factors. Hospital leaders should provide individualized and diversified palliative care education and training aimed at improving palliative care practices. This should involve multiple approaches and levels to enhance the nurses' mastery of palliative care knowledge and clinical skills, thereby improving the quality of palliative care services and patient satisfaction.

Objective To explore the effective components and possible targets and mechanism of Shenling Baizhu Powder in improving adipose tissue inflammation in children with obesity with the help of network pharmacology and molecular docking method;To conduct preliminary verification through animal experiments.Methods The active components and targets of Shenling Baizhu Powder were screened through the TCMSP database.GeneCards,OMIM,DisGeNET databases were used to obtain the disease targets.An active component-target network was constructed by taking the intersection of drug and disease targets.Protein-protein interaction networks were constructed and core targets were obtained for GO and KEGG pathway enrichment analysis.Molecular docking validation was performed to key components and core targets.Animal experiments were conducted by establishing a model of young obese rats induced by high fat diet,and Shenling Baizhu Powder were given for gavage.The contents of TG and TC in serum and mRNA expressions of TNF-α,IL-1β,INF-γ and Fas in rat adipose tissue of epididymis were detected.Results The key components of Shenling Baizhu Powder to improve the microinflammation of obesity in children were piperlonguminine,acacetin,luteolin,denudatin B,mandenol,inermine,etc.There were 515 common drug-disease targets,and the core targets were TP53,SRC,PIK3R1,HSP90AA1 and PIK3CA.The results of GO enrichment analysis included inflammatory response,positive regulation of MAPK cascade,membrane raft,protein serine/threonine/tyrosine kinase activity,etc.KEGG pathway enrichment analysis results included metabolic,immune,endocrine,cancer and related liver disease signaling pathways.The results of molecular docking showed that the key components could play a regulatory role on the core target.Animal experiments showed that Shenling Baizhu Powder could improve microinflammation and metabolic indexes of model rats.Conclusion Shenling Baizhu Powder can act on multiple targets through various active components and multiple signaling pathways,adjusting inflammatory response and immune process,alleviating insulin resistance,regulating glucose and lipid metabolism,thereby improving adipose tissue inflammatory in children with obesity.

Objective:To identify the risk factors for postoperative pulmonary complications (PPCs) after thoracoscopic lung resection and evaluate the predictive value for the development of PPCs.Methods:The perioperative data of patients, aged≥18 yr, of American Society of Anesthesiologists (ASA) physical statusⅠ-Ⅲ, were obtained through the electronic medical record system.The blood routine within 24 h after surgery was recorded, and systemic immune-inflammation index (SII) was calculated.According to the development of PPCs, the patients were divided into non-PPCs group and PPCs group.Multivariate logistic regression analysis was used to analyze the variables of which P values were less than 0.05 to identify the risk factors for PPCs, and the receiver operating characteristic curve was drawn to evaluate the predictive value of risk factors. Results:A total of 699 patients were enrolled in this study, including 620 patients in non-PPCs group and 79 patients in PPCs group.The results of logistic regression analysis found that body mass index ≥25 kg/m 2, ASA physical status Ⅲ, lung segmental resection, resection of lobes or above, multi-port thoracoscopic surgery and increased postoperative SII were the risk factors for PPCs ( P<0.05 or 0.01). The AUC (95% confidence interval) of postoperative SII in predicting PPCs was 0.636 (0.599-0.671) ( P<0.05), the cut-off value of SII in predicting PPCs was set at 1 052.3, and the sensitivity and specificity were 68.4% and 57.3%, respectively. Conclusions:Body mass index ≥25 kg/m 2, ASA physical status Ⅲ, lung segmental resection, resection of lobes or above, multi-port thoracoscopic surgery and increased postoperative SII are the risk factors for PPCs.Postoperative SII can predict the occurrence of PPCs to a certain extent in the patients undergoing thoracoscopic lung resection.

DNA methylation is an important type of epigenetic modification in eukaryotes. In order to research genome-wide methylation levels and patterns in foxtail millet (Setaria italica), the Methylation Sensitive Amplified Polymorphism (MSAP) analysis (employing double digestion with EcoR I and Hpa II/Msp I) was established and applied in two foxtail millet cultivars (Chaogu 58 and Yugu 1). The results showed that 32 pairs of MSAP primers were selected from 100 MSAP primers, and 1 615 and 1 482 clearly distinguishable and reproducible bands were amplified from Chaogu 58 and Yugu 1 respectively, including 3 types of methylation patterns. Cytosine methylation levels of CCGG context in Chaogu 58 and Yugu 1 were characterized as 6.93% and 8.77% respectively. Such different genomic DNA methylation levels between two foxtail millet varieties may provide a preliminary reference for the cultivation of this crop from a novel epigenetic viewpoint.
DNA Methylation ; Genome, Plant ; Genomics ; Polymorphism, Genetic ; Setaria Plant

The mPing family is the first active MITE TE family identified in rice genome. In order to compare the compositions and distributions of mPing family in the genomes of two rice subspecies japonica (cv. Nipponbare) and indica (cv. 93-11), we initially estimated the copy numbers of mPing family in those two subspecies using Southern blot and then confirmed the results by searching homologous copies in each reference genome using Blastn program, which turned out to have 52 and 14 mPing copies in corresponding reference genome, respectively. All mPing members in Nipponbare genome belong to mPing-1, while there are 3 mPing-1 and 11 mPing-2 copies in 93-11 genome. By further investigating the 5-kb flanking sequences of those mPing copies, it was found that 23 and 3 protein-coding genes in Nipponbare and 93-11 genome are residing adjacent to those mPing copies respectively. These results establish the preliminary theoretical foundation for further dissecting the genetic differences of japonica and indica rice in terms of the diversities and distributions of their component mPing.
Animals ; DNA Transposable Elements ; genetics ; Genome, Plant ; Oryza ; classification ; genetics

Objective To investigate the clinical effect of the bone graft fusion of the posterior lumbar interbody fusion (PLIF) combined with posterolateral fusion(PLF) in treating lumbar spondylolisthesis .Methods 63 cases of lumbar spondylolisthesis were performed the posterior unilateral or bilateral vertebral plate resection ,nerve root canal decompression ,clearing the slippage space , reduction ,fixation short-segment vertebral pedicle nail-stick system for reduction and fixation ,bone graft fusion with the interverte-bral space Cage and posterior-lateral bone graft fusion ,vertebral pedicle isthmus cracking was performed the clearance and bone graft fusion(PLIF combined with PLF ) .The JOA scores ,lumbar lordosis ,segment lordosis ,intervertebral space height ,slippage rate and complications were recorded before operation ,in postoperative 1 week ,6 ,12 months .Results All cases had no serious complications .The JOA scores were increased to some different degrees from the beginning of postoperative 1 week ,with the reha-bilitation time extension ,the JOA scores were gradually increased ,the improvement rate of the postoperative JOA score averaged 85 .00% .The lumbar lordosis ,segment lordosis ,intervertebral space height and slippage rate after operation were significantly im-proved compared with before operation ,the fusion failure rate was 4 .76% .Conclusion The bone graft fusion of PLIF combined with PLF is one of ideal methods to treat lumbar spondylolisthesis .

Objective To investigate the relationship between the expression of KAI1 mRNA and the clinicopathological parameters and prognostic outcome of patients with gastric Callcer. Methods The expressions of KAI1 mRNA in 70 samples of gastric cancer tissue and 18 samples of benign gastric lesion were detected by in situ hybridization.Results The positive rates of KAI1 mRNA expression in benign gastric lesion and gastric cancer tissue were 94%(17/18)and 31%(22/70),respectively.The expression of KAI1 mRNA was influenced by tumor difierentiation degree and the state of lymph node metastasis.The positive rate of KAI1 mRNA expression was gradually decreased as the increase of invasion depth and the tumor clinical stages.The 5-year survival rate of patients with positive expression of KAI1 mRNA WaS higher than these with negative expression of KAI1 mRNA.Conclmions The less and down-regulation of KAI1 gene expression may be involved in the occurrence and development of gastric cancer.KAI1 gene might be a valuable indicator for early diagnosis and predicting the malignancy and metastasis potential of gastric cancer and the prognosis of patients with gastric cancer.

BACKGROUNDThere is no effective regimen for recurrent small cell lung cancer patients now. The aim of this study is to assess the activity and toxicity of topotecan combined with cisplatin in the treatment of recurrent small cell lung cancer patients.

METHODSTwenty-eight patients with progressive disease after one first-line regimen enrolled in the study from May 2002 to October 2004. Topotecan was given at the dose of 1.2mg/m² from 1st to 4th days and cisplatin was administered at the dose of 25mg/m² from 5th to 7th days in a cycle of 3 weeks. The patients could be evaluated at least after 2 cycles.

RESULTSOne patient got complete response and ten patients got partial response in this group. The overall response rate was 39.3% , and the response rate of refractory group and sensitive group was 37.5% (3/8) and 40.0% (8/20) respectively. The median time to progression was 4.2 months. The main toxicity was hematological toxicity. Grade III+IV neutropenia occurred in 42.9% (12/28) of the patients.

CONCLUSIONSThe regimen of topotecan and cisplatin shows better activity in retreated small cell lung cancer patients. The main toxicity is hematological toxicity and can be tolerated.