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.

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

Objective To explore the diagnostic value of helical CT,fluid attenuated inversion recovery(FLAIR),magnetic resonance angiography (MRA)and susceptibility weighted imaging (SWI)at 3.0T MR for acute ischemic stroke (AIS).Methods 48 cases of AIS(<72 h)underwent conventional CT,MRI,MRA and SWI.The correlations between hyperdense middle cerebral artery sign (HMCAS),proximal hyperintense vessel sign(HVS),magnetic sensitive spatially-integrated susceptibility vessel sign(SVS),vascular dot middle cerebral artery sign(DMCAS),distal HVS and collateral circulation of the blood vessels surrounding leptomeninges expansion degree were analyzed.Results In 48 AIS cases,HMCAS were showed in 18(37.5%),DMCAS 12(25.0%),proximal HVS 33(68.7%), distal HVS 40(83.3%),SVS 43(89.6%)and surrounding soft meningeal vascular 39(81.2%).The difference between spatially-integrated SVS and HVS was statistically significant (P<0.05);For HVS and HMCAS responsibility blood vessels at the bottom,the difference was statistically significant(P<0.01).For pia mater lesions around the blood vessel and distal HVS display degree,the responsibility of the blood vessels was high consistency(P=0.789).The difference between MCA distal HVS and DMCAS was statistically significant (P<0.01).Conclusion It has obvious consistency for SVS,proximal HVS and HMCAS of MCA on the responsibility of AIS.SWI is better than FLAIR and CT.It has obvious statistical sighificance between DMCAS,HVS and surrounding leptomenings vasodilatiov.

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 value of susceptibility weighted imaging (SWI)combined with three dimensional pseudo continuous arterial spin labeling (3D-PCASL)on the prognosis analysis of acute cerebral infarction.Methods Thirty cases with acute cerebral infarction (< 72 h)underwent conventional MRI,MRA,3D-PCASL and SWI.NIHSS scores were performed at the time of examination and 3 months later.The correlation between the collateral blood vessels,regional cerebral blood flow (rCBF)detected by combination of SWI and 3D-PCASL with clinical prognosis were analyzed.Results Twenty-three cases showed collateral blood vessels in the lesions with 1 grade in 14,and 2 grade in 9.The average rCBFs in grade 0,1,2 infarction areas were (22.69±11.94)mL·100 g-1 ·min-1 ,(25.10±16.55)mL·100 g-1 ·min-1 and (33.04±24.24)mL·100 g-1 ·min-1 ,respectively.Collateral blood vessels,rCBF were positive correlated with the NIHSS scores (r=0.989,P< 0.01).18 cases showed multiple vessels around the lesions. The average rCBFs in the infarction area with or not with periphery collateral blood vessles were (28.33±24.24)mL·100 g-1 ·min-1 and (22.69±11.94)mL·100 g-1 ·min-1 ,respectively.There was a positive correlation between rCBF and NIHSS scores (r=0.897,P<0.01). Of 30 cases of acute cerebral infarction,the average CBFs in the infarct areas and the contralateral mirror areas were (26.92±18.22)mL·100 g-1 · min-1 and (34.22±12.37)mL·100 g-1 ·min-1 .There was significant difference (t=8.093,P<0.01).Conclusion The combination of SWI and 3D-PCASL can display the collateral blood vessels in the lesions and soft meninges,and provide the quantitative analysis of rCBF,which has important clinical significance for prediction of the prognosis of acute cerebral infarction.

Objective To investigate the biomechanical properties of the posterior tibial anatomic plate. Methods A total of 25 fresh frozen adult tibial top and matching femur specimens were randomly divided into four groups. One specimen was used as normal control ( N group), and the remaining 24specimens were with Schatzker Ⅵ tibial plateau fracture and accompanied by rear split and backward fracture displacement. The lateral margin of the tibia was fixed with a L-type plate, and the medial margin was fixed with the same plate after remodeling. The 24 specimens were divided into three groups, eight specimens per group. The posterior margin of the tibia was fixed by posterior tibial anatomic plate ( Group A), T-type plate ( Group B) or straight reconstruction plate ( Group C). The strength, stiffness, torsional biomechanics and failure load performance of the plates in each group were evaluated. Results The strength and stiffness of test groups was superior to that of Group N ( P ＞ 0.05 ), and the torsional biomechanics of test groups was close to that of Group N ( P ＞ 0.05 ). The posterior tibial anatomic plate was superior to T-type plate and straight reconstruction plate in aspects of strength, stiffness, torsional biomechanics and failure load performance ( P ＜ 0.05 ). Conclusions Posterior tibial anatomic plate has excellent biomechanical properties, and it is superior to other materials in treating posterior tibial plateau fracture and restoring the stability of the knee.

Objective　To study the relationship between the expression of p16 and nm23-H1 and clinicopathology in the patients with gastric cancer. 　Methods　p16 and nm23-H1 protein in cancer tissue of 65 patients were observed with labelled streptavidin biotin (LSAB) immunohistochemical method.　Results　The total positive rate of p16 and nm23-H1 was 30.8% and 41.5% respectively in gastric cancer tissues. The positive expression rate of p16 was significantly higher in well-differentiated cancer than in poorly-differentiated cancer (P＜0.05). The positive expression rate of p16 and nm23-H1 was higher in patients with lymph node metastasis than in those without lymph node metastasis(P＜0.05，P＜0.01) and in clinical stage Ⅰ,Ⅱ than in stage Ⅲ (P＜0.05，P＜0.01).The 3-year survival rate was higher in positive cases of p16 or nm23-H1 protein expression (45.0%，51.9%）than in negative ones（28.9%、21.1%）(P＜0.05).There was a significants positive correlation between p16 and nm23-H1 protein expression(r=0.041*!5,P＜0.05).　Conclusions　p16 and nm23-H1 may play a role in the development of gastric cancer and be related to partial biological behavior. Expression of p16 and nm23-H1 may serve as a marker for predicting the cancer metastasis and evaluating the prognosis of gastric cancer patients.

Objective　To study the relationship between the expression of p16 and nm23-H1 and clinicopathology in the patients with gastric cancer. 　Methods　p16 and nm23-H1 protein in cancer tissue of 65 patients were observed with labelled streptavidin biotin (LSAB) immunohistochemical method.　Results　The total positive rate of p16 and nm23-H1 was 30.8% and 41.5% respectively in gastric cancer tissues. The positive expression rate of p16 was significantly higher in well-differentiated cancer than in poorly-differentiated cancer (P＜0.05). The positive expression rate of p16 and nm23-H1 was higher in patients with lymph node metastasis than in those without lymph node metastasis(P＜0.05，P＜0.01) and in clinical stage Ⅰ,Ⅱ than in stage Ⅲ (P＜0.05，P＜0.01).The 3-year survival rate was higher in positive cases of p16 or nm23-H1 protein expression (45.0%，51.9%）than in negative ones（28.9%、21.1%）(P＜0.05).There was a significants positive correlation between p16 and nm23-H1 protein expression(r=0.041*!5,P＜0.05).　Conclusions　p16 and nm23-H1 may play a role in the development of gastric cancer and be related to partial biological behavior. Expression of p16 and nm23-H1 may serve as a marker for predicting the cancer metastasis and evaluating the prognosis of gastric cancer patients.