AIM: To observe the preliminary application of fully automatic feedback perimeter based on the eye gaze tracking technique in the college students and to verify its test performance.METHODS: Home computer, monitor and eye tracker were used to complete the new automatic feedback perimeter meter. Based on the two characteristic eye movements of fixation and pulsation, the abnormal visual field is determined by analyzing whether the participant perceives the visual target, line-of-sight scan path and the fixation towards the visual target. RESULTS: A total of 63 participants(119 eyes)were collected with valid eye movement data. The average time for all participants was 82.46±14.68 s, the average time for right eyes was 88.21±15.30 s, and average time for the left eyes was 76.42±11.29 s(P<0.05).CONCLUSION: The fully automatic feedback perimeter based on eye gaze tracking technique can realize automatic human-computer interaction, and the detection method is simple and easy, which shortens the time of perimetry and improves the experience of participants.

OBJECTIVE: To evaluate the clinical significance of a hemizygous c.1042-10G>C variant of the SLC9A7 gene NM_001257291.2) previously identified in individuals with neurodevelopmental disorders, and to provide an evidence-based guidance for prenatal genetic counseling. METHODS: Four families presented at the Medical Genetics Center of Henan Provincial People's Hospital between December 2022 and July 2024 were included in this study. Phenotypic information and biological samples were collected from family members. Genomic DNA was extracted and subjected to whole-exome sequencing and copy number variation analysis to identify candidate pathogenic variants. Sanger sequencing was performed for familial co-segregation analysis. Reverse-transcription PCR was used to assess the RNA splicing pattern of the variant in peripheral blood samples. Quantitative PCR was employed to analyze the expression profiles of various SLC9A7 transcripts in fetal brain tissue and peripheral blood samples. Pathogenicity of the variant was classified based on guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2021-171). RESULTS: Six hemizygous males carrying the SLC9A7 c.1042-10G>C variant were identified among the four families, which included three adult males and two male infants with normal phenotypes. Only one affected male from family 3 exhibited global developmental delay, short neck, webbed neck, ocular dysplasia, and congenital corneal leukoma. He also had a history of perinatal asphyxia and carried an additional hemizygous variant HUWE1 c.12283C>G. Reverse-transcription PCR showed no aberrant splicing in heterozygous or hemizygous carriers compared to healthy controls, suggesting that the variant does not affect RNA splicing. Quantitative PCR revealed that NM_001257291.2 is the predominant transcript expressed in fetal brain tissue and peripheral blood. CONCLUSION The SLC9A7 c.1042-10G>C variant does not alter RNA splicing and is present in multiple phenotypically normal males, which supported its classification as a benign variant.
Humans ; Male ; Female ; Genetic Counseling ; Pedigree ; Adult ; DNA Copy Number Variations/genetics* ; Sodium-Hydrogen Exchangers/genetics* ; Exome Sequencing

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of an infertile woman carrying a novel PADI6 gene variant. METHODS: An infertile woman who visited the Medical Genetics Center of Henan Provincial People's Hospital on April 29, 2024 was selected as the study subject. Clinical data of the proband and her family members were collected. Peripheral blood samples were obtained from the proband and her husband for genomic DNA extraction. Whole-exome sequencing (WES) was performed. Candidate variant was verified among the family members by Sanger sequencing. The pathogenicity of candidate variant was classified according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. Relevant literature on the pathogenic variants of the PADI6 gene was reviewed for genotype-phenotype correlation analysis. This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2021-171). RESULTS: The proband was a 35-year-old woman who underwent two oocyte retrieval cycles, yielding a total of five oocytes, with all embryos arrested at day 3 post-fertilization. WES identified a homozygous PADI6 variant, c.367+4_367+7del. In vitro splicing assay confirmed that this variant can cause skipping of exon 3, leading to a frameshift and alterations in the protein structure or premature termination of translation. Literature review identified 12 relevant publications, and the PADI6 c.367+4_367+7del was determined to be a novel variant. CONCLUSION The homozygous PADI6 c.367+4_367+7del variant probably underlay the pathogenesis of infertility in the proband.
Humans ; Female ; Infertility, Female/genetics* ; Adult ; Protein-Arginine Deiminase Type 6/genetics* ; Pedigree ; Exome Sequencing ; Mutation

Objective To assess the clinical utility of single-molecule real-time technology(SMRT)in identifying triplicated α-globin genes and compound variant alleles.Methods A total of 36 samples with tripli-cated α-globin genes were collected.Among them,28 samples were confirmed by PCR flow-through hybridiza-tion and 8 samples were confirmed by Next Generation Sequencing(NGS).These 36 samples included tripli-cated α-globin genes compound variants with cis or trans arrangements unknown,such as αααanti4 2 compoundαcsα(2 cases),αααanti4.2 compound-α3.7(10 cases),and HKαα/--SEA pending confirmation(2 cases),SMRT technology was employed to detect thalassemia gene variants.Additionally,a pedigree with the genotype ofαααanti4.2 compound-α3.7 variant was recruited,including the proband(Ⅱ-1),its father(Ⅰ-1),and mother(Ⅰ-2).PCR flow-through hybridization and SMRT were employed to detect thalassemia gene variants.Results SMRT detected 35 out of 36 samples with triplicated α-globin genes,and 1 sample with quadrupllcated α-globin genes(ααααanti4.2).Among the 2 αααanti4 2 compound αCSα variant samples,both αααanti42 and αCSα were arranged in trans,with a genotype of αααanti4.2/αCSα.Among the 10 αααanti4.2 compound-α3.7 variant samples,9 samples hadαααanti4.2 and-α3.7 in a cis arrangement,with a genotype of HKαα/αα,and 1 sample had αααannti4.2 and-α3.7 in a trans arrangement,with a genotype of αααanti4.2/-α3.7.Compared with PCR flow-through hybridization,SMRT detected one case of a large segment deletion in the β-globin gene and two unknown variants,which led to an increase in the positive detection rate of approximately 10.71％(3/28).The pedigree analysis showed that the proband(Ⅱ-1)inherited αααanti4.2 and-α3.7 variants from his mother(Ⅰ-2),with a genotype of HKαα/αα,con-sistent with the SMRT detection results.Conclusion SMRT can accurately detect triplicated or quadrupllcat-ed α-globin genes,and compound variant alleles.It offers high accuracy,enables one-step identification of cis or trans arrangements,and provides comprehensive coverage of thalassemia gene variations,demonstrating its significant clinical value.

Objective:To investigate the impact of peripheral blood prolymphocyte percentage on the prognosis of patients with chronic lymphocytic leukemia (CLL) .Methods:This study included 300 patients diagnosed with CLL at the Department of Hematology of Jiangsu Provincial People’s Hospital from October 2011 to December 2020. The association between prolymphocyte percentage and other parameters was analyzed, and the optimal cutoff prolymphocyte percentage was determined by X-tile analysis. Further survival analysis and prognostic model construction were used to validate the predictive value of prolymphocyte percentage.Results:Of the 300 eligible patients with CLL who were enrolled, 50 received Bruton tyrosine kinase inhibitors (BTKi) as first-line treatment. The group with higher prolymphocyte percentage comprised more patients in the advanced stages ( P=0.010) and had higher β 2-microglobulin ( P<0.001), unmutated immunoglobulin heavy-chain variable region gene ( P<0.001), and TP53 aberration ( P=0.004). The optimal cutoff percentage of prolymphocytes was 1%. Patients with a prolymphocyte percentage >1% had significantly shorter treatment-free survival (TFS) ( P<0.001) and overall survival time ( P=0.007) than patients with a prolymphocyte percentage ≤1%. On multivariate analysis, prolymphocyte percentage >1% tended to have an independent prognostic value for TFS [ HR=1.405 (95% CI 0.971~2.032), P=0.071]. Compared with the nomogram of CLL international prognostic index (CLL-IPI) alone, the nomogram of CLL-IPI combined with prolymphocyte percentage showed better discrimination (area under the curve: 0.778 vs. 0.637; P=0.006). In addition, patients with a prolymphocyte percentage >1% were more likely to progress after BTKi treatment ( P=0.038) . Conclusion:Peripheral blood prolymphocyte percentage was associated with various clinical and biological parameters and prognosis among patients with treatment-naive CLL.

Objective:To investigate the impact of peripheral blood prolymphocyte percentage on the prognosis of patients with chronic lymphocytic leukemia (CLL) .Methods:This study included 300 patients diagnosed with CLL at the Department of Hematology of Jiangsu Provincial People’s Hospital from October 2011 to December 2020. The association between prolymphocyte percentage and other parameters was analyzed, and the optimal cutoff prolymphocyte percentage was determined by X-tile analysis. Further survival analysis and prognostic model construction were used to validate the predictive value of prolymphocyte percentage.Results:Of the 300 eligible patients with CLL who were enrolled, 50 received Bruton tyrosine kinase inhibitors (BTKi) as first-line treatment. The group with higher prolymphocyte percentage comprised more patients in the advanced stages ( P=0.010) and had higher β 2-microglobulin ( P<0.001), unmutated immunoglobulin heavy-chain variable region gene ( P<0.001), and TP53 aberration ( P=0.004). The optimal cutoff percentage of prolymphocytes was 1%. Patients with a prolymphocyte percentage >1% had significantly shorter treatment-free survival (TFS) ( P<0.001) and overall survival time ( P=0.007) than patients with a prolymphocyte percentage ≤1%. On multivariate analysis, prolymphocyte percentage >1% tended to have an independent prognostic value for TFS [ HR=1.405 (95% CI 0.971~2.032), P=0.071]. Compared with the nomogram of CLL international prognostic index (CLL-IPI) alone, the nomogram of CLL-IPI combined with prolymphocyte percentage showed better discrimination (area under the curve: 0.778 vs. 0.637; P=0.006). In addition, patients with a prolymphocyte percentage >1% were more likely to progress after BTKi treatment ( P=0.038) . Conclusion:Peripheral blood prolymphocyte percentage was associated with various clinical and biological parameters and prognosis among patients with treatment-naive CLL.

Currently, the management of domestic laboratory developed test (LDT) is still in the exploration stage, and new plans and ideas need to be investigated that are suitable for our national development. By analyzing encountered issues, combining the actual needs of the government, healthcare reform, and patients, this article proposes that "promoting healthy development of LDT projects and focusing on the organic combination of patients′ interest protection and innovation support" is an important direction for LDT management, around which the new idea for LDT project management is proposed, that is, LDT management model targeting product registration. The core of this management model is to target product registration and to ensure low service fees for patients and continuous real-time data monitoring. Benefit and risk analysis demonstrate that this management model can to a larger extent balance the realistic demands of patients, medical institutions, in vitro diagnostics companies, and government management departments, which benefits promoting the perfection and development of LDT projects in our country.

Objective:To summarize the clinical characteristics in of different antibody subtypes in of patients with antisynthetase syndrome (ASS) complicated with interstitial lung disease (ILD).Methods:A retrospective analysis was conducted on 132 ASS-ILD patients at the First Affiliated Hospital of Nanjing Medical University (Jiangsu Provincial People′s Hospital), encompassing a period from December 2019 to June 2023. The data included were basic demographic information, clinical features, laboratory test results, chest computed tomography (CT) scans, and pulmonary lung function tests. Patients were categorized into distinct subtypes based on anti-aminoacyl tRNA synthetase (ARS) antibodies. Statistical analysis was performed using a t-test for comparing means between two samples with equal variance, the Mann-Whitney U test for non-normally distributed continuous data, and the chi-square ( χ2) test or Fisher′s exact test for categorical variables. Results:The most prevalent subtype of anti-synthetase antibody was anti-histidine antibody (Jo-1), accounting for 60 of 132 cases (45.5%), followed by anti-glycine-based tRNA synthetase antibody (EJ) (33/132, 2 5.0%), anti-tRNA synthase antibody (PL-7) (26/132, 19.7%), anti-alanine-based tRNA synthetase antibody (PL-12) (7.6%, 10/132), anti-isoleucine-tRNA synthase antibody (OJ) (3/132, 2.2%). The presence of anti-Ro-52 antibodies was significantly associated with rapidly progressive ILD. In patients with different subtypes of ASS-ILD, the presence of anti-Jo-1 antibodies is was positive in 28 cases (46.7%), and the combination of infection is was more common than in other groups ( χ2=0.15, P=0.047). The group with positive anti-EJ antibodies has had a significant decline in lung function, and cough is was more common in 31 cases (93.9%) than in other groups ( P<0.05); the group with positive anti-PL-12 antibodies has had a more pronounced decline in lung function than other groups ( P<0.05), and fever (7 cases, 70.0%) wais more common than in other groups ( χ2=0.02, P=0.022). Conclusion:Anti-Jo-1, Anti-PL-7, and Anti-PL-12 antibodies were are observed more frequently in patients with ILD. Furthermore, a significant deterioration in lung function was is observed in patients testing positive for anti-PL-12 and anti-EJ antibodies.

Objective:To investigate the efficacy of postmastectomy radiotherapy (PMRT) for human epidermal growth factor receptor 2 (HER2)-positive T 1-2N 1M 0 breast cancer in the context of HER2-targeted therapy. Methods:This study collected the clinical data of 105 female patients with HER2-positive T 1-2N 1M 0 breast cancer who underwent modified radical mastectomy in the First Affiliated Hospital of Bengbu Medical College from January 2013 to December 2019. Then, the clinical outcomes of these patients were observed, and the prognostic factors and the efficacy of PMRT were analyzed. Results:The median follow-up time was 50 months (ranging from 14 to 107 months), and the 5-year overall survival (OS), local-regional recurrence-free survival(LRFS), and disease-free survival (DFS) were 81.6%, 91.9%, and 76.2%, respectively. The multivariate analysis indicated that independent prognostic factors for OS and DFS include the age, pathologic grade, and tumor size; the independent risk factors for LRFS include positive lymph node ratio (LNR) and hormone receptor (HR) status; and the independent prognostic factor for DFS was PMRT (HR: 2.85, 95% CI: 1.10-8.80, P < 0.05). The subgroup analysis suggested that PMRT significantly improved the OS of various high-risk subgroups ( χ2=4.01-9.18, P < 0.05). However, the further stratified analysis indicated that PMRT only increased the OS of the patients who did not receive HER2-targeted therapy in various high-risk subgroups ( χ2=4.50-6.70, P < 0.05), while there was no statistical difference before and after PMRT for the individuals who received targeted treatment ( P > 0.05). Conclusions:PMRT is an independent prognostic factor for the DFS of patients with HER2-positive T 1-2N 1M 0 breast cancer who underwent modified radical mastectomy. PMRT can improve the OS of high-risk patients with ages < 45 years old, pathologic grade Ⅲ, tumor diameter ≥ 3 cm, LNR > 10%, and HR (-) who received no HER2-targeted therapy. However, the efficacy may be compromised to some extent in the context of the application of HER2-targeted therapy.

Objective:To explore the effects of the deep inspiration breath-hold (DIBH) technique on cardiac dosimetry in internal mammary node irradiation with intensity-modulated radiation therapy (IMN-IMRT) for postoperative left breast cancer.Methods:Totally 23 left breast cancer patients in the First Affiliated Hospital of Bengbu Medical College from Octorber 2021 to July 2022 receiving postoperative IMN-IMRT were enrolled in this study. The changes in dosimetric parameters for their heart and left anterior descending coronary artery (LAD) in the DIBH mode were observed, and the potential factors affecting DIBH effects were analyzed.Results:Compared with the free breath (FB) mode, the DIBH mode manifested a heart volume decrease by 18% ( t = 10.47, P < 0.001), a left lung volume increase by 42% ( t = -14.55, P < 0.001), and significantly reduced dosimetric parameters ( Dmean, Dmax, V5- V30) for the heart and LAD, exhibiting statistically significant differences ( t=-13.38 to -3.30, P<0.05). As indicated by the Pearson correlation analysis, the relative ratio of cardiac dose reduction was positively correlated with that of left lung expansion ( r = 0.82, P < 0.001) and negatively correlated with the patient′age ( r = -0.56, P = 0.005). Conclusions:DIBH can effectively reduce the heart and LAD radiation doses in IMN-IMRT for postoperative left breast cancer and that the patient's age, and the DIBH effects might be affected by the vital capacity.