Chromosomal karyotyping analysis has been considered as the gold standard for cytogenetic diagnosis and an effective measure for preventing birth defects. However, conventional karyotyping analysis relies heavily on manual recognition, which is time-consuming and labor-intensive. The application of an efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system in clinical practice can significantly reduce the analysis time and greatly improve the efficiency, increase the detection rate for low-percentage mosaicisms, and promote homogenization between laboratories. This can effectively enhance the capacity and level of cytogenetic diagnosis. With the continuous application of such system in the field of karyotyping analysis, a substantial amount of clinical application data and experience has been accumulated. This consensus has been formulated after multiple rounds of discussion by experts from the clinical application collaboration group of the efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system. It aims to provide a reference for peers to better utilize intelligent auxiliary diagnosis systems during chromosomal karyotyping analysis and promote the standardized development of karyotyping analysis technology.

Epilepsy is a common comorbidity of brain tumors; however, little is known about the prevalence, onset time, semiology, and risk factors of seizures in primary CNS lymphoma (PCNSL). Our objectives were to determine the prevalence of epilepsy in PCNSL, to identify factors associated with epilepsy, and to investigate the prognostic significance of seizures in PCNSL. We performed an observational, retrospective single-center study at a tertiary neuro-oncology center (2011-2023) including immunocompetent patients with PCNSL and no history of seizures. We collected clinical, imaging, and treatment data; seizure status over the course of PCNSL; and oncological and seizure outcome. The primary outcome was to determine the prevalence of epilepsy. Furthermore, we aimed to identify clinical, radiologic, and treatment-related factors associated with epilepsy. Univariate analyses were conducted using the χ2 test for categorical variables and unpaired t test for continuous variables. Predictors identified in the unadjusted analysis were included in backward stepwise logistic regression models. We included 330 patients, 157 (47.6%) were male, median age at diagnosis was 68 years, and the median Karnofsky Performance Status score was 60. Eighty-three (25.2%) patients had at least 1 seizure from initial diagnosis to the last follow-up, 40 (12.1%) as the onset symptom, 16 (4.8%) during first line of treatment, 27 (8.2%) at tumor progression and 6 (1.8%) while in remission. Focal aware seizures were the most frequent seizure type, occurring in 43 (51.8%) patients. Seizure freedom under antiseizure medication was observed in 97.6% patients. Cortical contact (odds ratio [OR] 8.6, 95% CI 4.2-15.5, p < 0.001) and a higher proliferation index (OR 5.7, 95% CI 1.3-26.2, p = 0.02) were identified as independent risk factors of epilepsy. Patients with PCNSL and epilepsy had a significantly shorter progression-free survival (median progression-free survival 9.6 vs 14.1 months, adjusted hazard ratio 1.4, 95% CI 1.0-1.9, p = 0.03), but not a significantly shorter overall survival (17 vs 44.1 months, log-rank test, p = 0.09). Epilepsy affects a quarter of patients with PCNSL, with half experiencing it at the time of initial presentation and potentially serving as a marker of disease progression. Further research is necessary to assess the broader applicability of these findings because they are subject to the constraints of a retrospective design and tertiary center setting.

The essay defines needs analysis as a comprehensive process for acquiring learner and communication task information, encompassing learner proficiency, learning styles, language goals, cultural factors, resource availability, and learning outcomes. It covers the crucial components of needs analysis and highlights the role in EFL teaching design before, during, and after class, and its impact on continuous professional development among educators. The essay underscores the trans-formative influence of needs analysis in optimizing teaching strategies and enhancing student learning outcomes.

The implementation of curriculum ideological and political education in vocational education is an important component of achieving the goal of "all-round education". This article takes the course of "Mechanical Manufacturing Technology" as an example to deeply analyze the characteristics of the course and the problems that exist in teaching. With "one center, three perspectives, and four civilizations" as the main line, it explores the path and teaching methods of implementing ideological and political education in the course, in order to strengthen students' ideological and moral cultivation and cultivate their craftsmanship spirit.

Placental diseases may affect the outcome of pregnancy and long-term health of the mother and fetus. Fetal fraction is a key indicator for the success of non-invasive prenatal testing, and has been associated with gestational age, body mass index and fetal chromosomal aneuploidies. Many studies have found that fetal fraction is also related to placenta-derived diseases and may become a new predictor for such diseases. This article has summarized the association between the two, with an aim to provide new ideas for the prediction of placental diseases.

To explore the molecular basis for a Chinese pedigree affected with Achromatopsia (ACHM). A pedigree with ACHM which was admitted to the Women and Children's Hospital of Ningbo University on April 14, 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. Related literature was reviewed, and clinical and genetic features of Chinese patients with ACHM due to variants of CNGA3 gene were summarized. WES revealed that the proband and his younger brother had both harbored compound heterozygous variants of the CNGA3 gene, namely c.1190G>T (p.Gly397Val) and c.2013del (p.Gly672ValfsTer69), which were respectively inherited from their mother and father. The c.1190G>T was a known pathogenic variant, whilst the c.2013del was unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2013del variant was predicted to be likely pathogenic (PM2_Supporting+PVS1_Moderate+PM3+PP4). Literature review has identified 41 CNGA3 gene variants among 43 patients from 38 pedigrees, most of which were missense variants and had located in exon 8. Most patients were males, with nystagmus, photophobia, amblyopia and other symptoms during infancy/childhood as the main clinical manifestations, and there was a lack of genotype-phenotype correlation. The c.1190G>T (p.Gly397Val) and c.2013del (p.Gly672ValfsTer69) variants of the GNGA3 gene probably underlay the ACHM in the proband. Discovery of the c.2013del variant has enriched the mutational spectrum of the GNGA3 gene and provided a basis for genetic counseling and reproduction guidance for this pedigree.

This paper explores the key role of affective factors in junior high school students’ English learning, firstly emphasizing the importance of the three affective factors of motivation, interest and anxiety on learning outcomes. Subsequently, it elaborates on the concepts of the three and how these affective factors specifically affect junior high school students’ English learning process, aiming to construct a clear theoretical framework for readers. By combining real case studies, the paper provides an in-depth analysis of the problems encountered by a student in the process of English learning, identifies the affective factors behind them, and proposes targeted strategies to solve them, aiming to share the practical experience with English educators and to promote mutual learning and teaching. Finally, the key points of the whole paper are summarized and expectations are placed on the further application of affective education in English language teaching in the future.

With the continuous deepening of education reform, ideological and political education in the curriculum has become an important component of higher education. As an important discipline in science and engineering, the construction of ideological and political education in mechanical specialized courses has also received widespread attention. At present, there are still some prominent contradictions and problems in the ideological and political construction of mechanical specialized courses in China. This article addresses these contradictory issues and, based on the current situation, proposes specific measures to effectively enhance the ideological and political effects of mechanical specialized courses from multiple dimensions and perspectives, including strengthening ideological and political education awareness, exploring ideological and political elements in courses, clarifying teaching objectives and improving evaluation systems, and strengthening campus cultural construction. The aim is to provide useful references for relevant educators.