[A case report of prolonged pneumonia].

Takayasu's arteritis-pulmonary artery involvement (TA-PAI) is a chronic, progressive, inflammatory disease affecting the pulmonary artery and its branches. Patients typically present with non-specific respiratory symptoms, such as fever, dyspnea, and chest pain, leading to a high rate of misdiagnosis. The diagnosis of TA-PAI is currently based on the diagnostic criteria of aortitis and imaging evidence of pulmonary artery involvement. However, pulmonary artery involvement is not typically included in the diagnostic criteria for aortitis, which may lead to a significant underestimation of the diagnostic rate of TA-PAI, particularly in cases where pulmonary artery involvement is the only manifestation. This article reports the case of a 26-year-old female patient who presented with recurrent chest pain and fever. She was initially diagnosed with pneumonia in a foreign hospital but did not show significant improvement after four months of treatment. Eventually, she was diagnosed with pulmonary artery involvement in aortitis and was stabilized with hormones, immunosuppressive drugs, and pulmonary vascular intervention. By analyzing the clinical features and diagnostic and therapeutic approaches of this case, and reviewing the relevant literature, clinicians can improve their understanding of TA-PAI.

[Clinical effect of XEN gel stent implantation or combined with phacoemusification and intraocular lens implantation on glaucoma].

Objective: To evaluate the efficacy and safety of internal XEN gel stent implantation or combined with phacoemusification and intraocular lens (IOL) implantation in the treatment of glaucoma. Methods: It was a retrospective case series study. Forty-five patients (28 males and 17 females; 52 eyes) who had different types of glaucoma treated at the Shenzhen Eye Hospital from December 2021 to June 2023 were included. XEN gel stent implantation (the XEN group) or XEN implantation combined with phacoemusification and IOL implantation (the combined group) were performed in these patients. The postoperative follow-up was 18 months. The observational indexes included the best corrected visual acuity (recorded as the logarithm of the minimum angle of resolution), intraocular pressure (IOP), XEN implantation quadrant, number of IOP-lowering medications, corneal endothelial cell count, operation success rate and surgical complications. The one-way repeated measures of variance, LSD-t test, and rank sum test were used for statistical analysis. Results: There were 28 patients (33 eyes) in the XEN group and 17 patients (19 eyes) in the combined group. The postoperative best corrected visual acuity had no significant change in the XEN group, but improved significantly (0.21±0.30 at 6 months; P<0.05) in the combined group, compared with the preoperative value. The IOP of the two groups at 18 months after surgery [(12.2±3.1) and (11.9±3.9) mmHg (1 mmHg=0.133 kPa)] was significantly lower than that before surgery [(22.1±8.5) and (19.4±10.2) mmHg; P<0.05]. The average number of IOP-lowering medications in all patients was 3 (2, 3) before surgery and 0 (0, 0) at 18 months after surgery. The difference was statistically significant (P<0.05). In the XEN group, the corneal endothelial cell count was (2 387.37±478.22) cells/mm² preoperatively and (2 193.89±311.96) cells/mm² at 12 months. The decrease showed no statistical significance. The XEN gel stent was implanted in the supranasal quadrant in 8 eyes (15.4%), in the inferonasal quadrant in 36 eyes (69.2%), and in the infratemporal quadrant in 8 eyes (15.4%). The operation success rate [complete success rate, 86.5% (45/52); conditional success rate, 9.6% (5/52)] was 96.2% (50/52). The filtering bleb scarring occurred in 9.6% (5/52) of eyes. A small amount of hyphema, postoperative shallow anterior chamber, transient hypertension, and intraoperative drain breakage were found in 7.7% (4/52) of eyes, respectively. A small amount of subconjunctival bleeding was observed in 5.8%(3/52) of eyes. Re-implantation of an XEN gel stent was performed in 5.8% (3/52) of eyes. The intraoperative conjunctival tissue rupture, hypotony macular edema, and drain exposure were observed in 1.9% (1/52) of eyes, respectively. Conclusion: The XEN gel stent implantation or combined with phacoemusification and IOL implantation was effective and safe in treating different types of glaucoma, but its long-term clinical efficacy needs further follow-up observations in multi-center, larger-scale research.

[Electrophysiological properties of neurons in the visual sensory layers of the superior colliculus in early postnatal mice].

Objective: To investigate the action potential firing patterns of neurons in the visual sensory layers of the superior colliculus in early postnatal mice and the electrophysiological characteristics of neurons with different firing patterns. Methods: This experimental study utilized whole-cell patch-clamp recordings performed on neurons in the visual sensory layers of the superior colliculus using brain slices from 57 healthy male C57BL/6J mice aged 14 to 20 days (weighing 5.0 to 8.9 g) using brain slices. In current-clamp mode, action potential characteristics were analyzed based on the first action potential generated by depolarizing current, and the firing patterns of neurons were recorded using step depolarizing currents. Neuronal firing patterns were analyzed using hierarchical clustering, and the active electrical properties of neurons with different firing patterns were compared. Results: A total of 135 neurons from the visual sensory layers of the superior colliculus were successfully recorded. Cluster analysis of the neuronal firing patterns identified three types of firing patterns: tonic firing (97, 72%), phasic firing (26, 19%), and single firing (12, 9%). The number of action potentials for each firing pattern was 13.30±7.38, 3.73±3.61, and 0.83±0.39, respectively, with significant differences (P<0.001). There was no significant difference in the membrane potential response to step currents among the three firing pattern types (P>0.05). The action potential amplitudes were (60.45±12.22), (53.67±13.20), and (44.04± 12.92) mV, and the afterhyperpolarization amplitudes were (13.45±13.79), (12.02±13.11), and (20.75±2.85) mV, respectively. The maximum rising slopes were (171.29±77.46), (130.14±61.83), and (78.89±37.08) V/s, and the maximum falling slopes were (-76.33±33.61), (-68.17±31.65), and (-47.97±13.92) V/s, respectively, with all differences being statistically significant (all P<0.05). There were no significant differences in the resting membrane potential, action potential threshold, half-width, and afterhyperpolarization duration among the three firing pattern types (all P>0.05). Conclusions: In the early postnatal mice, neurons in the visual sensory layers of the superior colliculus exhibit three distinct firing patterns: tonic, phasic, and single firing. These firing pattern types show significant differences in action potential amplitude, afterhyperpolarization amplitude, maximum rising slopes, and maximum falling slopes.

[Role and mechanism of autonomic nervous system regulation in primary glaucoma].

The regulation of blood flow in the human eye, aqueous humor production, and the outflow channels of aqueous humor are all controlled by the autonomic nervous system (ANS), encompassing both sympathetic and parasympathetic nerves. Patients with primary glaucoma often exhibit autonomic nervous system dysfunctions, which may exacerbate visual impairment. The homeostasis of the autonomic nervous system is influenced by circadian rhythms, physical exercise, emotional states, medications, and other factors. Previous studies have indicated that activities such as aerobic exercise, yoga breathing, and meditation can promote the restoration of autonomic nervous system balance, thereby reducing intraocular pressure. However, further evidence is required to substantiate the efficacy of ANS activity regulation as an effective adjunct therapy for primary glaucoma. This review examines the role and mechanisms of autonomic nervous system regulation in the context of primary glaucoma.

[Molecular characteristics of Japanese encephalitis virus carried by Culex tritaeniorhynchus in Dongchuan District, Kunming City, Yunnan Province].

OBJECTIVE: To isolate the Japanese encephalitis virus carried by Culex tritaeniorhynchus in Dongchuan District of Yunnan Province and analyze its molecular characteristics, so as to provide insights into the prevention and control of Japanese encephalitis in Yunnan Province. METHODS: Mosquito specimens were collected using mosquito-trapping lamps from pig farms in Batang Village and Xiaoxin Village, Dongchuan District, Kunming City, Yunnan Province in July 2016, and the mosquito species was identified according to the mosquito morphology. Then, 60 to 100 mosquitoes of each species served as a group and were ground. Baby hamster kidney-21 (BHK-21) cells and Aedes albopictus clone C6/36 cells were used for virus isolation, and positive isolates were identified using flavivirus primers. The positive isolates were amplified using reverse transcription polymerase chain reaction (RT-PCR) assay with 15 pairs of specific primers covering the full length of the genotype I Japanese encephalitis virus, and DNA sequence assembly was performed using the software SeqMan in the DNASTAR package. The obtained sequences were aligned with the complete sequences of 38 Japanese encephalitis virus downloaded from the GenBank with the software MegAlign, and the nucleotide and amino acid homology analyses of the obtained sequences were performed. The difference in amino acid sites was analyzed with the software GeneDoc, and phylogenetic trees were created based on the sequences of the coding region and E protein of the isolated Japanese encephalitis virus with the software Mega X. In addition, the secondary and tertiary structures of the E protein of the Japanese encephalitis virus were predicted using the online tool SOPMA and the software Swiss-Model. RESULTS: A total of 5 820 mosquitoes were collected and 3 843 Cx. tritaeniorhynchus (66.03%) were identified according to the mosquito morphology. A positive virus isolate, termed YNDC55-33, was isolated from Cx. tritaeniorhynchoides following batches of virus isolation from mosquito specimens, and cytopathic effect was observed following inoculation into BHK-21 and C6/36 cells. The YNDC55-33 virus isolate was successfully amplified with the flavivirus primes, and a long sequence containing 300 nucleotides was obtained. Following sequence alignment using the BLAST tool, the sequence of the YNDC55-33 virus isolate had high homology with that of the genotype I Japanese encephalitis virus. A long sequence with 10 845 nucleotides in length, which encoded 3 432 amino acids, was obtained by splicing the full sequence of the YNDC55-33 virus isolate. Phylogenetic analysis based on the whole-genome sequence and E gene sequence of the YNDC55-33 virus isolate showed that the new YNDC55-33 virus isolate was most closely related to the genotype I Guizhou isolate (GenBank accession number: HM366552), with nucleotide homology of 98.5% and amino acid homology of 99.4%, and the YNDC55-33 virus isolate shared 97.96% ± 0.33% nucleotide homology and 99.35% ± 0.08% amino acid homology with other genotype I Japanese encephalitis virus isolates, and < 90% nucleotide homology and < 98% amino acid homology with other genotypes of Japanese encephalitis virus. The YNDC55-33 virus isolate and the live attenuated virus vaccine candidate SA14-14-2 isolate differed at 16 amino acid sites on E gene, and 7 out of 8 key amino acid sites related to neurovirulence. The secondary and tertiary structures of the E protein of the YNDC55-33 virus isolate were predicted to be characterized by random coils. CONCLUSIONS: A genotype I Japanese encephalitis virus was isolated from Cx. tritaeniorhynchus in Dongchuan District, Kunming City. This virus isolate and the live attenuated virus vaccine candidate SA14-14-2 isolate does not differ at antigenic epitopes-related key amino acid sites, and the major protein structure of the virus isolate is random coils. This study adds new data for the epidemiological distribution of Japanese encephalitis virus in Yunnan Province, which may provide insights into the prevention and control of Japanese encephalitis in the province.

Identification of molecular subtypes for endometrial carcinoma using a 46-gene next-generation sequencing panel: a retrospective study on a consecutive cohort.

BACKGROUND: Traditional classification tools for endometrial carcinoma (EC), such as DNA sequencing, immunohistochemistry (IHC), or PCR, are cumbersome and time-consuming. Large next-generation sequencing (NGS) panels have simplified testing but are expensive. In this study, we propose a concise NGS panel as an effectively viable approach for classifying EC. MATERIALS AND METHODS: We retrospectively enrolled a consecutive EC cohort of hysterectomy with bilateral salpingo-oophorectomy from Fudan University Shanghai Cancer Center between 2020 and 2022. A 46-gene NGS panel was utilized to identify POLE exonuclease domain mutations, microsatellite instability-high (MSI-H), TP53 mutations, and other clinically relevant targets. RESULTS: Tumor tissue samples from 331 EC patients were evaluated, with 284 (85.8%) cases classified as endometrioid endometrial carcinoma. The median follow-up time was 32.6 months (n = 303), during which 23 patients experienced recurrence or disease progression. Using the concise NGS panel, patients were stratified into four molecular subgroups according to the World Health Organization classification criteria: POLE mut (n = 47; 14.2%), mismatch repair deficiency (dMMR) (n = 79; 23.9%), non-specific molecular profile (n = 148; 44.7%), and abnormal p53 expression (p53 abn) (n = 57; 17.2%). POLE mut displayed the most favorable prognosis, while p53 abn had the worst prognosis (P < 0.001). The concordance between NGS and IHC was 91.8% (269/293) for detecting MMR status and 65.3% (201/308) for detecting p53 status. Patients detected solely by NGS had significantly worse prognosis than those detected solely by IHC, indicating higher accuracy of the NGS panel. With the molecular subtyping information, adjuvant treatment plans for 19.6% of patients could potentially be altered, mainly concentrated in the POLE mut and p53 abn subtypes. This panel also aids targeted therapy and poly (ADP-ribose) polymerase (PARP) inhibitor-related gene mutation detection, as well as auxiliary genetic screening. CONCLUSION: Our study demonstrates that the concise NGS panel is an effective 'one-stop' strategy for precisely classifying EC with high clinical availability.

[The efficacy and safety of avapritinib in the treatment of molecular biologically positive core binding factor-acute myeloid leukemia with KIT mutation after allogeneic hematopoietic stem cell transplantation].

Objective: To investigate the efficacy and safety of avapritinib in the treatment of molecular biologically positive core binding factor-acute myeloid leukemia (CBF-AML) with KIT mutation after allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: We retrospectively analyzed the clinical data of six patients with molecular biologically positive CBF-AML with KIT mutation after allo-HSCT, who were treated with avapritinib at Henan Cancer Hospital from December 2021 to March 2023, and evaluated the efficacy and safety of avapritinib. Results: After 1 month of treatment with avapritinib, the transcription level of the fusion gene decreased in six patients, and the transcription level decreased by ≥1 log in five patients. In four patients who received avapritinib for ≥3 months, the fusion gene turned negative, and the median time to turn negative was 2.0 (range: 1.0-3.0) months. Up to the end of follow-up, four patients had no recurrence. The most common adverse reaction of avapritinib was myelosuppression, including neutropenia in two cases, thrombocytopenia in two cases, and anemia in one case. The non-hematological adverse reactions were nausea in two cases, edema in one case, and memory loss in one case, all of which were grades 1-2. Conclusion: Avapritinib was effective for molecular biologically positive CBF-AML patients with KIT mutation after allo-HSCT. The main adverse reaction was myelosuppression, which could generally be tolerated.

Effects of space allowance on patterns of activity in group-housed dairy calves.

With increasing use of social housing for dairy calves, there is a need to refine housing management practices that influence animal behavior and may affect welfare. Our aim was to assess the effect of pen space allowance on activity patterns and pen space use. Holstein heifer calves were group-housed (n = 6 pens; 5 calves/pen) at 14 d ± 2.8 d of age (mean ± SD). After a 7-d adaptation, each pen was exposed to 3 different space allowances (3.7, 4.6, and 5.6 m2/calf) in a random order, according to a replicated Latin square design with three 7-d periods (period 1, d 22-28; period 2, d 29-35; and period 3, d 36-42). Calves were provided milk replacer (12 L/d) ad libitum via an automated milk feeder and gradually weaned over 10 d, beginning at 48 ± 3 d of age. Using leg-based accelerometers (HOBO Pendant G data logger, Onset Computer Corp., Pocasset, MA), we obtained data describing standing time, standing bout frequency, and standing bout duration. Daily pen-level average standing time (6.5 h/d; SE = 0.27) did not differ between treatments. However, with greater space allowance, calves had more frequent standing bouts (22.6 vs. 20.3 bouts/d; 5.6 vs. 3.7 m2/calf; SE = 0.96) of shorter duration. To assess effects of space allowance on within-pen individual variability, we calculated the coefficient of variation for daily activity outcomes at the pen level and intra-class correlation coefficients for hourly standing time, by pen and day. The coefficient of variation for standing behavior outcomes decreased with increasing space allowance, and the intraclass correlation for hourly standing time increased, suggesting that increasing space allowance reduced individual variability and may promote more synchronous rest. Finally, we qualitatively assessed use of pen space using motion heat maps generated using computer vision from video recorded of each pen from 0800 to 1200 h on d 6 and 7 of each experimental period for each pen. These images suggest that calves preferentially used space near the perimeter of the pen, but space was used more uniformly when space allowance is restricted. Overall, these results suggest that lower space allowances may restrict patterns of activity at the pen level and reduce behavioral synchrony.

The super-resolution reconstruction in diffusion-weighted imaging of preoperative rectal MR using generative adversarial network (GAN): Image quality and T-stage assessment.

AIMS: To assess the feasibility of using a generative adversarial network (GAN) to improve diffusion-weighted imaging (DWI) resolution in rectal MR scans for rectal carcinoma (RC), and to evaluate both the image quality and the diagnostic utility of super-resolution DWI (SR-DWI) in T stage assessment. MATERIALS AND METHODS: In this retrospective investigation, a total of 291 patients diagnosed with RC during the period spanning May 2018 to December 2021 were included. The generated SR-DWI was evaluated against the original DWI using multi-scale structural similarity and peak signal-to-noise ratio. Two radiologists scored the SR-DWI and original DWI using a 4-point Likert scale in image quality. Moreover, both radiologists independently evaluated the T category staging based on T2WI and SR-DWI. Interobserver agreement was assessed using Cohen's kappa. RESULTS: The PSRN and MS-SSIM values of SR-DWI (4 ×) were significantly higher compared to those of SR-DWI (16 ×). Regarding the details of anatomic structures and overall image quality parameters, both radiologists exhibited a preference for SR DWI with 16 × enlargement over SR DWI with 4 × enlargement, yielding significantly superior ratings (both p < 0.001). The T-staging accuracy rates of SR-DWI (16 ×) performed by radiologist 1 and radiologist 2 were significantly superior to those achieved with T2WI (0.621 vs. 0.768, p = 0.027; 0.653 vs 0.810, p = 0.014). CONCLUSIONS: Our study demonstrates that the adapted super-resolution approach can significantly improve the overall image quality and details of anatomic structure of DWI in rectal MR. And SR-DWI offer better diagnostic accuracy in RC T staging when compared with T2WI.

[Epidemiological characteristics and spatiotemporal clustering analysis on foodborne infection of Vibrio parahaemolyticus in Ningbo, 2014-2022].

Objective: To explore the epidemiological characteristics and spatiotemporal clustering of foodborne infection of Vibrio (V.) parahaemolyticus in Ningbo, Zhejiang Province, from 2014 to 2022, and provide reference and evidence for the prevention and control of related diseases. Methods: The incidence data on of foodborne infection of V. parahaemolyticus in Ningbo from 2014 to 2022 were collected from Ningbo Foodborne Disease Surveillance System, and the case counts and the positive rates in different districts (counties, cities) were calculated. Spatial autocorrelation analysis and spatiotemporal scanning analysis were conducted to analyze the spatiotemporal clustering of the diseases. Results: A total of 1 822 cases of foodborne infection of V. parahaemolyticus were reported in Ningbo from 2014 to 2022, with an overall positive rate of 3.78%. Spatial autocorrelation analysis showed that the positive rate of foodborne infection of V. parahaemolyticus in Ningbo was unevenly distributed from 2014 to 2022, Ninghai was a high-high clustering area, while Zhenhai was a high-low clustering area, and Jiangbei was a low-low clustering area. The annual incidence was high during July-September. Spatiotemporal scanning analysis found one class Ⅰ spatiotemporal clustering area and three class Ⅱ spatiotemporal clustering areas, with the class Ⅰ spatiotemporal clustering area being observed in Jiangbei and Zhenhai from 2019 to 2022. Conclusions: Spatiotemporal clustering of foodborne infection of V. parahaemolyticus existed in Ningbo from 2014 to 2022, with an annual high incidence period from July to September. The key areas for the prevention and control of foodborne infection of V. parahaemolyticus are coastal districts (counties, cities) in Ningbo.

[Exploratory study of starting age and interval of gastroscopy for different gastric mucosal lesions].

Objective: To understand the current status of gastroscopy in diagnosing gastric lesions in general population, and to recommend the optimal age for the first gastroscopy and intervals for repeated gastroscopy. Methods: The gastroscopy records of residents aged 18-80 years in Yinzhou District of Ningbo, Zhejiang Province, between April 2010 and December 2021 were analyzed retrospectively. The detections of gastric lesions across different years, age and genders were described. Goodness of fit tests were applied to compare the differences in detection rates of different lesions in first-time endoscopy in different age groups and different populations. Generalized additive models were used to fit the trend of age specific gastric lesion detection rate explore the optimal age for gastroscopy. The appropriate gastroscopy intervals were determined according to the progress of the gastric lesions detected in repeated gastroscopy. Results: A total of 237 751 participants with 344 398 gastroscopy records were included in analyses. A total of 5 597 cases of chronic atrophic gastritis (CAG), 9 796 cases of intestinal metaplasia (IM), 165 cases of low-grade intraepithelial neoplasia (LGIN), 52 cases of high-grade intraepithelial neoplasia (HGIN) and 435 cases of gastric cancer were detected by the first gastroscopy. The overall detection rate of gastric lesions increased significantly in age group 45-70 years, and remained stable after 70 years old, with LGIN and HGIN showing notable increases at 50 and 55 years old, respectively. Repeated gastroscopy detected CAG, IM, LGIN, and HGIN at a higher rate compared with the first gastroscopy. Normal/superficial gastritis progressed in 3-5 years, whereas CAG or more severe lesions progressed in 1-6 years. Conclusion: Gastroscopy is recommended for general population aged 45 years and above. Furthermore, gastroscopy can be performed every 3-5 years for individuals with normal endoscopy results and once a year for patients with CAG or more severe gastric lesions.

[Expression and diagnostic value of lymphocyte subsets and activation status in non-Hodgkin's lymphoma-associated hemophagocytic lymphohistiocytosis].

Objective: To determine the expression and diagnostic value of peripheral blood lymphocytes and functional activation status in non-Hodgkin lymphoma with hemophagocytic lymphohistiocytosis (NHL-HLH) . Methods: We retrospectively analyzed clinical data from 30 newly diagnosed NHL-HLH patients admitted to Jiangsu Province Hospital from September 2022 to September 2023. We assessed peripheral blood lymphocytes and activation status by flow cytometry. Forty newly diagnosed patients with NHL who received treatment at our hospital during the same period and had lymphocyte and functional activation indexes were selected as the control group. The differences in relative and absolute lymphocyte counts and functional activation indexes between the two groups were compared. The optimal cutoff values for continuous variables were calculated from the receiver operating characteristic curve and logistic regression analysis was used to evaluate the risk factors in NHL patients with HLH. Results: A total of 30 NHL-HLH patients were evaluated, including 12 T-cell lymphoma and 18 B-cell lymphoma patients. Forty individuals were in the control group, which included 19 T-cell lymphoma and 21 B-cell lymphoma patients. The absolute counts of CD3(+) T, CD4(+) T, CD8(+) T, and NK cells, along with the relative count of NK cells, were significantly lower in the HLH group compared with that in the control group (all P values<0.01) . The expression of CD38 and HLA-DR on CD8(+) T-cell activated subgroups was significantly higher in the NHL-HLH group compared with that in the control group (CD8(+)CD38(+)/CD8(+) T expression median: 57.4% vs 21.5%, P<0.001; CD8(+)CD38(+)/CD8(+) T expression median: 49.7% vs 33.5%, P=0.028, respectively) . In addition, CD28 expression on CD4(+) and CD8(+) T cells was significantly higher in NHL-HLH patients (P<0.01) . ROC curve and multivariate logistic regression analyses revealed that absolute NK cell count ≤72.0 cells/µl, CD4(+)CD28(+)/CD4(+) T >94.2%, and CD8(+)CD28(+)/CD8(+) T >38.4% were risk factors for predicting the occurrence of NHL-HLH patients. The sensitivity and specificity of the regression model were 86.7% and 86.1%, respectively, with an area under the curve of 0.94 (P<0.001) . Conclusions: In NHL patients with HLH, there was a significant reduction in the absolute number of peripheral blood lymphocyte subpopulations, whereas T-cell function was notably activated. Specifically, absolute counts of NK cells ≤72.0 cells/µl, CD4(+)CD28(+)/CD4(+) T >94.2%, and CD8(+)CD28(+)/CD8(+) T >38.4% were identified as risk factors for predicting the development of NHL-HLH patients. This will assist in early clinical diagnosis and treatment.

First Application of Whole Genome Sequencing in Myelinated Retinal Nerve Fibers (MRNF).

Genetic features are currently unknown in myelinated retinal nerve fibers (MRNF). For a 20-year-old asymptomatic female with unilateral MRNF, we performed whole genome sequencing (WGS) by standard workflow protocol to produce contiguous long-read sequences with Illumina DNA PCR-Free Prep. After tagmentation, libraries were sequenced on separate runs via NovaSeq 6000 platform at 2 x 150bp read length. Gene variants included rs2248799, rs2672589, rs7555070, rs247616_T and rs2043085_C all associated with an increased macular degeneration risk, and seven novel variants of uncertain significance. For optic disc enlargement, variants rs9988687_A, rs11079419_T, rs6787363 and rs10862708_A suggested an increased risk for this condition. In contrast, modeling revealed retinal detachment risk was reduced by variants identified at rs9651980_T, rs4373767_T, and rs7940691_T which were among five other previously unreported variants. WGS data placed proband at the 66th and 64th percentiles for disc anomaly and retinal detachment risk, respectively. Additionally, risk determined from 16 loci associated with age-related macular degeneration found the patient to be at the 18th percentile for this diagnosis (i.e., below average genetic predisposition). Fundoscopic findings showed mean RNFL thickness was lower with MRNF (77 OS vs. 96?m OD) and RNFL symmetry was impaired (43 %) but stable between 2020 and 2023. Rim area and cup volume were also substantially different (2.33 OS vs. 1.34mm2 OD, and 0.001 OS vs. 0.151mm3 OD, respectively). As the first known evaluation of MRNF via WGS, these data reveal a mixed picture with variants associated with different risks for potentially related ocular pathologies. In addition, we identify multiple new variants of unknown significance. Factors affecting gene expression in MRNF require further study. Key words: Whole genome sequencing, Retina, Myelination, Anatomy, Gene variants.

[Prenatal screening and prenatal diagnosis clinical laboratory diagnostic pathway].

Congenital defects and genetic diseases in the fetus are the focus of prenatal screening and prenatal diagnosis. Obstetrics and gynecology, pediatrics, medical imaging (ultrasound and magnetic resonance imaging), clinical laboratory, pathology, and other disciplines are mostly involved in this multidisciplinary work on maternal and infant health care, which aims to prevent birth defects in strict accordance with laws, regulations, and pertinent industry standards, such as the Notice of the National Health Commission on Issuing the Basic Standards for Prenatal Screening Technical Medical Institutions and the Basic Standards for Prenatal Diagnosis Technical Medical Institutions (Guowei Maternal and Child Letter [2019] No. 297). To further support the implementation of prenatal screening and diagnosis work and streamline workflow, this study has compiled the timing, inspection, and testing procedures of various projects in each link from the standpoint of the disease clinical laboratory diagnostic pathway. This approach improves communication amongst various disciplines in prenatal screening and diagnosis work and offers clinical service quality, and it also helps improve the standard of the birth population and prevent and controll severe birth defects.

[Conbercept reverses TGF-ß2-induced epithelial-mesenchymal transition in human lens epithelial cells by regulating the TGF-ß/Smad signaling pathway].

OBJECTIVE: To investigate the mechanism by which conbercept reverses transforming growth factor-ß2 (TGF-ß2)-induced epithelial-mesenchymal transition (EMT) in human lens epithelial cells (HLECs). METHODS: Cultured HLEC SRA01/04 cells were treated with TGF-ß2, conbercept, or both, and the changes in cell proliferation, apoptosis, and migration were observed using MTT assay, flow cytometry, scratch assay, and Transwell assay. Western blotting and qRT-PCR were used to detect the changes in the expression of EMT-related epithelial cell markers (E-Cadherin, α-SMA, and Snail), extracellular matrix components, and genes related to the TGF-ß/Smad signaling pathway. RESULTS: Conbercept significantly reduced TGF-ß2-induced EMT of SRA01/04 cells, decreased the expression levels of mesenchymal and extracellular matrix markers α-SMA, Snail, collagen I, collagen IV, and FN1, and upregulated the protein and mRNA expressions of E-cadherin (P <0.05). Transwell assay showed significantly lower cell migration ability in TGF-ß2+conbercept group than in TGF-ß2 group (P <0.05). Conbercept also inhibited the increase in Smad2/3 phosphorylation levels in HLEC-SRA01/04 cells with TGF-ß2-induced EMT (P <0.01). CONCLUSION: Conbercept inhibits TGF-ß2 induced EMT by downregulating the expression of pSmad2/3 in TGF-ß/Smad signaling pathway, indicating a potential therapeutic strategy against visual loss induced by posterior capsule opacification.

[The progress in classification and prognosis evaluation of BCR::ABL1 positive acute lymphoblastic leukemia].

The application of tyrosine kinase inhibitors and targeted immunotherapy has revolutionized the therapeutic strategies and clinical outcome for BCR::ABL1-positive B-cell acute lymphoblastic leukemia (BCR::ABL1(+) B-ALL). The classification was updated successively by the World Health Organization and the International Consensus Classification in 2022. The risk stratification of this entity, for the first time, was modified by the National Comprehensive Cancer Network in 2023, both minimal residual disease assessment and IKZF1(plus) genotyping recognized as critical prognostic factors. These important updates would have significant implications for clinical management. Therefore, this review focused on the latest advances in the classification and prognostic evaluation of BCR::ABL1(+) B-ALL.