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1.
J Marriage Fam ; 86(2): 473-493, 2024 Apr.
Article En | MEDLINE | ID: mdl-38828208

Objective: This study examines the long-observed marital advantage in happiness during the COVID-19 pandemic. Background: The COVID-19 pandemic may have altered the marital advantage in happiness due to changes in social integration processes. However, this has not been explored in previous studies. Method: Data were from the COVID-19 substudy of the National Social Life, Health, and Aging Project (N=2622). A series of regressions were estimated to understand marital status differences in pandemic happiness and changes in relationships with non-resident family and friends. Karlson-Holm-Breen mediation analysis was conducted to examine whether relationships with non-resident family and friends explained the marital association with pandemic happiness. Results: From pre-pandemic to pandemic, married respondents experienced a greater increase in unhappiness than unmarried counterparts, narrowing happiness gaps. However, unmarried individuals, including cohabiting, divorced, widowed, and never married individuals, continued to report higher levels of unhappiness during the pandemic than married peers. These differences primarily stemmed from pre-pandemic happiness. After controlling for pre-pandemic happiness, cohabiting, widowed, and never married older adults did not significantly differ from their married counterparts in reporting unhappiness during the pandemic. In contrast, divorced individuals remained consistently more unhappy than married individuals during the pandemic, mainly due to deteriorated relationship quality with non-resident family. Conclusion: During a global crisis, it is crucial for policymakers, healthcare providers, and researchers to develop innovative interventions to promote happiness and healthy aging among all older adults, paying special attention to those who are divorced.

2.
Infect Med (Beijing) ; 3(2): 100109, 2024 Jun.
Article En | MEDLINE | ID: mdl-38846345

Fusobacterium vincentii brain abscesses are relatively rare. Here, we report our treatment of an anaerobic brain abscess caused by a mixed infection of Parvimonas micra, Streptococcus constellatus, Fusobacterium vincentii, and Bacteroides heparinolyticus diagnosed by metagenomic next-generation sequencing (mNGS). This is the first reported case of Fusobacterium vincentii in a brain abscess. This case highlights the possibility that oral anaerobic microbes can cause a brain abscess and demonstrates that mNGS has the potential to be deployed to provide rapid infection diagnosis and rationalize antimicrobial therapy for brain abscesses.

3.
Appl Clin Genet ; 17: 71-84, 2024.
Article En | MEDLINE | ID: mdl-38835974

Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders involving peripheral nervous system. Charcot-Marie-Tooth disease 4B1 (CMT4B1) is a rare subtype of CMT. CMT4B1 is an axonal demyelinating polyneuropathy with an autosomal recessive mode of inheritance. Patients with CMT4B1 usually manifested with dysfunction of the motor and sensory systems which leads to gradual and progressive muscular weakness and atrophy, starting from the peroneal muscles and finally affecting the distal muscles. Germline mutations in MTMR2 gene causes CMT4B1. Material and Methods: In this study, we investigated a 4-year-old Chinese boy with gradual and progressive weakness and atrophy of both proximal and distal muscles. The proband's parents did not show any abnormalities. Whole-exome sequencing and Sanger sequencing were performed. Results: Whole-exome sequencing identified a novel homozygous nonsense mutation (c.118A>T; p.Lys40*) in exon 2 of MTMR2 gene in the proband. This novel mutation leads to the formation of a truncated MTMR2 protein of 39 amino acids instead of the wild- type MTMR2 protein of 643 amino acids. This mutation is predicted to cause the complete loss of the PH-GRAM domain, phosphatase domain, coiled-coil domain, and PDZ-binding motif of the MTMR2 protein. Sanger sequencing revealed that the proband's parents carried the mutation in a heterozygous state. This mutation was absent in 100 healthy control individuals. Conclusion: This study reports the first mutation in MTMR2 associated with CMT4B1 in a Chinese population. Our study also showed the importance of whole-exome sequencing in identifying candidate genes and disease-causing variants in patients with CMT4B1.

4.
Front Cardiovasc Med ; 11: 1364289, 2024.
Article En | MEDLINE | ID: mdl-38836060

Background: Neonatal (enteroviral) myocarditis (NM/NEM) is rare but unpredictable and devastating, with high mortality and morbidity. We report a case of neonatal coxsackievirus B (CVB) fulminant myocarditis successfully treated with veno-arterial extracorporeal membrane oxygenation (V-A ECMO). Case presentation: A previously healthy 7-day-old boy presented with fever for 4 days. Progressive cardiac dysfunction (weak heart sounds, hepatomegaly, pulmonary edema, ascites, and oliguria), decreased left ventricular ejection fraction (LVEF) and fractional shortening (FS), transient ventricular fibrillation, dramatically elevated creatine kinase-MB (405.8 U/L), cardiac troponin I (25.85 ng/ml), and N-terminal pro-brain natriuretic peptide (NT-proBNP > 35,000 ng/L), and positive blood CVB ribonucleic acid indicated neonatal CVB fulminating myocarditis. It was refractory to mechanical ventilation, fluid resuscitation, inotropes, corticosteroids, intravenous immunoglobulin, and diuretics during the first 4 days of hospitalization (DOH 1-4). The deterioration was suppressed by V-A ECMO in the next 5 days (DOH 5-9), despite the occurrence of bilateral grade III intraventricular hemorrhage on DOH 7. Within the first 4 days after ECMO decannulation (DOH 10-13), he continued to improve with withdrawal of mechanical ventilation, LVEF > 60%, and FS > 30%. In the subsequent 4 days (DOH 14-17), his LVEF and FS decreased to 52% and 25%, and further dropped to 37%-38% and 17% over the next 2 days (DOH 18-19), respectively. There was no other deterioration except for cardiomegaly and paroxysmal tachypnea. Through strengthening fluid restriction and diuresis, and improving cardiopulmonary function, he restabilized. Finally, notwithstanding NT-proBNP elevation (>35,000 ng/L), cardiomegaly, and low LVEF (40%-44%) and FS (18%-21%) levels, he was discharged on DOH 26 with oral medications discontinued within 3 weeks postdischarge. In nearly three years of follow-up, he was uneventful, with interventricular septum hyperechogenic foci and mild mitral/tricuspid regurgitation. Conclusions: Dynamic cardiac function monitoring via real-time echocardiography is useful for the diagnosis and treatment of NM/NEM. As a lifesaving therapy, ECMO may improve the survival rate of patients with NM/NEM. However, the "honeymoon period" after ECMO may cause the illusion of recovery. Regardless of whether the survivors of NM/NEM have undergone ECMO, close long-term follow-up is paramount to the prompt identification and intervention of abnormalities.

5.
Intractable Rare Dis Res ; 13(2): 104-109, 2024 May 31.
Article En | MEDLINE | ID: mdl-38836175

Gene therapy for monogenic auditory neuropathy (AN) has successfully improved hearing function in target gene-deficient mice. Accurate genetic diagnosis can not only clarify the etiology but also accurately locate the lesion site, providing a basis for gene therapy and guiding patient intervention and management strategies. In this study, we collected data from a family with a pair of sisters with prelingual deafness. According to their auditory tests, subject Ⅱ-1 was diagnosed with profound sensorineural hearing loss (SNHL), Ⅱ-2 was diagnosed with AN, Ⅰ-1 was diagnosed with high-frequency SNHL, and Ⅰ-2 had normal hearing. Using whole-exome sequencing (WES), one nonsense mutation, c.4030C>T (p.R1344X), and one missense mutation, c.5000C>A (p.A1667D), in the OTOF (NM_001287489.1) gene were identified in the two siblings. Their parents were heterozygous carriers of c.5000C>A (father) and c.4030C>T (mother). We hypothesized that c.5000C>A is a novel pathogenic mutation. Thus, subject Ⅱ-1 should also be diagnosed with AN caused by OTOF mutations. These findings not only expand the OTOF gene mutation spectrum for AN but also indicate that WES is an effective approach for accurately diagnosing AN.

6.
Front Endocrinol (Lausanne) ; 15: 1396347, 2024.
Article En | MEDLINE | ID: mdl-38836232

Background: Associations of liver function with the risk of gestational diabetes mellitus (GDM) remain unclear. This study aimed to examine the relationship and the potential causality between maternal liver biomarkers and the risk of subsequent GDM, as well as to evaluate the interaction between liver biomarkers and lipids on GDM risk. Methods: In an ongoing Zhoushan Pregnant Women Cohort, pregnant women who finished the first prenatal follow-up record, underwent liver function tests in early pregnancy, and completed the GDM screening were included in this study. Logistic regression models were used to investigate the association, and the inverse-variance weighted method supplemented with other methods of two-sample Mendelian randomization (MR) analysis was applied to deduce the causality. Results: Among 9,148 pregnant women, 1,668 (18.2%) developed GDM. In general, the highest quartile of liver function index (LFI), including ALT, AST, GGT, ALP, and hepatic steatosis index, was significantly associated with an increased risk of GDM (OR ranging from 1.29 to 3.15), especially an elevated risk of abnormal postprandial blood glucose level. Moreover, the causal link between ALT and GDM was confirmed by the MR analysis (OR=1.28, 95%CI:1.05-1.54). A significant interaction between AST/ALT and TG on GDM risk was observed (P interaction = 0.026). Conclusion: Elevated levels of LFI in early pregnancy were remarkably associated with an increased risk of GDM in our prospective cohort. Besides, a positive causal link between ALT and GDM was suggested.


Biomarkers , Diabetes, Gestational , Liver , Mendelian Randomization Analysis , Humans , Female , Pregnancy , Diabetes, Gestational/epidemiology , Diabetes, Gestational/blood , Diabetes, Gestational/genetics , Adult , Prospective Studies , Biomarkers/blood , Liver/metabolism , Risk Factors , Liver Function Tests , Cohort Studies , Alanine Transaminase/blood
7.
Future Sci OA ; 10(1): FSO928, 2024.
Article En | MEDLINE | ID: mdl-38827810

Aim: Current head and neck squamous cell carcinoma (HNSCC) diagnostic tools are limited, so this study aimed to identify diagnostic microRNA (miRNA) biomarkers from plasma. Materials & methods: A total of 76 HNSCC and 76 noncancerous control (NC) plasma samples underwent microarray analysis and quantitative reverse transcription PCR to screen for diagnostic plasma miRNAs. The diagnostic potential of the miRNAs was evaluated by the receiver operating characteristic curve. Results: miR-95-3p and miR-579-5p expression was shown to be significantly upregulated, and that of miR-1298-3p to be downregulated in HNSCC patients compared with controls. The final diagnostic panel included miR-95-3p, miR-579-5p and miR-1298-3p with an area under the curve of 0.83. Conclusion: This three-miRNA panel has potential for the diagnosis of HNSCC.


Early detection of head and neck cancer is crucial. In this study, we established a diagnostic model based on blood samples. This is a convenient diagnostic and screening tool that can help people early detect head and neck cancer.

8.
J Med Phys ; 49(1): 110-119, 2024.
Article En | MEDLINE | ID: mdl-38828073

Purpose: We have developed a bone-dedicated collimator with higher sensitivity but slightly degraded resolution on single-photon emission computed tomography (SPECT) for planar bone scintigraphy, compared with conventional low-energy high-resolution collimator. In this work, we investigated the feasibility of using the blind deconvolution algorithm to improve the resolution of planar images on bone scintigraphy. Materials and Methods: Monte Carlo simulation was performed with the NCAT phantom for modeling bone scintigraphy on the clinical dual-head SPECT scanner (Imagine NET 632, Beijing Novel Medical Equipment Ltd.) equipped with the bone-dedicated collimator. Maximum likelihood estimation method was used for the blind deconvolution algorithm. The initial estimation of point spread function (PSF) and iteration number for the method were determined by comparing the deblurred images obtained from different input parameters. We simulated different tumors in five different locations and with five different diameters to evaluate the robustness of the initial inputs. Furthermore, we performed chest phantom studies on the clinical SPECT scanner. The quantified increased contrast ratio (CR) between the tumor and the background was evaluated. Results: The 2 mm PSF kernel and 10 iterations provided a practical and robust deblurred image on our system. Those two inputs can generate robust deblurred images in terms of the tumor location and size with an average increased CR of 21.6%. The phantom studies also demonstrated the ability of blind deconvolution, using those two inputs, with increased CRs of 17%, 17%, 22%, 20%, and 13% for lesions with diameters of 1 cm, 2 cm, 3 cm, 4 cm, and 5 cm, respectively. Conclusions: It is feasible to use the blind deconvolution algorithm to deblur the planar images for SPECT bone scintigraphy. The appropriate values of the PSF kernel and the iteration number for the blind deconvolution can be determined using simulation studies.

9.
Front Neurorobot ; 18: 1398703, 2024.
Article En | MEDLINE | ID: mdl-38831877

Introduction: During the last few years, a heightened interest has been shown in classifying scene images depicting diverse robotic environments. The surge in interest can be attributed to significant improvements in visual sensor technology, which has enhanced image analysis capabilities. Methods: Advances in vision technology have a major impact on the areas of multiple object detection and scene understanding. These tasks are an integral part of a variety of technologies, including integrating scenes in augmented reality, facilitating robot navigation, enabling autonomous driving systems, and improving applications in tourist information. Despite significant strides in visual interpretation, numerous challenges persist, encompassing semantic understanding, occlusion, orientation, insufficient availability of labeled data, uneven illumination including shadows and lighting, variation in direction, and object size and changing background. To overcome these challenges, we proposed an innovative scene recognition framework, which proved to be highly effective and yielded remarkable results. First, we perform preprocessing using kernel convolution on scene data. Second, we perform semantic segmentation using UNet segmentation. Then, we extract features from these segmented data using discrete wavelet transform (DWT), Sobel and Laplacian, and textual (local binary pattern analysis). To recognize the object, we have used deep belief network and then find the object-to-object relation. Finally, AlexNet is used to assign the relevant labels to the scene based on recognized objects in the image. Results: The performance of the proposed system was validated using three standard datasets: PASCALVOC-12, Cityscapes, and Caltech 101. The accuracy attained on the PASCALVOC-12 dataset exceeds 96% while achieving a rate of 95.90% on the Cityscapes dataset. Discussion: Furthermore, the model demonstrates a commendable accuracy of 92.2% on the Caltech 101 dataset. This model showcases noteworthy advancements beyond the capabilities of current models.

10.
Cancer Med ; 13(11): e7364, 2024 Jun.
Article En | MEDLINE | ID: mdl-38847084

PURPOSE: Lung cancer (LC) and breast cancer (BC) are the most common causes of brain metastases (BMs). Time from primary diagnosis to BM (TPDBM) refers to the time interval between initial LC or BC diagnosis and development of BM. This research aims to identify clinical, molecular, and therapeutic risk factors associated with shorter TPDBM. METHODS: We retrospectively reviewed all diagnosed LC and BC patients with BM at Harbin Medical University Cancer Hospital from 2016 to 2020. A total of 570 patients with LC brain metastasis (LCBM) and 173 patients with breast cancer brain metastasis (BCBM) patients who met the inclusion criteria were enrolled for further analysis. BM free survival time curves were generated using Kaplan-Meier analyses. Univariate and multivariate Cox regression analyses were applied to identify risk factors associated with earlier development of BM in LC and BC, respectively. RESULTS: The median TPDBM was 5.3 months in LC and 44.4 months in BC. In multivariate analysis, clinical stage IV and M1 stage were independent risk factors for early development of LCBM. LC patients who received chemotherapy, targeted therapy, pulmonary radiotherapy, and pulmonary surgery had longer TPDBM. For BC patients, age ≥ 50 years, Ki67 ≥ 0.3, HER2 positive or triple-negative breast cancer subtype, advanced N stage, and no mastectomy were correlated with shorter TPDBM. CONCLUSIONS: This single-institutional study helps identify patients who have a high risk of developing BM early. For these patients, early detection and intervention could have clinical benefits.


Brain Neoplasms , Breast Neoplasms , Lung Neoplasms , Humans , Female , Lung Neoplasms/therapy , Lung Neoplasms/pathology , Lung Neoplasms/diagnosis , Brain Neoplasms/secondary , Brain Neoplasms/therapy , Brain Neoplasms/diagnosis , Middle Aged , Breast Neoplasms/pathology , Breast Neoplasms/therapy , Retrospective Studies , Risk Factors , Aged , Male , Time Factors , Adult , Neoplasm Staging
11.
Nat Commun ; 15(1): 3871, 2024 May 08.
Article En | MEDLINE | ID: mdl-38719862

Temperature is one of the seven fundamental physical quantities. The ability to measure temperatures approaching absolute zero has driven numerous advances in low-temperature physics and quantum physics. Currently, millikelvin temperatures and below are measured through the characterization of a certain thermal state of the system as there is no traditional thermometer capable of measuring temperatures at such low levels. In this study, we develop a kind of diamond with sp2-sp3 composite phase to tackle this problem. The synthesized composite phase diamond (CPD) exhibits a negative temperature coefficient, providing an excellent fit across a broad temperature range, and reaching a temperature measurement limit of 1 mK. Additionally, the CPD demonstrates low magnetic field sensitivity and excellent thermal stability, and can be fabricated into probes down to 1 micron in diameter, making it a promising candidate for the manufacture of next-generation cryogenic temperature sensors. This development is significant for the low-temperature physics researches, and can help facilitate the transition of quantum computing, quantum simulation, and other related technologies from research to practical applications.

12.
J Am Chem Soc ; 2024 May 10.
Article En | MEDLINE | ID: mdl-38728652

Porous organic polymers (POPs) with inherent porosity, tunable pore environment, and semiconductive property are ideally suitable for application in various advanced semiconductor-related devices. However, owing to the lack of processability, POPs are usually prepared in powder forms, which limits their application in advanced devices. Herein, we demonstrate an example of information storage application of POPs with film form prepared by an electrochemical method. The growth process of the electropolymerized films in accordance with the Volmer-Weber model was proposed by observation of atomic force microscopy. Given the mechanism of the electron transfer system, we verified and mainly emphasized the importance of porosity and interfacial properties of porous polymer films for memristor. As expected, the as-fabricated memristors exhibit good performance on low turn-on voltage (0.65 ± 0.10 V), reliable data storage, and high on/off current ratio (104). This work offers inspiration for applying POPs in the form of electropolymerized films in various advanced semiconductor-related devices.

13.
Phys Rev Lett ; 132(17): 177001, 2024 Apr 26.
Article En | MEDLINE | ID: mdl-38728709

Asymmetric transmission in a passive vortex system is highly desirable, as it enables the development of compact vortex-based devices. However, breaking the mirror symmetry of transmission via a single metasurface poses challenges due to the inherent symmetric transmission properties in reciprocity. Here, we theoretically propose and experimentally demonstrate a novel transmission-reflection phase coupling mechanism to achieve the broken mirror symmetry of sound vortex transmission. This mechanism establishes a special coupling link between transmission and reflection waves, superimposing asymmetric reflection phases on the transmission phases. By utilizing a single passive phase gradient metasurface with asymmetric reflection phase twists, distinct transmission phase twists for mirror-symmetric incident vortices can be achieved within a cylindrical waveguide. This is typically difficult to imple-ment in a reciprocal system. Numerical and experimental results both demonstrate the broken mirror symmetry of vortex transmission and reflection. Our findings offer a new strategy for controlling vortex wave propagation, which may inspire new directional applications and extend to the field of photonics.

16.
BMC Genomics ; 25(1): 450, 2024 May 07.
Article En | MEDLINE | ID: mdl-38714918

BACKGROUND: Circular RNAs (circRNAs) are a novel kind of non-coding RNAs proved to play crucial roles in the development of multiple diabetic complications. However, their expression and function in diabetes mellitus (DM)-impaired salivary glands are unknown. RESULTS: By using microarray technology, 663 upregulated and 999 downregulated circRNAs companied with 813 upregulated and 525 downregulated mRNAs were identified in the parotid glands (PGs) of type2 DM mice under a 2-fold change and P < 0.05 cutoff criteria. Gene ontology (GO) and kyoto encyclopedia of genes and genomes (KEGG) analysis of upregulated mRNAs showed enrichments in immune system process and peroxisome proliferator-activated receptor (PPAR) signaling pathway. Infiltration of inflammatory cells and increased inflammatory cytokines were observed in diabetic PGs. Seven differently expressed circRNAs validated by qRT-PCR were selected for coding-non-coding gene co-expression (CNC) and competing endogenous RNA (ceRNA) networks analysis. PPAR signaling pathway was primarily enriched through analysis of circRNA-mRNA networks. Moreover, the circRNA-miRNA-mRNA networks highlighted an enrichment in the regulation of actin cytoskeleton. CONCLUSION: The inflammatory response is elevated in diabetic PGs. The selected seven distinct circRNAs may attribute to the injury of diabetic PG by modulating inflammatory response through PPAR signaling pathway and actin cytoskeleton in diabetic PGs.


Diabetes Mellitus, Type 2 , Gene Expression Profiling , Gene Regulatory Networks , Parotid Gland , RNA, Circular , Animals , RNA, Circular/genetics , Mice , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/metabolism , Parotid Gland/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism , Peroxisome Proliferator-Activated Receptors/metabolism , Peroxisome Proliferator-Activated Receptors/genetics , Transcriptome , Gene Ontology , Male , Signal Transduction , Diabetes Mellitus, Experimental/genetics , Diabetes Mellitus, Experimental/metabolism
17.
Sci Adv ; 10(19): eade9520, 2024 May 10.
Article En | MEDLINE | ID: mdl-38718112

Fast collective motions are widely present in biomolecules, but their functional relevance remains unclear. Herein, we reveal that fast collective motions of backbone are critical to the water transfer of aquaporin Z (AqpZ) by using solid-state nuclear magnetic resonance (ssNMR) spectroscopy and molecular dynamics (MD) simulations. A total of 212 residue site-specific dipolar order parameters and 158 15N spin relaxation rates of the backbone are measured by combining the 13C- and 1H-detected multidimensional ssNMR spectra. Analysis of these experimental data by theoretic models suggests that the small-amplitude (~10°) collective motions of the transmembrane α helices on the nanosecond-to-microsecond timescales are dominant for the dynamics of AqpZ. The MD simulations demonstrate that these collective motions are critical to the water transfer efficiency of AqpZ by facilitating the opening of the channel and accelerating the water-residue hydrogen bonds renewing in the selectivity filter region.


Aquaporins , Molecular Dynamics Simulation , Water , Water/chemistry , Aquaporins/chemistry , Aquaporins/metabolism , Protein Conformation, alpha-Helical , Hydrogen Bonding , Magnetic Resonance Spectroscopy , Nuclear Magnetic Resonance, Biomolecular , Escherichia coli Proteins
18.
Heliyon ; 10(9): e30260, 2024 May 15.
Article En | MEDLINE | ID: mdl-38720708

Background: Gallbladder carcinoma (GBC) is a formidably aggressive malignancy. Circular RNAs (circRNAs) play crucial regulatory roles in cancer. NGFR is a novel circRNA implicated in various types of cancers. The primary goal of this study was to elucidate the role of NGFR in GBC. Methods: NGFR variants exhibiting discernible discrepancies were identified using RNA sequencing and validated using real-time PCR. Cell proliferation was assessed using 5-ethynyl-2'-deoxyuridine and Cell Counting Kit-8 assays. The ferroptotic phenotype was characterized by assessing the reactive oxygen species and Fe2+ levels. Western blotting was used to analyze ferroptosis-associated proteins. Superoxide dismutase, malondialdehyde, and glutathione levels were measured using commercially available reagent kits. The severity of mitochondrial damage was evaluated by assessing JC-1, MitoSOX, and ATP activities. Results: NGFR was upregulated, and its suppression inhibited cell proliferation and increased Fe2+ levels in GBC cells. Furthermore, NGFR downregulation disrupted mitochondrial function. Conclusion: Circular RNA NGFR can impede the advancement of GBC by modulating the ferroptotic phenotype, thereby potentially offering a novel avenue for the clinical diagnosis and treatment strategies of GBC.

19.
Article En | MEDLINE | ID: mdl-38700591

PURPOSE: To identify the types of viral infection in aqueous humor (AqH) among patients diagnosed as Fuchs uveitis syndrome (FUS) or Posner-Schlossman syndrome (PSS) and investigate their relevance to clinical manifestations and visual outcome. METHODS: A total of 375 patients and 171 patients were diagnosed as FUS or PSS in our department. AqH and serum samples from 68 FUS patients and 16 PSS patients were obtained during eye surgery. The viral etiologies, clinical features, auxiliary tests and visual prognosis of patients with FUS or PSS who underwent AqH analysis were analysed and compared. RESULTS: Among 68 FUS patients, rubella virus (RV), cytomegalovirus (CMV), herpes simplex virus (HSV) and varicella-zoster virus were identified in 17, 11, 1 and 1 patients, respectively. Seven patients with CMV and 1 with HSV were identified in 16 PSS patients. In both FUS and PSS groups, virus-associated eyes had higher proportion of secondary glaucoma and worse visual prognosis as compared with non-virus-associated eyes (all P < 0.05). In FUS group, specifically, CMV infection manifested as more obvious anterior segment inflammation and lower corneal endothelial cell density (CECD). RV infection showed a higher percentage of vitritis. In PSS group, CMV-associated PSS had a lower retinal nerve fiber layer thickness and CECD, worse visual prognosis as compared with non-virus-associated PSS (all P < 0.05). CONCLUSION: Our study identified 4 types of viral infection in FUS and 2 types of viral infection in PSS. Virus-associated patients are usually associated with more obvious clinical signs and poor visual prognosis.

20.
J Transl Med ; 22(1): 414, 2024 May 01.
Article En | MEDLINE | ID: mdl-38693538

Primary testicular lymphoma (PTL) is a rare lymphoma predominantly occurring in the elderly male population. It is characterized by a limited response to treatment and a heightened tendency towards relapse. Histologically, approximately 90% of PTL cases are classified as diffuse large B-cell lymphomas (DLBCL). Genetic features of PTL were delineated in a limited scope within several independent studies. Some of the articles which analyzed the genetic characterization of DLBCL have incorporated PTL samples, but these have been constrained by small sample sizes. In addition, there have been an absence of independent molecular typing studies of PTL. This report summarizes the common mutational features, copy number variations (CNVs) and molecular typing of PTL patients, based on whole-exome sequencing (WES) conducted on a cohort of 25 PTL patients. Among them, HLA, CDKN2A and MYD88 had a high mutation frequency. In addition, we found two core mutational characteristics in PTL including mutation in genes linked to genomic instability (TP53 and CDKN2A) and mutation in immune-related genes (HLA, MYD88, CD79B). We performed molecular typing of 25 PTL patients into C1 subtype with predominantly TP53 mutations and C2 subtype with predominantly HLA mutations. Notably, mutations in the TP53 gene predicted a poor outcome in most types of lymphomas. However, the C1 subtype, dominated by TP53 mutations, had a better prognosis compared to the C2 subtype in PTL. C2 subtype exhibited a worse prognosis, aligning with our finding that the mechanism of immune escape in PTL was primarily the deletions of HLA rather than PD-L1/PD-L2 alterations, a contrast to other DLBCLs. Moreover, we calculated the tumor mutation burden (TMB) and identified that TMB can predict prognosis and recurrence rate in PTL. Our study underscores the significance of molecular typing in PTL based on mutational characteristics, which plays a crucial role in prognostication and guiding therapeutic strategies for patients.


DNA Copy Number Variations , Genomics , Mutation , Testicular Neoplasms , Humans , Male , Testicular Neoplasms/genetics , Testicular Neoplasms/pathology , Testicular Neoplasms/classification , Mutation/genetics , DNA Copy Number Variations/genetics , Aged , Middle Aged , Lymphoma/genetics , Lymphoma/pathology , Lymphoma/classification , Exome Sequencing , Aged, 80 and over , Adult , Lymphoma, Large B-Cell, Diffuse/genetics , Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, Large B-Cell, Diffuse/classification
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