Prenatal diagnosis and molecular cytogenetic characterization of hereditary complex chromosomal rearrangements in a Chinese family

Objectives: To report a family with an extremely rare and previously undescribed complex chromosomal rearrangement (CCR). To explore the molecular cytogenetic mechanism of ‘octaradial chromosome’. Material and methods: G-banding karyotype analysis was performed on all the members of the family. Chromosomal microarray analysis(CMA) was performed on the five members of the family. Results: This case presented with a karyotypically balanced CCR (46,XX,t(2;4;11;5)(p21;q34;q21;p15)). The familial CCR was stably transmitted across three generations. Conclusions: We report an extremely rare and previously undescribed complex chromosomal arrangement that is transmitted across three generations. The clinical outcome of this CCR is complex. Careful characterization of all the breakpoint regions is required for prenatal diagnosis and genetic counseling

Predictive Value of Toll-like Receptor 4 in Peripheral Blood Mononuclear Cells in Combination with Serum Procalcitonin for Sepsis

Background Sepsis is an infection-caused systemic inflammatory response syndrome, with relatively high morbidity and fatality rate. Early diagnosis and treatment are vital for prevention and treatment of sepsis. However, there are no simple clinical biomarkers that could rapidly and effectively detecting sepsis. Objective To assess the combined predictive value of toll-like receptor 4 (TLR4) in peripheral blood mononuclear cells and serum procalcitonin (PCT) for sepsis. Methods One hundred and ten sepsis patients (sepsis group) , 113 patients with infection but without sepsis (non-sepsis group) , and 95 healthy individuals (control group) were recruited from Renmin Hospital of Wuhan University from October 2020 to November 2021. Sepsis patients were divided into non-shock subgroup and shock subgroup according to the shock situation. Laboratory indicators, TLR4 in peripheral blood mononuclear cells and serum PCT of three groups were collected and analyzed. The quick Sepsis-related Organ Failure Assessment (qSOFA) score, infectious pathogens, and sites of infection of sepsis and non-sepsis groups were comparatively analyzed. The receiver operating characteristic curve (ROC) and area under the curve (AUC) were used to analyze the diagnostic value of TLR4 mRNA and PCT, alone and in combination, for sepsis. Results The levels of red blood cell (RBC) count, white blood cell (WBC) count, neutrophil count, hemoglobin (Hb) , hematocrit (HCT) , platelet count, alanine aminotransferase (ALT) , aspartate aminotransferase (AST) and direct bilirubin (DBiL) differed significantly across the three groups (P<0.05) . Sepsis group had significantly elevated levels of WBC count, neutrophil count, ALT, AST and DBiL, and significantly decreased levels of RBC count, Hb, HCT and platelet count compared with other two groups (P<0.05) . Sepsis and non-sepsis groups had significant difference in qSOFA score (Z=-3.128, P=0.002) . Gram-negative bacteria were the most prevalent pathogenic microorganism in both sepsis and non-sepsis groups, and lung was the most infected site. There were significant differences between the two groups in infected pathogenic microorganisms and infected sites (P=0.033, 0.003) . The levels of TLR4 mRNA in peripheral blood mononuclear cells and PCT showed a successive decrease in sepsis group, non-sepsis group and control group (P<0.01) . The TLR4 mRNA levels in peripheral blood mononuclear cells of patients with sepsis induced by gram-positive bacteria, gram-negative bacteria, fungi and other pathogens in sepsis group were 0.154 (0.302) , 0.139 (0.493) , 0.119 (0.206) and 0.151 (0.336) , respectively, with no significant differences (H=0.378, P=0.945) . The level of TLR4 mRNA differed significantly between shock subgroup (n=75) 〔0.210 (0.330) 〕 and non-subgroup hose without (n=35) 〔0.118 (0.323) 〕 (Z=1.473, P=0.026) . For the prediction of sepsis, the AUC of TLR4 mRNA level was 0.813, with sensitivity of 80.00%, specificity of 68.97% and Youden index of 0.489 7, when the optimal cutoff value was defined as 0.056; the AUC of PCT was 0.818, with sensitivity of 87.63%, specificity of 75.94% and Youden index of 0.635 6, when the optimal cutoff value was defined as 0.070 μg/L; the AUC of TLR4 mRNA combined with PCT was 0.888, with sensitivity of 68.04%, sensitivity of 93.10% and Youden index of 0.611 4. Conclusion Multiple routine blood indicators and biomarkers abnormalities were found in sepsis patients. TLR4 mRNA level was associated with the severity of sepsis. TLR4 mRNA in peripheral blood mononuclear cells and serum PCT could be used as auxiliary predictors of sepsis, the combination of TLR4 mRNA and PCT could improve the predictive efficiency in sepsis, indicating a high clinical application value

Molecular Characterization, Expression, and Regulatory Signal Pathway Analysis of Inflammasome Component Apoptosis-Associated Speck-like Protein Containing a CARD Domain (ASC) in Large Yellow Croaker (<i>Larimichthys crocea</i>)

ASC (apoptosis-associated speck-like protein containing a caspase recruitment domain (CARD)) is the only adaptor involved in the formation of multiple types of inflammasomes. Accumulating evidence demonstrates that ASC plays a critical role in the protection of the host against pathogen infection. In this study, we identified an ASC gene in the large yellow croaker (Larimichthys crocea), namely LcASC, and then investigated the expression characteristics and related signal pathways. On one hand, LcASC has several conserved protein modules, i.e., an N-terminal PYD region, a C-terminal CARD region, and twelve α-helix structures. On the other hand, it has a high variable linker between PYD and CARD domains. Moreover, LcASC has varying degrees of expression in different tissues, among which the highest expression is observed in the spleen followed by the gills and skin. It also shows induced expressions in the head kidney, liver, and spleen following immune stimulation, especially Vibrio Parahaemolyticus infection. Further subcellular localization analysis showed that LcASC formed a clear aggregated speck in the cytoplasm close to the nucleus. In addition, we found 46 DEGs in a comparative transcriptome analysis between the LcASC overexpression group and the control vector group. Notedly, the up-regulated gene Fos and down-regulated gene DOK3 in LcASC overexpressed cells play important roles in the immune system. How ASC contacts these two genes needs to be clarified in upcoming studies. These findings collectively provide new insights into finfish ASC and its potential regulatory signaling pathway as well

Mixed Nickel-Cobalt-Molybdenum Metal Oxide Nanosheet Arrays for Hybrid Supercapacitor Applications

Mixed metal oxide nanomaterials have been demonstrated to be promising positive electrodes for energy storage applications because of the synergistic enhancement effects. In this work, nickel-cobalt-molybdenum metal oxide (NCMO) nanosheets with hierarchical, porous structures were directly developed on nickel foam (NF) through a hydrothermal method and ensuing annealing treatment. Electrochemical tests in three-electrode configurations revealed that the as-prepared NCMO nanosheets possessed high specific capacitance (1366 F g&minus;1 at the current density of 2 A g&minus;1), good rate capability (71.3% at the current density of 40 A g&minus;1), as well as excellent cycling stability (89.75% retention after 5000 cycles). Additionally, a hybrid supercapacitor was assembled and achieved an energy density of 46.2 Wh kg&minus;1 at a power density of 713 W kg&minus;1. Based on the systematic analysis of microstructure, morphology, and element compositions, the excellent electrochemical performance of the NCMO nanosheets could be attributed to the mesoporous feature, desirable compositions, excellent mechanical and electrical contacts, and fast ion/electron transportation rates. This study shows that the NCMO nanosheets offer great potentials for application in supercapacitors

Molecular Characterization, Expression, and Regulatory Signal Pathway Analysis of Inflammasome Component Apoptosis-Associated Speck-like Protein Containing a CARD Domain (ASC) in Large Yellow Croaker (Larimichthys crocea)

ASC (apoptosis-associated speck-like protein containing a caspase recruitment domain (CARD)) is the only adaptor involved in the formation of multiple types of inflammasomes. Accumulating evidence demonstrates that ASC plays a critical role in the protection of the host against pathogen infection. In this study, we identified an ASC gene in the large yellow croaker (Larimichthys crocea), namely LcASC, and then investigated the expression characteristics and related signal pathways. On one hand, LcASC has several conserved protein modules, i.e., an N-terminal PYD region, a C-terminal CARD region, and twelve &alpha;-helix structures. On the other hand, it has a high variable linker between PYD and CARD domains. Moreover, LcASC has varying degrees of expression in different tissues, among which the highest expression is observed in the spleen followed by the gills and skin. It also shows induced expressions in the head kidney, liver, and spleen following immune stimulation, especially Vibrio Parahaemolyticus infection. Further subcellular localization analysis showed that LcASC formed a clear aggregated speck in the cytoplasm close to the nucleus. In addition, we found 46 DEGs in a comparative transcriptome analysis between the LcASC overexpression group and the control vector group. Notedly, the up-regulated gene Fos and down-regulated gene DOK3 in LcASC overexpressed cells play important roles in the immune system. How ASC contacts these two genes needs to be clarified in upcoming studies. These findings collectively provide new insights into finfish ASC and its potential regulatory signaling pathway as well

The remodeling of metabolic brain pattern in patients with extracranial diffuse large B-cell lymphoma

Abstract Background Owing to the advances in diagnosis and therapy, survival or remission rates for lymphoma have improved prominently. Apart from the lymphoma- and chemotherapy-related somatic symptom burden, increasing attention has been drawn to the health-related quality of life. The application of 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG PET/CT) has been routinely recommended for the staging and response assessment of FDG-avid lymphoma. However, up till now, only a few researches have investigated the brain metabolic impairments in patients with pre-treatment lymphoma. The determination of the lymphoma-related metabolic brain pattern would facilitate exploring the tailored therapeutic regimen to alleviate not only the physiological, but also the psychological symptoms. In this retrospective study, we aimed to establish the diffuse large B-cell lymphoma-related pattern (DLBCLRP) of metabolic brain network and investigate the correlations between DLBCLRP and several indexes of the staging and response assessment. Results The established DLBCLRP was characterized by the increased metabolic activity in bilateral cerebellum, brainstem, thalamus, striatum, hippocampus, amygdala, parahippocampal gyrus and right middle temporal gyrus and by the decreased metabolic activity in bilateral occipital lobe, parietal lobe, anterior cingulate gyrus, midcingulate cortex and medial frontal gyrus. Significant difference in the baseline expression of DLBCLRP was found among complete metabolic response (CMR), partial metabolic response (PMR) and progressive metabolic disease (PMD) groups (P  0.05), the post-treatment declines of DLBCLRP expression were significantly positively correlated with Ann Arbor staging (r s  = 0.284, P < 0.05) and IPI (r s  = 0.297, P < 0.05). Conclusions The proposed DLBCLRP would lay the foundation for further investigating the cerebral dysfunction related to DLBCL itself and/or treatments. Besides, the expression of DLBCLRP was associated with the tumor burden of lymphoma, implying a potential biomarker for prognosis

Efficacy of Attention Bias Modification in Individuals with Depression: a Meta-analysis

Background Attention bias modification (ABM) , a newly emerging focus in emotion modification research, is a treatment to reduce individuals&apos; attention bias toward negative stimuli to improve their abnormal cognition via repeated computer-based attention trainings toward neutral or positive stimuli. Recent studies about depression treated using ABM are increasing, but based on insufficient evidence with various efficacy assessment indicators. Objective To systematically assess the effect of ABM in patients with depression. Methods Databases including PubMed, The Cochrane Library, EMBase, CBM, CNKI, WanFang Data and VIP were searched from inception to December 31st, 2021 for randomized controlled trials (RCTs) regarding depressive patients treated by ABM (experimental group with computer-based ABM trainings) compared with placebo trainings under the same conditions (control group with no interventions or sham ABM trainings) . Primary outcome measures included Hamilton Rating Scale for Depression (HAMD/HRSD) , Beck Depression Inventory (BDI) and Center for Epidemiologic Studies Depression Scale (CES-D) . Secondary outcome measures included the State-Trait Anxiety Inventory (STAI-T) and Ruminative Responses Scale (RRS) . Two researchers independently performed literature enrollment, and extracted data, and evaluated the risk of bias using Risk of Bias 2 (RoB 2.0) tool. RevMan 5.4 and Stata 12.0 were used for Meta-analysis. Results Thirteen RCTs involving 968 patients were included, among which one had two trials. Risk of bias was low in seven RCTs, unclear in four, and high in two. Meta-analysis showed that the overall improvement of depression, anxiety and rumination in the experimental group was better than that in the control group (P&lt;0.05) . Further analysis indicated that two groups had no significant differences in mean scores of BDI and HAMD within a follow-up period of less than two months (P&gt;0.05) . When the follow-up time was prolonged to at least two months, the mean BDI score was still similar in both groups (P&gt;0.05) . Conclusion ABM treatment could improve depressive, anxiety symptom and rumination in patients with depression, but its long-term effect needs to be studied further

Females with Type 2 Diabetes Mellitus Are Prone to Diabetic Retinopathy: A Twelve-Province Cross-Sectional Study in China

Aims. To investigate the distribution of diabetic retinopathy (DR) by sex in patients with type 2 diabetes mellitus (T2DM) in a twelve-province cross-sectional study in China. Methods. Patients with T2DM, whose ages were ≥18 years, were recruited from 76 cities/counties in 12 provinces in mainland China between January 2015 and December 2018. All participants received a standardized interview, eye examinations, and digital fundus photography. The presence and severity of DR were diagnosed and classified by retina specialists according to the DR domestic typing method. Results. A total of 12,766 participants (5963 males and 6803 females) were eligible for this study. The total prevalence of DR was 30.1%. Females exhibited a significantly higher prevalence of DR than males (31.1% vs. 29.0%, P=0.011). A multivariate logistic regression analysis confirmed that female sex was an independent predictor for a higher prevalence of DR after adjusting for age, the duration of diabetes, economic status, and the presence of hypertension (OR: 1.096, 95% CI: 1.013-1.186, P=0.023). Even after stratification by the diabetic duration, age, and economic status, female sex was still independently associated with the presence of DR in patients whose T2DM history was more than 10 years, whose ages were over 60 years, or who were in a relatively intermediate economic area. Conclusion. Females had a higher prevalence of DR than males in T2DM patients with a diabetic history of more than 10 years, ages over 60 years, or a relatively intermediate economic status