IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.

BACKGROUND: IFIH1 variants have been reported to be associated with immune-related disorders with/without seizures. It is unknown whether IFIH1 variants are associated with common epilepsy without acquired causes and the mechanism underlying phenotypic variation remains elusive. METHODS: Trio-based whole-exome sequencing was performed on patients with febrile seizures or epilepsy with antecedent febrile seizures. Previously reported variants were systematically reviewed to investigate genotype-phenotype associations. RESULTS: Two de novo heterozygous and three biallelic missense variants were identified in five patients with generalised epilepsy with antecedent febrile seizures. The variants were predicted to be damaging by in silico tools and were associated with hydrogen bonding changes to neighbouring amino acids or decreased protein stability. Patients exhibited an early onset age and became seizure-free with favourable outcome. Further analysis revealed that de novo missense variants located in the Hel region resulted in seizures with multiple neurological abnormalities, while those in the pincer domain or C-terminal domain led to seizures with normal neurodevelopment, suggesting a sub-molecular effect. Biallelic missense variants, which were inherited from unaffected parents and presented low allele frequencies in general populations, were associated with seizures without neurological abnormalities. Truncation variants were related to refractory epilepsy and severe developmental delay, suggesting a genotype-phenotype correlation. IFIH1 is predominantly expressed in the neonatal stage and decreases dramatically in the adulthood, which is consistent with the early onset age and favourable outcome of the patients. CONCLUSIONS: IFIH1 variants are potentially associated with generalised epilepsy with antecedent febrile seizures. The sub-molecular implication and genotype-phenotype association help explain phenotype variations of IFIH1 variants.

Phase separation of RNF214 promotes the progression of hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is one of the most common malignant tumors, and the expression and function of an uncharacterized protein RNF214 in HCC are still unknown. Phase separation has recently been observed to participate in the progression of HCC. In this study, we investigated the expression, function, and phase separation of RNF214 in HCC. We found that RNF214 was highly expressed in HCC and associated with poor prognosis. RNF214 functioned as an oncogene to promote the proliferation, migration, and metastasis of HCC. Mechanically, RNF214 underwent phase separation, and the coiled-coil (CC) domain of RNF214 mediated its phase separation. Furthermore, the CC domain was necessary for the oncogenic function of RNF214 in HCC. Taken together, our data favored that phase separation of RNF214 promoted the progression of HCC. RNF214 may be a potential biomarker and therapeutic target for HCC.

Differential Diagnosis of Pathological Type of Peripheral Lung Cancer with Multimodal Contrast-Enhanced Ultrasound.

OBJECTIVE: The goal of the work described here was to investigate the role of multimodal contrast-enhanced ultrasound in the differential diagnosis of peripheral lung cancer. METHODS: From April 2017 to July 2021, 109 patients with confirmed pulmonary malignant lesions who underwent CEUS examination were involved in our study. Seven patients were excluded because of the short duration of CEUS video or unsatisfactory imaging. Finally,102 patients with peripheral lung cancer were enrolled in this study. The maximum diameter of the lesions ranged from 1.6 to 13.0 cm (mean 6.2 ± 2.3 cm). On the basis of the pathological results, the patients were divided into the small cell lung cancer (SCLC) group and non-small cell lung cancer (NSCLC) group (including adenocarcinoma, lung squamous cell carcinoma and large cell neuroendocrine carcinoma). A Logiq E9 ultrasonic machine equipped with a 3.5 to 5.0 MHz C5-1 probe was used. Patient clinical information, CEUS features, CPI patterns and TIC parameters were analyzed and compared between different groups. Statistical analyses were performed with SPSS software and MedCalc software. The receiver operating characteristic curve was plotted. RESULTS: In the differential diagnosis of SCLC and NSCLC, color parametric imaging indicated great performance. NSCLC exhibited a centripetal enhancement pattern more frequently (72.7%), while SCLC exhibited an eccentric enhancement pattern more frequently (92.9%) (p < 0.001). In the differential diagnosis of adenocarcinoma and squamous cell carcinoma, logistic regression analysis revealed that patient age of onset ≤60 y, difference in arrival time between lung and tumor ≤3.8 s, drop time of the time-intensity curve >23.2 s and absence of internal necrosis on CEUS were independent predictors for adenocarcinoma (area under the curve = 0.861). CONCLUSION: In our study, multimodal contrast-enhanced ultrasound provided useful information in the differential diagnosis between small cell lung cancer and non-small cell lung cancer, especially between adenocarcinoma and squamous cell carcinoma.

Geographically and Temporally Weighted Regression in Assessing Dengue Fever Spread Factors in YunnanBorder Regions.

Objective: This study employs the Geographically and Temporally Weighted Regression (GTWR) model to assess the impact of meteorological elements and imported cases on dengue fever outbreaks, emphasizing the spatial-temporal variability of these factors in border regions. Methods: We conducted a descriptive analysis of dengue fever's temporal-spatial distribution in Yunnan border areas. Utilizing annual data from 2013 to 2019, with each county in the Yunnan border serving as a spatial unit, we constructed a GTWR model to investigate the determinants of dengue fever and their spatio-temporal heterogeneity in this region. Results: The GTWR model, proving more effective than Ordinary Least Squares (OLS) analysis, identified significant spatial and temporal heterogeneity in factors influencing dengue fever's spread along the Yunnan border. Notably, the GTWR model revealed a substantial variation in the relationship between indigenous dengue fever incidence, meteorological variables, and imported cases across different counties. Conclusion: In the Yunnan border areas, local dengue incidence is affected by temperature, humidity, precipitation, wind speed, and imported cases, with these factors' influence exhibiting notable spatial and temporal variation.

Evaluating the Performance of In silico Tools for PRRT2 Missense Variants.

BACKGROUND: Variants in the PRRT2 gene are associated with paroxysmal kinesigenic dyskinesia and other episodic disorders. With the employment of variant screening in patients with episodic dyskinesia, many PRRT2 variants have been discovered. Bioinformatics tools are becoming increasingly important for predicting the functional significance of variants. This study aimed to evaluate the performance of six in silico tools for PRRT2 missense variants. METHODS: Pathogenic PRRT2 variants were retrieved from the Human Gene Mutation Database (HGMD) and literature from the PubMed database. The benign set of non-deleterious variants was retrieved from the Genome Aggregation Database (gnomAD). The overall accuracy, sensitivity, specificity, positive predictive values, and negative predictive values of SIFT, PolyPhen2, MutationTaster, CADD, Fathmm, and Provean were analyzed. The MCC score and ROC curve were calculated. The GraphPad Prism 8.0 software was used to plot ROC curves for the six bioinformatics software. RESULTS: A total of 45 missense variants with confirmed pathogenicity were used as a positive set, and 222 missense variants were used as a negative set. The top three tools in accuracy are Fathmm, Provean, and MutationTaster. The top three predictors in sensitivity are SIFT, PolyPhen2, and CADD. Regarding specificity, the top three tools were Provean, Fathmm, and MutationTaster. In terms of the MCC and F-score, the highest degree was observed in Fathmm. Fathmm also had the highest AUC score. The cutoff values of Fathmm, CADD, PolyPhen2, and Provean were between the median prediction scores of the positive and negative sets. In contrast, the cutoff value of SIFT was below the median prediction score of the positive and negative sets. Fathmm had the highest accuracy. CONCLUSION: The prediction performance of six in silico tools differed among the parameters. Fathmm had the best prediction performance, with the highest accuracy and MCC/F-score for PRRT2 missense variants.

Robust polymer hybrid and assembly materials from structure tailoring to efficient catalytic remediation of emerging pollutants.

A massive amount of toxic substances and harmful chemicals are released every day into the outer environment, imposing serious environmental impacts on both land and aquatic animals. To date, research is constantly in progress to determine the best catalytic material for the effective remediation of these harmful pollutants. Hybrid nanomaterials prepared by combining functional polymers with inorganic nanostructures got attention as a promising area of research owing to their remarkable multifunctional properties deriving from their entire nanocomposite structure. The versatility of the existing nanomaterials' design in polymer-inorganic hybrids, with respect to their structure, composition, and architecture, opens new prospects for catalytic applications in environmental remediation. This review article provides comprehensive detail on catalytic polymer nanocomposites and highlights how they might act as a catalyst in the remediation of toxic pollutants. Additionally, it provides a detailed clarification of the processing of design and synthetic ways for manufacturing polymer nanocomposites and explores further into the concepts of precise design methodologies. Polymer nanocomposites are used for treating pollutants (electrocatalytic, biocatalytic, catalytic, and redox degradation). The three catalytic techniques that are frequently used are thoroughly illustrated. Furthermore, significant improvements in the method through which the aforementioned catalytic process and pollutants are extensively discussed. The final section summarizes challenges in research and the potential of catalytic polymer nanocomposites for environmental remediation.

Modulating the Activity and SO2 Resistance of α-Fe2O3 Catalysts for NH3-SCR of NOx via Crystal Facet Engineering.

The development of Fe-based catalysts for the selective catalytic reduction of NOx by NH3 (NH3-SCR of NOx) has garnered significant attention due to their exceptional SO2 resistance. However, the influence of different sulfur-containing species (e.g., ferric sulfates and ammonium sulfates) on the NH3-SCR activity of Fe-based catalysts as well as its dependence on exposed crystal facets of Fe2O3 has not been revealed. This work disclosed that nanorod-like α-Fe2O3 (Fe2O3-NR) predominantly exposing (110) facet performed better than nanosheet-like α-Fe2O3 (Fe2O3-NS) predominantly exposing (001) facet in NH3-SCR reaction, due to the advantages of Fe2O3-NR in redox properties and surface acidity. Furthermore, the results of the SO2/H2O resistance test at a critical temperature of 250 °C, catalytic performance evaluations on Fe2O3-NR and Fe2O3-NS sulfated by SO2 + O2 or deposited with NH4HSO4 (ABS), and systematic characterization revealed that the reactivity of ammonium sulfates on Fe2O3 catalysts to NO(+O2) contributed to their improved catalytic performance, while ferric sulfates showed enhancing and inhibiting effects on NH3-SCR activity on Fe2O3-NR and Fe2O3-NS, respectively; despite this, Fe2O3-NR showed higher affinity for SO2 + O2. This work set a milestone in understanding the NH3-SCR reaction on Fe2O3 catalysts in the presence of SO2 from the aspect of crystal facet engineering.

The influence of near-infrared therapy on arteriovenous fistula patency in haemodialysis patients: A multicentre, randomised, controlled clinical trial.

BACKGROUND: Arteriovenous fistula (AVF) is the preferred vascular access for patients undergoing haemodialysis (HD). AVF malfunction remains a major clinical problem and is a significant independent risk factor for death. Although far-infrared (FIR) therapy has been shown to reduce complications and improve the patency rate of AVFs in various studies, it has been cautiously recommended by the Kidney Disease Outcome Quality Initiative (KDOQI) guidelines for AVF care due to insufficient evidence. Therefore, it is necessary to identify more effective methods for preventing AVF dysfunction. Many in vitro studies and few clinical studies have examined the effects of near-infrared (NIR) therapy on the vasculature. This study will examine the effects of NIR therapy on AVF. METHODS: A randomised, controlled, open-label, multicentre trial will compare the effect of NIR on AVF patency after 1 year of therapy with that of a control group of patients with existing AVF. One group of patients received NIR treatment above their AVFs, whereas the control group received regular care. The primary outcome is the primary fistula patency rate within 12 months. In addition, acute changes in inflammatory, vasodilatory and haemodynamic parameters after a single treatment in the first 40 participants will be examined. This study was registered in the Clinical Trials Registry (ChiCTR2300071305) at https://register.clinicaltrials.gov/. DISCUSSIONS: This study will explore the long-term and acute effects of NIR on AVFs. The study findings will provide information that can be used to develop new technical support for the prevention of AVF dysfunction in patients undergoing haemodialysis.

Surface Coordination Environment Engineering on PtxCu1-x Alloy Catalysts for the Efficient Photocatalytic Reduction of CO2 to CH4.

Alloy catalysts have been reported to be robust in catalyzing various heterogeneous reactions due to the synergistic effect between different metal atoms. In this work, aimed at understanding the effect of the coordination environment of surface atoms on the catalytic performance of alloy catalysts, a series of PtxCu1-x alloy model catalysts supported on anatase-phase TiO2 (PtxCu1-x/Ti, x = 0.4, 0.5, 0.6, 0.8) were developed and applied in the classic photocatalytic CO2 reduction reaction. According to the results of catalytic performance evaluation, it was found that the photocatalytic CO2 reduction activity on PtxCu1-x/Ti showed a volcanic change as a function of the Pt/Cu ratio, the highest CO2 conversion was achieved on Pt0.5Cu0.5/Ti, with CH4 as the main product. Further systematic characterizations and theoretical calculations revealed that the equimolar amounts of Pt and Cu in Pt0.5Cu0.5/Ti facilitated the generation of more Cu-Pt-paired sites (i.e., the higher coordination number of Pt-Cu), which would favor a bridge adsorption configuration of CO2 and facilitate the electron transfer, thus resulting in the highest photocatalytic CO2 reduction efficiency on Pt0.5Cu0.5/Ti. This work provided new insights into the design of excellent CO2 reduction photocatalysts with high CH4 selectivity from the perspective of surface coordination environment engineering on alloy catalysts.

Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.

OBJECTIVES: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy. METHODS: Whole-exome sequencing (WES) was performed in cases (trios) with epilepsies of unknown causes. The damaging effects of variants were predicted by protein modeling and in silico tools. Previously reported APC2 variants were reviewed to analyze the genotype-phenotype correlations. RESULTS: Four pairs of compound heterozygous missense variants were identified in four unrelated patients with epilepsy without brain malformation/intellectual disability. All variants presented no or low allele frequencies in the controls. The missense variants were predicted to be damaging by silico tools, and affect hydrogen bonding with surrounding amino acids or decreased protein stability. Patients with variants that resulted in significant changes in protein stability exhibited more severe and intractable epilepsy, whereas patients with variants that had minor effect on protein stability exhibited relatively mild phenotypes. The previously reported APC2 variants in patients with complex cortical dysplasia with other brain malformations-10 (CDCBM10; MIM: 618677) were all truncating variants; in contrast, the variants identified in epilepsy in this study were all missense variants, suggesting a potential genotype-phenotype correlation. SIGNIFICANCE: This study suggests that APC2 is potentially associated with epilepsy without brain malformation/intellectual disability. The genotype-phenotype correlation helps to understand the underlying mechanisms of phenotypic heterogeneity.

The Roles of Non-coding RNA Targeting Astrocytes in Cerebral Ischemia.

Astrocytes are key targets for treating cerebral ischemia in the central nervous system. Non-coding RNAs (ncRNAs) participate in the pathological processes of astrocytes in cerebral ischemia. Recent reports suggest that ncRNAs ameliorate the outcome of cerebral ischemia by mediating astrocytes' inflammatory reaction, oxidative stress, excitotoxicity, autophagy, and apoptosis. Reconstructing cellular systems might offer a promising strategy for treating cerebral ischemia. This review briefly discusses the potential of ncRNAs as drug targets and explores the molecular regulatory mechanisms through which ncRNAs target astrocytes in cerebral ischemia. It provides an overview of the current research, discusses ncRNAs' implications as clinical markers for cerebral ischemia, and anticipates that ongoing research on ncRNAs may contribute to novel therapeutic approaches for treating this condition.

Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.

PURPOSE: The FAT1 gene encodes FAT atypical cadherin 1, which is essential for foetal development, including brain development. This study aimed to investigate the relationship between FAT1 variants and epilepsy. METHODS: Trio-based whole-exome sequencing was performed on a cohort of 313 patients with epilepsy. Additional cases with FAT1 variants were collected from the China Epilepsy Gene V.1.0 Matching Platform. RESULTS: Four pairs of compound heterozygous missense FAT1 variants were identified in four unrelated patients with partial (focal) epilepsy and/or febrile seizures, but without intellectual disability/developmental abnormalities. These variants presented no/very low frequencies in the gnomAD database, and the aggregate frequencies in this cohort were significantly higher than those in controls. Two additional compound heterozygous missense variants were identified in two unrelated cases using the gene-matching platform. All patients experienced infrequent (yearly/monthly) complex partial seizures or secondary generalised tonic-clonic seizures. They responded well toantiseizure medication, but seizures relapsed in three cases when antiseizure medication were decreased or withdrawn after being seizure-free for three to six years, which correlated with the expression stage of FAT1. Genotype-phenotype analysis showed that epilepsy-associated FAT1 variants were missense, whereas non-epilepsy-associated variants were mainly truncated. The relationship between FAT1 and epilepsy was evaluated to be "Strong" by the Clinical Validity Framework of ClinGen. CONCLUSIONS: FAT1 is a potential causative gene of partial epilepsy and febrile seizures. Gene expression stage was suggested to be one of the considerations in determining the duration ofantiseizure medication. Genotype-phenotype correlation helps to explain the mechanisms underlying phenotypic variation.

Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.

PURPOSE: Idiopathic generalized epilepsies (IGEs) are a common group of genetic generalized epilepsies with high genetic heterogeneity and complex inheritance. However, the genetic basis is still largely unknown. This study aimed to explore the genetic etiologies in IGEs. METHODS: Trio-based whole-exome sequencing was performed in 60 cases with IGEs. The pathogenicity of candidate genetic variants was evaluated by the criteria of the American College of Medical Genetics and Genomics (ACMG), and the clinical causality was assessed by concordance between the observed phenotype and the reported phenotype. RESULTS: Seven candidate variants were detected in seven unrelated cases with IGE (11.7%, 7/60). According to ACMG, a de novo SLC2A1 (c.376C>T/p.Arg126Cys) variant identified in childhood absence epilepsy was evaluated as pathogenic with clinical concordance. Six variants were assessed to be uncertain significance by ACMG, but then considered causative after evaluation of clinical concordance. These variants included CLCN4 hemizygous variant (c.2044G>A/p.Glu682Lys) and IQSEC2 heterozygous variant (c.4315C>T/p.Pro1439Ser) in juvenile absence epilepsy, EFHC1 variant (c.1504C>T/p.Arg502Trp) and CACNA1H (c.589G>T/p.Ala197Ser) both with incomplete penetrance in juvenile myoclonic epilepsy, and GRIN2A variant (c.2011C>G/p.Gln671Glu) and GABRB1 variant (c.1075G>A/p.Val359Ile) both co-segregated with juvenile myoclonic epilepsy. Among them, GABRB1 was for the first time identified as potential novel causative gene for IGE. SIGNIFICANCE: Considering the genetic heterogeneity and complex inheritance of IGEs, a comprehensive evaluation combined the ACMG scoring and assessment of clinical concordance is suggested for the pathogenicity analysis of variants identified in clinical screening. GABRB1 is probably a novel causative gene for IGE, which warrants further studies.

Clinical characteristics of COVID-19 infection in patients undergoing hemodialysis / 北京大学学报(医学版)

Objective:To analyze the clinical characteristics of hemodialysis patients with corona virus disease 2019(COVID-19)in a single-center from Beijing.Methods:Patients with COVID-19 who re-ceived regular hemodialysis at Peking University Third Hospital from November 30,2022 to January 4,2023 were selected as the study objects.Clinical symptoms,severity and duration of symptoms during the period of virus positive were investigated in the form of questionnaires,and the basic information of the patients,as well as the results of blood tests(routine blood and blood biochemistry,etc.)before and af-ter infection,dialysis treatment and the outcome of the disease were collected by consulting medical re-cords.Results:A total of 203 subjects were included in this study,including 148 mild cases(72.91％),23 medium cases(11.33％),32 severe and critical cases(15.76％),and 16(7.88％)deaths occured during the follow-up.Clinical symptoms mainly included respiratory symptoms(among which 81.77％had cough,68.97％had expectoration),fever(81.28％)and fatigue(65.52％),and fatigue and weakness had the longest duration[9(5,15)days]among all symptoms.Twenty-six patients(12.8％)reduced the dialysis sessions[1(1,2)times],25 patients(12.32％)had the behavior of early finishing dialysis(27 times),reducing the dialysis time by 30.0(20.0,30.5)minutes.Univa-riate analysis showed that the hemoglobin,creatinine,urea nitrogen and ultrafiltration decreased signi-ficantly after infection(P＜0.05).There were significant differences in age,albumin,hemoglobin,creatinine levels and vascular access types among the patients with different clinical subtypes,and the changes of dialysis sessions,fever,expectoration and fatigue degree were also different among the patients with different clinical subtypes(P＜0.05).Multivariate Logistic regression analysis showed that age(OR=1.051,95％CI:1.017-1.086,P=0.003)and albumin levels(OR=0.905,95％CI:0.803-1.019,P=0.098)corrected by fever,expectoration and fatigue levels were still associated with the oc-currence of pneumonia.Conclusion:The morbidity of pneumonia and the proportion of deaths in hemo-dialysis patients with COVID-19 were higher,and some clinical symptoms lasted for a longer time than the general population.During the infection period,the incidence of dialysis-related complications in-creased,hemoglobin and nutritional status decreased.Elderly patients and patients with low albumin level had a higher risk of developing pneumonia after infection.

Clinical use of quantitative computed tomography to evaluate the effect of less paraspinal muscle damage on bone mineral density changes after lumbar interbody fusion

Methods@#This retrospective analysis included a total of 155 patients who underwent single-level lumbar fusion, with 81 patients in the traditional group and 74 patients in the Wiltse group (less paraspinal muscle damage). QCT was used to measure the volumetric BMD (vBMD), Hounsfield unit value, and cross-sectional area of the paraspinal muscles at the upper instrumented vertebrae (UIV), vertebrae one segment above the UIV (UIV+1), and the vertebrae one segment above the UIV+1 (UIV+2). Statistical analyses were performed. @*Results@#No significant differences in general data were observed between the two groups (p>0.05). Strong correlations were noted between the preoperative and 1-week postoperative vBMD of each segment (p0.05). Vertebral BMD loss was significantly higher in UIV+1 and UIV+2 in the traditional group than in the Wiltse group (−13.6%±19.1% vs. −4.2%±16.5%, −10.8%±20.3% vs. −0.9%±37.0%; p0.05). @*Conclusions@#QCT can reliably determine BMD in the instrumented spine after lumbar interbody fusion. With QCT, we found that reducing paraspinal muscle destruction through the Wiltse approach during surgery can help preserve the adjacent vertebral BMD; however, it does not help increase the BMD in the instrumented vertebrae.

A case report of pachydermoperiostosis combined with posterior cruciate ligament femoral insertion avulsion fracture and literature review / 中华骨科杂志

This study reports a case of pachydermoperiostosis combined with posterior cruciate ligament femoral insertion avulsion fracture. The avulsion fracture was treated by arthroscopic surgery of suspension fixation. The symptom of the pachydermoperiostosis was relieved by non-steroidal anti-inflammatory drugs. Literature search and review were carried out by searching the key words of ("pachydermoperiostosis" OR "primary hypertrophic osteoarthropathy" OR "Touraine-solente-gole syndrome") OR ("posterior cruciate ligament" AND "avulsion fracture"). This patient was confirmed to be the first case reported suffering both diseases mentioned above. For the search results, there were 14 articles on posterior cruciate ligament femoral insertion avulsion fracture and 7 articles on pachydermoperiostosis. This study focused on the impact of pachydermoperiostosis on bone quality, possible factors for the avulsion fracture, and the advantages of arthroscopic surgery. Pachydermoperiostosis is a rare autosomal recessive disease. The incidence of posterior cruciate ligament femoral insertion avulsion fracture is extremely low. It is a seriously sports injury affecting the stability of the knee joint. Standardized surgical treatment can help patients obtain a satisfactory clinical outcome.

Research Progress on the Etiopathogenesis of Presbycusis / 听力学及言语疾病杂志

Presbycusis is a disease characterized by hidden and slowly progressive bilateral sensorineural hear-ing loss.Its occurrence and development is a multifactorial process.The expression of each factor varies greatly a-mong individuals.Currently,there have been some studies on the pathogenesis of presbycusis,which can be catego-rized into ion channel abnormalities,cochlear synaptopathy,reactive oxygen species,hormone effects,mitochondrial abnormalities,genetic factors and vari other factors.This review summarizes the pathogenesis of presbycusis in re-cent years.

Application of health self-management intervention program for metabolic syndrome patients in the bereaved population following the Wenchuan earthquake.

Background: The destructive Wenchuan earthquake has led to approximately 800,000 people being bereaved. In the previous cross-sectional study, we explored the long-term incidence of Metabolic Syndrome (MS) and studied its influencing factors among the bereaved population 12 years after the Wenchuan earthquake. Chronic disease self-management has become a recognized public health service. Studies have shown that demographic and genetic factors, stress, geographical environment, society, culture, dietary habits, lifestyle, and other aspects influence MS. Due to the Wenchuan earthquake being a serious stress event, the implementation of targeted interventions should be discussed further. Objectives: To verify the effect of applying a self-management intervention program for patients with MS among the bereaved population following the Wenchuan earthquake. Design: A randomized controlled trial (RCT) design was adopted. Participants: A total of 132 bereaved patients with MS following the Wenchuan earthquake constituted the sample. Methods: The study was based on the Cognitive-Phenomenological-Transaction, Chronic Disease Self-Management Program, and Patient Empowerment Conceptual Model, which combined with the latest evidence-based guidelines, were used to systematically evaluate cross-sectional results of this study that were used to construct a stress management-based health self-management intervention program and MS health self-management manual for bereaved patients with MS following the Wenchuan earthquake. In addition, we revised and completed a health self-management intervention program and health self-management manual for patients with MS by using the expert consultation method. General data were collected prior to intervention (T0). We collected the patients' MS disease-related physiological indicators before intervention (T0), after intervention (T1), and 2 months after intervention (T2). EipData3.1 software was used to input data in duplex and duplicate, and SPSS22.0 software was used for statistical analysis. Results: The variance analysis showed that the total score of healthy self-management behavior and the score of diet management, exercise management, drug management, and emotional management have intergroup effects, time effects, and group-time interaction effects (p < 0.05). When the differences between groups were further compared, we found that the total score and the score of six dimensions (excluding disease self-monitoring management) were higher than those of the control groups at T1 and T2, and the differences were statistically significant (p < 0.05). Conclusion: The intervention program of healthy self-management for patients with MS who come from bereaved families following the Wenchuan earthquake can effectively improve patients' health self-management behaviors.

A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population.

BACKGROUND AND AIM: The current procedure for identifying hereditary colorectal cancer (HCRC) is time consuming in clinical practice. This study aimed to develop a time-saving approach to diagnosing HCRC. METHODS: A total of 100 suspected HCRC patients were prospectively enrolled (cohort 1) and 116 colorectal cancer patients with DNA mismatch repair-deficient were retrospectively included (cohort 2). Next-generation sequencing (NGS) tests were performed on tumors and matched white blood cells (WBCs) or normal tissues. Using the conventional method upon WBC/normal tissue-based NGS data as a reference, the performance of the ColonCore method using tumor-only-based NGS data in predicting germline variants was explored in cohort 1 and validated in cohort 2. RESULTS: In cohort 1, the ColonCore method diagnosed 17 Lynch syndrome (LS) and 14 familial adenomatous polyposis (FAP); and by the conventional method, the cases were 16 and 10, respectively. The ColonCore method showed sensitivities of 100% in diagnosing LS (positive predictive value [PPV] 94.1%) and FAP (PPV 71.4%). Moreover, two of seven patients with multiple adenomas/polyps who did not meet existing clinical criteria for HCRC were predicted to harbor germline variants in APC and MUTYH. Additionally, the sensitivity of the ColonCore method in identifying LS patients from cohort 2 reached 85.7% with a PPV of 85.7%. CONCLUSION: The ColonCore method might be an acceptable tool for predicting germline variants associated with HCRC. Our work indicates the essentiality of NGS tests in CRC patients for precision diagnosis and treatment.