Improvement of Efficiency in Kesterite Solar Cells by Intentionally Inserting a Thin MoS2 Layer into the Back Interface.

A Mo(S,Se)2 interfacial layer is formed inevitably and uncontrollably between the Mo electrode and Cu2ZnSn(S,Se)4 (CZTSSe) absorber during the selenization process, which significantly influences the performance of CZTSSe solar cells. In this work, an ultrathin MoS2 layer is intentionally inserted into Mo/CZTSSe to reduce the recombination and thus optimize the interface quality. It is revealed that the absorber exhibits a continuous and compact morphology with bigger grains and remarkably without pinholes across the surface or cross-sectional regions after MoS2 modification. Benefitting from this, the shunt resistance (RSh) of the device increased evidently from ∼395 to ∼634 Ω·cm2, and simultaneously, the reverse saturation current density (J0) realized an effective depression. As a result, the power conversion efficiency (PCE) of the MoS2-modified device reaches 9.64% via the optimization of the thickness of the MoS2 layer, indicating performance improvements with respect to the MoS2-free case. Furthermore, the main contribution to the performance improvement is derived and analyzed in detail from the increased RSh, decreased J0, and diode ideality factor. Our results suggest that the Mo/CZTSSe interface quality and performance of CZTSSe solar cells can be modulated and improved by appropriately designing and optimizing the thickness of the inserted MoS2 layer.

Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project.

Congenital auricular deformity (CAD) is a complex phenotype that may occur as a single malformation or part of a congenital syndrome. The genetic architecture and utility of next-generation sequencing (NGS) in a sizable cross-sectional study of critically ill neonates with CAD have not yet been systematically investigated. This cross-sectional study investigated the genetic spectrum in critically ill neonates with CADs. Critically ill neonates with CADs (n = 251) were enrolled between August 8, 2016 and October 1, 2022. All neonates underwent NGS. The outcomes were molecular diagnostic yield, spectrum of genetic events, and clinical findings. Genetic findings were obtained in 107 neonates (42.6%), of which 67.3% (72/107) had pathogenic/likely pathogenic/variants of uncertain significance (P/LP/VUS) gene variations and 32.7% (35/107) had P/LP/VUS copy number variations (CNVs). The diagnostic rates of clinical exome sequencing were similar to those of exome sequencing. The logistic regression model revealed that CAD neonates with craniofacial abnormalities (OR = 4.15, 95% CI 2.29-7.53) or cardiovascular malformation (OR = 2.09, 95% CI 1.14-3.84) are more likely to be attributed to genetic causes. Follow-up analysis revealed that, compared to those in the undiagnosed group, the number of neonates whose care was withdrawn or who died was higher in the genetically diagnosed group (P < 0.05). This study identified a high incidence of genetic causes in critically ill neonates with CADs, with a combination of single-nucleotide variations and CNVs among the genetic causes of CAD. These findings highlight potential of NGS in the genetic testing of critically ill neonates with CADs.

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.

Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study, we report twelve unrelated individuals with EBF3 variants using next-generation sequencing. Five missense variants (four novel variants and one known variant) and seven copy number variations (CNVs) of EBF3 gene were identified. All of these patients exhibited developmental delay/intellectual disability. Ataxia was observed in 33% (6/9) of the patients, and abnormal muscle tone was observed in 55% (6/11) of the patients. Aberrant MRI reports were noted in 64% (7/11) of the patients. Four novel missense variants were all located in the DNA-binding domain. The pathogenicity of these variants was validated by in vitro experiments. We found that the subcellular protein localization of the R152C and F211L mutants was changed, and the distribution pattern of the R163G mutant was changed from even to granular. Luciferase assay results showed that the four EBF3 mutants' transcriptional activities were all significantly decreased (p < 0.01). Our study further expanded the gene mutation spectrum of EBF3-related NDD.

Fatty Acid Metabolism: A New Perspective in Breast Cancer Precision Therapy.

Breast cancer has a special tumor microenvironment compared to other solid tumors, which is usually surrounded by a large number of adipocytes that can produce and secrete fatty acids and adipokines. Adipocytes have a remodeling effect on breast cancer lipid metabolism, while fatty acids and lipid droplets can make breast cancer cells more aggressive. Lipid metabolism, especially the synthesis of fatty acids, is an important cellular process for membrane biosynthesis, energy storage, and signal molecule production. Therefore, blocking the lipid supply to cancer cells or changing the lipid composition has an important impact on the signal transmission and cell proliferation of cancer cells. Alterations in lipid availability can also affect cancer cell migration, induction of angiogenesis, metabolic symbiosis, evasion of immune surveillance, and cancer drug resistance. Fatty acid synthesis and metabolism have received extensive attention as potential targets for cancer therapy, and studies on modulating the tumor lipid microenvironment to improve the sensitivity of antitumor drugs have also been discussed; however, strategies to target these processes have not been translated into clinical practice.

Alpha-fetoprotein-producing hepatoid adenocarcinoma of the lung responsive to sorafenib after multiline treatment: A case report.

BACKGROUND: Hepatoid adenocarcinoma of the lung (HAL) is an extremely rare malignant tumor, and many patients with HAL exhibit high levels of alpha-fetoprotein (AFP) expression. Currently, there is no standardized treatment strategy for advanced HAL and its prognosis is poor. CASE SUMMARY: We report a 55-year-old man with unresectable AFP-related HAL. The largest cross-sectional area of the mass in the upper lobe of the left lung at the beginning of treatment was 8.46 cm × 6.53 cm. The patient's serum AFP level was 9283 ng/mL. The mass increased in size to 8.86 cm × 8.21 cm after two courses of platinum-based combination chemotherapy and immunotherapy, and serum AFP reached its highest level (71232.2 ng/mL). The patient was treated with sorafenib (400 mg twice daily, per os). Forty days later, the mass was reduced to 5.63 cm × 5.29 cm and serum AFP level dropped to 786.8 ng/mL. The patient achieved partial remission for > 9 mo with sorafenib and an excellent biomarker response, as well as survival > 13 mo, which is among the longest reported for unresectable stage IV HAL. CONCLUSION: This is the first report to document successful treatment of unresectable AFP-related HAL with single-agent sorafenib after multiline therapy.

Sporoderm-Broken Spores of Ganoderma lucidum Sensitizes Ovarian Cancer to Cisplatin by ROS/ERK Signaling and Attenuates Chemotherapy-Related Toxicity.

Although platinum-based chemotherapeutics such as cisplatin are the cornerstone of treatment for ovarian cancer, their clinical application is profoundly limited due to chemoresistance and severe adverse effects. Sporoderm-broken spores of Ganoderma lucidum (SBSGL) have been reported to possess antitumor effects. However, the function and mechanism of SBSGL and its essential composition, ganoderic acid D (GAD), in the cisplatin therapy on ovarian cancer have yet to be investigated. Here, we investigated the combined effect of SBSGL and cisplatin in an ovarian tumor xenograft model. The results showed that combining SBSGL with cisplatin reduced tumor growth and ameliorated cisplatin-induced intestinal injury and myelosuppression. We also confirmed that GAD could enhance the therapeutic effect of cisplatin in SKOV3 and cisplatin-resistant SKOV3/DDP cells by increasing the intracellular reactive oxygen species (ROS). Mechanistically, we proved that ROS-mediated ERK signaling inhibition played an important role in the chemo-sensitization effect of GAD on cisplatin in ovarian cancer. Taken together, combining SBSGL with cisplatin provides a novel therapeutic strategy against ovarian cancer.

Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.

X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is a primary immunodeficiency caused by loss-of-function variants in the MAGT1 gene. Only two patients from one family have been diagnosed with XMEN in China. In this study, we retrospectively analyzed the genetic, clinical, and immunological characteristics of six pediatric patients in a Chinese cohort. Medical records were retrieved, immunological phenotypes were assessed, and infectious microbes in patients were detected. Six male patients (mean age, 6.3 years) from five unrelated families were genetically diagnosed as XMEN. Five patients presented with a major complaint of elevated liver enzymes, while one patient was referred for recurrent fever, cough and skin rash. Five patients developed EBV viremia, and one patient developed non-Hodgkin's lymphoma. Histopathological findings from liver biopsy tissues showed variable hepatic steatosis, fibrosis, inflammatory infiltration, and glycogenosis. Immune phenotypes included CD4 T-cell lymphopenia, elevated B cells, inverted CD4/CD8 ratios, and elevated αßDNTs. No pathogenic microbes other than EBV were identified in these patients. This study reports the clinical and molecular features of Chinese patients with XMEN. For patients with transaminase elevation, chronic EBV infection and EBV-associated lymphoproliferative disease, the possibility of XMEN should be considered in addition to isolated liver diseases.

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.

Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing.

PITX2 methylation: a novel and effective biomarker for monitoring biochemical recurrence risk of prostate cancer.

AIMS: Prostate cancer is one of the most common malignancies in men. Biochemical recurrence (BCR) and progression following curative treatment pose a significant public health challenge. Thus, it is essential to explore effective biomarkers for disease progression monitoring and risk stratification. The promoter region of the paired-like homeodomain transcription factor 2 (PITX2) gene has been found to be frequently methylated in prostate cancer. However, the prognostic role of PITX2 methylation in prostate cancer and which patients most likely to be recommended for PITX2 methylation tests to assess BCR risk remain controversial. Therefore, a systematic review was performed to explore the relationship of PITX2 methylation with the BCR risk of prostate cancer. METHODS: The PubMed, EMBASE, and Cochrane Library databases were systematically searched for eligible studies. Seven studies with a total of 2185 patients were included. Pooled hazard ratios (HRs) and corresponding 95% confidence intervals (CIs) were calculated. RESULTS: The overall HR was 2.71 (95% CI, 2.21-3.31), suggesting that PITX2 methylation has an adverse impact on BCR of prostate cancer. The pooled estimate of 5-year BCR-free survival for patients with a high methylation status was significantly lower than that for patients with a low methylation status (71% vs 90%; odds ratio [OR] = 3.50; 95% CI, 2.67-4.60, P = .000). A subgroup analysis was conducted according to detection method; the combined HRs were 2.68 (95% CI, 2.02-3.55) for quantitative methylation-specific PCR (qMSP) and 3.29 (95% CI, 2.31-4.68) for microarray EpiChip. In subgroups defined by region, Gleason score, pathological stage, surgical margin status and ethnicity, high methylation status was also associated with BCR of prostate cancer. CONCLUSIONS: As an effective biomarker, PITX2 methylation is feasible for individualized BCR risk assessment of prostate cancer following radical prostatectomy.

Epidemiological analysis of pulmonary tuberculosis among students and teachers in Liangyungang from 2008 to 2017 / 中国学校卫生

Objective@#To understand the prevalence and development of pulmonary tuberculosis(PTB) in students and teachers in Liangyungang over the last ten years, and provide reference for PTB surveillance and control at schools and colleges.@*Methods@#The epidemic information of PTB among students and teachers in Lianyungang during 2008-2017 was collected from Chinese Infectious Disease Report Information Management System and Chinese Tuberculosis Information Management System, and analyzed with quantitative description method.@*Results@#From 2008 to 2017, 1 112 students and teathers with PTB were found in Lianyungang City, the average reported incidence was 14.03/100 000, pathogenic positive incidence was 4.52/100 000. The above two rates both showed a trend of decline year by year (Z=4.55,6.83, P<0.01). The incidence of registered PTB in schools in the second quarter was the highest, especially in April. Guanyun County has the highest incidence. The average age was (20.11±7.54) years old, and the obvious high-incidence age group was 16-21; the sex ratio between men and women was 1.87∶1. Most of the 1 112 patients were Han, accounting for 99.64%, the rest were Hui, Tujia and Uygur. Teachers’ reported incidence was positively correlated with students’ reported morbidity (rs=0.93, P<0.01); there were differences between school population and general population in gender, patient origin, etiological results, treatment classification and positive patients’ treatment outcome (χ2=49.54, 528.27, 63.55, 121.40, 9.80, P<0.05).@*Conclusion@#Overall, the reported incidence of PTB in schools in Lianyungang City has been decreasing year by year, however,it should not be taken lightly. Prevention and control of PTB in schools should be further strengthened.

Distinctive features of immunostaining and mutational load in primary pulmonary enteric adenocarcinoma: implications for differential diagnosis and immunotherapy.

BACKGROUND: Primary pulmonary enteric adenocarcinoma (PEAC) is an extremely rare variant of invasive lung cancer. It is highly heterogeneous while shares some common morphologic and immunohistochemical features with usual pulmonary adenocarcinoma (PAC) and colorectal adenocarcinoma (CRAC), making the differential diagnosis difficult. At present there are only limited studies about distinctive features of primary PEAC and the results are often inconsistent. METHODS: We retrospectively analyzed total 129 primary PEACs and 50 CRACs that were published since 1991 or diagnosed in our centre. Among them eight typical samples of primary PEACs and usual PACs were detected by targeted exome sequencing. RESULTS: The combination of CK7+/CDX2+ acquires high sensitivity (71.3%) and specificity (82%) in differential diagnosis of PEACs from CRAC. The primary PEACs harbor a high incidence of KRAS mutation but almost absent of EGFR mutation. Moreover, compared with usual PACs, the primary PEACs have higher nonsynonymous tumor mutation burden and more frequent MMR mutation. CONCLUSIONS: The combination of CK7+/CDX2+ immunostaining and the distinctive genetic signatures, including low incidence of sensitivity genes mutations and high tumor mutation burden, is an important supplementary to the clinical differential diagnosis of primary PEACs. Our findings thus have significant implications for development of individualized treatment strategy in these patients.

FGF19 genetic amplification as a potential therapeutic target in lung squamous cell carcinomas.

BACKGROUND: Although FGF19 gene aberrations are associated with carcinogenesis and progression in human cancers, the roles of FGF19 genetic amplification and expression in Chinese patients with lung squamous cell carcinoma (LSCC) and FGF19 amplification as a potential therapeutic target for LSCC are not well understood. METHODS: Fluorescence in situ hybridization analysis and quantitative real-time-PCR was used to detect FGF19 genetic amplification and FGF19 messenger RNA expression in LSCC tumor and paired adjacent samples. Small interfering RNA and short hairpin RNA were used to knockdown FGF19 in vitro and in vivo. RESULTS: FGF19 amplification was identified in a subset of LSCC patients (37.5%, 15/40), and upregulation of FGF19 expression was found in 60% (24/40) of tumor tissues compared to adjacent non-tumorous tissues. Correlation analysis with clinicopathologic parameters showed that FGF19 upregulation was significantly associated with heavy smoking. Small interfering RNA knockdown of FGF19 led to the significant inhibition of cell growth and induced apoptosis in LSCC cells carrying the amplified FGF19 gene, but these effects was not observed in non-amplified LSCC cells. Interfering FGF19 expression with short hairpin RNA also resulted in tumor growth inhibition and induced apoptosis in LSCC xenografts with amplified FGF19 in tumor cells. CONCLUSION: Our results suggested that FGF19 signaling activation is required for cell growth and survival of FGF19 amplified LSCC cells, both in vitro and in vivo. Intervention of FGF19 activation could be a potential therapeutic strategy for LSCC patients with FGF19 amplification.

Effect of low-fat diet on breast cancer survival: a meta-analysis.

BACKGROUND: Even though many studies have examined the possible effect of low-fat diet on breast cancer survival, the relationship remains unclear. OBJECTIVES: To summarize the current evidence about the effect of post-diagnostic low-fat diet on recurrence and all-cause mortality of breast cancer. METHODS: We conducted a search of Pubmed, Embase, Web of Science, and Cochrane Library and as a result two randomized controlled trials (RCT) and one large multi-center prospective cohort study with 9,966 breast cancer patients were included in this report. RESULTS: Post-diagnostic low-fat diet reduced risk of recurrence of breast cancer by 23% (HR=0.77, 95%CI 0.63 to 0.94, P=0.009) and all cause mortality of breast cancer by 17% (HR=0.83, 95%CI 0.69 to 1.00, P=0.05). CONCLUSIONS: This meta-analysis suggested the post-diagnostic low-fat diet can improve breast cancer survival by reducing risk of recurrence. However, more trials of the relationship between low-fat diet and all- cause mortality of breast cancer are still needed.

[Clinical study of analgesic effect of lornoxicam in nasal packing].

OBJECTIVE: To explore the pain control effect of lornoxicam on patients after nasal packing. METHOD: A total of 56 patients undergoing nasal packing between January 2011 and August 2011 were randomly divided into the treatment group and control group. (1) Treatment group: routinely given lornoxicam for injection 8 mg(2 ml), intravenous injection, twice a day; (2) CONTROL GROUP: given saline 2 ml, intravenous injection, twice a day, other treatments are the same with the treatment group. Visual analog scale was used to record the painful severity of nose and head at 3, 6, 12, 24 and 48 h,and record the sleep quality score at 24 and 48 h. RESULT: The pain in nose and head and night sleeping in treatment group were all significantly better than that in control group. CONCLUSION: The analgesic effect of lornoxicam in nasal packing is good, with no evident adverse reactions.