NAA10 gene related Ogden syndrome with obstructive hypertrophic cardiomyopathy: A rare case report.

RATIONALE: Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. Reported cases of this syndrome are approximately 20 children and are associated with facial dysmorphism, growth delay, developmental disorders, congenital heart disease, and arrhythmia. PATIENT CONCERNS: We present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C>T, p.(Arg83Cys)]. During infancy, she exhibited features such as left ventricular hypertrophy, protruding eyeballs, and facial deformities. DIAGNOSIS: Clinical diagnosis included Ogden syndrome, congenital heart disease (obstructive hypertrophic cardiomyopathy, left ventricular outflow tract obstruction, mitral valve disease, tricuspid valve regurgitation), tonsillar and adenoidal hypertrophy, and speech and language delay. INTERVENTIONS: The girl was considered to have hypertrophic cardiomyopathy (HCM) and received oral metoprolol as a treatment for HCM at our hospital. The drug treatment effect was not ideal, and her hypertrophy myocardial symptoms were aggravated and she had to be hospitalized for surgery. OUTCOMES: The girl underwent a modified Morrow procedure under cardiopulmonary bypass and experienced a favorable postoperative recovery. No pulmonary infections or significant complications were observed during this period. The patient's family expressed satisfaction with the treatment process. LESSONS: The case emphasizes the HCM of Odgen syndrome, and early surgery should be performed if drug treatment is ineffective.

Polyvinyl alcohol/chitosan based nanocomposite organohydrogel flexible wearable strain sensors for sports monitoring and underwater communication rescue.

Hydrogel-based flexible wearable sensors have garnered significant attention in recent years. However, the use of hydrogel, a biomaterial known for its high toughness, environmental friendliness, and frost resistance, poses a considerable challenge. In this study, we propose a stepwise construction and multiple non-covalent interaction matching strategy to successfully prepare dynamically physically crosslinked multifunctional conductive hydrogels. These hydrogels self-assembled to form a rigid crosslinked network through intermolecular hydrogen bonding and metal ion coordination chelation. Furthermore, the freeze-thawing process promoted the formation of poly(vinyl alcohol) microcrystalline domains within the amorphous hydrogel network system, resulting in exceptional mechanical properties, including a tensile strength (2.09 ± 0.01 MPa) and elongation at break of 562 ± 12 %. It can lift 10,000 times its own weight. Additionally, these hydrogels exhibit excellent resistance to swelling and maintain good toughness even at temperatures as low as -60 °C. As a wearable strain sensor with remarkable sensing ability (GF = 1.46), it can be effectively utilized in water and underwater environments. Moreover, it demonstrates excellent antimicrobial properties against Escherichia coli (Gram-negative bacteria). Leveraging its impressive sensing ability, we combine signal recognition with a deep learning model by incorporating Morse code for encryption and decryption, enabling information transmission.

OncoCTMiner: streamlining precision oncology trial matching via molecular profile analysis.

By establishing omics sequencing of patient tumors as a crucial element in cancer treatment, the extensive implementation of precision oncology necessitates effective and prompt execution of clinical studies for approving molecular-targeted therapies. However, the substantial volume of patient sequencing data, combined with strict clinical trial criteria, increasingly complicates the process of matching patients to precision oncology studies. To streamline enrollment in these studies, we developed OncoCTMiner, an automated pre-screening platform for molecular cancer clinical trials. Through manual tagging of eligibility criteria for 2227 oncology trials, we identified key bio-concepts such as cancer types, genes, alterations, drugs, biomarkers and therapies. Utilizing this manually annotated corpus along with open-source biomedical natural language processing tools, we trained multiple named entity recognition models specifically designed for precision oncology trials. These models analyzed 460 952 clinical trials, revealing 8.15 million precision medicine concepts, 9.32 million entity-criteria-trial triplets and a comprehensive precision oncology eligibility criteria database. Most significantly, we developed a patient-trial matching system based on cancer patients' clinical and genetic profiles, which can seamlessly integrate with the omics data analysis platform. This system expedites the pre-screening process for potentially suitable precision oncology trials, offering patients swifter access to promising treatment options. Database URL  https://oncoctminer.chosenmedinfo.com.

Global burden of atrial fibrillation/atrial flutter and its attributable risk factors from 1990 to 2019.

AIMS: The aim of this study was to estimate the global burden of atrial fibrillation (AF)/atrial flutter (AFL) and its attributable risk factors from 1990 to 2019. METHODS AND RESULTS: The data on AF/AFL were retrieved from the Global Burden of Disease Study (GBD) 2019. Incidence, disability-adjusted life years (DALYs), and deaths were metrics used to measure AF/AFL burden. The population attributable fractions (PAFs) were used to calculate the percentage contributions of major potential risk factors to age-standardized AF/AFL death. The analysis was performed between 1990 and 2019. Globally, in 2019, there were 4.7 million [95% uncertainty interval (UI): 3.6 to 6.0] incident cases, 8.4 million (95% UI: 6.7 to 10.5) DALYs cases, and 0.32 million (95% UI: 0.27 to 0.36) deaths of AF/AFL. The burden of AF/AFL in 2019 and their temporal trends from 1990 to 2019 varied widely due to gender, Socio-Demographic Index (SDI) quintile, and geographical location. Among all potential risk factors, age-standardized AF/AFL death worldwide in 2019 were primarily attributable to high systolic blood pressure [34.0% (95% UI: 27.3 to 41.0)], followed by high body mass index [20.2% (95% UI: 11.2 to 31.2)], alcohol use [7.4% (95% UI: 5.8 to 9.0)], smoking [4.3% (95% UI: 2.9 to 5.9)], diet high in sodium [4.2% (95% UI: 0.8 to 10.5)], and lead exposure [2.3% (95% UI: 1.3 to 3.4)]. CONCLUSION: Our study showed that AF/AFL is still a major public health concern. Despite the advancements in the prevention and treatment of AF/AFL, especially in regions in the relatively SDI quintile, the burden of AF/AFL in regions in lower SDI quintile is increasing. Since AF/AFL is largely preventable and treatable, there is an urgent need to implement more cost-effective strategies and interventions to address modifiable risk factors, especially in regions with high or increased AF/AFL burden.

Helicobacter pylori Infection Maybe a Risk Factor for Cardiac Syndrome X.

Purpose: Cardiac syndrome X (CSX) is a condition with normal coronary angiography but angina pectoris. Chronic inflammation caused by Helicobacter pylori (H. pylori) infection may play a pathogenic role in CSX. Therefore, we conducted a meta-analysis to explore the relationship between H. pylori infection and risk of CSX. Methods: A systematic search in the Web of Science, Medline, Embase and Chinese databases (CNKI and Wanfang) was conducted up to October 2021. Articles on the association between H. pylori infection and the risk of CSX were included and were analyzed by R software (version 4.1.0). Results: Ten case-control studies involving 703 CSX patients and 731 healthy controls were included. H. pylori infection was associated with an increased risk of CSX (OR: 8.29, 95% CI: 4.64-14.82). We also found a significant association in those 25-40 years of age (OR: 1.34, 95% CI: 1.04-1.72), those 40-50 years of age (OR: 11.27, 95% CI: 4.29-29.61), those over 50 years of age (OR: 7.18, 95% CI: 3.59-14.36), those in developing countries [Iran (OR: 12.99, 95% CI: 8.61-19.60) and China (OR: 5.14, 95% CI: 3.09-8.56)]. However, this association was not apparent in a developed country [Italy (OR: 0.93, 95% CI: 0.37-2.33)]. Conclusions: Our study suggested a possible association between H. pylori infection and the risk of CSX. Its pathogenicity is stronger in middle-aged individuals and some developing countries. However, more studies are needed to further investigate whether early eradication of H. pylori can reduce the incidence rate of CSX, especially in middle-aged individuals and some developing countries.

An Updated Meta-Analysis of the Relationship Between Helicobacter pylori Infection and the Risk of Coronary Heart Disease.

Background: Coronary heart disease (CHD) is one of the leading causes of mortality in the world. Although the traditional risk factors for CHD have been identified, it seems that there are still many CHD cases without these factors. Previous studies have hypothesized that Helicobacter pylori (H. pylori) infection was associated with the risk of CHD. Objective: The association between H. pylori infection and the risk of CHD was studied using a systematic evaluation and meta-analysis method. Methods: In order to find relevant studies, four electronic databases were systematically searched until August 2021. According to the inclusion and exclusion criteria, studies were screened and data were extracted. Under the random-effects or the fixed-effects model, the odds ratio (OR) and 95% confidence interval (95% CI) were combined. All analyses were conducted using Review Manager software (RevMan 5.4). Results: Among the included studies, 2 studies were analyzed for H. pylori stool antigen test, 2 studies were analyzed for H. pylori histological staining test, 13 studies were analyzed for the anti-CagA test, and 38 studies were analyzed for the anti-H. pylori IgG test. The pooled results revealed that positive anti-H. pylori IgG was significantly associated with an increased risk of CHD (OR, 1.58; 95% CI: 1.34-1.87). Similarly, positive anti-CagA, positive H. pylori stool antigen, and positive H. pylori histological staining were significantly associated with the development of CHD with (OR: 1.33, 95% CI: 1.16-1.53), (OR: 3.50, 95% CI: 1.60-7.66), and (OR: 1.78, 95% CI: 1.12-2.83), respectively. Conclusion: This meta-analysis showed that H. pylori infection increased the risk of CHD. However, more studies are needed to further investigate whether early eradication of H. pylori may reduce the morbidity of CHD.

The deubiquitinating enzyme ATXN3 promotes the progression of anaplastic thyroid carcinoma by stabilizing EIF5A2.

Ataxin-3 (ATXN3) is a ubiquitous deubiquitinating enzyme that plays an essential role in the carcinogenesis of numerous tumors and stabilizes the expression of substrates by deubiquitination. However, the functional role of ATXN3 in anaplastic thyroid carcinoma (ATC) remains unknown. In this research, we report that ATXN3 was overexpressed in ATC compared to that in paracancerous samples. Moreover, various gain/loss functional assays were performed to indicate that ATXN3 overexpression enhanced ATC cell proliferation and metastasis. We also found that ATXN3 and eukaryotic translation initiation factor 5A2 (EIF5A2) protein levels in ATC tissues are positively correlated, and ATXN3 promotes the proliferation and metastasis of ATC cells through EIF5A2. Mechanistically, ATXN3 promotes EIF5A2 expression by directly binding to EIF5A2 to reduce its ubiquitination and degradation. Therefore, for the first time, we clarified the role of ATXN3 in the carcinogenesis of ATC cells, which provides novel insights into potential therapeutic targets for ATC progression.

Transcriptomic analysis of interstock-induced dwarfism in Sweet Persimmon (Diospyros kaki Thunb.).

Growth monitoring indicated that the height of 'Kanshu' plants with 'Nantong-xiaofangshi' as an interstock was significantly shorter than that of 'Kanshu' plants with no interstock. A transcriptome analysis of the two graft combinations ('Kanshu'/Diospyros lotus and 'Kanshu'/'Nantong-xiaofangshi'/Diospyros lotus) was conducted to explore the dwarfing genes related to the use of the 'Nantong-xiaofangshi' interstock. Hormone levels and water conductance were also measured in these two graft combinations. The results indicated that the levels of both IAA and GA were lower in 'Kanshu' that had been grafted onto the 'Nantong-xiaofangshi' interstock than in 'Kanshu' with no interstock; additionally, the water conductance was lower in grafts with interstocks than in grafts without interstocks. The expression of AUX/IAA and auxin-responsive GH3 genes was enhanced in scions grafted on the interstock and was negatively correlated with the IAA content and growth of scions. The expression of GA2ox, DELLA, and SPINDLY genes were also upregulated and associated with a decrease in the level of GA in scions grafted on the interstock. Since one of the GA2ox unigenes was annotated as DkGA2ox1 in Diospyros kaki, but was not functionally validated, a functional analysis was conducted in transgenic tobacco. Overexpression of DkGA2ox1 in transgenic plants resulted in a dwarf phenotype that could be recovered by the exogenous application of GA3. We conclude that the 'Nantong-xiaofangshi' interstock affects the water conductance and expression of genes related to the metabolism and transduction of IAA and GA in the grafted scion and thus regulates phytohormone levels, producing dwarfing.

Research trends on bats in China: A twenty-first century review.

In this century, China has sustained unparalleled economic development, leading to exponentially growing investments in scientific research. Yet, the demand for research-funding is large and tracing the current knowledge is a key step to define priority research topics. In this same span, studies on bats in China have uncovered an overlooked diversity and revealed novelties in bats' evolutionary history and life-history aspects. All this 21st-century knowledge, however, is scattered and a large part is concealed from most of the international scientific community in Mandarin-language articles. Here, we summarize the post-millennium (2000-2017) research on bats in China and point out trends and future directions based on neglected topics, groups, and regions. In addition, we provide an up-to-date list of bat species in China. We retrieved 594 publications related to bats in China, nearly half were written in Mandarin. At least 147 bat species are present in China, which places it among the most bat-rich countries in the world. There was a significant positive trend on the number of publications, from 12.5 annual average in 2000-2005 to 46.5 in recent years, reflecting the Chinese economic-scientific development in this century. We found marked taxonomic and spatial biases. Half of the studies in this century focused on Rhinolophus, Myotis, and Hipposideros, and the southern and eastern provinces were the most studied. Systematic/taxonomy and Ecology were the predominant topics post-millennium, whereas only 10 articles have clear conservation-driven goals. Our review shows that the majority of studies were focused on the least concern, cave-dweller species, and on bat-rich provinces. Future projects should address the effects of human-modified landscapes on bat community to define proper conservation actions. We discuss some priority actions and projects that will help to enhance bat protection in China.

The effect of graphene oxide on adventitious root formation and growth in apple.

Graphene, a new type of nanomaterial, has unique physical properties and important potential biological applications. However, few studies have been conducted on the environmental impact of graphene. Therefore, to explore the effect of graphene on plants, three-week-old, tissue-cultured 'Gala' apple plants (Malus domestica) were treated with different concentrations (0, 0.1, 1, 10 mg/L) of graphene oxide (GO) and examined after 40 days. Results indicated that adventitious root length, moisture content and the number of lateral roots were all inhibited by 0.1-10 mg/L GO. At 0.1 and 1 mg/L GO, however, the number of adventitious roots and the rooting rate exhibited a significant increase, relative to the control (no GO). Treatment with GO increased the activities of oxidative stress enzymes including catalase (CAT), peroxidase (POD), and superoxide dismutase (SOD) in the apple plants, relative to controls. Malondialdehyde (MDA) levels were also significantly decreased at 10 mg/L GO. Treatment of apple plantlets with 0.1 mg/L GO increased the transcript abundance of auxin efflux carrier (PIN7, ABCB1) genes and auxin influx carrier (LAX2, LAX3) genes but inhibited the transcript levels of the ARR3 gene, which involved in cytokinin biosynthesis. Additionally, the transcript levels of ARRO1, ARF19, and TTG1, which play roles in the formation of adventitious roots, lateral roots, and root hairs, respectively, were all decreased in response to treatment with 1 and 10 mg/L GO. Collectively, the results indicate that treatment of 'Gala' apple plants with 0.1 mg/L GO had a positive effect on root formation but a negative effect on root growth. This response may be related to the negative impact of GO on cellular structure and function.

[Expression and significance of VEGF, VEGF-C, and VEGF-D in papillary thyroid carcinoma].

BACKGROUND & OBJECTIVE: Vascular endothelial growth factor-C and -D (VEGF-C, VEGF-D) are related to lymphangiogenesis. Papillary thyroid carcinoma is characterized by regional lymph node metastasis. This study was designed to determine the expression and significance of VEGF, VEGF-C, and VEGF-D in papillary thyroid carcinoma. METHODS: The expression of VEGF, VEGF-C, and VEGF-D in 115 specimens of papillary thyroid carcinoma and 20 specimens of nodular goiter were detected by SP immunohistochemistry. RESULTS: Positive rates of VEGF, VEGF-C, and VEGF-D were significantly higher in papillary thyroid carcinoma than in nodular goiter (79.1% vs. 30.0%, 87.0% vs. 15.0%, and 72.2% vs. 20.0%, P<0.01). The expression of VEGF was closely related to the size of papillary thyroid carcinoma. Positive rates of VEGF were 84.7% in lymph node positive group, and 73.2% in lymph node negative group. Positive rates of VEGF-C and VEGF-D were significantly higher in lymph node positive group than in lymph node negative group (93.2% vs. 80.4%, P<0.05; 83.1% vs. 60.7%, P<0.01). CONCLUSION: VEGF is closely related to tumor growth of papillary thyroid carcinoma; while VEGF-C and VEGF-D are closely related to lymph node metastasis of papillary thyroid carcinoma, and may be predictors of lymph node metastasis.