A case report of SPONASTRIME dysplasia with novel TONSL mutation: genetic analysis, clinical manifestations, and the effect of growth hormone treatment.

SPONASTRIME dysplasia is a rare genetic disorder characterized by short stature, facial abnormalities, vertebral issues, and bone striations, caused by recessive mutations in the TONSL gene. We reported a 6-year-old boy with characteristic clinical features of SPONASTRIME dysplasia, accompanied by neutropenia. Genetic analysis revealed biallelic variants in TONSL: mother-inherited c.

Identifying bipolar disorder and predicting its therapeutic response of cognitive impairment.

Background: Cognitive impairment has become a core feature of bipolar disorder (BD). However, the neurobiological mechanisms underlying BD and its cognitive deficits are still unclear. This study aims to explore potential biological mechanisms of BD cognitive impairment.

Influence of psychological care on anxiety and depression in older adult patients with coronary heart disease complicated by arrhythmia.

Background: Coronary heart disease (CHD) has shown a consistent upward trend in global incidence in recent years. Notably, older adults with CHD complicated by arrhythmia exhibit significantly higher susceptibility to psychological distress compared with the general CHD population. This increased vulnerability has garnered growing clinical and research interest in the potential therapeutic benefits of structured psychological interventions for alleviating comorbid depressive and anxiety symptoms in this high-risk demographic.

[Regional Differences and Spatial-temporal Heterogeneity Influencing Factors of Carbon Neutrality Capacity in China].

Carbon neutrality is an important strategy for China to cope with the present climate change， and it is also the main task and goal in future economic and social development. This study uses the carbon source and carbon sink estimation model to calculate the carbon neutral capacity （CNC） of 30 provinces in China from 2003 to 2021. Furthermore， this study investigates the regional differences of CNC in China by using the Dagum Gini coefficient， and applies the STIRPAT-GTWR model to reveal the influencing factors of spatial-temporal heterogeneity.

Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review.

Background: Zaki syndrome is an autosomal recessive disorder caused by pathogenic variants in the WLS gene, which is essential for Wnt signaling. Altered Wnt signaling disrupts fetal development, organ formation, and tissue regeneration, leading to bone abnormalities and distinctive facial features. Key clinical characteristics of Zaki syndrome include specific facial features, microcephaly, skeletal anomalies, and eye malformations.

High allostatic status impairs cognitive function in patients with first-episode drug-naive bipolar disorder.

Objective: Patients with bipolar disorder (BD) are often experience cognitive impairment. Allostatic load (AL) represents the cumulative physiological burden on the body resulting from prolonged or chronic stress, which plays a key role in the pathophysiology of BD. This study aimed to investigate the relationship between AL and cognitive function in first-diagnosed, drug-naïve BD patients.

Aerobic Exercise Alleviates Cardiac Dysfunction Correlated with Lipidomics and Mitochondrial Quality Control.

Cardiac adaptations induced by aerobic exercise have been shown to reduce the risk of cardiovascular disease, and the autonomic nervous system is closely associated with the development of cardiovascular disease. Aerobic exercise intervention has been shown to enhance cardiac function and mitigate myocardial fibrosis and hypertrophy in heart failure mice. Further insights reveal that cardiomyocytes experiencing chronic heart failure undergo modifications in their lipidomic profile, including remodeling of multiple myocardial membrane phospholipids.

Correlations of gene polymorphisms of angiotensin-converting enzyme 2 with onset and prognosis of hypertrophic cardiomyopathy.

Background: To investigate the correlations of the gene polymorphisms of angiotensin-converting enzyme 2 (ACE2) with the onset and prognosis of hypertrophic cardiomyopathy (HCM), so as to provide references for the early prevention and precise treatment of HCM in the future.

Methods: In this case-control study, a total of 100 HCM patients (HCM group) and 100 healthy people receiving physical examination who had matched age, gender and race (Control group) were collected. The single nucleotide polymorphisms (rs102312, rs102883 and rs119247) in the promoter region of ACE2 gene were genotyped by means of conformation-difference gel electrophoresis.

Prepregnancy Obesity Reprograms Offspring Skeletal Muscle Fibre Transition Through H3K9me3.

Background: Maternal prepregnancy obesity predisposes offspring to obesity and metabolic disorders, yet its impact on skeletal muscle fibre transition remains unclear. Given that skeletal muscle plays a crucial role in systemic metabolism, we investigated how maternal prepregnancy high-fat diet (HFD) influences muscle fibre composition and metabolic function in offspring.

Methods: We established mouse models with a prepregnancy chow diet (CD) and a prepregnancy high-fat diet (HFD) for 8 weeks to compare metabolic phenotypes in offspring.

Bioenergetic biomarkers as predictive indicators and their relationship with cognitive function in newly diagnosed, drug-naïve patients with bipolar disorder.

Mitochondrial dysfunction and disrupted bioenergetic processes are critical in the pathogenesis of bipolar disorder (BD), with cognitive impairment being a prominent symptom linked to mitochondrial anomalies. The tricarboxylic acid (TCA) cycle, integral to mitochondrial energy production, may be implicated in this cognitive dysfunction, yet its specific association with BD remains underexplored. In this cross-sectional study, 144 first-episode, drug-naive BD patients and 51 healthy controls were assessed.

Fucosylated Glycosaminoglycan Oligosaccharide HS14, Derived from Sea Cucumbers, Is a Novel Inhibitor of Platelet Toll-like Receptor 2.

(1) Background: Toll-like receptor 2 (TLR2) on platelets is increasingly recognized as a pivotal mediator in infection-induced platelet activation and aggregation, contributing to both inflammatory and thrombotic diseases. Targeting TLR2 on platelets offers a promising therapeutic strategy for inflammatory and thrombotic-related disorders. However, inhibitors targeting platelet TLR2 have not yet been reported.

Molecular Mechanism of Aerobic Exercise Ameliorating Myocardial Mitochondrial Injury in Mice with Heart Failure.

To explore the molecular mechanism of aerobic exercise to improve heart failure and to provide a theoretical basis and experimental reference for the treatment of heart failure. Nine-week-old male mice were used to establish a left ventricular pressure overload-induced heart failure model by transverse aortic constriction (TAC). The mice were randomly divided into four groups: a sham group (SHAM), heart failure group (HF), heart failure + SKQ1 group (HS) and heart failure + aerobic exercise group (HE).

Oligosaccharide-assisted resolution of holothurian fucosylated chondroitin sulfate for fine structure and P-selectin inhibition.

Fucosylated chondroitin sulfate (FCS) from Holothuria mexicana (FCS) was selected for investigation because of its intriguing branch features. Selective β-eliminative depolymerization and the bottom-up assembly were performed to unravel that FCS consisted of a {D-GlcA-β1,3-D-GalNAc} backbone and branches of alternating Fuc (55 %) and D-GalNAc-α1,2-L-Fuc (45 %), the highest proportion of disaccharide branch reported to date. In branches, sulfation could occur at every free -OH site except O-3 of GalNAc, being the most complex and various structure features of natural FCS.

Exploring the gut microbiota and metabolome of Lateolabrax japonicus: A multi-omics approach.

The intestinal microbiota plays a crucial role in the health and development of fish, engaging in intricate interactions with the host organism. As a significant species in aquaculture, Lateolabrax japonicus serves as an exemplary model for investigating these interactions and their subsequent effects on growth and health. This study utilized a multi-omics approach, incorporating metagenomic sequencing and non-targeted metabolomics, to delineate the gut microbiota and metabolome of L.

MdMYB54 reduces disease severity caused by Fusarium solani in apple by modulating cell wall cellulose and pectate lyase-dependent defense.

The plant cell wall is the first barrier against pathogen invasion. Fusarium solani is the primary pathogen responsible for apple replant disease. In this study, we identified an MYB protein, MdMYB54, which interacts with the positive regulator of F.

MdHY5 positively regulates cold tolerance in apple by integrating the auxin and abscisic acid pathways.

Low-temperature stress causes various types of physiological and biochemical damage to plants. The basic leucine zipper (bZIP) family transcription factor HY5 plays a significant role in multiple stress responses in plants. Here, cold stress was found to induce the upregulation of MdHY5 expression, which, in turn, positively regulates the cold tolerance of apple (Malus domestica).

Effectiveness of multidisciplinary interventions to improve blood culture efficiency and optimize antimicrobial utilization.

Background: The low positive rate of blood cultures often leads to downstream consequences. We present a summary of multidisciplinary interventions implemented by a tertiary referral hospital to improve blood culture efficiency and optimize antimicrobial usage.

Methods: We evaluated the knowledge, attitude, and practice (KAP) of healthcare workers in a tertiary care hospital before and after intervention using a questionnaire.

Differences in cognitive impairment and its correlation with circulating cell-free mitochondrial DNA in medication-free depression and bipolar depression patients.

Objective: This study aimed to investigate whether there are differences in cognitive impairment between medication-free patients with bipolar depression (BD) and major depressive disorder (MDD) and whether these differences are related to circulating cell-free mtDNA (ccf-mtDNA).

Methods: For this cross-sectional study, 76 outpatients with BD, 86 outpatients with MDD and 70 healthy controls (HCs) were enrolled. Sociodemographic and clinical data were collected.

Dopamine Regulates Its Own Synthesis via MdORG2 to Improve Low-Nitrogen Tolerance in Apple Plants.

Nitrogen (N) is crucial for plant growth and development. Exogenous dopamine has been shown to improve the N-deficiency tolerance of apple. However, the potential regulatory mechanisms by which dopamine mitigates low-N stress remain unclear.

The epigenetic mechanism of metabolic risk in bipolar disorder.

Bipolar disorder (BD) is a complex and severe mental illness that causes significant suffering to patients. In addition to the burden of depressive and manic symptoms, patients with BD are at an increased risk for metabolic syndrome (MetS). MetS includes factors associated with an increased risk of atherosclerotic cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM), which may increase the mortality rate of patients with BD.

Severe community‑acquired pneumonia caused by in combination with influenza A subtype (H1N1) virus in an immunocompetent patient detected by metagenomic next‑generation sequencing: A case report.

Legionella pneumonia is an atypical form of pneumonia caused by that can also lead to multiple organ diseases, including acute respiratory distress syndrome and multiple organ dysfunction syndrome. requires a long incubation period for culture in clinical practice using BCYE medium. The specificity of serum for serological detection is low, resulting in a relatively high rate of missed diagnoses.

Diagnosis with Metagenomic Next-Generation Sequencing (mNGS) technology and real-time PCR for SARS-CoV-2 Omicron detection using various nasopharyngeal swabs in SARS-CoV-2 Omicron.

Background: The SARS-CoV-2 Omicron variant, with the main subtypes BA.5.2 and BF.