Noonan syndrome is characterised by typical facial features, short stature, CHDs, and other comorbidities, which are caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase pathway. Noonan syndrome is an inherited disease involving multiple systems, but ventricular arrhythmia in Noonan syndrome is rarely reported.

Here we report a 15-year-old patient with leucine zipperlike transcription regulator 1-associated Noonan syndrome, who has CHD (left ventricular hypertrophy with left ventricular outflow tract obstruction), ventricular arrhythmia, bundle branch block, pectus excavatum, costal eversion, scoliosis, myopia, growth retardation, hearing loss, chest tightness, and fatigue. Chest tightness and fatigue are the main reasons for admission of the patient. The patient was treated with spironolactone, empagliflozin, tolasemide, potassium chloride, and bisoprolol. One month after treatment, the patient has no more chest tightness or fatigue. Genetic testing revealed that the patient had a novel heterozygous variant c.313delT (p.trp105Glyfs * 42) mutation in the leucine zipperlike transcription regulator 1. We provide a review of the literature of leucine zipperlike transcription regulator 1 mutations and find that ventricular arrhythmias have been reported in leucine zipperlike transcription regulator 1-related Noonan syndrome.

Our findings expand on the Noonan syndrome phenotype and suggest that mutations in the leucine zipperlike transcription regulator 1 gene are involved in ventricular arrhythmia.

This study aims to systematically identify and summarize the key characteristics of Mini-Health Technology Assessment (Mini-HTA) and assess the completeness of its basic reporting information, providing a theoretical foundation for developing future reporting guidelines..

A comprehensive search for Mini-HTAs was performed using CNKI, Wanfang Data, VIP, CBM, PubMed, Embase, Web of Science, HTA database, and major HTA-related websites from inception until February 2024. The completeness of basic information reporting in Mini-HTAs was assessed using the INAHTA checklist. The key characteristics of the included Mini-HTAs were summarized descriptively. Microsoft Excel 2019 was used to analyze and visually present the data.

A total of 21 Mini-HTA reports were included, with the highest number published in 2021 (5 reports, 23.8 percent). China contributed the most reports (18 reports, 85.7 percent). The most common assessment purpose was technology comparison (15 reports, 71.4 percent), with general hospitals being the predominant assessment setting (17 reports, 80.9 percent), and drugs being the most frequently assessed technology type (14 reports, 66.7 percent). The INAHTA checklist evaluation identified notable deficiencies in reporting key methodological aspects, including participant roles, conflict of interest statements, data sources, literature search strategies, and methods for data assessment and analysis.

Mini-HTAs have significantly increased in China since 2020, mainly in technology comparison, drug evaluation, and general hospitals. However, gaps remain in reporting key aspects, such as participant roles, conflict of interest, and data sources. Future efforts should focus on refining reporting guidelines to improve consistency and address these reporting deficiencies in Mini-HTA.

With the increased prevalence of major depressive episodes with mixed features specifier (MDE-MFS), the pharmacological treatment for MDE-MFS has attracted great clinical attention. This study aimed to investigate the efficacy and safety of medication use for MDE-MFS.

Commonly used databases were searched for the meta-analysis. Primary efficacy outcomes included response rate and the change in the Young Mania Rating Scale scores; the primary safety outcome was the rate of treatment-emergent hypomania/mania. Effects were expressed as relative risk (RR) or standardized mean difference (SMD).

In patients with MDE-MFS, antipsychotics significantly improved depressive (RR = 1.46 [95% CI: 1.31, 1.61]) and manic (SMD = −0.35 [95% CI: −0.53, −0.17]) symptoms without increasing the risk of manic switch (RR = 0.91 [95% CI: 0.53, 1.55]). However, subgroup analysis of bipolar disorder (BD) patients with MDE-MFS indicated that antipsychotics had limited effects on manic symptoms. Mood stabilizers, especially valproate, demonstrated significant effects in BD patients with MDE-MFS by relieving depressive and manic symptoms. For MDE-MFS in patients with major depressive disorder, trazodone has shown potential effectiveness in retrospective studies, while the effectiveness of antidepressants on BD patients with MDE-MFS lacked evidence.

While antipsychotics are first options for MDE-MFS, their effect on manic symptoms in BD patients with MDE-MFS is still unclear. Mood stabilizers may also be considered, and the use of antidepressants remains a topic of controversy. Since our findings are mostly based on post-hoc analyses, the evidence remains preliminary, highlighting the need for further research to produce more conclusive evidence.

Antimicrobial resistance (AMR) is a global health crisis exacerbated by policies like China’s Volume-Based Procurement (VBP), which may inadvertently increase antimicrobial overuse. This study evaluates a clinical pharmacist-led Antimicrobial Stewardship (AMS) program with prospective audit for special-restricted antimicrobials under VBP.

A retrospective quasi-experimental interrupted time-series analysis compared pre-intervention (2022) and post-intervention (2023–2024) data at Tongji Hospital, a tertiary hospital in Wuhan, China. Key metrics included Antimicrobial Use Density (AUD), prescription rationality, antimicrobial costs, and multidrug-resistant infection rates.

The intervention significantly improved prescription appropriateness for special-restricted antimicrobials (80.24% vs. 93.83%, P < 0.005) and reduced AUD (47.87 vs. 34.25, P < 0.001). Total antimicrobial costs decreased by 41.26%, with a reduction in the incidence of multidrug-resistant infections from 0.084% to 0.062% (P < 0.05). Carbapenem use correlated with CRKP isolation rates (R = 0.62, P < 0.05). Clinical pharmacists rejected 10.24% of prescriptions, all accepted by physicians.

Pharmacist-led prospective audits optimize antimicrobial use under VBP, mitigate resistance risks, and reduce costs, while acknowledging that concurrent infection control measures may have contributed to these trends. This model may inform similar interventions in other institutions, particularly those in resource-limited settings.

Non-suicidal self-injury (NSSI) is associated with mental disorders, yet work regarding the direction of this association is inconsistent. We examined the prevalence, comorbidity, time–order associations with mental disorders, and sex differences in sporadic and repetitive NSSI among emerging adults.

We used survey data from n = 72,288 first-year college students as part of the World Mental Health-International College Student Survey Initiative (WMH-ICS) to explore time–order associations between onset of NSSI and mental disorders, based on retrospective age-of-onset reports using discrete-time survival models. We distinguished between sporadic (1–5 lifetime episodes) and repetitive (≥6 lifetime episodes) NSSI in relation to DSM-5 mood, anxiety, and externalizing disorders.

We estimated a lifetime NSSI rate of 24.5%, with approximately half reporting sporadic NSSI and half repetitive NSSI. The time–order associations between onset of NSSI and mental disorders were bidirectional, but mental disorders were stronger predictors of the onset of NSSI (median RR = 1.94) than vice versa (median RR = 1.58). These associations were stronger among individuals engaging in repetitive rather than sporadic NSSI. While associations between NSSI and mental disorders generally did not differ by sex, repetitive NSSI was a stronger predictor for the onset of subsequent substance use disorders among females compared to males. Most mental disorders marginally increased the risk for persistent repetitive NSSI (median RR = 1.23).

Our findings offer unique insights into the temporal order between NSSI and mental disorders. Further work exploring the mechanism underlying these associations will pave the way for early identification and intervention of both NSSI and mental disorders.

This study aimed to explore clinical characteristics and treatment efficacy in patients with posterior canal benign paroxysmal positional vertigo and different sleep qualities.

Patients with posterior canal benign paroxysmal positional vertigo were divided into high and low sleep quality groups based on Pittsburgh Sleep Quality Index scores.

No significant baseline differences existed between low (n = 53) and high (n = 39) sleep quality groups. However, the proportion of cupulolithiasis was higher in the low sleep quality group (60.38 per cent vs. 35.90 per cent; p < 0.05). Additionally, the low sleep quality group had a longer median duration of upbeat nystagmus during the Dix-Hallpike test (63.50 seconds vs. 26.80 seconds; p < 0.05) and a lower cured rate in initial repositioning (9.43 per cent vs. 56.41 per cent) compared to high sleep quality group. Repositioning therapy significantly improved depressive and anxiety symptoms in all patients with posterior canal benign paroxysmal positional vertigo, with a more pronounced improvement in depressive symptoms in the low sleep quality group.

Poor sleep quality is associated with higher cupulolithiasis prevalence and treatment resistance, with residual symptoms mainly affecting social functioning.

This study investigates structural abnormalities in hippocampal subfield volumes and shapes, and their association with plasma CC chemokines in individuals with major depressive disorder (MDD).

A total of 61 patients with MDD and 65 healthy controls (HC) were recruited. All participants underwent high-resolution T1-weighted imaging and provided blood samples for the detection of CC chemokines (CCL2, CCL7, and CCL11). Comparisons of hippocampal subregion volumes, surface shapes, and plasma CC chemokine concentrations were conducted between the MDD and HC groups. Furthermore, partial correlation analysis was performed to assess the relationship between structural abnormalities (hippocampal subfield volume and shape) and plasma CC chemokine levels.

The MDD group exhibited a significant reduction in the volume of the left hippocampal tail compared to the HC group (F = 9.750, Bonferroni-corrected p = 0.026). No significant outward or inward deformation of the hippocampus was detected in MDD patients relative to the HC group (all FWE-corrected p > 0.05). Additionally, plasma CCL11 levels were elevated in the MDD group compared to the HC group (F = 9.982, p = 0.002), with these levels showing a positive correlation with the duration of the illness (r = 0.279, p = 0.029). Partial correlation analysis further revealed a negative correlation between the smaller left hippocampal tail volume and plasma CCL11 levels in MDD patients (r = −0.416, p = 0.001).

Abnormally elevated plasma CCL11 in MDD patients may mediate damage to specific hippocampal substructures.

Studies highlight the thalamus as a key region distinguishing early- from late-onset obsessive-compulsive disorder (OCD). While structural thalamic correlates with OCD onset age are well-studied, resting-state functional connectivity (rsFC) remains largely unexplored. This study examines thalamic subregional rsFC to elucidate pathophysiological differences in OCD based on different onset times.

The study comprised 85 early-onset OCD (EO-OCD) patients, 94 late-onset OCD (LO-OCD) patients, and 94 age- and sex-matched healthy controls (HCs). rsFC analysis was conducted to assess thalamic connectivity across seven subdivisions among the groups.

Both EO-OCD and LO-OCD patients exhibited increased rsFC between the primary motor thalamus and the posterior central gyrus and between the thalamic premotor and the supplementary motor areas. EO-OCD patients showed significantly stronger rsFC between the prefrontal thalamus (Ptha) and the middle frontal gyrus (MFG) compared to both LO-OCD patients and HCs. In contrast, LO-OCD patients demonstrated reduced rsFC between the Ptha and the inferior parietal lobule (IPL) compared to EO-OCD patients and HCs. Additionally, the rsFC between the Ptha and both the MFG and IPL was negatively correlated with age of onset, with earlier onset linked to stronger connectivity.

These findings reveal both shared and distinct thalamic connectivity patterns in EO-OCD and LO-OCD patients. Sensory-motor networks exhibiting thalamic hyperconnectivity are critical for the manifestation of OCD, regardless of age of onset. The frontal–parietal network and thalamic hyperconnectivity may present a compensatory mechanism in EO-OCD patients, while hypoconnectivity with the frontoparietal network may reflect a neural mechanism underlying LO-OCD.

Electronic Health Record (EHR) data are critical for advancing translational research and AI technologies. The ENACT network offers access to structured EHR data across 57 CTSA hubs. However, substantial information is contained in clinical narratives, requiring natural language processing (NLP) for research. The ENACT NLP Working Group was formed to make NLP-derived clinical information accessible and queryable across the network.

We established the ENACT NLP Working Group with 13 sites selected based on criteria including clinical notes access, IT infrastructure, NLP expertise, and institutional support. We divided sites into five focus groups targeting clinical tasks within disease contexts. Each focus group consisted of two development sites and two validation sites. We extended the ENACT ontology to standardize NLP-derived data and conducted multisite evaluations using the Open Health Natural Language Processing (OHNLP) Toolkit.

The working group achieved 100% site retention and deployed NLP infrastructure across all sites. We developed and validated NLP algorithms for rare disease phenotyping, social determinants of health, opioid use disorder, sleep phenotyping, and delirium phenotyping. Performance varied across sites (F1 scores 0.53–0.96), highlighting data heterogeneity impacts. We extended the ENACT common data model and ontology to incorporate NLP-derived data while maintaining Shared Health Research Informatics NEtwork (SHRINE) compatibility.

This demonstrates feasibility of deploying NLP infrastructure across large, federated networks. The focus group approach proved more practical than general-purpose approaches. Key lessons include the challenge of data heterogeneity and importance of collaborative governance. This work also provides a foundation that other networks can build on to implement NLP capabilities for translational research.

Social determinants of health (SDHs) exert a significant influence on various health outcomes and disparities. This study aimed to explore the associations between combined SDHs and mortality, as well as adverse health outcomes among adults with depression.

The research included 48,897 participants with depression from the UK Biobank and 7,771 from the US National Health and Nutrition Examination Survey (NHANES). By calculating combined SDH scores based on 14 SDHs in the UK Biobank and 9 in the US NHANES, participants were categorized into favourable, medium and unfavourable SDH groups through tertiles. Cox regression models were used to evaluate the impact of combined SDHs on mortality (all-cause, cardiovascular disease [CVD] and cancer) in both cohorts, as well as incidences of CVD, cancer and dementia in the UK Biobank.

In the fully adjusted models, compared to the favourable SDH group, the hazard ratios for all-cause mortality were 1.81 (95% CI: 1.60–2.04) in the unfavourable SDH group in the UK Biobank cohort; 1.61 (95% CI: 1.31–1.98) in the medium SDH group and 2.19 (95% CI: 1.78–2.68) in the unfavourable SDH group in the US NHANES cohort. Moreover, higher levels of unfavourable SDHs were associated with increased mortality risk from CVD and cancer. Regarding disease incidence, they were significantly linked to higher incidences of CVD and dementia but not cancer in the UK Biobank.

Combined unfavourable SDHs were associated with elevated risks of mortality and adverse health outcomes among adults with depression, which suggested that assessing the combined impact of SDHs could serve as a key strategy in preventing and managing depression, ultimately helping to reduce the burden of disease.

Depression and anxiety are prevalent mental health disorders. While sleep duration has been extensively studied, sleep regularity may play a critical role. We aimed to examine associations between objectively measured sleep regularity and incident depression and anxiety and to investigate whether meeting recommended sleep duration modifies these associations.

In 79,666 UK Biobank participants without baseline depression or anxiety, wrist accelerometers worn for 7 days yielded a sleep regularity index (SRI) and average sleep duration. SRI was categorized as irregular (≤51), moderately irregular (52–70), or regular (≥71). Sleep duration was classified by age-specific recommendations (7–9 hours for ages 18–64 years; 7–8 hours for over 65 years). Cox regression models assessed associations between sleep parameters and mental health outcomes.

During a median follow-up of 7.5 years, 1,646 participants developed depression, and 2,097 developed anxiety. Compared to irregular sleepers, regular sleepers had a 38% lower depression risk (hazard ratio [HR], 0.62; 95% confidence interval [CI], 0.52–0.73) and a 33% lower anxiety risk (HR, 0.67; 95%CI, 0.58–0.77). Participants with both irregular sleep and nonrecommended duration exhibited the highest risks (depression HR, 1.91; 95%CI, 1.55–2.35; anxiety HR, 1.61; 95%CI, 1.35–1.93). Notably, irregular sleepers who met duration guidelines still faced elevated risks (depression HR, 1.48; 95%CI, 1.18–1.86; anxiety HR, 1.35; 95%CI, 1.11–1.64).

Greater sleep regularity is independently associated with lower depression and anxiety risk regardless of sleep duration, suggesting that sleep–wake consistency should be considered in mental health promotion strategies alongside traditional sleep duration recommendations.