Tag: pubmed

JAMA Netw Open. 2025 Mar 3;8(3):e251807. doi: 10.1001/jamanetworkopen.2025.1807.

ABSTRACT

IMPORTANCE: Copy number variants (CNVs) and single-nucleotide variations (SNVs) or insertions and deletions are key genetic contributors to neurodevelopmental disorders (NDDs). Traditionally, chromosome microarray and exome sequencing (ES) have been used to detect CNVs and single gene variants, respectively.

OBJECTIVE: To identify genetic variants causing NDDs and evaluate the diagnostic yield and clinical utility of ES by simultaneously analyzing CNVs and SNVs in patients with NDDs and their biologic parents (trios).

DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study included pediatric patients with suspected NDDs who visited Shanghai Children’s Hospital between January 1, 2018, and December 31, 2023. ES was used to investigate trios (trio-ES) including patients with NDDs who remained undiagnosed after phenotype identification and underwent gene panel testing, multiplex ligation-dependent probe amplification, or karyotyping. Comprehensive clinical and laboratory data were collected. Data were analyzed from July 2022 to December 2023.

EXPOSURE: NDDs, characterized by global developmental delay or intellectual disability.

MAIN OUTCOMES AND MEASURES: The study measured the overall diagnostic yield of SNVs and CNVs in the NDD cohort as well as within NDD syndromic subtypes.

RESULTS: Of the 1106 patients with NDDs, 731 (66.1%) were male. The mean (SD) age of patients at diagnosis was 3.80 (2.82) years. The overall diagnostic yield of trio-ES was 46.1% (510 diagnoses among 1106 patients), with 149 CNVs (13.5%), 355 SNVs (32.1%), and 4 cases of uniparental disomy (0.4%). Codiagnosis of SNVs and CNVs occurred in 2 cases (0.2%). Among the trios, 812 candidate germline variants were identified, including 634 SNVs (78.1%), 174 CNVs (21.4%), and 4 cases of uniparental disomy (0.5%). Of these, 423 SNVs (66.7%) and 157 CNVs (90.2%) were diagnostic variants, while 211 SNVs (33.3%) and 17 CNVs (9.8%) were variants of uncertain significance. Sixteen CNVs smaller than 20 kilobase were detected using ES.

CONCLUSIONS AND RELEVANCE: In this cohort study, trio-ES, by simultaneously detecting SNVs and CNVs, achieved a diagnostic yield of 46.1%. Trio-ES may be particularly applicable for identifying small CNVs and recessive genetic diseases involving both SNVs and CNVs. These findings suggest that in clinical practice, simultaneously analyzing SNVs and CNVs using trio-ES data has a favorable genetic diagnostic yield for children with NDDs.

PMID:40131272 | DOI:10.1001/jamanetworkopen.2025.1807

JAMA Netw Open. 2025 Mar 3;8(3):e251821. doi: 10.1001/jamanetworkopen.2025.1821.

ABSTRACT

IMPORTANCE: Neonates requiring intensive care are at high risk of health care-associated infections. In neonatal intensive care units (NICUs) in low-resource settings, the identification of modifiable risk factors can inform targeted prevention strategies to reduce the global burden of neonatal morbidity and mortality.

OBJECTIVE: To describe the incidence of and the risk factors associated with health care-associated bloodstream infections (BSIs) in NICUs in Pune, India.

DESIGN, SETTING, AND PARTICIPANTS: This multicenter prospective cohort study enrolled all neonates admitted to 3 NICUs in Pune, India, from May 1, 2017, to July 31, 2019. Neonates were followed up from admission until discharge, transfer, or death. This secondary data analysis included neonates admitted for 3 days or more and was completed on January 31, 2024.

MAIN OUTCOMES AND MEASURES: The primary outcome was health care-associated BSIs, defined as a positive blood culture on or after admission day 3. Summary statistics, incidence of health care-associated BSIs, and hazard rate by characteristics of interest were generated. Among neonates admitted for 7 days or longer, the association between antibiotic exposure and infection risk was assessed.

RESULTS: A total of 6410 neonates were admitted for 3 days or longer. The median gestational age was 34 weeks (IQR, 32-37 weeks), and 3560 (55.5%) were male. The incidence of health care-associated BSIs was 6.09 per 1000 patient-days. Most isolates were gram-negative organisms (n = 273 [66.3%]), of which 85.5% (202 of 236 isolates tested) were resistant to third- or fourth-generation cephalosporins and 44.8% (117 of 261 isolates tested) were resistant to carbapenems. The hazard rate of health care-associated BSIs was higher among neonates with central venous catheters, respiratory support, or urinary catheters within 3 days preceding infection. Of 3229 neonates admitted for 7 days or longer, 190 (5.8%) had health care-associated BSIs on or after hospital day 7, with an incidence of 3.22 per 1000 patient-days. Antibiotic exposure during the first week of admission was associated with a nearly 3-fold increase in the risk of health care-associated BSIs (adjusted hazard ratio, 2.82 [95% CI, 1.26-6.32]).

CONCLUSIONS AND RELEVANCE: In this cohort study of 6410 neonates admitted to 3 NICUs in Pune, India, the risk of health care-associated BSIs was associated with the presence of indwelling devices and prior antibiotic exposure. Future efforts should focus on mitigating the risks associated with indwelling devices and strengthening infection prevention and control and antimicrobial stewardship programs to prevent health care-associated infections.

PMID:40131271 | DOI:10.1001/jamanetworkopen.2025.1821

J Perianesth Nurs. 2025 Mar 25:S1089-9472(24)00559-8. doi: 10.1016/j.jopan.2024.11.015. Online ahead of print.

ABSTRACT

PURPOSE: This study was conducted to determine the methods used to evaluate and prevent preoperative deep vein thrombosis (DVT) risk in urological surgery patients.

DESIGN: A descriptive and cross-sectional study.

METHODS: The study population consisted of patients treated at the urology clinic of a university hospital in the Mediterranean region between February 2024 and June 2024. The sample consisted of 120 patients who met the inclusion criteria. The data of the study were collected using the Personal Information Form, Autar DVT Risk Diagnosis Scale and Patient Follow-up Form. In addition to linear regression analysis, descriptive statistics were also used to analyze the data.

FINDINGS: According to the Autar DVT risk diagnostic scores of the patients participating in the study, 82.5% were in the low-risk group, 15.8% were in the intermediate-risk group, and 1.7% were in the high-risk group. Additionally, the study determined that sex, body mass index, and age significantly predicted the risk of DVT (P < .05).

CONCLUSIONS: As a result of the study, it is noteworthy that although the risk of DVT is low in the majority of urological surgery patients, there are also patients at medium and high risk. In line with these results, more effective strategies should be developed, accompanied by guidelines, in evaluating and preventing DVT risk in clinical practice.

PMID:40131255 | DOI:10.1016/j.jopan.2024.11.015

Afr J Reprod Health. 2025 Mar 25;29(3):76-84. doi: 10.29063/ajrh2025/v29i3.10.

ABSTRACT

For both individual and community health, women’s health is vital. In particular, gynecological cancers can be prevented or treated by adopting healthy lifestyles, raising awareness, and detecting them early. This study aimed to identify levels of gynecological cancer awareness and healthy lifestyle behaviors among women aged 20-65 years. There were 251 women in the descriptive cross sectional study. The Gynecological Cancers Awareness Scale (GCAS), the Descriptive Characteristics Form, and the Healthy Lifestyle Behavior Scale-II (HLBS-II) were used to gather data. The data was analyzed using the Pearson’s correlation test, multiple linear regression, and descriptive statistics. The average HLBS-II score was 123.53±20.75, while the average GCAS score was 149.64±21.30. The HLBS-II and GCAS scores showed a statistically significant positive correlation. Women knowledgeable about early diagnosis methods scored 10.758 times higher on the GCAS, while women familiar with vulvar self-examination scored 11.016 times higher. Employed women had a mean HLBS-II score 6.124 times higher than non-employed women (p<0.05). Women’s awareness of gynecological cancer was high, but they also had moderately good lifestyle choices. To raise awareness and promote healthy lifestyle choices, healthcare professionals are advised to take part in health-promoting initiatives.

PMID:40131246 | DOI:10.29063/ajrh2025/v29i3.10

Expert Rev Neurother. 2025 Mar 25. doi: 10.1080/14737175.2025.2484439. Online ahead of print.

ABSTRACT

INTRODUCTION: Cenobamate (CNB) is an anti-seizure medication (ASM)utilized for drug-resistant focal-onset seizures, which are difficult to managewith usual agents. Previous studies demonstrated that it can be effective inpatients with refractory epilepsy.

METHODS: The MEDLINE, Cochrane, and Scopus databases weresystematically searched up to 24 October 2024. A Random-effects model wasemployed to compute the Mean Difference (MD) and the Risk Ratio (RR) with 95%Confidence Intervals (CI). Statistical Analyses were performed utilizingRStudio 4.4.2.

RESULTS: Four studies were included, comprising 906 patients; 527(59%) received CNB as add-on therapy. The results indicated that the 50%responder rate (RR 1.77; 95% CI: 1.28 to 2.44, p = 0.000551, I² = 70.3%) andseizure freedom (RR of 3.09; 95% CI: 1.91 to 5.00, p = 0.000004, I² = 8.7%)were significantly higher in this group.

CONCLUSIONS: In this meta-analysis of four studies, CNB as an add-ontherapy significantly reduced seizure frequency in patients with uncontrolledfocal seizures, making it a promising option for improved seizure control andquality of life.

PMID:40131227 | DOI:10.1080/14737175.2025.2484439

J Chem Theory Comput. 2025 Mar 25. doi: 10.1021/acs.jctc.4c01747. Online ahead of print.

ABSTRACT

Physics-informed neural networks (PINN) is a machine learning (ML)-based method to solve partial differential equations that has gained great popularity due to the fast development of ML libraries in the past few years. The Poisson-Boltzmann equation (PBE) is widely used to model mean-field electrostatics in molecular systems, and in this work we present a detailed investigation of the use of PINN to solve the linear PBE. Starting from a multidomain PINN for the linear PBE with an interface, we assess the importance of incorporating different features into the neural network architecture. Our findings indicate that the most accurate architecture utilizes input and output scaling layers, a random Fourier features layer, trainable activation functions, and a loss balancing algorithm. The accuracy of our implementation is on the order of 10^-2-10^-3, which is similar to previous work using PINN to solve other differential equations. We also explore the possibility of incorporating experimental information into the model, and discuss challenges and future work, especially regarding the nonlinear PBE. We are providing an open-source implementation to easily perform computations from a PDB file. We hope this work will motivate application scientists into using PINN to study molecular electrostatics, as ML technology continues to evolve at a high pace.

PMID:40131176 | DOI:10.1021/acs.jctc.4c01747

JACC Basic Transl Sci. 2025 Feb;10(2):152-166. doi: 10.1016/j.jacbts.2024.10.002. Epub 2024 Dec 4.

ABSTRACT

There is an unmet medical need to treat patients with severe hypertrophic cardiomyopathy leading to heart failure and death in children carrying pathogenic activating variants in the RAS/mitogen-activated protein kinase pathway. A retrospective analysis of 61 patients provides evidence for decreased mortality and morbidity with improved cardiac status in patients with RASopathy with severe hypertrophic cardiomyopathy receiving mitogen-activated protein kinase kinase inhibition (n = 30) vs those with standard-of-care treatment (n = 31). Side effects were not life threatening and were manageable. The data presented suggest that personalized therapies targeting underlying signaling pathway abnormalities might be effective in critically ill patients with RASopathy warranting clinical investigation.

PMID:40131150 | DOI:10.1016/j.jacbts.2024.10.002

Afr J Reprod Health. 2025 Mar 25;29(3):58-67. doi: 10.29063/ajrh2025/v29i3.8.

ABSTRACT

Available evidence indicate that Intrauterine Insemination (IUI) cycles with controlled ovarian stimulation (COS) yield better oocyte quality and higher pregnancy rates compared to those without COS in infertile women. As follitropin delta is an improved version of recombinant FSH, its ability to stimulate the development of multiple ovarian follicles is supposedly superior to follitropin alfa. The objective of this study was to evaluate the efficacy and safety of follitropin delta with a simplified dosage equivalent method in Indonesian women undergoing IUI. The design of this study was a retrospective observational study conducted from February 2022 to December 2023 involving 248 IUI cycles at Halim Fertility Center (HFC) IVF Center, Indonesia. Controlled Ovarian Stimulation was performed with follitropin delta with a simplified dosage equivalent method in IUI. From this study, we found that the clinical pregnancy rate (CPR) for IUI was 27.8%. The Ovarian Hyperstimulation Syndrome (OHSS) rates was 0.4%, with 2,9% multiple pregnancies in the follitropin delta with a simplified dosage equivalent method. This study showed no statistically significant differences in pregnancy rates based on age groups and BMI (p=0.288 vs p=0.934). WE conclude that follitropin delta may improve the outcome of intrauterine insemination in women undergoing IUI.

PMID:40131147 | DOI:10.29063/ajrh2025/v29i3.8

Altern Ther Health Med. 2025 Mar 26:AT11564. Online ahead of print.

ABSTRACT

BACKGROUND: Although several studies have explored the effects of various caffeine dosages on balance, the impact of low-dose caffeine intake from Turkish coffee on postural control and hand-eye coordination remains unclear.

OBJECTIVE: This study aimed to evaluate the immediate effects of Turkish coffee (60 mg/65 mL) on postural control and hand-eye coordination.

DESIGN: This study was a quasi-experimental research with a one-group pretest-posttest design.

SETTING: Cardiac Physiotherapy and Rehabilitation Research Laboratory.

PARTICIPANTS: The study recruited 20 healthy young adults (13 females, 7 males) who were low habitual coffee consumers.

INTERVENTION: The participants were given 65 mL of Turkish coffee for oral caffeine intake.

OUTCOME MEASURES: Postural control was assessed using the Biodex Balance System, and hand-eye coordination was evaluated with the Alternate Hand-Wall Toss Test, before and after 30 minutes following coffee ingestion.

RESULTS: The ‘eyes open firm surface’ condition of the Modified Clinical Test of Sensory Interaction in Balance (P = .006) and the Alternate Hand-Wall Toss Test (P = .002) scores showed a statistically significant difference between the first and second measurements. No significant differences were observed in the postural stability and limits of stability parameters measured by the Biodex Balance System (P > .05). However, male participants exhibited better hand-eye coordination on the Alternate Hand-Wall Toss Test upon caffeine intake (P = .017).

CONCLUSIONS: This study is likely the first to evaluate the acute effects of a cup of Turkish coffee (60 mg caffeine/65 mL) on postural control and hand-eye coordination. While no changes were found in balance conditions, improvement in postural sway on the firm surface with eyes open was noted. A significant improvement in hand-eye coordination was observed, warranting further research with objective tools.

PMID:40131142

Am J Hypertens. 2025 Mar 23:hpaf040. doi: 10.1093/ajh/hpaf040. Online ahead of print.

ABSTRACT

BACKGROUND: Among the 119.9 million U.S. adults with hypertension, an estimated 92.9 million have systolic blood pressure ≥ 130 mm Hg or diastolic blood pressure ≥ 80 mm Hg. Million Hearts® is an initiative co-led since 2011 by the Centers for Disease Control and Prevention (CDC) and the Centers for Medicare and Medicaid Services (CMS). The program drives improvement in hypertension control by celebrating high-achieving clinicians, practices, and health systems each year as Million Hearts Hypertension Control Champions. Champions have validated control rates of 80% or higher.

METHODS: Using data from each Champion, we summarized their key characteristics and quantified their use of various evidence-based strategies. We calculated summary statistics for application data provided by Champions based on the initiative’s five-year cycles of operation (2012-2015; 2017-2020; 2022-2024).

RESULTS: From 2012 to 2024, a total of 199 Hypertension Control Champions from 44 states were recognized; mean prevalence of systolic blood pressure < 140 mm Hg and diastolic blood pressure < 90 mm Hg was 82%. Overall, Champions reported using multiple evidence-based strategies to help their patients achieve hypertension control. The top 3 strategies were electronic medical record (EMR) usage, patient supports including self-measured blood pressure monitoring (SMBP), and team-based care.

CONCLUSIONS: The Million Hearts® Hypertension Control Champions demonstrate that hypertension control may be achievable among patients across diverse settings by implementation of evidence-based approaches.

PMID:40130431 | DOI:10.1093/ajh/hpaf040