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Eight-year follow-up of phenotypic progression in a Chinese XLRP pedigree with a novel RP2 gene mutation

Front Genet. 2026 May 25;17:1783270. doi: 10.3389/fgene.2026.1783270. eCollection 2026.

ABSTRACT

BACKGROUND: This study characterizes a Chinese X-linked retinitis pigmentosa (XLRP) pedigree harboring a pathogenic variant of the RP2 gene and presents the findings from 8-years follow-up with the aim of exploring the genotypic and phenotypic spectra.

METHODS: We collected data from a Chinese pedigree comprising 23 individuals, including six affected males and five female carriers; all individuals underwent molecular analyses and comprehensive ophthalmic evaluations.

RESULTS: We identified a novel c.392G>A (p.C131Y) mutation of the RP2 gene. The baseline clinical evaluations of four affected males in the average age range of 1-8 years showed visual impairment; the mean visual acuity had a logMAR value of 0.5235 (range: 0.301-0.698) with an average spherical equivalent of -4.15D (range: -3.125D to -6.25D). The funduscopic observations were consistent with typical X-linked retinoschisis presentations, including pigmentary abnormalities, tessellated changes, and yellowish-white punctate exudations. We also detected disorganization of the outer retinal layer and decline of the electroretinography (ERG) amplitudes. Meanwhile, the five heterozygous carriers showed a wide range of phenotypic variability accompanied by mild or moderate visual changes. Intriguingly, asymmetric changes of the fundus were also detected in the retina of one of the carriers. During the 8-year follow-up period, the visual acuity remained unchanged or even improved slightly. Although early-onset myopia was more common in children, there was a slightly increasing trend in annual progression; moreover, while the retinal structure did not differ statistically significantly, the ERG changes indicated a steadily decreasing trend.

CONCLUSION: The findings of this study provide insights into the pathogenicity of RP2-related XLRP, expand the spectrum of disease mutations, and enrich knowledge regarding the clinical phenotypes while highlighting the progressive nature and phenotypic variability.

PMID:42261552 | PMC:PMC13242896 | DOI:10.3389/fgene.2026.1783270

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Prevalence and Utilization Patterns of Digital Medical Resources in Clinical Practice Among Family Medicine Physicians in Riyadh Health Clusters

Cureus. 2026 May 8;18(5):e108512. doi: 10.7759/cureus.108512. eCollection 2026 May.

ABSTRACT

Background The integration of digital medical resources has become increasingly important in supporting evidence-based clinical decision-making. In the context of Saudi Arabia’s healthcare transformation, understanding how family physicians utilize these resources during routine clinical practice remains limited. Objective To assess the prevalence, usage patterns, motivations, and perceived barriers related to the use of digital clinical information and decision-support resources during clinic hours among board-certified family medicine physicians working in Riyadh Health Clusters 1, 2, and 3. Methods A cross-sectional study was conducted between January and May 2025 among board-certified family medicine physicians in Riyadh Health Clusters 1, 2, and 3. Data were collected via a self-administered electronic survey distributed during structured site visits. Descriptive statistics and chi-square analyses were performed to examine associations between digital resource utilization and participant demographics. Results A total of 96 participants were included. The majority were aged 25-34 years (n = 61, 63.5%), and most were senior registrars (n = 52, 54.2%). Daily digital resource use was reported by 43 participants (44.8%), with UpToDate being the most utilized resource (n = 36, 37.5%), followed by AMBOSS (n = 19, 19.8%). Access to updated clinical information (n = 55, 57.3%) and improved decision-making (n = 37, 38.5%) were the primary motivations for usage. Younger age, fewer years of clinical experience, and job position were significantly associated with a higher frequency of digital resource utilization (p < 0.05). While most participants perceived positive impacts on clinical efficiency and patient outcomes, barriers such as workflow disruptions, time constraints, and financial limitations were identified. Conclusion Digital medical resources are widely integrated into clinical practice among family medicine physicians in the Riyadh Health Clusters. Utilization patterns vary by physician demographics, with younger and less experienced physicians demonstrating greater reliance. Institutional support, accessibility, and continuous professional development are essential for optimizing digital resource integration into family medicine practice.

PMID:42261549 | PMC:PMC13242935 | DOI:10.7759/cureus.108512

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Effect of Low-Carbohydrate Diets on Glycemic Control in Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis of Randomized Controlled Trials

Cureus. 2026 May 8;18(5):e108479. doi: 10.7759/cureus.108479. eCollection 2026 May.

ABSTRACT

Low-carbohydrate diets have gained increasing attention as a strategy for improving glycemic control in individuals with type 2 diabetes mellitus (T2DM). However, evidence from randomized controlled trials (RCTs) remains variable. This study aimed to evaluate the effect of low-carbohydrate diets on HbA1c levels in patients with T2DM through a systematic review and meta-analysis of RCTs. A systematic search was conducted to identify RCTs comparing low-carbohydrate diets with control diets in adults with T2DM, including studies with mixed populations where applicable. The primary outcome was change in HbA1c. Data were pooled using a random-effects model, and heterogeneity was assessed using the I² statistic. Sensitivity analysis and funnel plot assessment were performed. Risk of bias was assessed using the Cochrane Risk of Bias 2 tool. Seven RCTs comprising 562 participants were included. Low-carbohydrate diets were associated with a statistically significant reduction in HbA1c compared with control diets (mean difference: -0.24%; 95% CI: -0.32 to -0.16; p<0.00001). Heterogeneity was low (I²=6%). Sensitivity analysis demonstrated consistent results with no single study significantly influencing the overall estimate. Funnel plot assessment showed no clear evidence of publication bias, although interpretation was limited by the small number of studies. Low-carbohydrate diets are associated with a modest but statistically significant and clinically relevant improvement in glycemic control in patients with T2DM. These findings support their role as a dietary strategy in diabetes management.

PMID:42261542 | PMC:PMC13242649 | DOI:10.7759/cureus.108479

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Perinatal and Neonatal Outcomes in Infants of Diabetic Mothers: A Prospective Descriptive Study in a Tertiary Care Center in South India

Cureus. 2026 May 8;18(5):e108514. doi: 10.7759/cureus.108514. eCollection 2026 May.

ABSTRACT

Background Maternal diabetes is a well-recognized contributor to neonatal morbidity. Infants born to mothers with gestational diabetes mellitus (GDM) and pregestational diabetes are predisposed to metabolic, respiratory, and hematological disturbances. Understanding the distribution of these outcomes is important for optimizing neonatal care. Objectives To describe neonatal outcomes, including metabolic, respiratory, hematological, and anthropometric parameters, along with perinatal factors and maternal demographic and clinical characteristics among infants of diabetic mothers in a tertiary care setting in South India. Methods A prospective descriptive study was conducted over one year in a tertiary care hospital in South India. A total of 161 eligible mother-infant pairs, in which the mothers had diabetes, were included during the study period from September 2024 to August 2025. Maternal demographic, clinical, and treatment-related characteristics were recorded. Neonatal outcomes, including metabolic, respiratory, hematological, and anthropometric parameters, were assessed using standard definitions. Data were analyzed using descriptive statistics. Results: Among 161 infants, the majority were delivered at term (143, 88.8%). Hypoglycemia was the most frequently observed metabolic abnormality, affecting 22 (13.6%) neonates, followed by hypomagnesemia in five (3.0%) and hypocalcemia in four (2.4%). Hyperbilirubinemia was noted in 35 (21.7%) neonates. Respiratory distress was observed in 25 (15.5%) infants, with transient tachypnoea accounting for the majority. Most infants were appropriate for gestational age (124, 77.0%), while 20 (12.4%) were large and 17 (10.5%) were small for gestational age. Conclusion Infants of diabetic mothers demonstrated hypoglycemia, hyperbilirubinemia, and respiratory distress, which were the most common outcomes. These findings reinforce the importance of systematic surveillance and timely intervention to reduce neonatal morbidity in this high-risk population.

PMID:42261531 | PMC:PMC13242953 | DOI:10.7759/cureus.108514

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Retrospective Drug Utilization Pattern of the Use of Antivirals and Its Outcome in Hospitalized COVID-19 Patients in a Tertiary Care Hospital in Mumbai From July to October 2020

Cureus. 2026 May 8;18(5):e108478. doi: 10.7759/cureus.108478. eCollection 2026 May.

ABSTRACT

Background The initial recommended treatment at the start of the COVID-19 pandemic in India included isolation, symptomatic treatment, oxygen support, empirical antibiotics, and hydroxychloroquine prophylaxis. However, evolving guidelines and limited evidence on antiviral efficacy highlighted a gap in evidence-based treatment approaches. Recognizing this gap, a study was planned to assess the antiviral impact at our institute. We aimed to study the prescription pattern of antivirals in hospitalized COVID-19 patients over four months and analyse the influence of age, gender, antiviral use, comorbidities, and oxygen requirement on outcomes: clinical improvement and hospital stay duration. Methods This retrospective observational single-centre study included reverse transcription-polymerase chain reaction (RT-PCR)-confirmed COVID-19 patients who were hospitalized and received remdesivir, favipiravir, ivermectin, or oseltamivir. Descriptive statistics were analysed using Microsoft Excel 365 (Microsoft® Corp., Redmond, WA). Multiple linear regression and logistic regression models were used with JASP 0.16.3 software. Results Among 400 patient prescriptions, 5,172 drugs were recorded: 542 repurposed antivirals and 4,630 concomitant drugs. Ivermectin (376, 69.37%) was the most frequently prescribed antiviral, followed by remdesivir (97, 17.9%), favipiravir (59, 10.89%), and oseltamivir (10, 1.85%). Nutritional supplements (1536, 33.1%) were the most common concomitant drug class, with vitamin C being the most prescribed. Logistic regression showed that male gender and oxygen therapy were positively associated with clinical improvement. Linear regression revealed that older age and higher disease severity correlated with longer hospital stays. Antiviral use showed no significant association with either disease improvement or duration of stay. Conclusion Ivermectin and remdesivir were the two most frequently used repurposed antivirals. While male gender and oxygen therapy were linked with clinical improvement, older age and severe disease predicted longer hospitalization. Antivirals themselves did not significantly affect outcomes, underlining the complexity of COVID-19 management.

PMID:42261530 | PMC:PMC13242645 | DOI:10.7759/cureus.108478

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Perioperative Pain Management Strategies and Postoperative Outcomes in Tonsillectomy Patients Aged Seven to 14 Years: A Single-Center Study

Cureus. 2026 May 8;18(5):e108504. doi: 10.7759/cureus.108504. eCollection 2026 May.

ABSTRACT

Background Tonsillectomy is a common pediatric procedure requiring effective perioperative pain management to minimize complications and promote recovery. In resource-limited settings, standardized protocols are often challenged by infrastructural constraints and variable adherence to multimodal analgesia guidelines, risking suboptimal pain control and delayed discharge. Objective To evaluate a standardized acetaminophen-based pain management protocol and its impact on postoperative outcomes in children aged seven to 14 years undergoing tonsillectomy at the Lady Reading Hospital, a tertiary care hospital in Peshawar, Khyber Pakhtunkhwa, Pakistan. Methods A prospective observational study was conducted at Lady Reading Hospital, Peshawar, between October 2024 and July 2025. Data from 99 consecutively enrolled patients were collected using a structured proforma, capturing demographics, perioperative medications, pain scores (Numeric Rating Scale 0-10 or Wong-Baker Faces scale), discharge status, oral intake tolerance, and pain at discharge. The analgesic protocol was primarily acetaminophen-based. Patients received intraoperative acetaminophen, with ibuprofen administered postoperatively as needed for breakthrough pain. A single dose of tramadol was given at induction as part of the standard anesthesia protocol. Descriptive statistics were analyzed using SPSS version 25. Ethical approval was obtained from the hospital research committee. Results All 99 patients (100%) received uniform intra-/post-operative acetaminophen (15 mg/kg). Adjunct ibuprofen, as rescue analgesia (PRN), was administered to only six out 99 (6.1%) of patients, whose pain did not subside. Postoperative pain scores revealed that 73.7% (73/99) of the patients reported mild pain (score=3 on the 0-10 pain scale), while 20.2% (20/99) of the patients reported moderate pain (score=5 on the 0-10 pain scale), with the latter predominantly observed in younger children (seven to nine years). All patients 99/99 (100%) tolerated cold liquids orally. Although no patient (0/99) reported pain at discharge (assessed as a binary Yes/No field by nursing staff at time of discharge; not a formal repeated pain score), while 73.7% (73/99) were discharged home after 24 hours, with retention rates peaking among 26/99 (26.3%) patients aged 11-year-olds. Conclusion A standardized perioperative acetaminophen-based monotherapy was associated with generally low pain scores and favorable recovery outcomes, including high rates of oral intake tolerance and minimal pain at discharge in this cohort. However, a proportion of patients still experienced moderate pain, which may be related to the limited use of ibuprofen. Given the observational design and absence of a control group, these findings should be interpreted with caution. Further controlled studies are needed to compare analgesic strategies and to determine the optimal role of adjuncts such as ibuprofen and age-specific dosing. Additionally, system-level factors influencing timely discharge warrant further investigation.

PMID:42261522 | PMC:PMC13242903 | DOI:10.7759/cureus.108504

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Enhancement of Motor Skill Development in Dental Education Through an Art-Based Course, Including the COVID-19 Period

Eur J Dent Educ. 2026 Jun 8. doi: 10.1111/eje.70208. Online ahead of print.

ABSTRACT

BACKGROUND: Modern higher education requires a redefinition of pedagogical objectives to meet the evolving cognitive and perceptual demands of contemporary students. One such emerging objective is the cultivation of visual perceptions. Generational differences suggest that current students possess distinct cognitive profiles and learning preferences compared to previous cohorts. These differences necessitate updated educational strategies that address the unique ways newer generations process and engage with information.

METHOD: This longitudinal comparative study involved a 12-week developmental course, designed and led by a single art educator and implemented with dental student volunteers. The course integrated one phase focused on drawing and two phases involving wax carving, all structured around a self-assessment framework to encourage reflective practice. To evaluate changes in motor performance, the Purdue Pegboard Test was administered at two intervals: prior to and following the course.

RESULTS: Participants demonstrated statistically significant improvements in motor performance across all academic levels. Notably, students who experienced educational disruption due to the COVID-19 pandemic exhibited greater gains, despite the lack of skill development traditionally expected within the dental curriculum. These findings suggest that the course provided compensatory cognitive and motor training during a period of limited practical instruction.

CONCLUSION: The developmental course was associated with improvements in motor coordination and visual perception among student participants. The observed improvements, particularly in the context of pandemic-related educational challenges, underscore the value of integrating manual dexterity training into university curricula. This approach may address both generational learning differences and gaps in skill acquisition resulting from disrupted educational pathways.

PMID:42260328 | DOI:10.1111/eje.70208

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Decent Work Mediates the Relationship Between Work Capital and Work Engagement Among Nurses

Nurs Open. 2026 Jun;13(6):e70633. doi: 10.1002/nop2.70633.

ABSTRACT

BACKGROUND: Work engagement is essential for nurses’ motivation, retention and quality of care. However, the mechanisms linking organizational resources to engagement remain insufficiently understood. Grounded in the Job Demands-Resources (JD-R) model, this study examined whether decent work is statistically associated with the relationship between work capital (WC) and work engagement among nurses.

METHODS: A cross-sectional survey was conducted among 535 nurses from multiple hospitals in Zhejiang Province, China. Standardized instruments were used to assess WC, Decent Work (DW), and Work Engagement (UWES). Data were analysed using confirmatory factor analysis and mediation analysis (PROCESS Model 4, 5000 bootstrap samples).

RESULTS: Work Capital was positively associated with decent work (B = 0.74, p < 0.001) and work engagement (B = 0.19, p < 0.001). Decent work was positively associated with work engagement (B = 0.85, p < 0.001). Mediation analysis indicated a significant indirect association (indirect effect = 0.67, 95% CI [0.56, 0.79]), accounting for 76.1% of the total association. Subscale comparisons, based on standardized mean scores, suggested relatively higher dedication and lower absorption levels.

CONCLUSION: Decent work may function as a potential explanatory pathway linking work capital and work engagement. These findings highlight the importance of considering both resource availability and perceived work quality when examining engagement in nursing contexts.

IMPACT: This study extends the JD-R framework by examining decent work as a potential mediating mechanism between work capital and work engagement in nurses.

REPORTING METHOD: This study followed the STROBE guidelines for cross-sectional studies.

PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

PMID:42260327 | DOI:10.1002/nop2.70633

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Clinical value of cerebrospinal fluid metagenomic next genera-tion sequencing in diagnosing neonatal intracranial infections

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2026 Jun 8:1-10. doi: 10.3724/zdxbyxb-2025-0965. Online ahead of print.

ABSTRACT

OBJECTIVES: To evaluate the diagnostic performance of cerebrospinal fluid (CSF) metagenomic next generation sequencing (mNGS) for neonatal intracranial infections and its impact on clinical decision making.

METHODS: A retrospective observational study was conducted. Neonates admitted to the Children’s Hospital, Zhejiang University School of Medicine from 2020 to 2025 with suspected intracranial infection who underwent CSF mNGS were enrolled. The sensitivity of mNGS and its concordance with CSF culture and PCR were calculated. Clinical impact was assessed using predefined criteria, and samples were categorized into positive impact and no impact groups to identify independent factors influencing the clinical utility of mNGS.

RESULTS: Among 61 neonates with suspected intracranial infection, 48 were confirmed. Pathogens were identified in 18 cases, of which 9 were detected exclusively by mNGS, accounting for 50% of etiological diagnoses. The sensitivity of mNGS was 31.3% (95% CI: 18.7%-46.3%), higher than that of culture PCR (18.8%, 95% CI: 8.9%-32.6%), but the difference was not statistically significant (P=0.15). The positive and negative concordance rates between mNGS and culture PCR were 66.7% (95% CI: 29.9%-92.5%) and 76.9% (95% CI: 60.7%-88.9%), respectively. mNGS positively influenced clinical decisions in 37.7% (23/61) of patients: 12 cases with positive results guided etiological diagnosis and treatment adjustment, and 11 cases with negative results led to antibiotic de escalation or discontinuation. Multivariate analysis identified a positive mNGS result as an independent factor associated with positive clinical impact (OR = 22.127, P<0.01).

CONCLUSIONS: CSF mNGS provides valuable support in etiological diagnosis and clinical decision making for neonatal intracranial infections.

PMID:42260308 | DOI:10.3724/zdxbyxb-2025-0965

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Hyperpathway: visualizing organization of pathway-molecule enriched interactions in omics studies via hyperbolic bipartite network embedding

NPJ Syst Biol Appl. 2026 Jun 9. doi: 10.1038/s41540-026-00752-w. Online ahead of print.

ABSTRACT

Pathway enrichment analysis (PEA) of omics data identifies significant pathway-molecule associations, yet delivers results as tabular lists in which complex systems-biology insights remain inaccessible. Hyperpathway is an open-access network-based webtool that addresses this limitation through three original innovations: (1) conversion of a PEA results table into a pathway-molecule bipartite network; (2) a minimal artificial linking strategy to resolve structural disconnections; (3) a leaf removal and post-hoc reinsertion pipeline that accelerates coalescent embedding without any loss of geometric fidelity. The resulting network is visualized in a two-dimensional hyperbolic disk with flexible coloring schemes encoding hierarchical relevance, connectivity similarity, statistical significance, or user-defined annotations; revealing latent functional modules that are invisible in conventional tabular outputs. Validated on genomic, metabolomic, and lipidomic datasets, Hyperpathway enables a deeper, systems-level understanding of the interplay between pathways and their molecular components, providing insights that go beyond p-value-based significance testing. Beyond PEA, Hyperpathway can be used as a general-purpose open webtool for fast hyperbolic embedding and interactive visualization of any bipartite network.

PMID:42260283 | DOI:10.1038/s41540-026-00752-w