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Hysteroscopic platelet-rich plasma and medically assisted reproduction outcomes: a systematic review and SWOT analysis.

BACKGROUND: Platelet-rich plasma (PRP) has been proposed as an adjuvant treatment in reproductive medicine. While most evidence refers to blind intrauterine instillation, subendometrial administration under hysteroscopic guidance allows targeted delivery under direct visualisation. This systematic review aimed to synthesise the available evidence on hysteroscopic PRP administration and its impact on clinical medically assisted reproduction (MAR) outcomes. METHODS: A systematic search was conducted from inception to December 2025 across major databases. Studies were included if they evaluated hysteroscopic PRP administration in women undergoing MAR, comparing reproductive outcomes between treated and control groups. RESULTS: Out of 142 records, 3 studies met the inclusion criteria. Study populations were heterogeneous and included women with refractory thin endometrium and/or a history of implantation failure. Hysteroscopic PRP administration protocols varied in timing, technique, and dosage. In a prospective case-control study, hysteroscopic intraendometrial PRP injection at a depth of 2-3 mm in the four uterine walls, using an ovum aspiration needle, on days 11-13 of the cycle prior to euploid frozen embryo transfer (ET), was associated with higher implantation (IR), clinical pregnancy (CPR), and live birth rates (LBR) compared with standard therapy. Conversely, no significant differences in CPR, miscarriage rate, or LBR were observed in an observational study evaluating a single intraendometrial PRP injection (35-40 mL, 2-3 mm depth), administered via endoscopic needle on days 6-8 of the menstrual cycle preceding frozen ET, alone or after electrical impulse therapy. A randomised controlled trial in women undergoing intrauterine insemination reported a significant improvement in CPR following hysteroscopic subendometrial PRP instillation in the four uterine walls (1.0 mL each). CONCLUSIONS: Current literature on hysteroscopic PRP administration in reproductive medicine is limited, and robust conclusions cannot yet be drawn. Well-designed randomised controlled trials with standardised protocols are needed to clarify its clinical role.

Humans

Efficacy and Safety of Celecoxib Combined With Jintiange Capsules for the Treatment of Knee Osteoarthritis: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial.

BACKGROUND Knee osteoarthritis (KOA) poses a substantial global health burden, and conventional nonsteroidal anti-inflammatory drug (NSAID) therapy with celecoxib is hindered by adverse effects. This study evaluated the efficacy and safety of combining celecoxib with Jintiange capsules, a synthetic tiger bone formulation used in traditional Chinese medicine (TCM), to manage symptomatic KOA. MATERIAL AND METHODS This 12-week, randomized, double-blind, placebo-controlled trial enrolled 120 patients with KOA (age &#xf0b3;40 years; visual analog scale [VAS] score 4-7). Participants received celecoxib (200 mg/day tapered to 100 mg/day) combined with either Jintiange capsules (3.6 g/day) or placebo. The primary outcome was the change in the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) total score. Secondary outcomes included WOMAC subscale scores (pain, function, and stiffness), VAS scores, and adverse drug reaction reports. RESULTS The experimental group demonstrated a 23.5-point (37.8%) reduction in WOMAC total score from baseline (P<0.001); the control group showed a 13.2-point (21.6%) reduction (P<0.001). The experimental group achieved 51.6% improvement in the WOMAC pain subscale (P<0.001), whereas the control group showed 33.3% improvement (P<0.001). Relative to the control group, the experimental group demonstrated a greater reduction in VAS score (P<0.001). Combined TCM-NSAID therapy produced significantly greater pain relief and functional improvement than NSAID monotherapy. CONCLUSIONS Celecoxib combined with Jintiange capsules provided clinically meaningful improvements in pain relief and functional outcomes relative to celecoxib monotherapy in patients with KOA. These findings support integration of TCM with conventional pharmacotherapy for osteoarthritis management.

Humans

Effect of a pharmacist-led mHealth app on adherence, quality of life, and glycaemic control in diabetes: A multicentre RCT.

AIMS: To evaluate whether CareAide&#xae;, a pharmacist-driven mHealth application, improves medication adherence, health-related quality of life (HRQoL), and glycaemic control in diabetes mellitus using structural equation modelling. METHODS: Pre-specified secondary analysis of the type 2 diabetes mellitus cohort from a 6-month multicentre open-label randomised controlled trial (N&#xa0;=&#xa0;663) across three Malaysian hospitals. Adherence was assessed by MMAS-8 (subjective) and Proportion of Days Covered (PDC; pharmacy-verified). HRQoL was measured by AQoL-6D and EQ-5D-5&#xa0;L. Structural equation modelling (SEM), Necessary Condition Analysis, and Importance-Performance Map Analysis (cIPMA) were applied. RESULTS: CareAide&#xae; produced large adherence gains (MMAS-8: 7.31 vs 5.55, d&#xa0;=&#xa0;1.64; PDC&#xa0;&#x2265;&#xa0;80%: 81.6% vs 33.0%; both p&#xa0;<&#xa0;0.001). Early 3-month adherence was the strongest predictor of sustained 6-month adherence in both models (&#x3b2; std&#xa0;=&#xa0;0.567 and 0.688; p&#xa0;<&#xa0;0.001). AQoL-6D utility improved significantly (0.669 vs 0.618; d&#xa0;=&#xa0;0.353, p&#xa0;<&#xa0;0.001), driven by coping (d&#xa0;=&#xa0;0.447) and relationships (d&#xa0;=&#xa0;0.254) domains. HRQoL did not mediate adherence; gains were a direct independent benefit. The intervention effect on HbA1c was not statistically significant in the PDC-based SEM model (&#x3b2;&#xa0;=&#xa0;&#xa0;-&#xa0;0.333, p&#xa0;=&#xa0;0.065); a group difference was, however, supported by baseline-adjusted ANCOVA (&#x3b2;&#xa0;=&#xa0;&#xa0;-&#xa0;0.41%, p&#xa0;=&#xa0;0.002), and the complete-case comparison was non-significant (p&#xa0;=&#xa0;0.153), so glycaemic findings warrant cautious interpretation. cIPMA identified the intervention as the primary optimisation target. CONCLUSIONS: CareAide&#xae; significantly improves medication adherence and psychosocial quality of life. Evidence for glycaemic benefit came from baseline-adjusted analysis (ANCOVA), though findings should be interpreted with caution given incomplete HbA1c data at one site. The first three months are the most critical period for pharmacist support. In this dataset, PDC appeared more sensitive than MMAS-8 to the HbA1c signal within 6&#xa0;months, but this finding requires confirmation in longer studies with more complete HbA1c data. TRIAL REGISTRATION: ClinicalTrials.gov NCT06068309.

Aged

Nurse-led titration models of care for heart failure reduced ejection fraction: a systematic narrative review of characteristics, patient outcomes, and healthcare resource utilization.

AIMS: Nurse-led titration (NLT) models of care assist with delivery of guideline directed medical therapy for patients with heart failure with reduced ejection fraction (HFrEF). Effectiveness of NLT is established but there is limited information of characteristics of models, patient outcomes and healthcare resource utilization. To build upon the existing evidence by providing a systematic narrative review of the literature of NLT of medications for patients with HFrEF. This review syntheses characteristics of NLT models of care, patient outcomes and healthcare resource utilization. METHODS AND RESULTS: A systematic narrative literature review with systematic search strategy, identification of results, thematic analysis and narrative synthesis. A search was conducted from 2012 to 2025 in Medline, Cinahl complete, Embase and Cochrane. Sixteen studies of NLT models of care were identified from 1944 screened records. Characteristics of models of care were participation of nurses, multidisciplinary teams, follow-up and common features of service delivery. Patient outcomes of mortality were favourable for those that received NLT. There is some evidence of changes in healthcare resource utilization; studies in which the NLT groups received more HF nurse visits and greater HF medication use also reported reduced rehospitalizations. CONCLUSION: Findings reinforce the published benefits of NLT. Additional studies examining adverse events and quality-of-life outcomes are needed to strengthen the evidence base. Several studies suggest a shift in resource use with NLT, highlighting the need for an economic evaluation to inform a cost-effective model of care.

Humans

Behind the Curtain of Care. Nurses' Experiences Providing Care to Consumers With Alcohol and Other Drug Issues: A Qualitative Scoping Review.

AIM: To scope and synthesise qualitative literature relating to nurses' experiences of providing care to consumers with alcohol and other drug issues and explore how meaning is constructed in practice. DESIGN: Scoping review. METHODS: A scoping review was conducted following Arksey and O'Malley's framework. Findings were analysed using thematic analysis. DATA SOURCES: Systematic searches were conducted between September and November 2025 across Medline, Emcare, CINAHL and Google Scholar, using controlled vocabulary and keywords relevant to nurses' experiences of providing care to consumers with alcohol and other drug issues. RESULTS: Twenty-four studies from 12 countries were included. Seven themes were identified: emotional aspects of care, education, training and skills in practice, the spectrum of stigma, ethical issues in professional practice, navigating pain management, limited support, and how meaning is constructed in practice. CONCLUSION: Nurses' experiences of providing care to consumers with alcohol and other drug issues are shaped by multiple intersecting factors influencing care delivery and professional practice. Further research is needed to examine how workplace culture, language and interpersonal interactions influence healthcare experiences, and inform education, service development and support needs. REPORTING METHOD: Reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) checklist. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

alcohol and other drugs

Evolution of Precision Oncology, Personalized Medicine, and Molecular Tumor Boards.

With multiple molecular targeted therapies available for patients with cancer that correspond to a specific genetic alteration, the selection of the best treatment is essential to ensure therapeutic efficacy. Molecular tumor boards (MTBs) play a key role in this process to deliver personalized medicine to patients with cancer in a multidisciplinary manner. Historically, personalized medicine has been offered to patients with advanced cancer, but the incorporation of molecular targeted therapies and immunotherapy into the perioperative setting requires clinicians to understand the role of the MTB. Evidence is accumulating to support feasibility and survival benefit in patients treated with matched therapy.

Humans

Optimizing smoking cessation pharmacotherapy and counseling for adult primary care patients: a factorial randomized controlled trial.

BACKGROUND: Even with the most effective smoking cessation pharmacotherapies (i.e., varenicline or combination nicotine replacement [C-NRT]), the majority of people ultimately return to smoking. This research explored how to optimize the use of varenicline and C-NRT to promote smoking cessation. METHODS: Primary care patients participated in a 2x2x2x2 factorial experiment that evaluated 4 factors: 1) Medication Type (Varenicline vs. C-NRT [patch&#xa0;+&#xa0;mini-lozenge]), 2) Preparation (pre-quit) Medication (4 Weeks vs. Standard); 3) Medication Duration (Extended [24&#xa0;weeks] vs. Standard [12&#xa0;weeks]); and 4) Counseling Type (Cessation Counseling [4 sessions] vs. Referral Support [2 sessions focused on use of referral resources]). This study was discontinued prior to reaching the proposed sample size (N&#xa0;=&#xa0;608) due to pandemic-related budgetary constraints. RESULTS: Participants (N&#xa0;=&#xa0;496) were 55% women and 45.6% Black individuals. There were no statistically significant main effects of the 4 factors on abstinence at 12, 26 or 52&#xa0;weeks. There was a 3-way interaction between Medication Type, Preparation Medication, and Counseling Type (p&#xa0;=&#xa0;0.04) predicting the primary outcome of biochemically confirmed abstinence at 52&#xa0;weeks; cessation counseling vs. referral support improved varenicline quit rates when 4&#xa0;weeks versus 1&#xa0;week of pre-quit medication was offered. For C-NRT, counseling type did not significantly improve quit rates regardless of the use of preparation medication. CONCLUSIONS: There was no robust evidence that enhanced pre-quit or extended duration of varenicline or C-NRT increased abstinence rates. More intensive counseling may support cessation for different pharmacotherapy regimens. Given the lack of consistent findings, this research should be viewed as exploratory to guide future research.

Humans

[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

OBJECTIVE: To explore the pathogenicity and characteristics of a heterozygous splicing variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus (GEFS+). METHODS: A retrospective analysis was carried out on the clinical data and results of genetic testing of a GEFS+ pedigree consisting of 5 members who had visited the First Affiliated Hospital of Zhengzhou University on July 1, 2024. Pathogenicity of the splicing variant of the SCN1A gene was validated with a minigene splicing assay. This study was approved by the Medical Ethics Committee of the the First Affiliated Hospital of Zhengzhou University (Ethics No.: KS-2018-KY-36). RESULTS: The proband, a 24-year-old female, presented with FS in conjunct with focal seizures, and both of her younger brothers had Dravet syndrome. All of the three patients had carried a c.4476+5G>T variant of the SCN1A gene, which was unreported previously. Minigene experiment verified that the variant could cause loss of the first 7 bps of exon 24 and 138 bps from exon 23 of the SCN1A gene, resulting in alteration p.V1447_1495delfs*6 and affecting splicing. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant was predicted as likely pathogenic (PVS1+PM2_Supporting). CONCLUSION: The c.4476+5G>T variant at an intronic site of the SCN1A gene probably underlay the pathogenesis of GEFS+ in this pedigree.

Adult

Metformin Adherence and Risk of Polyneuropathy in Type 2 Diabetes Mellitus: An International Matched Cohort Study with Independent Validation.

BACKGROUND: Metformin is a popular first-line glucose-lowering medication for type 2 diabetes mellitus (T2DM). Although metformin reduces the risks of various complications of diabetes, its potential to cause polyneuropathy by depleting vitamin B12 levels is concerning. This study investigated whether the adherence or discontinuation of metformin after adding-on a second-line antiglycemic agent increases the risk of polyneuropathy in patients with T2DM. METHODS: Data from TriNetX were obtained, and patients with T2DM who were receiving second-line antiglycemic agents were divided into metformin-adherent and metformin-nonadherent groups based on prescription claims data. Neuropathy incidence was evaluated using diagnostic claims and nerve conduction examinations. For independent confirmation and external validation of the primary findings, we used data from the National Health Insurance Research Database (NHIRD) of Taiwan. RESULTS: After matching, 58,027 patients were included in each group. Compared with metformin adherent patients, metformin nonadherent patients had a higher risk of polyneuropathy (adjusted hazard ratios [aHR] 1.26; 95% confidence interval [CI] 1.23-1.29; P < 0.001). Risks of diabetic foot ulcer, amputation, neuropathy-related medication use, and bone fracture were also higher among nonadherent patients. Sensitivity analyses confirmed the robustness of findings. In the validation NHIRD cohort (31,384 matched pairs), metformin nonadherence remained associated with increased polyneuropathy risk (aHR 1.25; 95% CI 1.10-1.42; P < 0.001). CONCLUSIONS: Metformin adherence in patients with T2DM who require second-line treatment may reduce the risk of polyneuropathy; vitamin B supplementation may enhance this benefit.

Humans

[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].

OBJECTIVE: To analyze a novel exonic variant of the SALL1 gene and its impact on the binding site of SALL protein. METHODS: Clinical data of three children diagnosed with Townes-Brocks syndrome and their family members who had presented at the First Affiliated Hospital of Shandong First Medical University in April 2022 were retrospectively collected. The pathogenic variant was identified through whole-genome sequencing (WGS) and validated by Sanger sequencing. Protein structural prediction was performed using AlphaFold and PyMOL software to construct three-dimensional models of the wild-type and mutant proteins. Additionally, previously reported cases were systematically reviewed. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-386). RESULTS: The proband was one of triplet sisters born at 34+4 gestational weeks. All three cases had presented with anal atresia and rectovaginal fistula, and case 3 also had toe malformation of left foot. WGS revealed a novel heterozygous c.757C>T (p.Gln253*) variant in the SALL1 gene, which was predicted to be pathogenic. Sanger sequencing confirmed co-segregation of the variant with the disease within the family. Protein structural modeling demonstrated that the variant has introduced a premature stop codon at position 253, resulting in a truncated protein. CONCLUSION: Above finding has enriched the mutation spectrum of the SALL1 gene in association with Townes-Brocks syndrome, which also represented a rare case of anal atresia in triplets, and provided a basis for molecular diagnosis, genetic counseling, and further research.

Humans

Perioperative care for patients with opioid exposure and opioid use disorder: screening and treatment strategies.

PURPOSE OF REVIEW: The prevalence of opioid tolerance, dependence, and use disorder is increasing among patients presenting for surgical care, yet perioperative management strategies for these patients remain inconsistent. This review examines the impact of preoperative opioid exposure on surgical outcomes, the scope of untreated opioid use disorder (OUD) among surgical patients, and advances in clinical and systems-level approaches to perioperative care. RECENT FINDINGS: Preoperative opioid exposure independently predicts worse surgical outcomes, including higher opioid consumption, readmissions, complications, and mortality, in a dose-dependent manner. Perioperative opioid exposure predicts persistent opioid use after surgery, with the duration of exposure a stronger predictor of subsequent OUD than daily dose. Data-driven prescribing guidelines and structured opioid tapering reduce overprescribing without compromising pain control. Among surgical patients with diagnosed OUD, approximately two-thirds do not receive medications for opioid use disorder (MOUD), though treatment engagement and maintenance substantially improve outcomes. Evidence now clearly supports perioperative buprenorphine continuation over interruption. SUMMARY: Effective perioperative management of opioid-complex surgical patients requires systematic screening, evidence-based prescribing, MOUD continuation, and institutional infrastructure. The primary barrier is shifting from evidence generation to implementation.

Humans

[A case of bilateral open-lip schizencephaly with West syndrome due to variant of PAFAH1B1 gene and literature review].

OBJECTIVE: To report the clinical manifestations, genetic features, diagnosis, treatment, and prognosis of a child with bilateral open-lip schizencephaly complicated by West syndrome due to a variant of PAFAH1B1 gene, and review the relevant literature. METHODS: Clinical data of a 4-month-old boy were retrospectively analyzed, and 35 previously reported cases were systematically reviewed. This study was approved by the Medical Ethics Committee of Gansu Provincial People's Hospital (Ethics No.: 2025-871). RESULTS: The 4-month-old boy presented with clustered flexor spasms, hypsarrhythmia on electroencephalography, and developmental regression. Brain magnetic resonance imaging revealed bilateral pachygyria, schizencephaly, and dysgenesis of the corpus callosum. Trio whole-exome sequencing identified a de novo heterozygous NM_000430.4: c.703_704delAG (p.Glu235Metfs*20) frameshift variant in the PAFAH1B1 gene. Sanger sequencing confirmed that neither parent carried this variant. Based on the guidelines from American College of Medical Genetics and Genomics (ACMG), the variant has met the criteria for PVS1+PS2_Moderate+PM2_Supporting, and was classified as pathogenic. After treatment with adrenocorticotropic hormone combined with vigabatrin and other antiseizure medications, the epileptic spasms were controlled and the electroencephalographic abnormalities had improved. However, global developmental delay persisted at the 12-month follow-up. Analysis of the present case and 35 previously reported cases showed that PAFAH1B1-related phenotypes were highly consistent, mainly including infantile spasms (28/36), developmental delay/intellectual disability (29/36), and abnormal brain MRI findings (30/36), predominantly cortical malformations. The reported variant types included deletions, frameshift variants, nonsense variants, missense variants, and splice-site variants. CONCLUSION: PAFAH1B1 gene variants are an important cause for cortical malformations, including schizencephaly, and may lead to secondary West syndrome. This study has systematically summarized the genotypic and phenotypic features of bilateral open-lip schizencephaly complicated by West syndrome associated with a frameshift variant of the PAFAH1B1 gene. For infants with epileptic spasms or early-onset epilepsy accompanied by structural brain abnormalities, early genetic evaluation should be performed, and antiseizure treatment should be integrated with neurodevelopmental rehabilitation to facilitate long-term management.

Humans

How Following Medical Artificial Intelligence Advice Can Mitigate Malpractice Liability: Cross-National Insights from a Randomized Trial.

Artificial intelligence (AI) increasingly influences clinical decision-making, yet its recommendations may diverge from standard care. Although malpractice concerns are thought to discourage physicians from following AI advice, experimental evidence from the United States suggests the opposite: lay jurors are more likely to hold physicians liable when they reject AI recommendations. Whether this pattern extends to systems in which court-appointed experts, not lay jurors, determine liability remains unknown. Methods: To examine how physicians and laypeople in expert-based and lay-juror legal systems evaluate physicians' acceptance or rejection of AI recommendations, particularly when those recommendations deviate from standard care, we designed a randomized vignette study: a 2 &#xd7; 2 factorial design varying the AI recommendation (standard vs. nonstandard care) and a fictional physician's decision (accept vs. reject). The study was conducted online in 2023 among nationally representative samples of U.S. and German adults and from 2023 to 2024 among German physicians. In total, 387 German physicians, 2291 U.S. adults, and 2283 German adults participated; those not completing the survey or failing attention checks were excluded per preregistered criteria. Participants were randomly assigned to 1 of 4 vignettes, varying the AI recommendation (standard vs. nonstandard care) and physician's decision (accept vs. reject). The reasonableness of the fictional physician's decision was measured, rated by participants on a Likert scale. Results: Analysis, following preregistered exclusion criteria, included 248 German physicians, 1202 U.S. adults, and 1358 German adults. Physicians accepting standard-care AI recommendations were rated more reasonable than those rejecting them (U.S. laypeople: t = 5.36; 95% CI, 0.45-0.97; P < 0.001; German physicians: t = 2.47; 95% CI, 0.14-1.30; P = 0.02; German laypeople: t = 4.14; 95% CI, 0.27-0.76; P < 0.001). Ratings of physicians accepting versus rejecting AI nonstandard-care recommendations were statistically equivalent. Equivalence was tested at an &#x3b1;-value of 0.05 using a two 1-sided tests procedure, reported with 90% CIs per standard convention (U.S. laypeople: t = -4.90; 90% CI, -0.1 to 0.36; P < 0.001; German physicians: t = -1.76; 90% CI, -0.12 to 0.67; P = 0.04; German laypeople: t = 5.35; 90% CI, -0.35 to 0.06; P < 0.001). Conclusion: Across the United States and Germany, samples representative of lay jurors and court-appointed experts viewed accepting standard-care AI advice as more reasonable, whereas accepting or rejecting nonstandard-care AI advice was judged similarly. Contrary to predictions, malpractice liability regimes do not necessarily pose a barrier to AI use in precision medicine.

Artificial Intelligence

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

OBJECTIVE: To explore the genetic characteristics of a complex balanced translocation involving four non-homologous chromosomes in a Chinese pedigree using optical genomic mapping (OGM). METHODS: A woman with primary infertility and her family members who presented at the Prenatal Diagnosis Center of the Sixth Affiliated Hospital of Sun Yat-sen University in October 2021 were selected as study subjects. Comprehensive analysis and verification of chromosomal abnormalities were conducted through conventional G-band karyotyping analysis, single nucleotide polymorphism microarray (SNP array) and OGM. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: E2022210). RESULTS: G-band karyotyping analysis indicated that the proband, her father, and younger brother have all carried a complex translocation involving four chromosomes. SNP array analysis revealed a duplication of approximately 21.63 Mb in the 9p24.1-p21.1 region in the proband's younger brother, while no abnormality was detected in other family members. OGM confirmed that the complex balanced translocation has involved chromosomes 5, 8, 9, and 10. CONCLUSION: The proband has harbored a complex balanced translocation. OGM has demonstrated certain advantages in characterization of complex chromosomal structural abnormalities.

Humans

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First Non-European Cohort.

Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life-threatening vascular events, but outcomes in non-European populations and the therapy's psychological impact remain unclear. We conducted a retrospective cohort study of individuals aged &#x2265;&#x2009;20&#x2009;years with genetically confirmed vEDS in a single referral center in Japan between 2000 and 2024. Clinical, molecular, and treatment data were obtained from medical records, and semi-structured interviews were conducted with a subset of participants to assess patient experiences. Twenty-six patients were included. The mean age at celiprolol initiation was 36.9&#x2009;years, with a mean follow-up of 96.6&#x2009;months. All patients received celiprolol, and 61.5% reached the target dose (400&#x2009;mg/day). One patient died of hepatic artery rupture; vascular events occurred in 11, while 14 remained event-free. No significant associations were observed between vascular event occurrence and genotype or celiprolol dose. Interviews with 11 patients revealed that celiprolol use provided emotional reassurance and promoted a more proactive approach to disease management. Celiprolol therapy may reduce fatal vascular events in vEDS and have a positive psychological impact, though nonfatal vascular complications remain frequent.

Humans

Treatment preference for once-weekly versus once-daily DPP-4 inhibitors in patients with type 2 diabetes mellitus: a systematic review and meta-analysis of randomized controlled trials.

BACKGROUND/OBJECTIVE: Although once-weekly and once-daily DPP-4 inhibitors have gained widespread market recognition, patient preference differences remain a key focus. This meta-analysis compares treatment preferences for once-weekly versus once-daily DPP-4 inhibitors in T2DM, offering evidence to guide clinical decisions and healthcare policies. METHODS: PubMed, OVID, EBSCO, Web of Science, CNKI, Wanfang, and clinical trial registries were searched up to June 30, 2025. After screening literature against predefined criteria, a systematic review was conducted to compare the effects of once-weekly and once-daily DPP-4 inhibitors on the treatment preferences of patients with T2DM. RESULTS: 8 RCTs with 1,575 participants were analyzed. No significant difference in medication adherence and DTSQ total score between the once-weekly and once-daily groups (p > 0.05). HbA1c percentage (MD = -0.21, 95% CI [-0.42, -0.01], p < 0.05) decreased significantly with once-weekly dosing, while GA and FPG showed no change (p > 0.05), this suggests greater improvement in HbA1c percentage levels following a switch to once-weekly DPP-4 inhibitors. Once-weekly DPP-4 inhibitors showed higher musculoskeletal/connective tissue disorder risk (RR = 2.63; 95% CI [1.18, 5.83]), but no significant differences in other adverse events (p > 0.05). No significant differences in treatment burden between both groups (p > 0.05). CONCLUSION: No statistically significant association between treatment preferences for once-weekly versus once-daily DPP-4 inhibitors among T2DM patients and medication adherence, treatment satisfaction, glycemic level changes, safety, or treatment burden for these two dosing regimens. Further research is needed to elucidate the influence of physician prescribing behavior on these preferences.

Humans

Understanding Dynamics: A Systematic Review of the Attitudes, Knowledge, and Competencies of European Frontline Professionals Toward Domestic Abuse.

There remains a paucity of European research on attitudes and responses to domestic abuse from frontline workers and professionals who regularly encounter domestic abuse or engage with domestic abuse legislation. This systematic review synthesized qualitative, quantitative, and mixed-method peer-reviewed studies that explored professionals' knowledge, attitudes, and competencies related to domestic abuse. The professionals included medical staff (doctors, nurses, midwives), social care professionals, police officers, and criminal justice practitioners. The review was conducted on current European studies published between 2014 and 2025 and was reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Databases consulted included APA PsycInfo, Scopus, Web of Science, PubMed, Sociological Abstracts, International Bibliography of the Social Sciences, Social Services Abstracts, and Google Scholar. Full-text review was performed on 273 articles, of which 36 were deemed appropriate for inclusion. The review included 8 multi-country studies spanning the United Kingdom (England, Scotland, and Wales), and 28 single-country studies conducted in England, Sweden, Turkey, Portugal, the Republic of Ireland, Wales, Bosnia, Spain, Italy, Slovenia, and Hungary. A narrative and thematic synthesis categorized professional attitudes toward domestic abuse into four emergent themes: attitudes toward engagement and responsibility, attitudes toward victims, knowledge and understanding of domestic abuse, and attitudes as predictors of professional practice. This review addresses a dearth of research and provides recommendations for promoting proactive practice among professionals most likely to receive disclosures of abuse.

Humans

De Novo 2.2&#x2009;Mb 19q13.42-q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model.

U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre-mRNA splicing factor involved in the early stages of pre-mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic corpus callosum. Here, we describe a patient with a de novo 2.2&#x2009;Mb interstitial deletion involving chromosome 19q13.42-q13.43, encompassing U2AF2, presenting with intellectual disability, epilepsy, corpus callosum hypoplasia, dysmorphic features, and congenital heart disease. The patient's clinical features overlap substantially with those reported in individuals harboring heterozygous U2AF2 variants, supporting haploinsufficiency as a plausible disease mechanism. To our knowledge, this represents the first postnatal report of complete U2AF2 gene deletion. In addition, this is the first detailed phenotypic characterization of a distal 19q chromosomal interstitial deletion, further delineating the clinical spectrum associated with this genomic region.

Humans