Category: Nevin Manimala

Genet Med. 2027 Jan 22:101943. doi: 10.1016/j.gim.2026.101943. Online ahead of print.

ABSTRACT

PURPOSE: The G6PD missense variant rs1050828 (NP_000393.4:p.Val98Met) is common in African and African American populations. It lowers HbA1c levels independent of glycemia, increasing the risk of underdiagnosis or delayed diagnosis of diabetes. We aimed to develop polyphenotypic scores (PPS) using routinely collected phenotypes to identify likely carriers.

METHODS: Using data from 31,083 African or African American participants in the All of Us Research Program (AoU), we developed sex-specific PPS through multi-stage variable selection. We validated the PPS in independent African or African American individuals from AoU (N = 8,846), BioMe Biobank (N = 8,839), and UK Biobank (N = 6,811), and evaluated their utility among individuals without diagnosed diabetes.

RESULTS: The PPS achieved an area under the receiver operating characteristic curve ranging from 0.7614 to 0.8686 in identifying male hemizygotes and from 0.7378 to 0.8654 identifying female homozygotes. Among individuals without diagnosed diabetes and with HbA1c <6.5%, PPS-based screening reduced the number needed to screen for identifying male hemizygotes by 65-90% and female homozygotes by 80-90%, compared to random screening.

CONCLUSION: The PPS may help identify likely rs1050828 carriers in African and African American populations, supporting prioritization for confirmatory testing or alternative diagnostic approaches for diabetes.

PMID:42170804 | DOI:10.1016/j.gim.2026.101943

Twin Res Hum Genet. 2026 May 22:1-12. doi: 10.1017/thg.2026.10070. Online ahead of print.

ABSTRACT

Record linkage projects provide powerful opportunities to enrich cohort data with administrative and clinical information from national registries. The Netherlands Twin Register (NTR) is a large population-based twin-family cohort with longitudinal data collection that has established multiple record linkage initiatives to expand research on genetic and environmental determinants of health, disease, behaviour, development, and fertility. In this article we summarize and discuss NTR record linkage projects. Clinical and pathology registries have provided essential data on chorionicity, reproductive history, neonatal thyroid function, and cancer diagnoses, facilitating studies on prenatal environment, disease heritability, and polygenic risk prediction for diseases. Linkage with health insurance data has enabled validation of medication use and health research. Collaborations with Statistics Netherlands allow linkage to nationwide population-based data via secure infrastructures such as Open Data Infrastructure for Social Science and Economic Innovations (ODISSEI), supporting genomewide association studies of, for example, healthcare expenditure. Finally, linkage to environmental exposure datasets has permitted exposomewide analyses of health and wellbeing. Together, these projects illustrate the feasibility, scientific value, and challenges of record linkage in the Dutch context, highlighting its role in advancing twin research, genetic epidemiology, and population health studies.

PMID:42170785 | DOI:10.1017/thg.2026.10070

Health Soc Care Deliv Res. 2026 May;14(15):1-91. doi: 10.3310/XYRV6485.

ABSTRACT

BACKGROUND: In 2019, the NHS App was launched as a ‘digital front door’ to England’s National Health Service, aiming to improve access to primary care, enhance patient experience, save time in general practitioner practices and promote self-care.

AIMS AND OBJECTIVES: This project aimed to identify and understand the use and acceptability of the NHS App, to measure the extent to which it improved patient experience and influences health service access, and to understand patterns of early take-up and participation.

METHODS: Qualitative work explored experiences and views on the acceptability of the app through 60 hours of observation in general practices, document analysis (approximately 100 documents), and 62 interviews and four focus groups with patients, carers, members of the public and staff across five general practices, as well as commissioners and policy-makers. Our theoretical approach used the Non-adoption, Abandonment, Scale-up, Spread and Sustainability framework. Quantitative work examined the impact of the NHS App on the usage of primary and secondary care, using routinely collected data. Firstly, using monthly NHS App user data at general practice level in England, descriptive statistics and time series analysis explored monthly NHS App use from January 2019 to May 2021. Secondly, data on the sociodemographic characteristics of the general practitioner-registered population and their healthcare needs at the general practitioner level were used as covariates to explore inequalities in app usage. Finally, NHS App usage data were also compared with measures of patient experience of care and care access extracted from the General Practitioner Patient Survey database.

RESULTS: The qualitative analysis guided by the Non-adoption, Abandonment, Scale-up, Spread and Sustainability framework illustrated the multiple layers of complexity when introducing a constantly shifting technology into a challenging environment such as English general practice, during and after a period of considerable societal turbulence caused by the COVID-19 pandemic. Quantitative work showed there was strong adoption of the NHS App even before the onset of the pandemic, although the introduction of the COVID-19 Pass feature was linked to a fourfold increase in downloads. Analyses by sociodemographic data found higher usage in less-deprived and less ethnically diverse practices, with a generally younger population. There were 25% lower registrations in the most deprived practices (p < 0.001), and 44% more registrations in the largest-sized practices (p < 0.001). Registration rates were 36% higher in practices, with the highest proportion of registered White patients (p < 0.001), 23% higher in practices with the largest proportion of 15- to 34-year-olds (p < 0.001) and 2% lower in practices with highest proportion of people with long-term care needs (p < 0.001). Analyses by patient subgroup and by patient experience of care showed mixed findings.

LIMITATIONS: There was no opportunity to evaluate the app or the app functionality in an experimental design. The technology itself, and the context, was changing during the study, which added challenges and complexity. The quantitative analyses used aggregated data rather than individual-level linked data.

CONCLUSIONS: The NHS App was introduced into a complex and changing landscape. It has achieved strong uptake, with the COVID-19 Pass feature increasing adoption substantially. Overall uptake and use have followed an inverse deprivation gradient, influenced in particular by age, ethnicity and healthcare needs. Different functions of the NHS App have been used to different extents, and with different patterns over time.

FUTURE WORK: Further evaluation as the healthcare landscape and the functions of the NHS App evolve is warranted, including longitudinal studies using person-level data and further work on inequalities in access and use.

STUDY REGISTRATION: This study is registered as ISRCTN72729780.

FUNDING: This award was funded by the National Institute for Health and Care Research (NIHR) Health and Social Care Delivery Research programme (NIHR award ref.: NIHR128285) and is published in full in Health and Social Care Delivery Research; Vol. 14, No. 15. See the NIHR Funding and Awards website for further award information.

PMID:42170774 | DOI:10.3310/XYRV6485

Colorectal Dis. 2026 May;28(5):e70491. doi: 10.1111/codi.70491.

ABSTRACT

BACKGROUND: Magnetic resonance imaging (MRI) is central to staging and treatment planning in rectal cancer, particularly in identifying candidates for neoadjuvant therapy. Prognostic MRI features such as tumour depth (mrT), extramural venous invasion (EMVI) and tumour deposits (TDs) are increasingly recognised as markers of systemic risk, yet their reporting in randomised controlled trials (RCTs) remains unclear. This systematic review aimed to evaluate the reporting frequency, consistency and integration of pre-treatment MRI prognostic variables in RCTs assessing neoadjuvant treatment for rectal cancer.

METHODS: A systematic search was conducted across MEDLINE, EMBASE, Web of Science and CENTRAL from 01 January 2005 to 18 November 2025. RCTs evaluating neoadjuvant strategies in adult patients with resectable rectal cancer were included. Two reviewers independently extracted data on MRI variables, protocol details and trial design. PRISMA guidelines were followed.

RESULTS: Of 1,283 screened studies, 34 RCTs met inclusion criteria. All studies reported mrT, and 33 (97%) included nodal staging (mrN). mrEMVI was reported in only 10 trials (29.4%), and mrT substage was reported in 5 studies (14.7%). MRI protocols were inconsistently described, with only 5 trials specifying acquisition parameters. Only 10 studies incorporated EMVI into risk stratification frameworks. Four trials did not mandate MRI for baseline staging.

CONCLUSION: Despite MRI’s critical role in rectal cancer management, key prognostic features such as EMVI/TDs and mrT substage are underreported. This omission risks poor risk stratification, trial imbalance and misinformed clinical guidance. Standardisation of MRI reporting is urgently needed to enhance trial validity and optimise personalised treatment strategies.

PMID:42170773 | DOI:10.1111/codi.70491

Biomark Med. 2026 May 22:1-7. doi: 10.1080/17520363.2026.2654370. Online ahead of print.

ABSTRACT

AIMS: To evaluate whether cytokine profiles combined with lymphocyte count could predict infection risk in lymphoma patients undergoing chemotherapy.

PATIENTS & METHODS: This retrospective study included 110 patients with pathologically confirmed lymphoma treated at Xiangtan Central Hospital between January 2022 and December 2023. Peripheral blood samples were collected before chemotherapy to determine lymphocyte count and serum cytokine levels (IFN-γ, TNF-α, IL-6, IL-8, IL-10) using ELISA. Statistical analyses included ROC curve and Kaplan-Meier survival analysis to assess predictive accuracy and treatment outcomes.

RESULTS: Sixty-five patients (59.1%) developed infections, including bacterial, fungal, and viral types. Infected patients exhibited significantly lower lymphocyte counts and decreased cytokine levels. A combination of ≥3 decreased cytokines with low lymphocyte count provided stronger predictive power for infection than single indicators.

CONCLUSION: Reduced cytokine levels together with lymphopenia are strong predictors of infection in lymphoma patients receiving chemotherapy. Immune monitoring of cytokine-lymphocyte patterns may facilitate early identification of high-risk individuals and improve infection prevention and treatment strategies.

PMID:42170771 | DOI:10.1080/17520363.2026.2654370

Anatol J Cardiol. 2026 May 22. doi: 10.14744/AnatolJCardiol.2026.6045. Online ahead of print.

ABSTRACT

BACKGROUND: To assess the midterm clinical and echocardiographic outcomes of the Ozaki (aortic valve neocuspidization (AVNeo)) procedure performed at a single center.

METHODS: A total of 258 patients who underwent the AVNeo procedure between February 2019 and February 2025 were retrospectively analyzed. Demographic, operative, and echocardiographic data were evaluated. Patients were followed up with clinical examinations and transthoracic echocardiography at discharge, 3 months, 6 months, and annually thereafter.

RESULTS: The mean follow-up duration was 36 ± 17.5 months. The average age was 56.4 ± 15.1 years, and 31.6% were female. The mean peak pressure gradient across the aortic valve was 17.0 (11.8-20.2) mm Hg immediately after surgery, then 14.0 (11.0-19.0) mm Hg at 1 year and 17.0 (12.0-23.0) mm Hg at 3 years. The Friedman analysis demonstrated a statistically significant change in peak pressure gradient over time (χ² = 68.103, P < .001). Preoperatively, ejection fraction was 58.0 (52.0-64.0) %, increasing to 60.0 (56.0-62.0) % at 1 year and 61.0 (59.0-62.0) % at 3 years. Mild aortic regurgitation was seen in 2.7% of patients, and the reoperation rate was 0.38%. There were 3 in-hospital deaths (1.1%). Minimally invasive approaches (5 patients via a right anterior thoracotomy, 7 patients via an upper J sternotomy) were successfully performed in selected patients without needing to convert to full sternotomy.

CONCLUSION: The AVNeo procedure provides excellent midterm outcomes with low complication and reoperation rates. Its compatibility with minimally invasive approaches and avoidance of anticoagulation make it a promising, durable alternative to conventional aortic valve replacement.

PMID:42170756 | DOI:10.14744/AnatolJCardiol.2026.6045

Anatol J Cardiol. 2026 May 20. doi: 10.14744/AnatolJCardiol.2026.6183. Online ahead of print.

ABSTRACT

BACKGROUND: This study aimed to identify the optimal measurement location and technique for native T1 mapping to establish a standardized approach. We evaluated the diagnostic performance of various T1 mapping measurement approaches by comparing non-ischemic dilated cardiomyopathy (NIDCM) and hypertrophic cardiomyopathy (HCM) cohorts with a control group.

METHODS: We retrospectively reviewed patients who underwent 1.5T cardiac magnetic resonance (CMR) with standardized protocol functional sequences, T1 mapping, and late gadolinium enhancement (LGE) between November 2016 and January 2023. A total of 143 subjects (61 NIDCM, 60 HCM, and 22 controls) were grouped based on CMR findings. Native T1 mapping images were acquired in basal, midventricular, and apical short-axis slices. Regions of interest were drawn in both the whole left ventricular myocardium (SAX) and the interventricular septum. Diagnostic yield and optimal cut-off values for native T1 were investigated.

RESULTS: Native T1 values were significantly higher than the control group for six different measurement approaches (p<0.05). Basal SAX and basal septal measurements provided the highest diagnostic accuracy values for both groups. Statistical analysis revealed that T1 values could differentiate between healthy and diseased myocardium, with a diagnostic accuracy of 86% for NIDCM and 73.4% for HCM. Furthermore, T1 values correlated with measures of global systolic function and left ventricular remodeling.

CONCLUSION: Our study shows that native T1 mapping using a streamlined single-slice acquisition with a septal measurement technique achieves diagnostic performance comparable to multi-slice protocols while reducing measurement heterogeneity. This optimization facilitates a time-efficient workflow and improves patient comfort without compromising diagnostic accuracy.

PMID:42170755 | DOI:10.14744/AnatolJCardiol.2026.6183

J Sports Med Phys Fitness. 2026 Jun;66(6):787-794. doi: 10.23736/S0022-4707.26.17494-5.

ABSTRACT

BACKGROUND: Brugada Syndrome (BrS) is a hereditary channelopathy with a dynamic ECG pattern, often latent at rest. While several triggers can unmask the type 1 pattern, the influence of physical activity (PA) remains uncertain. This study investigated whether PA is associated with spontaneous type 1 ECG, its unmasking in induced cases, and the occurrence of arrhythmic events in Brugada athletes.

METHODS: We enrolled 202 BrS patients (18-55 years), collecting demographic data, PA levels, resting ECG, and 12-lead Holter. Subjects exercising ≥4 hours/week were defined as “recreational athletes” per ESC guidelines. Statistical analyses included Mann-Whitney U, Chi-squared Tests, and logistic regression (adjusted for age/sex) to explore the relationship between PA and Brugada ECG patterns.

RESULTS: Of 202 patients (155 males, median age 35.5), 48 were athletes. Athletes showed lower median heart rate at first Holter (71 vs. 75 bpm). No significant difference was found in Brugada pattern expression between groups. PA was not significantly associated with the presence of type 1 ECG (OR: 2.51, P=0.140). No arrhythmic events occurred during exercise or follow-up.

CONCLUSIONS: PA does not increase Brugada ECG expression in spontaneous or induced cases. No arrhythmic events were reported in athletes during sport or follow-up.

PMID:42170723 | DOI:10.23736/S0022-4707.26.17494-5

Vet Rec. 2026 May 22. doi: 10.1002/vetr.70804. Online ahead of print.

ABSTRACT

BACKGROUND: To our knowledge, the effect of sedation with romifidine on the grading of laryngeal function in horses has not been studied. Our objective was to examine the effects of romifidine on the grading of laryngeal function and the cross-sectional area of the rima glottis (CSARG).

METHODS: Ten horses underwent three endoscopic examinations of the larynx: once while unsedated (group R1), once after being sedated with romifidine (0.04 mg/kg intravenously; group R2) and once again, while still sedated, after receiving a repeat dose of romifidine (0.08 mg/kg intravenously, total dose; group R3). The recorded examinations were randomised and examined by three blinded reviewers who graded laryngeal function. The CSARG was measured from still images obtained during peak inspiration.

RESULTS: Sedation had no significant effect on the endoscopic laryngeal function grade assigned. There was no statistical difference in CSARG between Groups R1 and R2 (p = 0.164). Significant reduction in CSARG was noted between Groups R1 and R3 (p < 0.001) and Groups R2 and R3 (p = 0.045).

LIMITATIONS: The low number of horses examined may have resulted in the analyses being insufficiently powered. As such, the findings should be interpreted cautiously.

CONCLUSION: A dose of 0.04 mg/kg romifidine administered intravenously had no significant effect on horses’ laryngeal function grade and CSARG.

PMID:42170716 | DOI:10.1002/vetr.70804

Hum Vaccin Immunother. 2026 Dec;22(1):2661114. doi: 10.1080/21645515.2026.2661114. Epub 2026 May 22.

ABSTRACT

Limited education and healthcare access are major contributors to Human Papillomavirus (HPV) vaccination disparities among African American adolescents. The Immunization Neighborhood (IN) involves enhanced communication and collaboration among providers to address people’s needs by expanding access points and education to increase vaccination. Because needs of immunization providers and parents to effectively collaborate are unknown, this study explored the feasibility of and processes needed for IN utilization across key partners: pediatricians, pharmacists, school nurses, health department staff, and African American parent-child dyads. We conducted a semi-structured interviews in a qualitative, descriptive study with a purposive sample of 30 African American parent-child dyads and 37 immunization providers in Middle Tennessee. The Consolidated Framework for Implementation Research (CFIR) guided inductive-deductive thematic analysis. We identified facilitators and barriers to IN utilization for four CFIR domains: (1) Intervention characteristics; (2) Outer setting; (3) Inner setting; and (4) Individual characteristics. Across CFIR domains and partners, key perceived facilitators include convenience, accessibility, extended hours, partner coordination, and existing subsidized programs. Perceived barriers included fragmented vaccination tracking, limited vaccine registry interoperability, existing policies, and lack of knowledge and trust in immunization providers and settings. Our study highlights the need for multi-component, collaborative, and patient-centered strategies for IN implementation to improve adolescent HPV vaccination rates, especially among African American adolescents. Policy changes to reduce out-of-pocket expenses, increase insurance coverage, require reporting to state immunization registries, encourage collaborative practices, and allow HPV vaccine delivery in schools could potentially enhance IN impact.

PMID:42170715 | DOI:10.1080/21645515.2026.2661114