Archives of Clinical and Biomedical Research
○ Fortune Journals
Preprints posted in the last 7 days, ranked by how well they match Archives of Clinical and Biomedical Research's content profile, based on 28 papers previously published here. The average preprint has a 0.07% match score for this journal, so anything above that is already an above-average fit.
Sevilla-Parra, G.; Bravo-Garcia, F.; Mier y Teran Guevara, M.; Montes-Garcia, A.; Schäfer, A.; Ochoa-Rodriguez, N.; Bienvenu Caballero, M.; Gonzalez Zenteno, S. G.; Pena-Ayala, A.; Tinajero-Nieto, L.; Torres-Valdez, E.; Martinez, D.; Hernandez-Ledesma, A. L.; Medina-Rivera, A.; Alpizar-Rodriguez, D.
Show abstract
Objective: To characterize pregnancy outcomes and menstrual irregularities in Mexican women with systemic lupus erythematosus (SLE) and identify clinical factors associated with adverse pregnancy outcomes and early-onset menopause. Methods: We conducted a cross-sectional study of women with SLE enrolled in the Mexican Lupus Registry (LupusRGMX) between May 2021 and September 2024. Clinical and reproductive data were collected using standardized questionnaires. Menopause was defined as the absence of menstruation for [≥]12 consecutive months, and early menopause as onset before age 40. Univariable and multivariable logistic regression analyses were used to identify factors associated with pregnancy complications and early menopause. Results: A total of 210 women were included. Median age was 38 years (IQR 29-46) and median disease duration was 4 years (IQR 1-10). Among women with a history of pregnancy (47%), full-term delivery predominated (61%), while pregnancy loss occurred in 26% and preterm delivery in 13%. Pregnancy complications were reported in 9.6%, most commonly preeclampsia (6.7%). Younger maternal age was independently associated with pregnancy complications (OR 0.89, 95% CI 0.83-0.95) and adverse outcomes (OR 0.95, 95% CI 0.92-0.98). Higher disease activity was associated with complications in univariable analysis. Most pregnancies (68.3%) occurred before diagnosis. Early menopause was observed in 6.2% and independently associated with longer disease duration and older age. Conclusion: Younger maternal age was independently associated with adverse pregnancy outcomes, whereas disease activity showed an association in univariable analysis. Most pregnancies occurred prior to SLE diagnosis. Early menopause was associated with longer disease duration, suggesting impact of cumulative disease burden on ovarian function.
Uskova, N. G.; Gombolevskiy, V. A.; Chernina, V. Y.; Burenchev, D. V.; Akhaladze, D. G.; Panina, E. V.; Karachunskiy, A. I.; Tereschenko, G. V.; Goncharov, M. Y.; Soboleva, E. A.; Konopleva, E. I.; Bydanov, O. I.; Plekhov, S. Y.; Grachev, N. S.
Show abstract
Background. Lung metastases in osteosarcoma (OS) are the main cause of the death. The accuracy of the diagnosis of nodules by computed tomography (CT) of the lungs is critically important for determining the disseminated stage of the disease and planning surgical treatment. The use of artificial intelligence (AI) in the search for lung nodules increases the accuracy of diagnosis and reduces the chance of missing metastases. Objective: to evaluate the accuracy of lung nodules diagnosis in adolescents with OS using AI. Methods. A retrospective assessment of CT scans of adolescents with OS was performed. A pathological nodule with an average size of [≥]4 mm was considered a target finding. The diagnostic accuracy of an AI algorithm previously trained on an adult dataset was evaluated, and the number of false positives (FP) and false negatives (FN) was determined. Sensitivity, specificity, accuracy, area under the ROC curve (AUC), positive predictive value, negative predictive value, and F1-measure were calculated. Based on the obtained results, the effectiveness of the algorithm was assessed. Results. 248 CT scans of adolescents with OS were evaluated. The following results were obtained: in 5 cases, the AI algorithm showed a FP result (2.02%), in 34 cases, it showed a FN result (13.71%), and in 209 cases, a correct result (both true positive and true negative) (84.27%). The diagnostic accuracy of the algorithm was 0.843 (95% CI 0.794-0.887). The application of the AI algorithm in the practice of an X-ray doctor in a specific clinical task would allow to increase the sensitivity from 0.805 to 0.891, while ensuring an absolute decrease in the number of FN results by 8.59% and a relative decrease by 44%. Conclusion. The obtained results confirm the practical value of the application of the AI algorithm and justify the implementation of AI-assisted systems in the diagnostic protocols for lung metastases in adolescents with OS.
Jean, A.; Merceron, A.; Le Saux, A.; Mercier, E.; Benillouche, P.
Show abstract
This study aims to assess women's perceptions of artificial intelligence (AI) used in breast cancer screening in France by examining their knowledge of AI and the barriers to their participation in organized screening. The results of a survey conducted in June 2025 among a national sample of 2000 women (aged 40-75) reveal limited participation and persistent concerns among women. Nevertheless, despite a low awareness of specific AI applications, a large majority of the women surveyed are very favorable to the use of AI in breast cancer diagnosis, even considering it a lever to increase screening participation.
Mvula, M.; Amin, A.; Patil, M. S.; Valentine, G.; Mukarwego, B.; Wagner, S.; Dumbuya, I.; Lou, L.; Sanni, U.; Hansen, A.
Show abstract
Background Sierra Leones neonatal mortality rate is among the highest in the world. Koidu Government Hospital opened a Special Care Baby Unit (SCBU) in 2020. To increase knowledge of the SCBU health care providers (HCPs), a neonatal curriculum was implemented to facilitate HCP education on management of neonatal conditions. The aim of this study was to understand the effect of the curriculum on knowledge acquisition and the perception of the teaching methodologies among participating HCPs. Methods US-based mentors facilitated a two-phase, flipped classroom, virtual neonatal medicine curriculum between October 2024 and April 2025, followed by one-week in-person education sessions with SCBU HCPs. With each phase, participants completed pre- and post-test educational assessments. At the end of the curriculum, they completed a subjective assessment to capture perceptions related to the quality of teaching methodologies integrated within the curriculum. Wilcoxon signed rank test was used to assess pre- versus post-test change. Descriptive statistics were used to analyse the subjective assessment. Results Thirty-eight participants completed the educational assessments, 30 (79%) took all four pre- and post-tests; 25/38 (65.8%) were female, 27 (71.1%) were nurses. Median correct answers for both phases increased from the pre- to post-test for individual learners [Phase 1, pre-test 14/27 (51.9%), post-test 23/27 (85.2%), p<0.001], [Phase 2, pre-test 14/25 (56.0%), post-test 23/25 (92.0%), p <0.001]. Thirty-one participants completed the subjective assessment, of whom 96.8% (30/31) rated the curriculum to be "very effective." All 31 participants indicated that the in-person instruction was "very helpful." Through open text responses, they offered valuable insight into challenges, strengths, and next steps. Conclusion This neonatal curriculum resulted in significantly increased knowledge and was well regarded. Adapting this curriculum or similar curricula show promise to improve the quality of care for small and/or sick neonates in low resource settings.
Sahal, K.; Amin, S. M. A.; Mostafa, T.; Wang, S.; Colucci, B.; Shafoyat, M. U.; Yuan, Z. -m.; Cheng, G.
Show abstract
Mosquito-borne diseases continue to pose significant public health challenges worldwide, particularly in densely populated regions of South Asia and parts of North America experiencing increasing vector prevalence due to climate and environmental changes. Commercial mosquito repellents are widely used as a primary preventive measure; however, their efficacy, safety, and public health impacts vary depending on formulation, active ingredients, environmental conditions, and user practices. This study presents a comparative evaluation of commonly used mosquito repellent products in South Asia and North America, including coils, vaporizers, sprays, creams, and Natural repellents. The research aims to assess repellent efficacy against major mosquito vectors, evaluate potential health and respiratory effects associated with prolonged exposure, and analyze consumer awareness and usage patterns across different regions. Laboratory-based efficacy testing and field observations were conducted to compare protection duration, repellency rate, and environmental performance under varying climatic conditions. Safety assessments included analysis of chemical composition, indoor air quality impact, and reported adverse health symptoms among users. The findings indicate significant differences in effectiveness and safety profiles among product categories and geographical regions. Synthetic repellents generally demonstrated higher repellency duration, while herbal formulations showed improved safety and environmental compatibility. The study highlights the importance of standardized evaluation protocols, regulatory oversight, and public awareness in promoting safe and effective mosquito control strategies. These findings may support policymakers, healthcare professionals, and manufacturers in improving mosquito repellent technologies and reducing the burden of mosquito-borne diseases globally.
Janetzki, J.; Modi, N.; Varney, B.; Pratt, N.; Ward, M.; Wiese, M.; Lim, R.; Kalisch Ellett, L.
Show abstract
Background Fertility rates in Australia have been declining over recent decades, reaching a record low total fertility rate of 1.48 births per woman in 2024. Concurrently, vasectomy remains widely accessible and increasingly normalised as a permanent contraceptive option. Despite extensive commentary on falling birth rates, no contemporary Australian study has examined vasectomy rates relative to birth rates over time. We aimed to compare population level vasectomy and birth rates across Australian jurisdictions and age groups. Study design Nationwide retrospective time-series study. Retrospective population-based study using Medicare Benefits Schedule item 37623 to identify vasectomy procedures performed between July 2015 and December 2024. Rates were calculated per 100,000 male population using quarterly Australian Bureau of Statistics (ABS) population estimates and summarised as rolling 12-month averages. Birth rates were derived using matched ABS data for women across equivalent age strata (18-24, 25-34, 35-44 years). Results: Vasectomy rates increased nationally from 32 per 100,000 in 2016 to 55 per 100,000 in 2023 before declining modestly in 2024. Birth rates declined from 5,200 to 3,800 per 100,000 over the same period. Trends were consistent across states and age groups, with the greatest vasectomy uptake in men aged 35-44 years. Conclusion: Australia is undergoing a demographic shift characterised by rising vasectomy uptake and declining fertility. While vasectomy rates remain lower than birth rates, their convergence signals changing reproductive intentions and contraceptive behaviours. Ongoing monitoring of permanent and long-acting contraception is essential to understand evolving population dynamics and inform reproductive health policy.
Yi, B.
Show abstract
In spite of well-established global immune landscape, SARS-CoV-2 is still able to further spread and continue causing infection waves. The current understanding about the reason behind is limited, and it is still difficult to predict the evolution or spreading tread of SARS-CoV-2. Therefore, it is necessary to investigate whether the establishment of population immunity has changed the virus evolution or spreading pattern. In this investigation, one overall analysis of the SARS-CoV-2 spreading in the past several years have been carried out through one thorough genomic epidemiology study, with Germany being chosen as one representative location in view of the systemic efforts for genomic surveillance. The growth advantage of a few predominant variants in its early spreading period has been evaluated through a logistic regression model. The results have revealed that the major circulating SARS-CoV-2 variants since 2023 are mainly derived from the Omicron BA.2 family. Since middle of 2024, most predominant variants were produced primarily through recombination, indicating that the evolution derived from recombination might be the major driving force for the continuous spread of SARS-CoV-2 despite the existence of population immunity. Furthermore, the lower growth advantage of recently emerged variants might possibly lead to a tread of reduction in the frequency of infection wave. The information revealed from this investigation suggests that although short-term spreading tread can be affected by specific virus feature as well as local immunity landscape, the long-term spreading tread is mainly decided by the genomic diversity of the viruses, and can be predicted through phylogenetic and genomic epidemiology investigation. The results have emphasized the importance of maintaining the efforts for genomic surveillance of SARS-CoV-2, which is essential from both medical and research perspectives.
Muddiman, R.; Donoghue, P.; Gomez Lemus, J.; Doherty, A. S.; Boland, F.; McCarthy, C.; Moriarty, F.
Show abstract
Purpose In deprescribing studies, a prescription-free gap is typically used to determine if patients discontinued their treatment. An appropriate gap depends on the typical time between prescriptions during continued use. This work aims to characterise the interval between prescriptions of chronic drugs using different methods for a cohort of older people in primary care in Ireland. Methods The empirical prescription interval was analysed for 38,154 patients for the twenty most common drug classes and the association between covariates and the interval was analysed using a multi-level model. Estimates were also compared to those obtained from the parametric waiting time distribution (pWTD) approach. Results Available covariates had consistent relationships with prescription intervals across drug classes. For example, each additional prescription issue was associated with an increase in the interval by 5.0 (NSAIDs) to 19.7 days ("Other antidepressants"). Full public health cover was associated with a -29.0 day (inhaled adrenergics) to -11.0 day (opioids) change relative to partial cover, while other/private cover had a -17.9 day (benzodiazepines and associated drugs) to -7.1 day (SSRI and SNRIs) change relative to partial cover. The pWTD also produced consistent estimates of the population interval for most drugs. Conclusions The interval varied substantially within drug classes, due to a mixture of patient, practice and unmodelled factors. Variation between practices was effectively explained, with residual variation between patients and within patients. The pWTD approach is useful for describing complex distributions of intervals, and may be more appropriate for inferring a gap than summarising truncated data.
Ramadan, I.; Hariri, M.; Shalakhti, O.; Alawa, J.; Godier-Furnemont, A.; Traboulsi, A. A.-R.; MOWAFI, H.
Show abstract
Abstract: Background: Acute war-related traumatic wounds present significant challenges due to significant soft-tissue damage/loss, risk of contamination, limited access to antimicrobial therapy, need for delayed closure, and limited access to surgical and wound care. Negative Pressure Wound Therapy (NPWT) has been used effectively to reduce the volume of soft-tissue defects, edema, and infection in traumatic wounds, and to promote growth of healthy granulation tissue. However, conventional NPWT devices are costly and electricity-dependent, limiting their utility in conflict settings. Methods: This retrospective cohort study evaluated the use of PragmaVAC, a manually operated, electricity-independent NPWT device, in patients across three hospitals in Gaza with conflict-related wounds that were deemed by the treating surgeon to be unsuitable for primary closure. Secondary analysis was performed of clinical records of patients treated with the PragmaVac NPWT device to assess ability to achieve a primary outcome of wound bed with healthy granulation tissue, time to primary outcome, and rates of adverse effects. Secondary outcome of wound closure and closure method was also assessed. Results: Treatment with PragmaVAC manual NPWT was prescribed to 88 patients. Of those, 27 (31%) had incomplete documentation of their wound healing or were lost to follow up. The remaining 61 (69%) had complete documentation of their wound healing, complications, and final outcome with 59 (67%) successful closure and 2(2%) failure. Conclusion: The use of the PragmaVAC NPWT device provided a safe, effective wound care option to achieve wound closure for large conflict-related traumatic wounds in resource-limited settings. Future studies may further evaluate such use through prospective trials, evalutions of patients' experiences with manual NPWT, and evaluating outcomes beyond primary wound closure to include medium- and long-term complications, cosmesis, and cost of therapy.
Jiang, X.; Fu, J.; Qu, C.; Huang, J.; Hu, X.
Show abstract
To explore the safety of combined use of lidocaine/prilocaine aerosol and condoms of different materials, this study conducted compatibility tests between them. By observing changes in various physical properties of condom materials after exposure to the aerosol, the compatibility of different polymer materials with the aerosol was analyzed.The results showed that within 15 minutes of exposure to the aerosol, there was no significant difference in all physical properties of natural rubber latex condoms compared with the blank control group (P>0.05), indicating they can be used together. In contrast, obvious changes in physical properties of polyurethane condoms occurred within 5 minutes of exposure (P<0.05), and their performances failed to meet industrial application standards, so combined use is strictly prohibited.This study clarifies the compatibility differences between two mainstream condom materials and lidocaine/prilocaine aerosol, providing experimental evidence and theoretical references for rational matching in clinical and daily use as well as avoiding potential safety risks.
Vanbrabant, E.; Roefs, A.; Goossens, G.; Lemmens, L.; Shapovalova, Y.; Hesen, J.; Mironiuc, C.
Show abstract
Background: Obesity is globally recognized as a complex, multifactorial chronic disease, with biological, psychological, environmental and behavioural factors involved in both disease pathogenesis and maintenance. Although previous group-based studies demonstrated involvement of each of these factors, there is large inter-individual variability in the factors contributing to disease development as well as intervention outcomes, causing limited translatability to the individual level. This heterogeneity in treatment effectiveness might be due to differential causal and maintenance factors of obesity. To enable the transition from a one-size-fits-all approach to a more personalized approach for individuals with overweight or obesity, this study aims to investigate if and how the degree of weight loss and changes in daily life behaviour after a combined lifestyle intervention depend on individual baseline profiles comprising of person characteristics, biological, psychological, environmental and behavioural factors. Methods: This study will include 600 individuals varying in BMI, 200 participants with a healthy BMI (18.5-24.9kg/m2), 200 with overweight (BMI 25.0-29.9kg/m2), and 200 with obesity (BMI [≥]30.0kg/m2). For all participants, a comprehensive individual baseline profile is created, including person characteristics, biological, psychological, environmental and behavioural factors. A clustering method is applied to identify clusters of participants with similar characteristics. Next, we examine if and how these clusters are linked to bodyweight indicators measured at baseline, and how they relate to daily lifestyle behaviour, as measured by ecological momentary assessment (EMA) using a smartphone app and sensor technology (3-week measurements). Individuals with overweight or obesity will be randomized to the intensive lifestyle intervention or a lifestyle information condition, to determine if treatment response can be predicted based on cluster characteristics, how daily lifestyle behaviour changes after an intervention, and how changes in daily lifestyle behaviour relate to treatment response. Discussion: The End of Average study aims to characterize a large set of individuals varying in body weight to predict intervention effectiveness measured as changes in body weight indicators and in daily lifestyle behaviours. If reliable predictors of treatment success can be identified, these can be applied in personalized lifestyle interventions to improve lifestyle behaviour, body weight management and overall health.
Nocon, K.; Swenson, K.; Bothwell, S.; Howell, S.; Davis, S.; Ikomi, C.; Ross, J.; Tartaglia, N.
Show abstract
Background: 48,XXYY syndrome is a rare sex chromosome aneuploidy (SCA) characterized by neurodevelopmental deficits and medical comorbidities. The limited information available in the literature is almost exclusively limited to postnatally diagnosed cases. This study aims to describe the early medical and developmental features of prenatally identified 48,XXYY infants, with comparisons to 47,XYY, 47,XXY cohorts, and typical populations, as well as previously reported postnatally diagnosed 48,XXYY cases. Methods: The eXtraordinarY Babies Study prospectively follows children prenatally identified to be at high risk for SCA with annual medical and neurodevelopmental evaluations. Data presented herein include the prevalence of medical conditions, developmental milestones, developmental and adaptive functioning assessment scores, and therapy utilization in participants confirmed to have 48,XXYY. Comparisons were made between this cohort and the typical population, infants with 47,XYY and 47,XXY also enrolled in the eXtraordinarY Babies Study, and a 2008 cohort of individuals postnatally identified 48,XXYY. Results: Infants with 48,XXYY exhibited a range of early medical features, including high rates of feeding and GI disorders (breastfeeding difficulties, gastroesophageal reflux, and eosinophilic esophagitis), allergic disorders (food allergies and environmental allergies), and hypotonia. Developmental and adaptive functioning scores indicated delays in motor, communication, and social domains, with nearly all infants receiving speech therapy, physical and/or occupational therapy. Comparisons with the 47,XYY and 47,XXY cohorts revealed more medical and developmental challenges in the 48,XXYY group, however there was variability and some overlap with both the general population and sex chromosome trisomy conditions. Additionally, comparison to the 2008 postnatally identified 48,XXYY cohort indicated that while prenatal diagnosis allowed for earlier intervention, developmental outcomes in the first years of life were similar between the two groups. Conclusions: 48,XXYY diagnosed prenatally facilitates early monitoring, anticipatory guidance, and proactive referrals for medical evaluations and intervention, given developmental delays and medical challenges are more common in infancy and early childhood compared to the general population and trisomy SCAs. These findings provide valuable insights for genetic counselors and healthcare providers, emphasizing the spectrum of medical and developmental findings and importance of early and proactive care to support individual outcomes. Prospective study of this prenatally identified cohort will provide important natural history and phenotypic variability in XXYY, as well as identification of predictors of health and developmental outcomes.
Tang, W.; Dong, Y.; Chen, J.; Yang, Y.; Huang, H.; Yu, M.; Zhu, J.; Shen, G.
Show abstract
Background. Tethered cord syndrome (TCS) is classically associated with a low-lying conus medullaris, yet many surgically treated children have a normally positioned conus (occult TCS). Large-scale normative data on conus position in children, and the diagnostic value of quantitative conus assessment, are limited. Purpose. To establish a large-cohort reference distribution for conus medullaris termination level in children, to quantify conus position in children surgically treated for presumed (occult) TCS, and to test whether automated conus segmentation and radiomics can distinguish TCS from normal. Materials and Methods. In this retrospective single-center study, conus termination level was extracted from structured radiology reports of consecutive pediatric lumbosacral MRI examinations and encoded numerically (L1 = 1, L2 = 2, etc.). Children surgically treated for tethered cord were identified by linkage to an operative registry (name and date of birth) and restricted to preoperative examinations. A deep-learning model (nnU-Net) was trained for conus segmentation on axial T2-weighted images. IBSI-compliant radiomic features were extracted; reproducibility was assessed by intra- and inter-observer intraclass correlation (ICC). A case-control radiomics analysis used batch-only ComBat harmonization and cross-validated L1-penalized logistic regression; discrimination was compared with conus level by paired bootstrap. Results. Among 9,808 examinations with a parseable conus level (98.5% of reports; parser validated against dual blinded annotation, 99.4% agreement, weighted kappa 0.946), the conus terminated in the L1 region in 85.7% and the L2 region in 14.3% of the reference cohort (postoperative examinations excluded, n = 9,655); a low-lying conus (>=L3) occurred in only 0.05% (5/9,655), and remained rare (0.14%, 14/9,808) including operated examinations (median L1; mean 1.13 +/- 0.33). A slightly more cephalad position was seen with increasing age (negligible correlation). Among 475 preoperative children surgically treated for tethered cord, 99.6% had a normally positioned conus (<=L2) and only 0.4% were low-lying. Automated conus segmentation achieved a held-out Dice of 0.85. Conus radiomics likewise did not distinguish TCS from controls (equivalence-tested null; full segmentation/radiomics pipeline reported in the companion methodological paper). Conclusion. In children, the conus medullaris terminates at L1-L2 in more than 99% of cases and is normally positioned in virtually all children surgically treated for TCS. Within the conus, neither position nor texture (radiomics) identifies tethered cord; whether the filum terminale carries a diagnostic signal was not tested here.
Saad, A. A.; Murthi, S. B.; Boctor, E. M.; Teeter, W. A.; Seam, N.
Show abstract
The increasing availability of portable ultrasound systems motivates exploration of novel approaches to respiratory signal assessment. In this in-vitro study, we investigate whether pulsed-wave (PW) Doppler ultrasound can capture structured spectral patterns from replayed lung sound recordings. Digitized respiratory sounds were replayed through a tissue-mimicking ultrasound phantom, generating 1,478 PW Doppler spectral images from recordings associated with healthy subjects and several externally labeled disease categories. Exploratory classification experiments using a ResNet-18 architecture demonstrated that these Doppler representations contain learnable differences under controlled conditions. These findings motivate further investigation into PW Doppler as a potential representation of respiratory acoustics.
Pollo, B. A. L. V.; Perias, G. A.; Aguimatang, R. H.; Espiritu, A. P.; Ching, D.; Idolor, M. I.; King, R. A.; Climacosa, F. M.; Caoili, S. E.
Show abstract
Introduction: Synthetic oligopeptides provide a rapid and cost-efficient approach to developing antibodies and diagnostics for emerging viral variants. Methods: This study computationally and experimentally characterized a synthetic peptide analog of the SARS-CoV-2 spike subdomain 2 major disulfide loop (SD2MDL), designated S621 (CPVAIHADQLTPTWRVYSTC). Binding affinity was computationally estimated using the Heuristic Affinity Prediction Tool for Immune Complexes (HAPTIC), while experimental validation was performed using enzyme-linked immunosorbent assay (ELISA) with rabbit-derived antipeptide antibodies. Clinical diagnostic accuracy testing was done using plasma samples from RT-PCR-confirmed COVID-19 patients and pre-COVID-19 controls. Results: S621 demonstrated nanomolar binding affinity (Kdapp = 1.14 nM) and high avidity (3.67 nM), closely matching HAPTIC predictions (3.54 nM). Diagnostic evaluation yielded a sensitivity of 89.92% and specificity of 27.79%, corresponding to an overall accuracy of 71.79%. Discussion: These findings demonstrate that a single synthetic peptide derived from a conserved spike subdomain can function as a high-affinity surrogate for full-length antigens, supporting its potential application in rapid peptide-based immunodiagnostics.
Verbrugge, J.; Fiallos, K.; Cook, L.; Miller, M.; Head, K. J.
Show abstract
As genetic testing becomes increasingly integrated into Parkinson disease (PD) research, including targeted testing for variants in LRRK2 and GBA1, the return of individual research results is becoming more common. However, limited qualitative data exists regarding how research participants experience genetic results disclosure and post-test genetic counseling in PD research settings. We conducted semi-structured qualitative interviews with participants (n=13) enrolled in the Parkinson Precision Medicine Initiative (formerly Parkinson Progression Markers Initiative; PPMI) who had received PD-related genetic test results and post-test genetic counseling. Interviews were conducted 1 to 3 weeks following result disclosure and analyzed using thematic analysis with a primarily deductive coding approach informed by study aims and inductive identification of emergent themes. Four primary themes were identified: (1) personal connection and motivations for participation, (2) centrality of result disclosure and information preferences, (3) emotional experiences and support needs, and (4) communication quality and alignment with participant needs. Overall, our findings underscore the importance of person-centered genetic counseling within PD research. As return of genetic and biomarker results in research and clinical trial contexts expand, thoughtful integration of relational, informational, and communication-focused practices will be essential to support participant engagement and trust.
Krooss, S. A.; Yang, T.; Yuan, Q.; Drick, N.; Sgodda, M.; Held, J.; Behrendt, P.; Hartleben, B.; Koczulla, R.; Ma, X.; Liu, Y.; Wedemeyer, H.; Janciauskiene, S.; Di Donato, N.; Cantz, T.; Wang, E.; Wu, Y.; Hoeper, M.; Xia, Q.; Ott, M.
Show abstract
Background: Alpha-1 antitrypsin deficiency (AATD) caused by the PI*ZZ mutation (Glu342Lys) results in hepatic accumulation of misfolded AAT-Z protein and reduced circulating AAT levels, leading to progressive liver disease and emphysema. Gene correction therapy represents a potentially curative approach by directly correcting the underlying genetic defect. We report the first case of successful hepatic gene correction with early histological and functional assessment. Methods/Case presentation: We report the case of a 66-year-old male patient with PI*ZZ AATD who underwent gene correction therapy within the YOLT-202 phase I/Ia clinical trial (clinical trial.gov ID NCT07193615). Ten weeks post treatment a liver biopsy was performed to re-evaluate pre-existing F2 liver fibrosis as measured by elastography before entering the study. Serum samples allowed functional assessment of the AAT-mediated elastase inhibition. Results: Liver biopsy did not show signs of hepatic inflammation and demonstrated 54% (Sanger) and 57% (Illumina) gene correction rate of the PI*ZZ variant on the DNA level with no bystander edits or off-target effects. Following a transient elevation of transaminases during the early post-treatment period, liver enzymes normalized. Monthly serum AAT measurements demonstrated biologically active and stable therapeutic levels throughout follow-up. Conclusions: This case demonstrates efficient and precise hepatic gene correction without concerning histological alterations and with substantial improvement of functional parameters, supporting the feasibility and safety of gene editing approaches for AATD.
Njapdze, R. K.; Ekerette, I. B.
Show abstract
Introduction: Malaria, primarily transmitted by Anopheles mosquitoes, remains a major public health concern in Maiduguri, Borno State, Nigeria. While conventional control methods (e.g., ITNs) face challenges due to insecticide resistance and accessibility constraints, many communities rely on locally sourced natural products. This study aimed to assess the prevalence, usage patterns, and associated factors of these natural alternatives. Methods: A cross-sectional survey was conducted across three purposefully selected communities in Maiduguri (Mairi, Furi, Lagos Street). A total of 450 household heads were interviewed using a structured questionnaire, collecting data on socio-demographics, specific natural products used, method of application, frequency, and perceived efficacy. Data were analyzed using descriptive statistics and binary logistic regression. Results: Overall usage prevalence of natural products was high at 68.4%. The most common products identified were Neem (Azadirachta indica) extract (45.9%) and burnt Lemon Grass (Cymbopogon citratus) (31.2%). Usage pattern was predominantly indoor fumigation (burning), and over 70% of users prepared the products crudely at home. Logistic regression revealed that rural residence (Odds Ratio (OR): 2.1; p<0.01) and low education level (OR: 1.8; p<0.05) were significant independent predictors of higher natural product reliance. Conclusion: Natural products constitute a widely adopted, community-driven vector control method in Borno State. The high prevalence and association with vulnerable populations suggest an urgent need to standardize the preparation and application of these products for potential integration into regional malaria control programs. Keywords: Anopheles, Adulticides, Borno State, Malaria, Natural Repellents, Vector Control, Usage Pattern.
Munyangi wa Nkola, J.; Akilimali Zalagile, P.; Lukuke Mbutshu, H.; Kabala Munyemo, S.; Ramazani Bin Eradi, I.; CAMARA, A.
Show abstract
Background: Artemisinin-based combination therapies remain the mainstay of malaria control strategies; nevertheless, the advent of genetic markers linked to partial artemisinin resistance in Plasmodium falciparum has elicited substantial concern across African settings. To assess the prevalence, geographic distribution, and clinical associations of these molecular markers, we undertook a systematic review and meta-analysis of observational cohort studies.Methods: We conducted a search of cohort studies published between January 2015 and June 2025, following PRISMA 2020 guidelines. We queried databases including PubMed/MEDLINE, Scopus, Web of Science, and CINAHL. Eligibility required prospective enrollment of patients, longitudinal monitoring (therapeutic efficacy studies), and pfkelch13 propeller domain genotyping.Results: A meta-analytical synthesis of 888 isolates from six core prospective cohorts revealed a pooled prevalence of 6% (95% CI: 2.1%-11.8%) for validated pfkelch13 mutations. A profound geographic dichotomy was identified: while West and Central African cohorts maintained a 0% prevalence, East African hotspots showed significant expansion, with prevalence reaching 12.8% in Rwanda and up to 25.5% in Northern Uganda; high statistical heterogeneity (, ) reflects this biological divergence. Conclusions: These findings highlight the established and expanding presence of artemisinin partial resistance in East Africa. Standardized surveillance is essential to adapt malaria control policies across the continent. Keywords: Africa; artemisinin resistance; clinical indicators; pfkelch13 gene; molecular markers; partial resistance; Plasmodium falciparum.
Hines, A. G.; Mathis, S. M.; Johansson, M. A.; Biggerstaff, M.; Reed, C.; Borchering, R.
Show abstract
Since the U.S. 2013/14 influenza season, the CDC's FluSight Challenge has provided a platform for evaluating influenza forecasting models and fostering collaboration across institutions. The Challenge aims to improve the science and enhance the utility of infectious disease forecasts for public health decision making. We analyzed ten years of submitted forecasts (2014/15-2019/20 (influenza-like illness seasons) and 2021/22-2024/25 (hospital admissions seasons)) across a range of model types, including statistical, mechanistic, machine learning, and hybrid models. Influenza-like illness (ILI) forecasts were evaluated using the exponentiated logarithmic score (skill metric) while hospital admissions forecasts were evaluated using the log transformed relative Weighted Interval Score. Corresponding potential performance differences were assessed using Wilcoxon rank-sum tests, and associations with team participation history were evaluated using Spearman's rank correlation. Model performance varied by season, and no single model type consistently outperformed others. In ILI seasons, statistical models generally performed better than mechanistic and machine learning models, though consistent differences were not observed in more recent hospital admissions seasons. Ensemble forecasts showed better overall performance across seasons, and the CDC's FluSight ensemble ranked among the top-performing forecasts every year. We also found a positive correlation between forecast accuracy and the number of years a team participated in the Challenge, with statistically significant associations in four seasons. These findings highlight the benefits of ensemble approaches and sustained engagement in improving forecasting performance, while also underscoring the continued value of forecast evaluation before and following the COVID-19 pandemic. Insights from the FluSight Challenge can guide future infectious disease forecasting efforts and support more effective public health preparedness.