Category: Nevin Manimala

Genet Med. 2026 May 27:102614. doi: 10.1016/j.gim.2026.102614. Online ahead of print.

ABSTRACT

PURPOSE: Variants in SMARCB1, encoding a core subunit of the BAF chromatin remodeling complex, are associated with intellectual developmental disorders, particularly Coffin-Siris Syndrome (CSS), though the genotype-phenotype spectrum remains incompletely defined. This study aims to assess correlations between SMARCB1 variant location and phenotypic manifestations.

METHODS: We analyzed 31 individuals with pathogenic or likely pathogenic SMARCB1 variants using multimodal approaches, integrating clinical, structural, and machine learning analyses. We predicted variant effects via 3D protein modelling, assessed facial similarity using GestaltMatcher, and conducted phenotype-driven genotype prediction using machine learning classifiers.

RESULTS: Variants clustered within N-terminal (winged-helix/SNF5) and C-terminal (αC-helix) regions. C-terminal CSS variants were associated with more severe speech delay, microcephaly and cleft palate, exhibiting stronger facial gestalt similarity. XGBoost achieved 96.7% accuracy in classifying variant location from phenotype alone. While gestalt is a key feature delineating variants at the αC helix, overall clinical features have greater predictive power for N-terminal variants.

CONCLUSION: Using detailed phenotyping and machine learning algorithms we identify differences between individuals with N-terminus and C-terminus SMARCB1 variants. Our study underscores the importance of multi-modal assessments for genotype-phenotype associations, suggesting integrated modelling can provide insights into SMARCB1 variant effects and biological function, with potential for improvement of diagnostic strategies.

PMID:42206491 | DOI:10.1016/j.gim.2026.102614

J Adolesc. 2026 May 28. doi: 10.1002/jad.70190. Online ahead of print.

ABSTRACT

INTRODUCTION: Socioeconomic disparities in academic achievement are well-documented in France and emerge early in schooling. Yet, a subset of students from socioeconomically disadvantaged backgrounds attains high academic performance, challenging deterministic accounts of educational inequality. Academic resilience offers a useful framework to identify these students, but little is known about the socio-emotional characteristics that distinguish resilient learners during early adolescence, a critical developmental period.

METHODS: Using data from a nationally large cohort of 8934 French students (mean age = 11.50 years; 51% girls), we adopted a definition-based approach to academic resilience. Learner profiles were constructed by cross-classifying tertiles of family socioeconomic status (SES) and academic achievement assessed in Grade 7, yielding nine SES × achievement profiles. Intrinsic motivation, extrinsic motivation, and academic self-efficacy were measured via student self-report in Grade 6. Bayesian analyses of covariance were conducted to compare socio-emotional profiles across groups, controlling for age and sex.

RESULTS: Decisive evidence emerged for differences in intrinsic motivation and self-efficacy across learner profiles. Academically resilient students (low SES, high achievement) reported substantially higher intrinsic motivation and self-efficacy than disadvantaged low achievers, and levels statistically indistinguishable from socioeconomically advantaged high achievers. Self-efficacy showed the strongest differentiation across profiles and the steepest gradient across achievement levels. In contrast, extrinsic motivation exhibited weaker and less consistent differences between groups.

CONCLUSIONS: These findings indicate that academic resilience in early adolescence is characterized by socio-emotional profiles marked by strong self-efficacy and elevated intrinsic motivation, comparable to those of advantaged high achievers. By highlighting psychological resources that differentiate resilient from non-resilient students under conditions of socioeconomic disadvantage, this study identifies promising targets for interventions aimed at reducing educational inequalities.

PMID:42206486 | DOI:10.1002/jad.70190

J Appl Lab Med. 2026 May 28:jfag075. doi: 10.1093/jalm/jfag075. Online ahead of print.

ABSTRACT

BACKGROUND: Capillary self-collection (CSC) devices allow patients to collect blood samples at home, potentially reducing outpatient phlebotomy visits. This study aimed to (a) assess the patient experience with multiple commercially available CSC devices; (b) determine which laboratory tests are commonly ordered together, which could reduce the need for appointments; and (c) evaluate the analytical performance of these tests using CSC samples.

METHODS: User experience for 3 CSC devices was evaluated. Clinical feasibility was determined by comparing test results in paired sera collected by venipuncture (VP) and CSC devices. VP samples were centrifuged within 2 h and tested immediately. CSC sera were centrifuged and tested both immediately and after delayed processing to simulate shipping temperature extremes (-20°C or 40°C). Basic metabolic panel, lipid panel, thyroid function cascade, and prostate-specific antigen were evaluated. Differences between VP and CSC collections were characterized according to their statistical and clinical differences.

RESULTS: Patients reported CSC devices were easy to use and painless. Clinically significant differences between VP and CSC sera processed immediately were limited to potassium and bicarbonate. Following delayed processing of CSC serum samples (48 h at room temperature), clinically significant differences in potassium, bicarbonate, and glucose were observed. Frozen samples could not be analyzed. A 48 h delay at 40°C caused clinically significant differences in all analytes except creatinine, lipid panel, prostate-specific antigen, and the thyroid cascade.

CONCLUSION: Potassium, bicarbonate, and glucose were not stable at room temperature in CSC sera. CSC serum specimens may be a viable option but require analyte-specific evaluation and consideration of transportation conditions.

PMID:42206470 | DOI:10.1093/jalm/jfag075

Clin Implant Dent Relat Res. 2026 Jun;28(3):e70160. doi: 10.1111/cid.70160.

ABSTRACT

AIM: To compare one-year prosthetic, technical, and esthetic outcomes of screw-retained, implant-supported all-ceramic single crowns placed on two-piece zirconia (ZrO₂) versus titanium implants.

MATERIALS AND METHODS: In this randomized, prospective, multicenter clinical trial, patients received screw-retained, implant-supported all-ceramic single crowns placed either on a two-piece zirconia implant with a titanium base connection or on a titanium implant with a conventional titanium base (implant diameters: 4.1 mm). Restoration survival and technical complications were systematically recorded. Peri-implant soft-tissue parameters, including plaque index (PI), papilla bleeding index (PBI), and papilla index (PaI), were assessed at baseline and at the one-year follow-up. Baseline was set at three weeks after crown insertion. Statistical analyses were performed using descriptive statistics. Chi-square tests were used to compare outcomes between the zirconia and titanium implant groups, with the level of significance set at p < 0.05.

RESULTS: A total of 117 implants were restored, and 112 restorations were available for analysis after one year of function. Restoration survival was 100% in both the zirconia and titanium implant groups. No statistically significant differences were observed between groups with regard to overall technical complication rates. Veneered zirconia crowns exhibited significantly higher complication rates compared with monolithic restorations, irrespective of the supporting implant material. Peri-implant soft-tissue parameters, including PI, PBI, and PaI, did not differ significantly between groups.

CONCLUSION: Within the limitations of this prospective randomized clinical trial, restorations supported by zirconia implants with a screw-retained titanium base connection demonstrated short-term clinical performance comparable to that of restorations placed on titanium implants. Both groups showed a 100% restoration survival rate, with no significant differences in technical complications or peri-implant soft-tissue parameters. These findings should be interpreted considering the one-year follow-up, the study design primarily powered to detect differences in marginal bone loss, and the exclusive use of regular-diameter implants. Overall, the results support the favorable short-term clinical performance at 1 year.

TRIAL REGISTRATION: The study is registered at the German Clinical Trial Register (https://drks.de/search/de/trial/DRKS00013209) as well as at the Federal Office of Public Health’s (FOPH) portal for human research in Switzerland (kofam.ch).

PMID:42206453 | DOI:10.1111/cid.70160

Acta Derm Venereol. 2026 May 28;106:adv44309. doi: 10.2340/actadv.v106.44309.

ABSTRACT

Bullous pemphigoid (BP) is the most common autoimmune blistering disease and has been linked to increased mortality, although previous studies have generally relied on small populations and no data have been available specifically for the Swedish population. This study aimed to evaluate the 1- and 10-year mortality rates and all-cause mortality in Swedish patients with BP compared with the general population. Using the National Patient Register, we conducted a retrospective cohort study and identified all BP cases in Sweden from 1 January 2005, to 31 December 2016. Age, sex, and county of residence matched controls without BP were drawn from the general population, and mortality data were obtained from the Swedish Cause of Death Register. In total, 5,738 patients with BP and 17,167 controls were included. BP patients had a significantly higher all-cause mortality (HR 2.15, 95% CI 2.06-2.24) than controls, with 1- and 10-year mortality rates of 21.2% and 80.2%, respectively. Cardiovascular diseases accounted for the largest proportion of deaths (25.3%). Notably, improved survival was observed among BP patients treated with methotrexate (MTX), prednisolone, and potent topical corticosteroids (HR 0.76, 95% CI 0.69-0.83). To our knowledge, this is the first nationwide Swedish study on BP mortality and one of the largest to date, confirming a significantly increased mortality risk in BP patients, particularly due to cardiovascular causes, while also suggesting that combined MTX, prednisolone, and potent topical steroid treatment may improve survival outcomes.

PMID:42206441 | DOI:10.2340/actadv.v106.44309

Dermatol Reports. 2026 May 28. doi: 10.4081/dr.2026.10293. Online ahead of print.

ABSTRACT

Aging is characterized by a progressive decline in physiological functions, including skin integrity and regeneration, with visible signs of skin aging typically emerging from the fourth decade of life onward. Extrinsic factors can accelerate this process. Retinoic acid has long been used as a standard anti-aging treatment, although it is associated with various side effects. L-ascorbic acid (LAA) 15% serum has emerged as a potential alternative with minimal side effects, yet its efficacy and safety in comparison to retinol 0.1% serum remain insufficiently studied. This double-blind, split-face, randomized clinical trial aimed to evaluate the effectiveness and safety of LAA relative to retinol in treating skin aging. Using the modified Dermoscopy Photo Aging Scale (DPAS) and JANUS-III, assessments were conducted on participants’ cheeks. Results indicated significant improvements in both the LAA and retinol groups at weeks 2 and 4. However, no statistically significant differences were observed between the two interventions at these time points. Both treatments demonstrated similar safety profiles, suggesting that LAA is as effective and safe as retinol for anti-aging therapy.

PMID:42206438 | DOI:10.4081/dr.2026.10293

Health Informatics J. 2026 Apr-Jun;32(2):14604582261456059. doi: 10.1177/14604582261456059. Epub 2026 May 28.

ABSTRACT

BackgroundNon-metastatic, castration-resistant prostate cancer (nmCRPC) is an advanced state of prostate cancer with variable prognosis; early identification of patient risk is crucial, so that clinicians can recommend optimal treatment.ObjectiveCompare predictive models in identifying patient risk; evaluate the value of electronic healthcare record (EHR) time-series (TS) information in prediction.MethodsWe evaluated SurvTRACE, Weibull Time to Event Recurrent Neural Network (WTTE-RNN), and traditional Cox proportional hazards (CPH) models’ performance on EHR data from 12,819 nmCRPC patients in the Veterans Health Administration, using area under the receiver operating characteristic curve and Brier score.ResultsWTTE-RNN, which intrinsically uses EHR TS information, outperformed the other models without TS information. Feature-engineered TS information improved performances of CPH and especially SurvTRACE; with TS information, SurvTRACE outperformed WTTE-RNN.ConclusionDeep learning methods, whether intrinsically able to handle TS data or enhanced with TS information, can outperform traditional survival analysis in predicting risk.

PMID:42206427 | DOI:10.1177/14604582261456059

Psych J. 2026 Jun;15(3):e70107. doi: 10.1002/pchj.70107.

ABSTRACT

Neurodevelopmental disorders (NDD) represent a heterogeneous group of conditions that are thought to be related to impaired brain development, which often leads to significant functional difficulties across various domains. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM) and the International Statistical Classification of Diseases and Related Health Problems (ICD), conventional diagnostic frameworks mainly focus on categorical classifications for identifying and supporting children with NDD. Despite their merit throughout the history of special and inclusive education, various stakeholders revealed the imperfections of this categorical diagnostic system. One aim of this perspective review, thus, is to promote a transdiagnostic approach for understanding NDDs as a possible supplementation of the current categorical diagnosis system. At the same time, there is limited relevant research on psychological and ecological domains beyond the symptomatic and neurocognitive domains of NDD. We propose to extend the transdiagnostic approach within the framework of a biopsychosocial approach that integrates neurocognitive, psychological, and socioecological factors and aims to enhance the understanding of NDD and the broader context of inclusive education.

PMID:42206411 | DOI:10.1002/pchj.70107

JMIR Cardio. 2026 May 22;10:e89480. doi: 10.2196/89480.

ABSTRACT

BACKGROUND: Accurate identification of clinical symptoms and signs (S&S) is essential for the early detection of high-burden cardiorespiratory conditions, including lung cancer, chronic obstructive pulmonary disease, and heart failure. Although symptom data play a central role in diagnostic reasoning and predictive modeling, most S&S information remains embedded in unstructured electronic health record notes, limiting their use in automated phenotyping, surveillance, and clinical decision support. Traditional natural language processing systems struggle with domain variability and contextual nuance in clinical text. Recent advances in large language models (LLMs) offer a promising alternative, yet challenges remain in hallucinations, overinference, and safe deployment. This study evaluated whether locally deployed open-source models could reliably extract cardiorespiratory S&S and map them to ICD-10-CM (International Classification of Diseases, Tenth Revision, Clinical Modification) codes using optimized prompting strategies.

OBJECTIVE: This study aims to assess the accuracy of open-source LLMs in extracting explicitly stated cardiorespiratory S&S from clinical notes and mapping them to ICD-10-CM codes (R00-R09) and to compare performance across 4 prompt-engineering strategies, including a multimodule LLM framework.

METHODS: A total of 593 clinical notes from the MTSamples database were manually reviewed, with 93 notes used for prompt development and comparison using Llama 3.3-70B, and 500 notes used as testing data for the final best prompt setting using both Llama 3.3-70B and gpt-oss-120B. Four prompting conditions were evaluated: (1) instruction-only, (2) ICD-10-CM definition-based prompts, (3) assumption-free prompts, and (4) a multimodule LLM framework with postprocessing. Performance was measured using precision, recall, and F1-score for both S&S extraction and ICD-10-CM code generation.

RESULTS: Across all prompt strategies, model performance improved as more structure and constraints were added. Instruction-only prompting demonstrated high recall but poor precision. Incorporating ICD-10-CM definitions improved coding accuracy, and assumption-free prompting further balanced precision and recall. The multimodule approach with postprocessing achieved the highest performance during prompt development. On the independent test corpus, entity-level microaveraged evaluation showed that gpt-oss-120B outperformed Llama 3.3-70B in both tasks. For S&S extraction, Llama 3.3-70B achieved a precision of 0.63, a recall of 0.86, and an F1-score of 0.73, whereas gpt-oss-120B achieved a precision of 0.89, a recall of 0.87, and an F1-score of 0.88. For ICD-10-CM code mapping, Llama 3.3-70B achieved a precision of 0.59, a recall of 0.83, and an F1-score of 0.69, whereas gpt-oss-120B achieved a precision of 0.90, a recall of 0.84, and an F1-score of 0.87.

CONCLUSIONS: Locally deployed LLMs, when paired with optimized prompting and multimodule orchestration, can accurately extract cardiorespiratory S&S and generate ICD-10-CM codes from unstructured clinical notes. This approach increases the level of data safety by enabling on-premises processing without external data transmission and demonstrates strong potential for scalable, domain-adaptive symptom extraction pipelines in biomedical informatics. Future work should expand datasets and evaluate generalizability across clinical domains.

PMID:42206405 | DOI:10.2196/89480

Public Health Nutr. 2026 May 28:1-27. doi: 10.1017/S1368980026102791. Online ahead of print.

ABSTRACT

OBJECTIVE: Dietary diversity is associated with health benefits. However, food biodiversity has been understudied. Therefore, we aim to evaluate the associations between dietary species richness (DSR), i.e., the number of species consumed by individuals, and dietary sustainability dimensions, including environmental pressures, diet quality and monetary cost.

SETTING: The study was carried out among the NutriNet-Santé cohort.

PARTICIPANTS: 29,173 volunteers were included.

DESIGN: Participants completed a 264-item food frequency questionnaire. Food items were linked to the corresponding species. ANCOVA models were fitted to evaluate the associations between total, plant, animal DSR, and dietary sustainability dimensions. The dietary share of organic food was computed.

RESULTS: Higher DSR was associated with lower overall environment impact, captured by the pRecipe, an indicator including greenhouse gases emissions (GHGe), land occupation (LO) and cumulative energy demand (CED) (pRecipe, Q5 vs Q1, -8.5%), better diet quality, reflected by the level of adherence to the French dietary guidelines (sPNNS-GS2, Q5 vs Q1: +44.8%), and stable dietary cost. Higher plant DSR was related with lower environmental impacts, better diet quality, and higher monetary cost. Higher animal DSR was associated with higher environmental pressures, lower diet quality and monetary cost. The amount of organic food consumed was positively associated with plant DSR, and negatively associated with animal DSR.

CONCLUSIONS: Overall, more biodiverse diets were related with better diet quality and lower environmental pressures. The associations seemed to be driven by plant biodiversity. Further studies are warranted to better understand the relationship between food biodiversity and sustainability dimensions across settings.

PMID:42206388 | DOI:10.1017/S1368980026102791