Nevin Manimala

Brain Dev. 2025 May 10;47(4):104367. doi: 10.1016/j.braindev.2025.104367. Online ahead of print.

ABSTRACT

BACKGROUND: Fragile X syndrome (FXS) commonly cause developmental delay, intellectual disability, and autism spectrum disorder. Although genetic testing has been available and included in Japan’s national health insurance since 2016, the number of cases diagnosed with FXS remains low. This study aimed to explore the levels of awareness and understanding of FXS among pediatricians managing developmental delay/ intellectual disability in Japan, particularly between pediatrician with and without clinical genetics certification (or clinical experience with FXS).

METHODS: A survey involving 1217 certified pediatric neurologists from the Japanese Society of Pediatric Neurology and 367 members of the Japanese Society of Pediatric Genetics was conducted. Additional participants were recruited from an online mailing list of 1469 pediatric neurologists. The survey comprised questions on demographics, knowledge about FXS, and genetic testing practices. The responses were analyzed using Chi-square and Fisher’s exact tests, and a p-value <0.05 was considered statistically significant.

RESULTS: Out of 386 respondents, 326 had experience ordering some kind of genetic testing, including 78 certified clinical geneticists. Knowledge gaps were significant between clinical geneticists and non-genetic specialists. While 20 % of non-genetic specialists were unaware of insurance-covered FXS genetic testing, this percentage was lower among those with clinical experience in FXS cases. Many respondents, irrespective of certification, struggled to determine the indications for requesting FXS genetic testing. Furthermore, non-genetic specialists reported more difficulty providing genetic counseling owing to the psychological burden on mothers.

CONCLUSION: This study highlights the necessity for expanding education and training on FXS among pediatricians in Japan. Addressing these knowledge gaps may enhance FXS diagnostic rates and improve the management of affected individuals and families. Future efforts should focus on strengthening the collaboration between clinical geneticists and general pediatricians and establishing reliable genetic counseling support systems.

PMID:40349415 | DOI:10.1016/j.braindev.2025.104367

Eur J Radiol. 2025 May 3;188:112160. doi: 10.1016/j.ejrad.2025.112160. Online ahead of print.

ABSTRACT

OBJECTIVES: Optimize deep learning-based vertebrae segmentation in longitudinal CT scans of multiple myeloma patients using structural uncertainty analysis.

MATERIALS & METHODS: Retrospective CT scans from 474 multiple myeloma patients were divided into train (179 patients, 349 scans, 2005-2011) and test cohort (295 patients, 671 scans, 2012-2020). An enhanced segmentation pipeline was developed on the train cohort. It integrated vertebrae segmentation using an open-source deep learning method (Payer’s) with a post-hoc structural uncertainty analysis. This analysis identified inconsistencies, automatically correcting them or flagging uncertain regions for human review. Segmentation quality was assessed through vertebral shape analysis using topology. Metrics included ‘identification rate’, ‘longitudinal vertebral match rate’, ‘success rate’ and ‘series success rate’ and evaluated across age/sex subgroups. Statistical analysis included McNemar and Wilcoxon signed-rank tests, with p < 0.05 indicating significant improvement.

RESULTS: Payer’s method achieved an identification rate of 95.8% and success rate of 86.7%. The proposed pipeline automatically improved these metrics to 98.8% and 96.0%, respectively (p < 0.001). Additionally, 3.6% of scans were marked for human inspection, increasing the success rate from 96.0% to 98.8% (p < 0.001). The vertebral match rate increased from 97.0% to 99.7% (p < 0.001), and the series success rate from 80.0% to 95.4% (p < 0.001). Subgroup analysis showed more consistent performance across age and sex groups.

CONCLUSION: The proposed pipeline significantly outperforms Payer’s method, enhancing segmentation accuracy and reducing longitudinal matching errors while minimizing evaluation workload. Its uncertainty analysis ensures robust performance, making it a valuable tool for longitudinal studies in multiple myeloma.

PMID:40349413 | DOI:10.1016/j.ejrad.2025.112160

Forensic Sci Int. 2025 May 7;371:112495. doi: 10.1016/j.forsciint.2025.112495. Online ahead of print.

ABSTRACT

DNA preservation is influenced by various external and internal factors that are complexly intertwined. Environmental factors are among the variables that have the most significant impact on preserving genetic material. To better understand their effects, 247 petrous bones from two geographically distinct cemeteries were compared. Molecular genetic methods were used in the study, including a complete demineralization extraction method to obtain the DNA from bone samples and real-time PCR to determine DNA quantity and quality. Statistical analysis was performed to investigate the differences in DNA yield and DNA degradation between petrous bones from the two different Slovenian archeological sites, Ljubljana – Njegoševa and Črnomelj. Results showed significantly higher DNA yield and lower degradation index in petrous bones from the Ljubljana – Njegoševa cemetery. The differences emphasize the impact of environmental factors, especially that of temperature, pH and permeability of the soil, on DNA degradation. This study provides valuable insights into understanding the complexity of DNA preservation in skeletal remains from different types of environments.

PMID:40349398 | DOI:10.1016/j.forsciint.2025.112495

Med Ultrason. 2025 Apr 11. doi: 10.11152/mu-4504. Online ahead of print.

ABSTRACT

AIM: This study aims to explore the potential of machine learning as a non-invasive automated tool for skin tumor differentiation.

MATERIAL AND METHODS: Data were included from 156 lesions, collected retrospectively from September 2021 to February 2024. Univariate and multivariate analyses of traditional clinical features were performed to establish a logistic regression model. Ultrasound-based radiomics features are extracted from grayscale images after delineating regions of interest (ROIs). Independent samples t-tests, Mann-Whitney U tests, and Least Absolute Shrinkage and Selection Operator (LASSO) regression were employed to select ultrasound-based radiomics features. Subsequently, five machine learning methods were used to construct radiomics models based on the selected features. Model performance was evaluated using receiver operating characteristic (ROC) curves and the Delong test.

RESULTS: Age, poorly defined margins, and irregular shape were identified as independent risk factors for malignant skin tumors. The multilayer perception (MLP) model achieved the best performance, with area under the curve (AUC) values of 0.963 and 0.912, respectively. The results of DeLong’s test revealed a statistically significant discrepancy in efficacy between the MLP and clinical models (Z=2.611, p=0.009).

CONCLUSION: Machine learning based skin tumor models may serve as a potential non-invasive method to improve diagnostic efficiency.

PMID:40349378 | DOI:10.11152/mu-4504

Med Ultrason. 2025 Apr 29. doi: 10.11152/mu-4505. Online ahead of print.

ABSTRACT

AIM: To evaluate the effectiveness of two large language models, ChatGPT-4 and Claude 3, in improving the accuracy of question responses by senior sonologist and junior sonologist.

MATERIAL AND METHODS: A senior and a junior sonologist were given a practice exam. After answering the questions, they reviewed the responses and explanations provided by ChatGPT-4 and Claude 3. The accuracy and scores before and after incorporating the models’ input were analyzed to compare their effectiveness.

RESULTS: No statistically significant differences were found between the two models’ responses scores for each section (all p>0.05). For junior sonologist, both ChatGPT-4 (p=0.039) and Claude 3 (p=0.039) significantly improved scores in basic knowledge. The responses provided by ChatGPT-4 also significantly improved scores in relevant professional knowledge (p=0.038), though their explanations did not (p=0.077). For all exam sections, both models’ responses and explanations significantly improved scores (all p<0.05). For senior sonologist, both ChatGPT-4’s responses (p=0.022) and explanations (p=0.034) improved scores in basic knowledge, as did Claude 3’s explanations (p=0.003). Across all sections, Claude 3’s explanations significantly improved scores (p=0.041).

CONCLUSION: ChatGPT-4 and Claude 3 significantly improved sonologist’ examination performance, particularly in basic knowledge.

PMID:40349377 | DOI:10.11152/mu-4505

Med Ultrason. 2025 Apr 29. doi: 10.11152/mu-4507. Online ahead of print.

ABSTRACT

AIM: Caudal epidural injection is used for lumbosacral radicular pain but there is a risk of vascular injection. An ultrasound-guided catheter-over-needle technique was proposed to reduce this risk. This study compared the incidence of vascular injections between the catheter-over-needle and Tuohy needle methods for caudal epidural injections.

MATERIAL AND METHODS: This prospective, randomized clinical trial included patients aged ≥19 years with degenerative lumbar disease accompanied by radicular pain who were unresponsive to non-invasive treatments and scheduled for caudal epidural injection. The participants were randomized into two groups: catheter-over-needle and Tuohy needle groups. Under ultrasound guidance, the contrast medium was injected and observed in real time using fluoroscopy. An independent physician assessed the vascular injection rates.

RESULTS: The incidence of vascular injection was significantly lower in the catheter-over-needle group (15.7%) than in the Tuohy needle group (37.5%; p=0.014). Chronic pain lasting >12 months was a significant risk factor for vascular injection (p=0.035). However, no statistically significant association was found between sacral opening depth and vascular injection, although the sacral opening depth was shorter in patients who received intravascular injections.

CONCLUSIONS: The catheter-over-needle technique significantly reduces the risk of vascular injection. The depth of the sacral opening may also influence vascular injection.

PMID:40349375 | DOI:10.11152/mu-4507

Trends Psychiatry Psychother. 2025 May 11. doi: 10.47626/2237-6089-2024-1006. Online ahead of print.

ABSTRACT

BACKGROUND: Depression is a prevalent mental health condition with a significant global burden, yet treatment coverage remains limited. Digital interventions offer a promising avenue for expanding access to evidence-based interventions.

METHODS: In a three-arm randomized clinical trial, we evaluated the efficacy and safety of an app-based intervention and an online group cognitive behavioral therapy (GCBT) to reduce depressive symptoms compared to a waiting list control (WLC). Participants (N=109) with PHQ-9 scores ≥9 were randomized into three groups. Informed consent was obtained. The primary outcome, depressive symptoms, was assessed at baseline and every 4 weeks over 12 weeks. Secondary outcomes included anxiety symptoms, loneliness perception, and treatment-related adverse effects. We used one-tailed Student’s t-tests and Mann-Whitney U tests, adjusting p-values for false discovery rate. Statistical significance was set at 5%. ClinicalTrials.gov identifier: NCT05450614.

RESULTS: After excluding dropouts, 58 participants remained (28 app; 19 GCBT; 11 WLC). Most were women (app: 86%; GCBT: 89%; WLC: 100%) and identified as white (app: 61%; GCBT: 63%; WLC: 82%), aged 36 to 39, with high income and education. Only GCBT showed a significant reduction in anxiety (t(23.92) = 2.20, p = 0.019; padj = 0.038; Cohen’s d = 0.81, 95% CI [0.17, ∞). The remaining comparisons were not statistically significant.

CONCLUSION: While only GCBT showed significant improvement in anxiety symptoms, both treatments showed trends toward depressive symptom reduction. High dropout rates and a small sample may have impacted results. Further research should assess the long-term impact and scalability of digital interventions in mental health.

PMID:40349367 | DOI:10.47626/2237-6089-2024-1006

J Community Psychol. 2025 May;53(4):e70017. doi: 10.1002/jcop.70017.

ABSTRACT

AIMS: Knowledge about unaccompanied women experiencing homelessness in the US remains scant. This study used a feminization of homelessness framework to compare time that unaccompanied women and men spent in the coordinated entry system (US process for housing service prioritization and allocation) based on reasons for entering homelessness.

METHODS: Bivariate tests and negative binomial models were run using data for persons within one southern U.S. community in 2022 (N = 3,258).

RESULTS: Women spent 232 mean days less in the system than men, and more entered homelessness due to unaffordable housing, eviction, and domestic violence; men entered due to institutional discharge, substance abuse, or job loss. For women, domestic violence predicted less time; substance abuse or being Black predicted more. For men, job loss, mental illness, being Black, or having a disability predicted longer time.

CONCLUSION: Results underscore the benefits of women-centered trauma-responsive housing, and prioritizing job training and mental healthcare for men. Universally, structural inequalities and racial discrimination are the backdrop of unaccompanied homelessness.

PMID:40349361 | DOI:10.1002/jcop.70017

J Nephrol. 2025 May 11. doi: 10.1007/s40620-025-02303-8. Online ahead of print.

ABSTRACT

BACKGROUND: Recombinant human erythropoietin (rHuEPO) and darbepoetin alfa (DA) are key treatments for anemia in individuals with chronic kidney disease (CKD), including children, but evidence comparing their efficacy in the pediatric population remains inconclusive.

METHODS: This systematic review, adhering to PRISMA guidelines, analyzed randomized controlled trials and observational studies comparing rHuEPO and DA in pediatric patients with CKD (≤ 18 years; ≥ 10 children per study), searched across medical databases and clinical trial registries until 31/12/2024. The Cochrane Risk of Bias was used for assessment. Meta-analysis evaluated hemoglobin (Hb) increase and cost-effectiveness using the incremental cost-effectiveness ratio.

RESULTS: From 1298 screened articles, 7 studies were included: 3 prospective studies, 2 randomized open-label non-inferiority trials, and 2 retrospective cohort studies, comprising 208 children for direct comparisons and 357 for transitioning studies. Meta-analysis found no significant Hb improvement differences between rHuEPO and DA after 21-28 weeks of treatment (DA + 0.15 g/dL, 95% CI – 0.22 to + 0.52). rHuEPO was more cost-effective than DA. Transitioning to DA increased Hb by + 0.93 g/dL (95% CI 0.53-1.33) in children with suboptimal levels, after 21-28 weeks of rHuEPO. The incremental cost-effectiveness ratio of switching to DA was ~ €340 per g/dL of Hb over 24 weeks.

CONCLUSIONS: rHuEPO is the most cost-effective initial anemia treatment in pediatric CKD. However, transitioning to DA may be considered for patients who do not achieve adequate Hb response. The small number of randomized controlled trials (RCTs), variability in dose conversion, and study heterogeneity may limit generalizability.

PROSPERO ID: CRD42023460872.

PMID:40349276 | DOI:10.1007/s40620-025-02303-8

J Neurol. 2025 May 11;272(6):390. doi: 10.1007/s00415-025-13130-z.

ABSTRACT

BACKGROUND AND OBJECTIVES: Motor neuron disease (MND) is a progressive neurodegenerative disorder associated with high morbidity and mortality. With global aging, the burden of MND is expected to increase, particularly in regions with rapidly aging populations. This study utilizes Global Burden of Disease (GBD) 2021 data to assess the global and regional MND burden from 1990 to 2021, examining trends by age, sex, and socio-demographic index (SDI), and projecting future trends to 2040.

METHODS: Data from the GBD 2021 database for the years 1990-2021 were analyzed to evaluate age-standardized prevalence rates (ASPR), incidence rates (ASIR), mortality rates (ASMR), and disability-adjusted life years (DALYs) for MND across SDI regions, age groups, and sexes. Temporal trends were explored using joinpoint regression analysis, while future projections were generated using the Bayesian age-period-cohort (BAPC) model for 2021-2040.

RESULTS: From 1990 to 2021, global MND prevalence increased by 68.43%, reaching 272,732 cases, while the age-standardized prevalence rate (ASPR) slightly declined, reflecting the influence of population aging. Although global incidence increased by 74.54%, the age-standardized incidence rate (ASIR) showed a modest decline, suggesting improvements in diagnostic practices. Mortality and DALY rates continued to rise globally, with high-SDI regions bearing the highest burden. Projections indicate that by 2040, global MND prevalence will decline slightly, while incidence, mortality, and DALYs will continue to rise in low- and middle-SDI regions due to aging populations.

DISCUSSION: The global MND burden is heavily influenced by aging, particularly in high-SDI regions. Although incidence rates have slightly decreased, mortality and disability burdens are increasing, highlighting ongoing challenges in disease management and treatment. The findings stress the importance of age-targeted interventions, improving healthcare access, and addressing socio-economic disparities to mitigate the future impact of MND, particularly in low- and middle-SDI regions.

PMID:40349275 | DOI:10.1007/s00415-025-13130-z