Nevin Manimala

Ann Hematol. 2025 Aug 7. doi: 10.1007/s00277-025-06393-z. Online ahead of print.

ABSTRACT

This study aimed to assess the prevalence of somatic mutations (SMs) in severe/very severe aplastic anemia (V/SAA) and transfusion-dependent nonsevere aplastic anemia (TD-NSAA) prior to immunosuppressive therapy (IST) and their impact on treatment efficacy. Next-generation sequencing was used to analyze 114 hematopoiesis-related genes at disease onset in 312 patients. SMs were detected in 17.9% of cases, involving 25 genes, most commonly DNMT3A (14, 20.9%) and BCOR (9, 13.4%). SMs were more frequent in patients over 40 years old, predominantly with a single mutation of low variant allele frequency (< 20%). Patients with SM were older and had lower lymphocyte counts. SMs did not significantly influence hematologic responses at 3, 6, or 12 months, relapse, progression, death, survival, or failure-free survival (p > 0.05). Grouping patients by mutated genes revealed no significant differences in IST efficacy, though Group I (PIGA or BCOR/BCORL1) showed higher hematologic response rates in patients over 40 years of age. The cumulative incidence of clonal evolution was higher in Group II (DNMT3A, TET2, ASXL1, FAT1, or RUNX1), though not statistically significant. SMs in V/SAA and TD-NSAA were infrequent and did not affect IST outcomes or treatment decisions. However, the higher clonal evolution incidence in certain mutations warrants further research.

PMID:40773104 | DOI:10.1007/s00277-025-06393-z

AIDS Behav. 2025 Aug 7. doi: 10.1007/s10461-025-04850-4. Online ahead of print.

ABSTRACT

Male circumcision (MC) has been shown to reduce the risk of HIV infection among men who have sex with men (MSM) in a recent randomised controlled trial. A question that remains unanswered is whether MC in MSM implies HIV compensation, i.e. condomless sex and/or multiple sex partners. We searched PubMed, Embase, and the Cochrane Library for relevant studies published before November 5, 2024 and reviewed references of included studies. We included interventional and observational studies reporting original quantitative data on the association between MC and condom use or the number of sex partners among MSM. Odds ratios (ORs) and 95% confidence intervals (CIs) were extracted directly from the studies or calculated from available data when necessary. A Mantel-Haenszel random effects model was used to calculate pooled ORs and CIs. The final analysis included 41,694 MSM from 15 eligible studies. No statistically significant association was found between MC and condomless sex (OR 1.02, 95% CI 0.91-1.14; k = 13; I² = 18%) or multiple sex partners (OR 1.03, 95% CI 0.94-1.12; k = 10; I² = 12%) among MSM. The lack of association persisted in the great majority of subgroup analyses, encompassing country income, age, recruitment setting, time length, year of recruitment, circumcision assessment, proportion circumcised, or risk of bias. In conclusion, MC among MSM was not found to be associated with either condomless sex or multiple sex partners. Nonetheless, standard minimum service packages, as per WHO guidelines, should be integrated and consistently provided within MC programs to better protect MSM from HIV infection.

PMID:40773103 | DOI:10.1007/s10461-025-04850-4

Clin Exp Med. 2025 Aug 7;25(1):281. doi: 10.1007/s10238-025-01819-4.

ABSTRACT

Dyslipidemia, diabetes mellitus, and insulin resistance (IR) are intricately linked. In recent years, a series of novel lipid indices have emerged. Investigating their correlation with diabetes and IR is critical for early intervention. This study analyzed 19,780 National Health and Nutrition Examination Survey (NHANES) participants (1999-2020), examining the atherogenic index of plasma (AIP), Castelli risk index I (CRI-I) and II (CRI-II), estimated small dense LDL cholesterol (EsdLDL-C), non-HDL cholesterol-to-HDL cholesterol ratio (NHHR), and remnant cholesterol (RC). Covariates were selected via Boruta and LASSO regression. Multivariate logistic regression, restricted cubic splines, ROC, subgroup, and mediation analyses were employed, validated by sensitivity analyses. The prevalence of diabetes was 15.0%. After adjustment, four indices (excluding CRI-II and EsdLDL-C) were associated with diabetes. For Q4 vs Q1, AIP and RC showed significantly elevated risk (OR: 2.52 [2.07-3.07] and 2.13 [1.75-2.58], respectively). Regarding IR, all indices exhibited dose-dependent associations, with AIP (OR: 5.74 [5.00-6.59]) and RC (4.09 [3.58-4.67]) showing the strongest links. For diabetes diagnosis, AIP (AUC: 0.824) and RC (0.822) outperformed other lipid indices (cutoffs: 0.31, 31.0) but were less effective than fasting glucose and HbA1c. For IR, AIP (AUC: 0.837) and RC (0.830) remained superior among lipid indices and showed no significant diagnostic disadvantage vs IR-related indicators. Subgroup analyses indicated stronger AIP/RC-diabetes/IR associations in females. Mediation analyses showed HOMA-IR mediated 43.1% and 50.3% of AIP/RC-diabetes associations, more pronounced in older adults (> 65 years), males and those with BMI ≥ 25 kg/m², while fatty acid intake did not affect these mediators. All six indices correlate with IR, but only AIP and RC strongly associate with diabetes, mediated by HOMA-IR. Females show enhanced AIP/RC-diabetes links, while older, male, and overweight groups exhibit greater HOMA-IR mediation. And AIP or RC’s diagnostic performance for IR is not inferior to other IR assessment indices. Thus, AIP and RC are prioritized biomarkers for diabetes and IR monitoring.

PMID:40773099 | DOI:10.1007/s10238-025-01819-4

Am J Hum Biol. 2025 Aug;37(8):e70120. doi: 10.1002/ajhb.70120.

ABSTRACT

OBJECTIVE: The aim of this study is to evaluate the influences exerted by temperature on the circadian rhythm of births.

METHODS: In the past births occurred mainly between midnight and dawn, while today births tend to be less frequent during the night hours. Today, almost all births are hospitalized and, therefore, they may adapt to the organizational requirements of the health care structures and staff. This piece of research regards births in Udine, a city in north-eastern Italy, recorded at the beginning of the 19th century. The data on births come from the French civil register. Weather data come from very detailed daily collection with three measurements per day. From the statistical point of view, we apply methods developed for circular data. In order to highlight relationships between time of birth and explanatory variables, we estimate MANOVA (multivariate analysis of variance) models and perform a statistical test for comparison between groups.

RESULTS: The test against the homogeneity of the hour-of-birth distributions across the 4 seasons is significant (p < 0.01). One-to-one comparison of the distributions is performed via Watson’s two-sample test on data for each couple of seasons: the Summer-Autumn comparison is the only non-significant test of homogeneity. Moreover, we consider daily temperatures in the bivariate model in several different ways and transformations. The daily temperature effect is more significant if considered as the difference between the evening temperature of the day before the birth and the mean daily temperature of the same day, over the nine-year period 1807-1815. Finally, based on this division of the births, Watson’s two-sample homogeneity test for the distribution of the hour of birth is significant (p < 0.05).

CONCLUSIONS: We found that the circadian rhythm of births is influenced by temperature, with an anticipation of the time of birth on warmer days. To our knowledge, our results are the first evidence of the effects of daily temperature on the time of birth.

PMID:40772405 | DOI:10.1002/ajhb.70120

Minerva Urol Nephrol. 2025 Aug 7. doi: 10.23736/S2724-6051.25.06283-4. Online ahead of print.

ABSTRACT

BACKGROUND: Bladder neck contracture (BNC) is common complication following surgery for benign prostate hyperplasia (BPH). Bladder neck reconstruction such as Y-V plasty may be considered for treatment of refractory BNC. This study aimed to compare the outcomes of robot-assisted modified Y-V plasty (RAMYV) and traditional Y-V plasty (RAYV) for refractory. Additionally, it seeks to establish a potential predictive system for postoperative patient-reported outcomes (PROs).

METHODS: We retrospectively analyzed clinical data of all patients with refractory BNC who underwent robot-assisted Y-V plasty from October 2022 and January 2024. Follow-up assessments were conducted at 1, 3 and 6 months.

RESULTS: Forty-eight patients with refractory BNC were included. 20 patients underwent RAYV, while 28 patients underwent RAMYV. All patients were followed for a period of six months. All patients had patent repairs and were voiding per urethra. Significant improvements were noted in the maximum urinary flow rate (Qmax), residual urine, and IPSS scores in both groups at 1, 3, and 6 months postoperatively, compared to the preoperative state. However, no statistically significant difference was found between the two groups at 1 month postoperatively. At 3 months postoperatively, the RAMYV group exhibited superior outcomes in IPSS and USS-PROM compared to the RAYV group, with statistically significant differences. At 6 months, the RAMYV group also exhibited superior outcomes in QoL and OAB-V8 compared to the RAYV group. Age and corresponding baseline scores on various scales are important predictors of lower urinary tract symptoms (LUTSs) after surgery. Preoperative scores on scales emphasizing flow assessment, such as the IPSS and USS PROM, carry significant weight, whereas age is the most influential factor in assessing storage function. This was a retrospective study, data bias was inevitable.

CONCLUSIONS: YV plasty has been identified as an effective option for treating refractory BNC. Compared to RAYV, RAMYV appears to have better efficacy for patient outcomes in our six-month follow-up. Baseline scores related to age and preoperative symptom scores may serve as potential predictive factors for postoperative outcomes.

PMID:40772398 | DOI:10.23736/S2724-6051.25.06283-4

Br J Haematol. 2025 Aug 7. doi: 10.1111/bjh.70050. Online ahead of print.

ABSTRACT

In the setting of haploidentical haematopoietic cell transplantation (HCT), post-transplant cyclophosphamide (PTCy) has dramatically reduced the incidence of graft-versus-host disease (GVHD) and non-relapse mortality. To further reduce GVHD incidence, the addition of antithymocyte globulin (ATG) to PTCy was evaluated in retrospective and non-comparative prospective studies showing promising results. We conducted a large retrospective analysis of the European Society for Blood and Marrow Transplantation (EBMT) registry to evaluate this approach. We analysed haploHCT with peripheral blood stem cells performed for haematological malignancies between 2014 and 2021. GVHD prophylaxis included either PTCy alone or PTCy+ATG. Four thousand five hundred and nineteen patients were analysed in the PTCy only group versus 675 with PTCy+ATG. Median follow-up was 29.80 months. In univariate analysis, 2-year GVHD-free, relapse-free survival (GRFS), relapse-free survival (RFS), overall survival (OS), cumulative incidence of relapse, non-relapse mortality (NRM) and chronic GvHD (cGVHD) were, respectively: 40.5% versus 37.5% (p = 0.098), 50.9% versus. 45.8% (p = 0.015), 56.9% versus 52.5% (p = 0.01), 24.2% versus 28.1% (p = 0.032), 25% versus 26.1% (p = 0.49) and 28.4% versus 18.5% (p < 0.001). aGVHD did not differ. After multivariable adjustment, OS and RFS were lower in the PTCy+ATG group: HR = 1.18 (p = 0.037) and HR = 1.18 (p = 0.027) and patients receiving PTCy+ATG had less cGVHD: HR = 0.68 (p = 0.004). In that retrospective analysis, the addition of ATG to PTCy for GVHD prophylaxis in haploHCT was associated with a reduction of cGVHD but also a worse OS and RFS.

PMID:40772384 | DOI:10.1111/bjh.70050

Pediatr Allergy Immunol. 2025 Aug;36(8):e70166. doi: 10.1111/pai.70166.

ABSTRACT

BACKGROUND: Discrepancies between parent reports and electronic health records (EHRs) challenge the accurate estimation of childhood allergic disease prevalence. This study aimed to: (1) compare parent reports of asthma, eczema, and allergic rhinitis with GP-recorded diagnoses; (2) identify factors associated with reporting differences; and (3) assess the predictive validity of parent reports for future diagnoses.

METHODS: Data were analyzed from 2594 children (aged 4-5 years) in the UK Born in Bradford (BiB) cohort. Parent-reported symptoms and diagnoses from questionnaires were compared against diagnoses in primary care EHRs. Agreement was assessed using prevalence estimates and agreement metrics. Logistic and Poisson regression models were used to identify factors influencing reporting and to evaluate predictive validity.

RESULTS: Agreement varied by condition. For parent-reported “ever-diagnosed” asthma, agreement with GP records was good (Kappa = 0.68), while for recent eczema symptoms, it was poor (Kappa = 0.07), though this improved after adjusting for prevalence (PABAK = 0.66). Parent reports were highly reliable for ruling out diagnoses. Factors including ethnicity and GP visit frequency were associated with reporting discrepancies. Parent reports at age 4-5 strongly predicted a future GP diagnosis, increasing the risk fivefold for asthma and threefold for allergic rhinitis.

CONCLUSION: Neither parent reports nor EHRs alone capture the full picture of childhood allergic disease. Parent reports offer crucial insights into symptom burden and future risk, while EHRs provide objective diagnostic data. An integrating approach, combining both sources, is essential for comprehensive epidemiological research and a more complete understanding of disease burden.

PMID:40772360 | DOI:10.1111/pai.70166

Nord J Psychiatry. 2025 Aug 7:1-9. doi: 10.1080/08039488.2025.2539782. Online ahead of print.

ABSTRACT

BACKGROUND: The aim of the study was to investigate the empirical validity of the Chinese Brief Cognitive Test (C-BCT) and examine the correlation between cognitive symptoms and functional outcomes in people with schizophrenia.

METHODS: Patients with schizophrenia (n = 145) together with 723 healthy controls underwent testing with C-BCT and MATRICS Consensus Cognitive Battery (MCCB). Clinical staff measured Positive and Negative Syndrome Scale (PANSS) and Personal and Social Performance (PSP) Scale for patients. One-way analysis of covariance was conducted to compare cognitive performance across groups. The correlation between C-BCT performance and PANSS and PSP was examined using the Pearson product moment correlation. The Global Deficit Score (GDS) was used to identify the severity of cognitive impairment. The generalized linear model was used to analyze the effects of age, sex and education.

RESULTS: The four scales of C-BCT alongside composite scaled score (Css) demonstrated statistical differences between groups with partial eta squared scores between 0.049 and 0.171. Composite scaled score was weakly correlated with each scale of the PANSS (r-value ranged from -0.242 to -0.190), and weakly correlated with PSP. In addition to Digit Span Task, scales of C-BCT had different correlations with PANSS and PSP. There were differences in GDS among patients with different employment status (p < .05). 55.9% of the patient sample had been identified as cognitive impaired using C-BCT.

CONCLUSIONS: The C-BCT exhibits good empirical validity in Chinese patients with schizophrenia. Information processing speed, executive function, attention/vigilance, and overall cognitive performance were differently related to clinical symptoms and social function.

HIGHLIGHTS: Cognitive impairment is one of the core symptoms and dimensions of schizophrenia.The Chinese Brief Cognitive Test (C-BCT) is a simplified cognitive assessment tool based on the Chinese cultural environment.The C-BCT has good empirical validity in Chinese patients with schizophrenia, and can evaluate neurocognition in Chinese patients with schizophrenia in a shorter time.The C-BCT may be helpful for clinicians and researcher because of its convenience and efficiency.

PMID:40772332 | DOI:10.1080/08039488.2025.2539782

Ren Fail. 2025 Dec;47(1):2539933. doi: 10.1080/0886022X.2025.2539933. Epub 2025 Aug 7.

ABSTRACT

BACKGROUND: Acute kidney injury (AKI) in critically ill patients often requires continuous renal replacement therapy (CRRT), yet predictors of successful transition off CRRT remain unclear. This study aimed to identify clinical factors associated with successful and sustained CRRT discontinuation.

METHODS: We retrospectively analyzed 924 adult ICU patients who received CRRT between January 2010 and December 2024. The primary outcome was successful CRRT transition, defined as discontinuation without CRRT re-initiation within 7 days or transition to intermittent hemodialysis. Multivariable logistic regression was used to evaluate associations with clinical, hemodynamic, and biochemical parameters.

RESULTS: Of 924 patients (mean age 60 ± 14 years; 66% male), 823 (89%) successfully transitioned off CRRT. Vasopressor use (adjusted odds ratio [aOR] 0.68, p = 0.0001) and mechanical ventilation (aOR 0.56, p = 0.02) were associated with lower odds of success. On transition day, higher urine output (per 1 L, aOR 1.39, p = 0.003), serum bicarbonate (aOR 1.10, p = 0.032), and mean arterial pressure (aOR 1.02, p = 0.031) were positive predictors, while elevated blood urea nitrogen (aOR 0.98, p = 0.05) and higher obligate fluid intake (per 1 L, aOR 0.84, p = 0.032) were negative predictors. At day 7, sustained success was positively associated with urine output (aOR 1.35, p = 0.008) and serum pH (aOR 1.58, p = 0.049), and negatively associated with vasopressor use (aOR 0.69, p = 0.0001) and obligate intake (aOR 0.68, p < 0.0001).

CONCLUSION: Higher urine output, better acid-base status, and stable hemodynamics predict successful and sustained CRRT discontinuation. Ongoing vasopressor use and high fluid burden reduce the likelihood of success.

PMID:40772290 | DOI:10.1080/0886022X.2025.2539933

Front Genet. 2025 Jul 23;16:1635734. doi: 10.3389/fgene.2025.1635734. eCollection 2025.

ABSTRACT

Forensic genetic genealogy (FGG) is a force-multiplier for human identification, leveraging dense single nucleotide polymorphism (SNP) data to infer relationships through identity by descent (IBD) segment analysis. Although powerful for investigative lead generation, broad adoption of SNP-based identification methods by the forensic community, especially medical examiners and crime laboratories, necessitates likelihood ratio (LR)-based relationship testing, to align with traditional kinship testing standards. To address this gap, a novel method was developed that incorporates LR calculations into FGG and SNP testing workflows. This approach is unique in that it dynamically selects unlinked, highly informative SNPs based on configurable thresholds for minor allele frequency (MAF) and minimum genetic distance for a robust and reliable analysis. Employing a curated panel of 222,366 SNPs from gnomAD v4 and data from the 1,000 genomes project, high accuracy in resolving relationships up to second-degree relatives can be achieved. For example, a subset of 126 SNPs (MAF > 0.4, minimum genetic distance of 30 cM) yielded 96.8% accuracy and a weighted F1 score of 0.975 across 2,244 tested pairs. This LR-based methodology enables forensic laboratories to select informative SNPs and integrate modern genomic data with existing accredited relationship testing frameworks, providing critical statistical support for close-relationship comparisons and enhances the rigor of FGG- and SNP-based human identification applications.

PMID:40772272 | PMC:PMC12325062 | DOI:10.3389/fgene.2025.1635734