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Nevin Manimala Statistics

Pharmacogenomic insights: IL-23R and ATG-10 polymorphisms in Sorafenib response for hepatocellular carcinoma

Clin Exp Med. 2025 Feb 8;25(1):51. doi: 10.1007/s10238-025-01576-4.

ABSTRACT

Hepatocellular carcinoma (HCC) is the most common primary liver cancer. Sorafenib is the first FDA-approved systemic therapy for advanced HCC. This study investigates the influence of IL-23R (rs7517847) and ATG-10 (rs10514231) genetic polymorphisms on Sorafenib response, survival outcomes, average tolerable dose, and adverse events. This prospective open-label cohort study included 100 HCC patients, assessing IL-23R and ATG-10 genotypes via real-time polymerase chain reaction (RT-PCR). Patient’s responses were evaluated using modified RECIST criteria. Statistical analyses evaluated the association of genetic variants with response, progression-free survival (PFS), overall survival (OS), average tolerable Sorafenib dose, and adverse events. IL-23R TT carriers had the highest Sorafenib response rate (80%) compared to GT (13.3%) and GG (6.7%) (P = 0.021), while ATG-10 TT carriers had a 13.9-fold increased response likelihood (P = 0.001). The T allele in ATG-10 significantly predicted longer PFS (P = 0.025) and OS (P = 0.011), suggesting a potential prognostic role. IL-23R GG carriers received significantly higher Sorafenib doses than TT (P = 0.0174) and GT (P = 0.0227), whereas ATG-10 had no effect on dosage. However, its CT genotype was significantly associated with a higher risk of Hand-Foot Syndrome (P = 0.012), and independent of dose (P = 0.0018). IL-23R and ATG-10 polymorphisms influence Sorafenib response, survival, and tolerability in HCC patients. Genetic screening may improve personalized treatment strategies by optimizing Sorafenib efficacy and minimizing toxicity.This trial was registered on clinicaltrials.gov with registration number NCT06030895, registered on “September 11th, 2023,” retrospectively.

PMID:39921803 | DOI:10.1007/s10238-025-01576-4

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Spatiotemporal evolution of PM2.5 and its components and drivers in China, 2000-2023: effects of air pollution prevention and control actions in China

Environ Geochem Health. 2025 Feb 8;47(3):69. doi: 10.1007/s10653-025-02375-2.

ABSTRACT

This study evaluated the Air Pollution Prevention and Control Action Plan (APPCAP) in China using 2000-2023 data. The average annual PM2.5 concentration dropped from 46.11 ± 16.18 µg/m3 to 31.75 ± 14.22 µg/m3 (P < 0.05) after APPCAP, with components showing a similar decline. Temporal analysis via Mann-Kendall test indicated a decreasing trend (Z < 0, P < 0.05), seasonally peaking in winter and lowest in summer. Spatially, APPCAP reduced concentration distribution, with key regions improving but areas like Shandong and Henan still facing severe pollution. The main PM2.5 driver shifted from human (e.g., population density) to meteorological (e.g., temperature) factors post-APPCAP, and anthropogenic influence varied across regions. In summary, APPCAP has curbed PM2.5 pollution, yet SO42-, NO3, and NH4+ remain relatively high, and the increasing human impact in central and southeastern China demands attention in future policies.

PMID:39921792 | DOI:10.1007/s10653-025-02375-2

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Instruments for assessing patient-reported experience measures among patients with diabetes mellitus: a scoping review

J Patient Rep Outcomes. 2025 Feb 8;9(1):16. doi: 10.1186/s41687-025-00848-7.

ABSTRACT

PURPOSE: Diabetes Mellitus (DM) management is increasingly focusing on patient-centered care, making patient-reported experience measures (PREMs) critical for understanding the subjective aspects of diabetes treatment and self-management. These measures differ based on cultural contexts and individual perspectives, leading different countries to the development of country-specific tools to assess care quality from the patient’s viewpoint. This review aimed to identify available instruments for assessing patient-reported experiences in individuals with diabetes and examine the different domains, items, and the validity and reliability of these instruments.

METHODS: Following PRISMA-ScR guidelines, databases including PubMed, Embase, CINAHL, Cochrane, and Scopus were searched for English-language articles without year limitations. This scoping review focused on PREMs that evaluate the quality of diabetes care among adolescent and adult patients with type 1 and type 2 DM. Studies that used patient expectation questionnaires, involved individuals not receiving care, or focused on patient-reported outcomes rather than experiences were excluded.

RESULTS: Eight articles from six countries representing different healthcare settings were included, mostly from developed countries. A variety of methodologies were used to develop these PREM instruments, with unique domains and items. Content analysis revealed five commonly measured domains: (1) care planning, (2) patient education, (3) professionalism, (4) quality of care, and (5) hospital care and transition, reflecting diverse patient experiences across healthcare services.

CONCLUSIONS: This scoping review identifies a limited number of tools for evaluating PREMs in diabetes care, highlighting variability in their development and domain coverage. Five core domains are proposed across different settings, with an emphasis on culturally adapted measures to enhance the accuracy of patient experience capture in diverse populations.

PMID:39921791 | DOI:10.1186/s41687-025-00848-7

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Association Between ERBB2 and ERBB3 Polymorphisms and Dyslipidaemia and Serum Lipid Levels in a Chinese Population

Biochem Genet. 2025 Feb 8. doi: 10.1007/s10528-025-11048-9. Online ahead of print.

ABSTRACT

Dyslipidaemia, characterised by abnormal lipid levels in the blood, is an important risk factor for cardiovascular disease. In this case-control study, the association between single-nucleotide polymorphisms in ERBB2 and ERBB3 genes and the risk of dyslipidaemia in a population from Northern Anhui, China was evaluated. Particularly, we analysed samples from 543 patients with dyslipidaemia and 648 healthy controls for five potentially functional polymorphisms using TaqMan assays. Multivariate logistic regression was used to assess the relationship between genotype and dyslipidaemia, adjusting for confounding variables. The ERBB2 rs2517955 and rs1058808 single-nucleotide polymorphisms were significantly associated with dyslipidaemia. The rs2517955 variant showed a protective effect against dyslipidaemia in males, individuals aged 55 years or younger, and those without diabetes. Similarly, the rs1058808 variant decreased the risk of dyslipidaemia in these stratified groups. Conversely, ERBB3 rs2292238 was associated with an increased risk of dyslipidaemia in patients with diabetes. Compared with the corresponding wild-type alleles, variant alleles of rs2517955 and rs1058808 were associated with a reduced risk of decreased high-density lipoprotein cholesterol levels. Additionally, ERBB2 rs2517955 variants were significantly linked to total cholesterol levels, whereas ERBB3 rs3741499 and rs877636 variants were significantly associated with low-density lipoprotein cholesterol levels. Our findings suggest that ERBB2 and ERBB3 polymorphisms are closely associated with the risk of dyslipidaemia in the Chinese population. These results provide valuable insights for further genetic studies of dyslipidaemia and the identification of potential therapeutic targets.

PMID:39921768 | DOI:10.1007/s10528-025-11048-9

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Evaluation of sarcopenia’s relationship with overall survival and treatment toxicity in soft tissue sarcomas

Support Care Cancer. 2025 Feb 8;33(3):167. doi: 10.1007/s00520-025-09235-w.

ABSTRACT

AIM: The aim of our study is to evaluate the relationship between sarcopenia, overall survival (OS), and chemotherapy toxicity in patients with unresectable/metastatic soft tissue sarcoma (STS) treated with adriamycin and ifosfamide.

METHODS: Patients with unresectable/metastatic STS over the age of 18, diagnosed between 2015 and 2023, were included in the study. The study was conducted retrospectively in a single center. Total muscle volume at the lumbar 3 (L3) vertebra level was measured from the patient’s computer tomography (CT) images. The skeletal muscle index (SMI) was calculated for each patient. Additionally, the prognostic nutritional index (PNI) was calculated for each patient using blood values.

RESULTS: Fifty-eight patients were included in the study. The median age of the patients was 51 years, Thirty-six (62.1%) were female and 22 (37.9%) were male. The SMI median was 49 cm2/m2 in male patients. ROC analysis demonstrated a statistically significant prediction of OS when the SMI index was < 49.2 cm2/m2. In female patients, the median SMI was 40 cm2/m2. ROC analysis demonstrated a statistically significant prediction of OS when the SMI index was < 40.3 cm2/m2. Median OS in the SMI < 49 cm2/m2 male group was 9 months (95% CI 7.99-10.08). In the SMI ≥ 49 cm2/m2 male group, the median OS was 30.2 months (95% CI 0.0-66.66). OS was statistically significant between the two groups (p = 0.003). The median OS in the SMI < 40 cm2/m2 female group was 20.5 months (95% CI 7.69-33.30). In the SMI ≥ 40 cm2/m2 female group, the median OS was 59.1 months (95% CI 21.36-96.98). OS was statistically significant between the two groups (p = 0.025). The relationship of SMI, as well as PNI, age, and Eastern Cooperative Oncology Group performance status (ECOG PS) with OS, was assessed. The relationship between SMI and chemotherapy toxicity was also evaluated. Chemotherapy-related toxicity was found to be significantly higher in sarcopenic patients (male SMI < 49 cm2/m2, female SMI < 40 cm2/m2) (p = 0.025).

CONCLUSIONS: A significant relationship was found between SMI and OS, but no significant relationship was found between PNI and OS. A significant relationship was also detected between SMI and treatment toxicity. Our study reveals that evaluating ECOG PS and sarcopenia in addition to grade and histological subtype when making treatment decisions will be associated with longer survival and less toxicity.

PMID:39921759 | DOI:10.1007/s00520-025-09235-w

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Comparative analysis of polypropylene and dual mesh incisional hernia repair methods in open surgery following organ transplantation: a single-center retrospective cohort study

Hernia. 2025 Feb 8;29(1):89. doi: 10.1007/s10029-025-03275-1.

ABSTRACT

PURPOSE: Transplant patients face a risk of developing incisional hernias. Establishing a reliable and secure incisional hernia repair method for this patient population remains a challenge.

METHODS: In this retrospective cohort study, we gathered data from patients who had undergone liver and kidney transplantations and subsequently had developed postoperative incisional hernias. Patient follow-up was extended for a minimum of 18 months. Primary outcomes focused on recurrence, hematoma, and infection rates, comparing the complication profiles of propylene mesh and Dual Mesh incisional hernia repair methods.

RESULTS: 122 transplant patients with incisional hernias were included. The incidence of recurrence and infection after incisional hernia repair surgery was 20.6% and 5.9% for Dual Mesh and 22.2% and 9.9% for polypropylene mesh (P = 0.721 and 1.000). In liver recipients, the Dual Mesh method showed a slightly lower incidence of recurrence (17.9% vs. 23.3%) and infection (3.6% vs. 10.0%) compared to polypropylene mesh (P = 0.782, 0.423). Kidney recipients exhibited insignificant higher recurrence (33.3% vs. 19%) and infection rates (16.7% vs. 9.5%) with Dual Mesh (P = 0.588, 0.545).

CONCLUSIONS: The results suggest that while trends indicate a lower recurrence and infection rate with Dual Mesh in liver transplant patients and a slightly higher recurrence and infection rate with Dual Mesh in kidney transplant patients, these differences were not statistically significant. Therefore, no definitive advantage of one mesh type over the other can be concluded from the data.

PMID:39921758 | DOI:10.1007/s10029-025-03275-1

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Clinical and epidemiological differences in staphylococcal osteoarticular infections: insights for developing hospital-based infection control interventions

Eur J Orthop Surg Traumatol. 2025 Feb 8;35(1):66. doi: 10.1007/s00590-025-04184-w.

ABSTRACT

PURPOSE: Osteoarticular infections (OAI) are serious clinical conditions with Staphylococcus aureus and Coagulase-negative Staphylococcus (CoNS) responsible for up to two-thirds of cases. This work aimed to compare the epidemiological, clinical, and microbiological characteristics of OAI caused by S. aureus versus CoNS to aid in clinical management and infection control strategies.

METHODS: A single-centre retrospective study was performed at the Centro Hospitalar e Universitário de Coimbra for the period of January 2011 to December 2021. A total of 458 cases of OAI were gathered. Data was retrieved from medical records and statistical analysis was performed with SPSS.

RESULTS: S. aureus accounted for 60.7% of infections, followed by S. epidermidis (29.9%). Independent risk factors for S. aureus infections included being male (p < 0.001; OR = 0.47) and a history of osteomyelitis (p < 0.001; OR = 0.18). In contrast, CoNS infections were associated with older age (p = 0.018), carrying a prosthetic device (p < 0.001; OR = 2.92), and a prior periprosthetic infection (p = 0.023; OR = 1.86). Both groups exhibited significant antimicrobial resistance, with CoNS showing greater resistance to gentamicin, linezolid, teicoplanin and trimethoprim-sulfamethoxazole, while S. aureus was more commonly resistant to clindamycin.

CONCLUSION: Our findings show the distinct characteristics of OAI caused by S. aureus and CoNS, highlighting the need for targeted risk factor management and tailored empiric antibiotic therapy to reduce incidence and improve outcomes.

PMID:39921754 | DOI:10.1007/s00590-025-04184-w

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CD8 + T cells may mediate the effect of gut microbiota on psoriasis: evidence from two-step mendelian randomization and bayesian weighting

Arch Dermatol Res. 2025 Feb 8;317(1):370. doi: 10.1007/s00403-025-03857-0.

ABSTRACT

Emerging research indicates that gut microbiota and the associated immune responses are crucial in the development of chronic inflammatory skin diseases. This investigation employs Mendelian Randomization (MR) and Bayesian weighting to elucidate the causal links between gut microbiota, immune cells, and psoriasis, with a specific emphasis on CD8 + T cells. We leveraged summary statistics from genome-wide association studies (GWAS) related to gut microbiota, immune cells, and psoriasis. Single nucleotide polymorphisms (SNPs) were chosen as instrumental variables (IVs) to evaluate causal relationships through various MR methods, such as inverse variance weighted (IVW), MR Egger, weighted median, and simple mode. Additionally, Bayesian weighting was used to validate results and account for potential pleiotropy. The IVW analysis revealed significant associations between certain gut microbiota and psoriasis, notably identifying a protective link between Escherichia coli and psoriasis. Further MR analysis demonstrated that Escherichia coli had a causal relationship with CD8 + T cells. Increased levels of CD8 + T cells were associated with a higher risk of psoriasis. BWMR analysis confirmed these findings, showing that CD8 + T cells mediated 10.09% of the protective effect of Escherichia coli on psoriasis. This study underscores the significant role of Escherichia coli and CD8 + T cells in psoriasis, suggesting both protective and exacerbating effects. Understanding these microbiota-immune interactions can lead to the development of more effective, personalized treatments and preventative strategies, ultimately improving patient outcomes and quality of life.

PMID:39921729 | DOI:10.1007/s00403-025-03857-0

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The association between polypharmacy and disease control in rheumatoid arthritis and systemic lupus erythematosus: a cohort study

Rheumatol Int. 2025 Feb 8;45(3):44. doi: 10.1007/s00296-025-05804-8.

ABSTRACT

Polypharmacy can be associated with poor outcomes in chronic diseases. Our objective is to determine the prevalence of polypharmacy and its association with disease control in patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). An observational study was conducted using the SARD database of the CHU de Québec. Participants newly diagnosed with RA or SLE enrolled in the database after 24 months were included. Collected data included number and type of medications, Charlson Comorbidity Index, and medication adherence (proportion of days covered during the first 180 days). Polypharmacy was defined as the simultaneous use ≥5 medications. Multivariable logistic and linear regressions were used to determine the association between polypharmacy and disease control (DAS28CRP, SLEDAI-2 K). The study included 111 participants (RA = 81; SLE = 30). Medication count increased at two years in RA (mean ± SD): 4.6 ± 3.3 to 6.9 ± 3.6; and SLE: 6.5 ± 4.6 to 7.80 ± 4.82. Polypharmacy prevalence increased at two years: RA: from 43 to 74%; SLE: from 47 to 73%. Mean medication adherence exceeded 85%. For RA participants, polypharmacy was associated with a better DAS28CRP score at one year [adjusted odds ratio of achieving a poor outcome: 0.17 (95%CI 0.04-0.71)], but this association was lost at two years [2.88 (0.45-18.29)]. For SLE, polypharmacy was not associated with disease activity based on the SLEDAI-2 K at one year [7.36 (0.26-211.16)] or two years [0.32 (0.05-1.99)]. Overall, polypharmacy is very prevalent in RA and SLE and could be positively associated with the level of disease control in the year after a diagnosis of RA.

PMID:39921727 | DOI:10.1007/s00296-025-05804-8

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The neutrophil-to-lymphocyte ratio and the prevalence of cutaneous melanoma: a retrospective observational study of NHANES statistics spanning 1999 to 2018

Arch Dermatol Res. 2025 Feb 8;317(1):377. doi: 10.1007/s00403-025-03899-4.

ABSTRACT

This study aimed to investigated the association between the ratio of neutrophils to lymphocytes (NLR) and cutaneous melanoma (CM) and to determine the association between the NLR and the prevalence of CM. A retrospective observational study involving 62,102 individuals over the age of 18, drawn from the National Health and Nutrition Examination Survey (NHANES), which was carried out over the period from 1999 to 2018. NLR derived from laboratory data, while CM diagnosis was based on participants’ self-reports. The relationship between the NLR and CM was assessed using weighted logistic regression analyses, complemented by restricted cubic spline analyses. The study encompassed a total of 336 adults afflicted with CM and 49,621 adults free from CM. The findings exposed a correlation between the NLR and the occurrence of CM, having an odds ratio (OR) of 1.63 (95% confidence interval [CI]: 1.07 to 2.48; p = 0.022). Moreover, the restricted cubic spline model showed a non-linear pattern between the NLR and CM. Overall, we found that the NLR was positively associated with the prevalence of CM. Our findings highlight that NLR may be a systemic inflammation waring marker for CM in US individuals.

PMID:39921722 | DOI:10.1007/s00403-025-03899-4