Background: Conditions associated with BRCA1/2 pathogenic (PVs) or likely pathogenic variants (LPVs) are often severe. The early detection of carrier status is ideal, as it provides options for effective case management. Materials and Methods: The study involved 58 patients with a personal and familial history of breast cancer (BC) who underwent genetic testing at the Regional Centre for Medical Genetics Dolj over a three-year period. An immunohistochemical panel (HER2, ER, PR, and Ki-67) was used to define the molecular subtypes of breast tumors. The AmpliSeq for Illumina BRCA Panel was used to evaluate germline variants in the BRCA1 and BRCA2 genes in patients with BC. The χ² test and Fisher’s exact test were used to compare the different parameters studied. Results: Our findings revealed that 15.5% of the patients carried either BRCA1 or BRCA2 PVs or LPVs. BRCA1 carriers had aggressive tumors whereas BRCA2 carriers had rather low-grade tumors. Conclusions: The study revealed that PVs in both BRCA genes have a significant frequency among BC patients in our region, and BRCA1 carriers tend to develop more aggressive tumors than carriers of BRCA2 PVs and patients with no germline PVs in either of the two genes. These observations could provide new epidemiologic data for this disease in our region and contribute further to the development of national screening strategies.

Background/Objectives: Pulmonary tuberculosis (TB) is accompanied by inflammation-driven hypercoagulability and increased venous thromboembolism risk. We investigated whether the natural anticoagulants protein C and free protein S are reduced in active TB and whether baseline levels are associated with bacillary burden, treatment response, CT evolution, and pulmonary embolism (PE). Methods: We conducted a prospective cohort study in Romania, including 63 adults with newly diagnosed, bacteriologically confirmed, drug-susceptible pulmonary TB and 30 TB-free controls (October 2024–December 2025). Venous blood was collected at baseline (before anti-TB therapy) and at 6 months to quantify inflammatory and coagulation parameters, protein C, and free protein S. Sputum AFB smear was assessed at baseline, 2 months, and 6 months; chest CT was performed at baseline and 6 months. Propensity score matching (age, sex, BMI, smoking) and multivariable regression were used to account for confounding. Logistic regression and ROC analyses evaluated the prediction of BK persistence. Results: Compared with controls, TB patients had substantially lower baseline protein C and free protein S levels, and higher D-dimer levels (all p < 0.001). In matched multivariable models, TB status remained independently associated with lower baseline natural anticoagulant levels. Lower baseline protein C and free protein S clustered with higher inflammatory markers and higher bacillary burden, and independently predicted BK persistence at 2 and 6 months (OR per 1%-point increase ~0.93–0.95 for protein C and ~0.92–0.94 for free protein S; all p < 0.001). Discrimination for BK persistence was high (AUCs ~0.88–0.89). Lower baseline levels of natural anticoagulants were also associated with greater residual CT abnormalities at 6 months. PE cases had significantly lower protein C and free protein S than PE-free patients. Conclusions: Active pulmonary TB is associated with marked depletion of protein C and free protein S. Baseline reductions identify patients with higher inflammatory/coagulation activation, higher bacillary burden, delayed microbiological clearance, more residual CT disease, and PE, supporting their potential role as adjunct risk-stratification biomarkers.

Colorectal cancer (CRC) is a leading cause of cancer-related morbidity and mortality, influenced by both genetic and epigenetic factors. Long non-coding RNAs (lncRNAs) such as GAS5 and CASC8 have been implicated in cancer susceptibility. This study aimed to assess the association of GAS5 rs145204276 ins/del and CASC8 rs10505477 A>G polymorphisms with CRC risk in a Romanian population. A case-control study was conducted, including 156 CRC patients and 195 healthy controls. Genotyping for GAS5 and CASC8 polymorphisms was performed using real-time PCR, and the association with CRC risk was evaluated using logistic regression to calculate odds ratios (OR) and 95% confidence intervals (CI). The carriers of GAS5 rs145204276 del allele was significantly associated with increased CRC risk (OR: 2.13, 95% CI: 1.24–3.63, p = 0.005) in a dominant model. In the subgroup analysis, the association of GAS5 rs145204276 ins/del polymorphism was restricted to distal colon cancer cases (OR: 2.98, 95% CI: 1.57–5.66, p = 0.001), advanced tumor stages (III + IV) (OR: 2.54, 95% CI: 1.31–4.91, p = 0.007), and poorly differentiated tumors (G3) (OR: 3.98, 95% CI: 1.49–10.59, p = 0.009). No significant correlation was found for the CASC8 rs10505477 A>G polymorphism. GAS5 rs145204276 polymorphism may influence CRC susceptibility, particularly in distal tumors and advanced stages. However, CASC8 rs10505477 polymorphism showed no association with CRC risk in this Romanian cohort.

Background/Objectives: The first reimbursed prescription for palbociclib (Palbo) in breast cancer patients in Romania was issued in July 2018. The objective of this study is to assess the efficacy, safety, and adherence to Palbo in combination with aromatase inhibitor (AI) or fulvestrant in a real-world cohort of HR+/HER2− breast cancer patients from Romania. Methods: A retrospective analysis of reimbursed Palbo prescriptions was conducted using data extracted from the electronic database of the Romanian Health Insurance House, Dolj County, for disease code 124 (breast cancer), covering the period from 2018 to 2023. The primary outcome assessed was time to treatment discontinuation (TTD), with secondary outcomes including overall survival (OS) and Palbo adherence (which was measured by medication possession ratio). Results: A total of 125 patients were identified, with a median age of 62 years (IQR, 53–70), and 98% were female. Two treatment combinations were observed: Palbo + Aromatase Inhibitor (AI) in 104 patients (83.2%) and Palbo + fulvestrant in 21 patients (16.8%). The median TTD for the entire cohort was 19 months (95%CI, 19.3–24.9 months). In patients treated with Palbo + AI, the median TTD was not available/reached [NA] (95%CI, 36.0-NA months). For those receiving Palbo+fulvestrant, the median TTD was 25.0 months (95%CI, 13.0-NR months). No significant differences in TTD were observed among the two treatment combinations (χ² = 1.33, df = 1, log-rank p = 0.249). The 12- and 36-month TTD rates were higher for Palbl combined with AI than combined with fulvestrant: 77.8% [95%CI, 69.7–86.7%] vs. 71.8% [95%CI, 53.6–96.2%], and 56.3% [95%CI, 45.9–69%] vs. 49.7% [95%CI, 29.7–83.2%], respectively. The median OS was 38 months (95%CI, 25.5–50.9). When treatment involved Palbo + AI, the median OS was NA (95%CI, 54.8-NA) months. When treatment involved Palbo + fulvestrant, the median was 50.8 (95%CI, 34.1-NA) months. Related to OS, no significant differences were found between the two types of treatments (log-rank p = 0.638). The 24- and 36-month OS rates were higher for Palbo combined with AI than combined with fulvestrant: 76.9% [95%CI, 69.2–85.5%] vs. 81% [95%CI, 65.8–99.6%], and 67.9% [95%CI, 59.2–77.8%] vs. 65.3% [95%CI, 47.4–90.0%], respectively. The mean adherence in our study was 0.91 ± 0.1. We found no correlation between adherence to Palbo and OS (Spearman’s rho = 0.04, p = 0.593). Conclusions: While both AI and fulvestrant remain viable options, the lack of significant differences in survival between these combinations suggests that treatment choice can be tailored to individual patient needs.

Colistin resistance is an increasing concern in critically ill adults, but reported rates, clinical consequences, laboratory detection, and resistance mechanisms vary widely between studies. This systematic review evaluated epidemiological, clinical, laboratory, and molecular evidence on colistin resistance in adult intensive care populations. MEDLINE/PubMed, the Cochrane Library, Scopus, and Web of Science Core Collection were searched, and the findings were synthesised descriptively because of substantial differences between studies. A total of 120 studies were included. In studies using BMD in broader ICU populations, colistin non-susceptibility ranged from approximately 0.3–57.4% at the isolate level, while patient-level carriage/acquisition estimates ranged from approximately 1.2% to 9.4%. Clinical studies often reported poorer outcomes in patients with colistin-resistant infections. However, the strength and direction of these associations were inconsistent, and most comparative analyses had substantial risk of bias. Laboratory methods influenced resistance detection, while heteroresistance required specific testing approaches. Molecular studies identified several resistance pathways, including mcr genes, mgrB disruption, regulatory alterations, clonal spread, and within-host evolution. Overall, colistin resistance in critical care is highly heterogeneous and should be interpreted according to the clinical, microbiological, and epidemiological context.

Background/Objectives: Rapid molecular detection of antimicrobial resistance determinants has the potential to optimize antimicrobial therapy before conventional antimicrobial susceptibility testing becomes available. However, the clinical utility of these assays depends on the concordance between detected resistance genes and phenotypic susceptibility. This study aimed to evaluate the genotype–phenotype concordance of carbapenemase and β-lactamase genes detected by the Unyvero multiplex-PCR platform with minimum inhibitory concentration (MIC)-based susceptibility profiles obtained using the phenotypic AST comparator method in Gram-negative clinical isolates. Methods: A total of 117 non-duplicate Gram-negative clinical isolates recovered from hospitalized patients at a Romanian tertiary-care hospital were analyzed. Resistance determinants, including blaKPC, blaOXA-48, blaOXA-23, blaCTX-M, blaTEM, together with aminoglycoside, fluoroquinolone, and sulfonamide resistance markers, were identified using the Unyvero multiplex-PCR system. Phenotypic antimicrobial susceptibility testing was performed using the VITEK^®2 automated system according to EUCAST criteria. Genotype–phenotype concordance was evaluated using sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and Cohen’s κ coefficient. Results: Overall, 78.8% (78/99) of isolates were classified as non-susceptible. blaOXA-48 was the most frequently detected carbapenemase gene (n = 12), followed by blaKPC (n = 9) and blaOXA-23 (n = 3). blaKPC demonstrated a sensitivity of 100% for predicting imipenem resistance in Enterobacterales, with moderate agreement (κ = 0.58), whereas blaOXA-23 showed complete diagnostic performance (100% sensitivity and PPV) for carbapenem resistance in Acinetobacter baumannii. In contrast, all blaOXA-48-positive Enterobacterales remained phenotypically susceptible to carbapenems, indicating poor genotype–phenotype concordance. Likewise, blaCTX-M, gyrA83/87, and qnrA/B/S showed limited diagnostic performance for corresponding phenotypic resistance. Conclusions: Phenotype–genotype concordance varies across resistance determinants and Gram-negative bacterial species. Detection of blaKPC and blaOXA-23 may support early optimization of antimicrobial therapy, whereas blaOXA-48 should be interpreted together with conventional phenotypic antimicrobial susceptibility testing. Integrating rapid molecular diagnostics with phenotypic susceptibility testing may improve antimicrobial stewardship and optimize the management of multidrug-resistant Gram-negative infections.