Search Results (105)

Background/Objectives: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with early onset of clinical manifestations. ASD etiology is highly heterogeneous, with genetic factors being strong determinants of the behavioral problems and neurodevelopmental deficits. Fragile X syndrome (FXS) (OMIM #300624), caused by the transcriptional silencing of the FMR1 gene, represents the most common monogenic cause of autism. Our study included 226 boys with a diagnosis of ASD, for a systematic screening of genetic and epigenetic defects in the FMR1 gene promoter in a Romanian pediatric cohort. Methods: The methods, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and triplet-primed PCR (TP-PCR)/melt curve analysis (MCA), were chosen for their ability to detect the methylation anomalies (the former) as well as repeat expansions in the FMR1 promoter (the latter). Results: Both methods used in our screening generated concordant results, detecting FMR1 full mutation in 4 out of 226 patients (~1.8%). This yield is similar to data obtained in larger studies. Three out of four boys presented the typical clinical features, in correlation with genetic findings. Conclusions: The combined use of MS-MLPA and TP-PCR/MCA-based assay was, in our experience, useful to fully describe the genetic defects responsible for FXS. A significant variability of clinical presentations was observed in our small group of children with FXS, from mild to severe intellectual disability and from atypical to characteristic dysmorphic features, as well as various behavioral problems. Full article

Background/Objectives: This is the first study to examine age-related patterns of meniscal/chondral lesions in women undergoing first-time knee arthroscopy. Methods: We analyzed meniscal tear type/location and evaluated cartilage damage in femoral condyles and the tibial plateau in a medium-sized Romanian cohort (n = 241). Results: Age was associated significantly (p ≤ 0.004) with medial meniscal damage (O.R. = 1.04, 95% CI: 1.01–1.06), medial femoral condyle chondropathy (O.R. = 1.06, 95% CI: 1.03–1.10), and medial tibial plateau chondropathy (O.R. = 1.07, 95% CI: 1.02–1.12). Medial meniscus tear patterns differed significantly between age groups (p < 0.001, Cramér’s V = 0.32). Bucket-handle tears—the most common tear type—peaked in middle age (p < 0.001, Cramér’s V = 0.30). The two menisci showed different distributions of tear patterns in women aged ≥40 years (p ≤ 0.023, Cramér’s V ≤ 0.41). Meniscal tears most commonly involved the posterior third. The distribution of tear sites in menisci (medial vs. lateral) varied significantly in women aged 40–59 years (p = 0.020, Cramér’s V = 0.28). The medial femoral condyle and medial tibial plateau showed significant intergroup differences in ICRS scores (p ≤ 0.024, Cramér’s V ≤ 0.34). The frequency of ICRS grade 4 cartilage lesions increased markedly in the 40–59 age group at both sites, continuing to rise in older patients for the medial tibial plateau. Conclusions: Knee pathology in women worsens with age, especially in the medial compartment. Early screening (intervention) in middle-aged women may help prevent advanced joint damage. Full article

Background/Objectives: Maternal dietary behaviors, including meal frequency patterns, may influence fetal growth. This study examined the associations between maternal meal frequency patterns during pregnancy—categorized as structured, moderately irregular, or highly irregular—and neonatal anthropometric outcomes, including weight, length, head, chest, and abdominal circumferences, and Apgar score. A secondary objective was to assess whether maternal education and household income modify these associations. Methods: This cross-sectional study included 1025 mother–newborn pairs from a socioeconomically diverse Romanian cohort. Maternal meal frequency patterns were classified based on self-reported weekly consumption. Neonatal anthropometric outcomes were obtained from medical records. Multivariable linear regression models, adjusted for maternal and neonatal characteristics, assessed the associations between meal frequency patterns and birth outcomes. Interaction terms evaluated effect modification by maternal education and income. Results: Structured maternal meal frequency patterns were associated with a slight but significant reduction in neonatal length compared to highly irregular patterns (β = −0.36 cm; 95% CI: −0.68 to −0.04; p = 0.02). A borderline inverse association with birth weight was also observed (β = −63.82 g; 95% CI: −128.87 to 1.23; p = 0.05). No significant differences were found for other anthropometric indicators or Apgar score. Maternal education modified the association between moderately irregular patterns and chest circumference (β = 0.15 cm; 95% CI: 0.04 to 0.25; p = 0.003), while household income modified the association with abdominal circumference (β = 0.14 cm; 95% CI: 0.02 to 0.26; p = 0.02). Conclusions: Maternal meal frequency patterns were modestly associated with neonatal length, while socioeconomic factors modified specific anthropometric outcomes. These findings highlight the importance of considering social context in prenatal nutritional recommendations. Full article

Introduction: Pertussis, a vaccine-preventable disease caused by Bordetella pertussis, is resurging globally due to declining immunization rates. This study explores the clinical and epidemiological features of pediatric pertussis cases in a regional Romanian hospital amid growing vaccine hesitancy. Methods: We conducted a retrospective cohort study on 99 children diagnosed with pertussis and admitted to Ploiești Pediatric Hospital between January 2024 and January 2025. Demographic, clinical, laboratory, and radiological data were analyzed using SPSS 25.0. Results: The median age was 11 months (IQR 4–25), with 12.1% under two months, and ineligible for the first DTaP dose. Notably, 72.7% of children were unvaccinated; 59.4% had missed scheduled doses. None of the mothers received the DTaP vaccination during pregnancy. Most cases (55.6%) had bilaterally accentuated interstitial patterns on chest X-ray, significantly associated with vaccination status (p = 0.019). The leukocyte count was higher in children with alveolar infiltrates (p = 0.028), and as the number of vaccine doses increased, the leukocyte count tended to slightly decrease (p = 0.022, R = −0.229). PCR confirmation was obtained after a mean of 2.2 days, with 12.1% of cases confirmed post-discharge. Azithromycin was used in 74.7% of cases, with good tolerability. Conclusions: Low pediatric and maternal vaccine uptake was a major contributor to pertussis resurgence in this cohort. Radiological severity correlated with vaccination status, suggesting that vaccination may confer protection not only against infection but also against severe pulmonary involvement. These findings support urgent public health efforts to restore vaccine confidence and coverage, particularly among vulnerable infant populations and expectant mothers. Full article

Generation Z (Gen Z; born 1997–2012) is reshaping global tourism through digital fluency, ethical awareness, and a desire for authentic, sustainable travel experiences. This study surveys 413 Gen Z travelers across France, Portugal, Romania, and the USA to map their booking behaviors, information sources, transport modes, accommodations, dining practices, and leisure activities. The findings reveal a strong preference for independent online bookings and social-media-influenced destination choices (Instagram, TikTok), with air and car travel being used for long-distance journeys and walking/public transit being used for local journeys. Accommodation spans commercial hotels and private rentals, while informal, local dining and nature- or culture-centered leisure prevail. Chi-square tests were performed to identify differences between countries. To reveal distinct traveler segments and their country’s modulations towards sustainability, a hierarchical cluster analysis was performed. The results uncover four segments: “Tech-Active, Nature-Oriented Minimalists” (32.3% in France); “Moderate Digital Planners” (most frequent across all countries, particularly dominant among Romanian respondents); “Disengaged and Indecisive Travelers” (overrepresented in the USA); and “Culturally Inclined, Selective Sustainability Seekers” (>30% in France/Portugal). Although sustainability is widely valued, only some segments of the studied population consistently act on these values. The results suggest that engaging Gen Z requires targeted, value-driven digital strategies that align platform design with the cohort’s diverse sustainability commitments. Full article

Background: Anemia and preeclampsia are common and independently associated with adverse neonatal outcomes. Their combined effect, however, remains insufficiently explored. This study aims to evaluate the impact of second-trimester maternal anemia on neonatal outcomes in pregnancies complicated by preeclampsia, and to assess its predictive value for preterm birth and NICU admission. Methods: We conducted a retrospective cohort study including 3517 singleton births from a Romanian tertiary maternity hospital between October 2023 and December 2024. A total of 295 preeclamptic pregnancies were stratified by anemia severity (none, mild, moderate-to-severe) and compared with 428 matched non-preeclamptic anemic pregnancies matched by closest-neighbor selection. Neonatal outcomes included birthweight, gestational age, anthropometric parameters, Apgar score, preterm birth, and NICU admission. Logistic regression and ROC curve analysis were performed using anemia severity as a predictor. Results: Moderate-to-severe anemia in preeclamptic pregnancies was associated with significantly lower birthweight (2618 ± 461 g), shorter gestational age (36.6 ± 2.0 weeks), and higher preterm birth (41.1%) and NICU admission rates (40.0%) were compared to non-anemic counterparts. Each increase in anemia severity conferred 84% higher odds of preterm delivery (OR = 1.84; AUC = 0.63) and a 49% increase in NICU admission (OR = 1.49; AUC = 0.58). Youden’s indices were 0.25 and 0.14, respectively. Conclusions: Maternal anemia is associated with increased neonatal morbidity in preeclamptic pregnancies, with moderate predictive value for preterm birth. These findings support the integration of early anemia screening and risk stratification into hypertensive pregnancy protocols to improve perinatal outcomes. Full article

Background: Severe asthma, which is characterized by persistent symptoms despite standard therapies, presents a significant clinical challenge. Biologic therapies targeting specific inflammatory pathways offer a potential avenue for achieving disease remission. This retrospective study evaluates the effectiveness of biologic therapies in achieving remission in severe asthma within a central Romanian cohort. Methods: Forty-eight patients with severe asthma treated with omalizumab, benralizumab, or dupilumab (2020–2025) were assessed. Clinical remission was defined using ACT scores, exacerbation frequency, corticosteroid use, and FEV1. Biological remission was determined using FeNO and eosinophil levels. Statistical analysis was performed to compare treatment outcomes. Results: At 12 months, 75% of patients achieved biological remission, and 75% reached clinical remission criteria. Significant improvements were observed in FEV1 (p < 0.001), eosinophil counts (p < 0.001), and ACT scores (p < 0.001). Complete remission, encompassing clinical, biological, and functional normalization, was observed in 54.2% of patients. Conclusion: Biologic therapies demonstrate promise in inducing comprehensive remission in severe asthma, supporting their role in improving disease control and lung function. Further research with larger cohorts is warranted. Full article

Background and Objectives: The worldwide shift toward psychiatric deinstitutionalization has aimed to enhance patient autonomy, social integration, and overall quality of life. However, limited studies have examined how concurrent substance use—particularly alcohol, marijuana, and inhalable drugs—affects clinical outcomes in these populations. This study aimed to evaluate psychiatric patients with varying degrees of institutionalization and investigate whether substance use complicates or exacerbates treatment outcomes. We hypothesized that individuals using substances would demonstrate worse psychosocial functioning, higher healthcare costs, and increased readmission rates. Methods: We performed a cross-sectional study of 95 participants recruited from long-term care facilities. Participants completed the SF-36 survey validated in Romanian. Financial data were collected to gauge direct and indirect healthcare expenditures. Results: Results indicated that 34.7% of participants reported alcohol use, 12.6% used marijuana, and 9.5% used inhalable substances. Substance-using patients experienced higher mean hospitalization costs of approximately USD 3251.8, compared to non-users (USD 2743.6, p = 0.032). Quality-of-life scores were significantly lower among substance users (mean SF-36 score 58.4 vs. 66.7, p = 0.027). Rates of relapse and readmission were also notably higher in the substance-using cohort (42.1%) relative to non-users (29.8%, p = 0.041). Conclusions: To our knowledge, this is the first Romanian study—and one of only a handful in Europe—to quantify how specific substance-use profiles simultaneously alter quality of life and direct healthcare costs in a deinstitutionalized psychiatric population. Our findings highlight the need for integrated interventions targeting both mental health and substance abuse. Full article

Background/Objectives: Lung cancer remains a major cause of cancer-related mortality, with regional differences in incidence and patient characteristics. This study aimed to verify and quantify a perceived dramatic increase in lung cancer cases at a Romanian center, identify distinct patient phenotypes using unsupervised machine learning, and characterize contributing factors, including demographic shifts, changes in the healthcare system, and geographic patterns. Methods: A comprehensive retrospective analysis of 4206 lung cancer patients admitted between 2013 and 2024 was conducted, with detailed molecular characterization of 398 patients from 2023 to 2024. Temporal trends were analyzed using statistical methods, while k-means clustering on 761 clinical features identified patient phenotypes. The geographic distribution, smoking patterns, respiratory comorbidities, and demographic factors were systematically characterized across the identified clusters. Results: We confirmed an 80.5% increase in lung cancer admissions between pre-pandemic (2013–2020) and post-pandemic (2022–2024) periods, exceeding the 51.1% increase in total hospital admissions and aligning with national Romanian trends. Five distinct patient clusters emerged: elderly never-smokers (28.9%) with the highest metastatic rates (44.3%), heavy-smoking males (27.4%), active smokers with comprehensive molecular testing (31.7%), young mixed-gender cohort (7.3%) with balanced demographics, and extreme heavy smokers (4.8%) concentrated in rural areas (52.6%) with severe comorbidity burden. Clusters demonstrated significant differences in age (p < 0.001), smoking intensity (p < 0.001), geographic distribution (p < 0.001), as well as molecular characteristics. COPD prevalence was exceptionally high (44.8–78.9%) across clusters, while COVID-19 history remained low (3.4–8.3%), suggesting a limited direct association between the pandemic and cancer. Conclusions: This study presents the first comprehensive machine learning-based stratification of lung cancer patients in Romania, confirming genuine epidemiological increases beyond healthcare system artifacts. The identification of five clinically meaningful phenotypes—particularly rural extreme smokers and age-stratified never-smokers—demonstrates the value of unsupervised clustering for regional healthcare planning. These findings establish frameworks for targeted screening programs, personalized treatment approaches, and resource allocation strategies tailored to specific high-risk populations while highlighting the potential of artificial intelligence in identifying actionable clinical patterns for the implementation of precision medicine. Full article

Background and Objectives: Blood-borne inflammatory ratios have been proposed as inexpensive prognostic tools across a range of diseases, but their role in pulmonary tuberculosis (TB) remains uncertain. In this retrospective case–control analysis, we explored whether composite indices derived from routine haematology—namely the neutrophil-to-lymphocyte ratio (NLR), the platelet-to-lymphocyte ratio (PLR), the systemic immune–inflammation index (SII) and a novel CRP–Fibrinogen Index (CFI)—could enhance risk stratification beyond established cytokine measurements among Romanian adults with culture-confirmed pulmonary T. Materials and Methods: Data were drawn from 80 consecutive TB in-patients and 50 community controls. Full blood counts, C-reactive protein, fibrinogen, and four multiplex cytokines were extracted from electronic records, and composite indices were calculated according to standard formulas. The primary outcomes were in-hospital mortality within 90 days and length of stay (LOS). Results: Among TB patients, the median NLR was 3.70 (IQR 2.54–6.14), PLR was 200 (140–277) and SII was 1.36 × 10⁶ µL⁻¹ (0.74–2.34 × 10⁶), compared with 1.8 (1.4–2.3), 117 (95–140) and 0.46 × 10⁶ µL⁻¹ (0.30–0.60 × 10⁶) in controls. Those with SII above the cohort median exhibited more pronounced acute-phase responses (median CRP 96 vs. 12 mg L⁻¹; fibrinogen 578 vs. 458 mg dL⁻¹), yet median LOS remained virtually identical (29 vs. 28 days) and early mortality was low in both groups (8% vs. 2%). The CFI showed no clear gradient in hospital stay across its quartiles, and composite ratios—while tightly inter-correlated—demonstrated only minimal association with cytokine levels and LOS. Conclusions: Composite cell-count indices were markedly elevated but did not predict early death or prolonged admission. In low-event European cohorts, their chief value may lie in serving as cost-free gatekeepers, flagging those who should proceed to more advanced cytokine or genomic testing. Although routine reporting of NLR and SII may support low-cost surveillance, validation in larger, multicentre cohorts with serial sampling is needed before these indices can be integrated into clinical decision-making. Full article

Background: Dental erosion is the irreversible loss of tooth structure from acid exposure. Its prevalence is rising globally, making it an important oral health concern. However, longitudinal data from Eastern Europe are scarce, especially in Romania. This pilot study aimed to assess the 10-year incidence of dental erosion in Romanian young adults and to compare clinical index scoring with digital scanning. Methods: A 10-year prospective study followed 540 Romanian adults (aged 18–30) selected with no erosive lesions at baseline (Basic Erosive Wear Examination BEWE = 0). Erosive wear was assessed at the 10-year follow-up using BEWE, with 40 participants also undergoing digital intraoral scanning to measure enamel loss (μm). Gender differences were analyzed. Chi-square tests, relative risk, and correlation analyses were performed. Results: After 10 years, 23.2% of participants developed dental erosion. Males exhibited a higher incidence than females (29.9% vs. 17.2%; RR = 1.74, p < 0.001). Among the scanned subset (n = 40), the mean enamel loss was 137 ± 79 µm, with greater wear on palatal vs. buccal surfaces (p = 0.002). BEWE scores were moderately correlated with digital enamel loss (r = 0.58, p < 0.001). Conclusions: Erosion progressed over time in this cohort, with males at higher risk. Digital scanning detected subtle enamel loss not captured by BEWE, indicating greater sensitivity to early changes. BEWE and digital methods provided complementary information; their combined use offers a more comprehensive assessment. Full article

Primary Sjögren’s syndrome (pSS) exhibits considerable clinical and immunological heterogeneity, complicating personalized management. We aimed to delineate the demographic, functional, serological, histopathological, and therapeutic features of a Romanian pSS cohort and to identify biomarker–treatment correlations that could inform patient-oriented strategies. Thirty-two patients meeting the 2016 ACR/EULAR classification criteria for pSS were retrospectively analyzed. Data collected included demographics, autoantibody profiles (Anti-Ro/SSA, Anti-La/SSB, ANA, RF, Anti-CCP), immunoglobulin levels, complement consumption (C3/C4), minor salivary gland biopsy (focus score), salivary flow tests, and systemic inflammation markers (CRP). Pearson correlation matrices were constructed to explore the associations between serological markers and prescribed therapies. The cohort was predominantly female (87.5%) with a mean age of 52.8 ± 9.9 years. Seropositivity rates were 50% for Anti-Ro/SSA, 77% for Anti-La/SSB, and 40% for ANA. Clinically significant glandular dysfunction was evident in 65% of patients (unstimulated flow ≤ 0.1 mL/min), and all biopsies demonstrated focus scores > 1. Methotrexate use correlated strongly with Anti-Ro/SSA and Anti-La/SSB positivity (p ≤ 0.05), indicating its targeted application in seropositive sub-phenotypes. Conclusion: These findings underscore the immunologic and clinical diversity of pSS and support a biomarker-driven, multidisciplinary framework for personalized treatment. Larger prospective and multicenter studies are warranted to validate these correlations and to refine precision medicine approaches in pSS. Full article

A large cohort of Romanian children suspected of celiac disease (CD) received comprehensive evaluation through this study regarding serological, genetic, and biochemical markers. This study investigated the relationships between anti-tissue transglutaminase (anti-tTG), anti-endomysium antibodies (EMAs), anti-gliadin deamidated (DGP) antibodies, and HLA genotyping. A strong association was observed between high anti-tTG IgA titers (>100 U/mL) and EMA IgA positivity, with a 95% concordance rate. Furthermore, anti-tTG IgA positive correlated with a significant prevalence of DGP antibodies, suggesting the complementary diagnostic role of DGP antibodies in equivocal cases. Genetic testing for HLA-DQ2/DQ8 alleles validated their association with celiac disease susceptibility, with 50% of the studied patients exhibiting these markers. The research reveals that vitamin D insufficiency affects a large number of children with anti-tTG antibodies, thus requiring both screening and supplementation practices. Furthermore, associations with other autoimmune conditions were explored, including thyroid and diabetes-related autoantibodies. This research demonstrates why CD diagnosis and management require a complete approach that combines serological tests with genetic evaluation and prompt intervention for related health conditions. Full article

Background and Objectives: Evidence regarding how dispositional traits, antenatal anxiety, substance use, and obstetric events converge to shape post-partum depression (PPD) in South-East Europe is limited. We analysed 102 third-trimester women and followed them to six weeks post-partum, and 102 age-matched community controls were used to (i) compare baseline psychological profiles, (ii) chart antenatal-to-post-partum symptom trajectories, and (iii) build an integrated model of clinically relevant PPD (Edinburgh Post-natal Depression Scale, EPDS ≥ 12). Materials and Methods: All 96 raw variables were forward–backward translated from Romanian, reconciled, and harmonized. The principal instruments used were EPDS, State–Trait Anxiety Inventory form Y (STAI-Y), Revised Obsessive–Compulsive Inventory (OCI-R), NEO Five-Factor Inventory (NEO-FFI-60), and the four-item Maternal Worry and Satisfaction Scale (MWSS). Results: Groups were age-matched (31.1 ± 5.4 vs. 30.3 ± 5.1 years, p = 0.268) but differed in urban residence (39% vs. 17%, p = 0.001) and current substance use (smoking 21% vs. 34%, p = 0.041; alcohol 6% vs. 22%, p = 0.002). Of five personality domains, only openness scored lower in peripartum women (26.1 ± 4.6 vs. 29.3 ± 5.2, p < 0.001). State anxiety rose significantly from pregnancy to puerperium (+5.1 ± 8.4 points, p < 0.001). Post-partum EPDS correlated most strongly with state anxiety (r = 0.62) and neuroticism (r = 0.50). A final model (pseudo-R² = 0.30) identified post-partum state anxiety (OR 1.10 per point, 95% CI 1.05–1.15, p < 0.001) as the independent predictor; neuroticism showed a trend (OR 1.08, p = 0.081). Obstetric factors (prematurity, birth weight, caesarean section) were not significant. Conclusions: In this Romanian cohort, heightened state anxiety—in synergy with high neuroticism and lower openness—dominated the risk landscape of early onset PPD, whereas delivery mode and neonatal status were neutral. Routine perinatal mental health screening should therefore incorporate anxiety metrics alongside depression scales and brief trait inventories to refine preventive targeting. Full article

(1) Background: Globally, lung cancer is the leading cause of cancer death, but immunotherapy has impressively improved the outcomes, generating longer progression-free survival and overall survival. Endocrine immune-related adverse events (irAEs) are mostly irreversible and need life-long hormonal substitution therapy. The evaluation of the quality of life of lung cancer patients experiencing endocrine toxicities during immune checkpoint inhibitor (ICI) treatment is relevant for both patients and healthcare providers. (2) Methods: This was a prospective cohort study of lung cancer patients treated with immune checkpoint inhibitors in a tertiary-level hospital in Romania from 1 December 2021 to 30 September 2024. Quality of life was assessed using versions of the EORTC QLQ-C30 and EORTC QLQ-LC-13 validated and translated into the Romanian language. We investigated several clinical variables to evaluate their impact on QoL. (3) Results: Fifty-nine lung cancer patients were evaluated for their QoL before ICI initiation and at the end of the study. Endocrine-irAEs occurred in 17 lung cancer patients (28.8%). Quality of life as assessed using the EORTC questionnaires was statistically significantly improved, even in patients experiencing endocrine-irAEs. (4) Conclusions: Our prospective cohort study succeeded in delivering the proof of concept of an increased QoL in lung cancer patients who had developed endocrine-irAEs under immunotherapy. Despite toxicities, especially rather frequent endocrine-irAEs, ICIs enabled durable disease control and symptom relief, improving the QoL of the overall trial population. As more lung cancer patients undergo immunotherapy in metastatic or early stages, we draw attention to this particular patient population with autoimmune endocrinopathies, as they will live longer and require life-long hormonal therapy. Full article