Search Results (2,827)

Background: Functional Neurological Disorder (FND) encompasses conditions with neurological symptoms inconsistent with structural pathology, arising instead from complex interactions between psychological, biological, and social factors. Despite growing research, the etiological and risk factor landscape remains only partially understood, complicating diagnosis and treatment. Objective: This systematic review maps risk factors for major FND subtypes such as functional seizures (psychogenic non-epileptic seizures or PNES), functional cognitive disorder (FCD), functional movement disorders (FMD), functional weakness and sensory disturbances, functional visual symptoms, and functional gait abnormalities by categorizing predisposing, precipitating, and perpetuating influences. Methods: A systematic search of PubMed, PsycINFO, Scopus, and Web of Science initially identified 245 records. After removal of 64 duplicates, 181 studies were screened by title and abstract. Of these, 96 full texts were examined in detail, and finally 23 studies met the predefined inclusion criteria. Data were extracted and analyzed thematically within a biopsychosocial framework, with results summarized in subtype-specific profiles. Results: Childhood adversity, especially emotional, physical, or sexual abuse, emerged as a robust and consistent predisposing factor across PNES cohorts. Psychiatric history (notably anxiety, depression, and PTSD), neurodevelopmental traits (more frequent in FCD), and personality patterns such as alexithymia and somatization also contributed to vulnerability. Precipitating influences included acute psychological stress, intrapersonal conflict, or concurrent medical illness. Perpetuating factors comprise maladaptive illness beliefs, avoidance behaviors, insufficient explanation or validation by healthcare providers, and secondary gains related to disability. While several risk factors were shared across subtypes, others appeared subtype-specific (trauma was especially associated with PNES, whereas neurodevelopmental traits were more characteristic of FCD). Conclusions: FND arises from a dynamic interplay of predisposing, precipitating, and perpetuating factors, with both shared and subtype-specific influences. Recognizing this heterogeneity can enhance diagnostic precision, guide tailored intervention, and inform future research into the neurobiological and psychosocial mechanisms underlying FND. Full article

Background and Objectives: Inflammatory bowel diseases (IBDs) are chronic conditions of the digestive tract, often requiring life-long treatments in order to achieve and maintain remission. However, treatment adherence among patients with IBD can frequently be suboptimal, which can compromise disease control and long-term outcomes. The aim of this study was to analyze the adherence rate and to identify factors that significantly influence treatment adherence in patients with IBD. Materials and Methods: The study employed a cross-sectional design and was conducted at the Fundeni Clinical Institute, a tertiary medical center in Bucharest, Romania. The treatment adherence was assessed using the Medication Adherence Report Scale-5 (MARS-5), with patients scoring greater than 23 considered adherent. Anxiety, depression and perceived stress were assessed using the Depression, Anxiety and Stress Scale-21 (DASS-21). Perceived social support was measured with the Multidimensional Scale of Perceived Social Support (MSPSS), and coping strategies were assessed using the Brief Coping Orientation to Problems Experienced Inventory (Brief COPE Inventory). Results: A total of 188 patients were included in the final analysis. Of these, 99 patients (52.7%) were male and 109 (58.0%) had a diagnosis of Crohn’s disease. The majority of patients (81.9%) were receiving treatment with advanced therapies, including biologics or small molecules. Forty patients were receiving their therapy through more than one route of administration. Optimal adherence was noted in 160 patients (85.1%). Patients treated with advanced therapies (biologics and small molecules) had significantly higher odds of optimal adherence (OR 10.52, 95% CI: 4.3–25.74, p < 0.001), with a rate of adherence of 92.2%. Significantly lower odds of adherence were found for the oral (OR 0.35, 95% CI: 0.14–0.83, p = 0.01) and rectal (OR 0.09, 95% CI: 0.03–0.29, p < 0.001) routes of administration, while the intravenous administration had higher odds of adherence (OR 4.85, 95% CI: 1.02–22.9, p = 0.04) compared to the subcutaneous route. Other factors associated with an improved adherence were being retired (OR 3.5, 95% CI: 1.13–10.8, p = 0.029) and using positive reframing (p = 0.04), planning (p = 0.01) and venting (p = 0.02) as coping strategies; active smoking (OR 0.26, 95% CI: 0.11–0.6, p = 0.002), active disease (OR 0.36, 95% CI: 0.16–0.81, p = 0.014) and behavioral disengagement (p = 0.04) were associated with impaired treatment adherence. No significant differences in adherence were observed between disease phenotypes. Conclusions: The route of administration, smoking status and psychosocial factors, such as perceived stress of social support and coping strategies, may play an important role in influencing treatment adherence in patients with IBD. While the disease phenotype was not associated with differences in adherence, patients with active disease had significantly lower odds of optimal adherence. Full article

Background: Breast cancer is a major health concern in Poland, with significant incidence and mortality rates despite national screening programs. This retrospective study aimed to evaluate critical aspects of breast cancer management, focusing on waiting times, treatment coordination, cancer characteristics, diagnostic testing, and staging. Methods: We retrospectively analyzed 587 medical records of breast cancer patients (585 female, 2 male) collected between March 2023 and June 2024 through a data donation model. Data included tumor characteristics (histological type, grade, stage, biological subtype, receptor status, Ki-67), diagnostic and genetic tests, and timelines of key events in the diagnostic and therapeutic pathways. Results: Although referral to first oncology consult (18 days) and MDT referral/admission to treatment (10 days) met NFZ guidelines, diagnosis to surgery (94 days) and diagnosis to drug treatment (109 days) were significantly delayed. No records showed oncology coordinator assignment or educational material provision. Clinically, invasive carcinoma NST (77%) and early-stage (IA/IIA, 61%) were prevalent, with Luminal B (HER2-negative) being the most common biological subtype. BRCA1/2 testing was common, but Oncotype DX was not. For 314 HR+ HER2- patients, stage IA (44%) was most common, with no BRCA1/2 mutations found. Conclusion: Breast cancer care in the Łódź voivodeship falls short of national guidelines due to long waiting times and poor care coordination, a problem worsened by incomplete data. Improving record-keeping and speeding up diagnostic and treatment pathways are crucial for better breast cancer management in Poland. While patient data donation can help analyze real clinical pathways, data completeness, and consistency remain challenges. Full article

Persistent luminescence nanoparticles (PLNPs) represent a unique class of optical materials. They possess the ability to absorb and store energy from external excitation sources and emit light persistently once excitation terminates. Because of this distinctive property, PLNPs have attracted considerable attention in various areas. Especially in recent years, PLNPs have revealed marked benefits and extensive application potential in fields such as biological detection, imaging, targeted delivery, as well as integrated diagnosis and treatment. Not only do they potently attenuate autofluorescence interference arising from biological tissues, but they also demonstrate superior signal-to-noise ratio and sensitivity in in vivo imaging scenarios. Therefore, regarding the current research, this paper firstly introduces the classification, synthesis methods, and luminescence mechanism of the materials. Subsequently, the research progress of PLNPs in biological detection and imaging and medical treatment in recent years is reviewed. The challenges faced by materials in biomedical applications and the outlook of future development trends are further discussed, which delivers an innovative thought pattern for developing and designing new PLNPs to cater to more practical requirements. Full article

Background and Objectives: Spitz tumors represent a diagnostic challenge in dermatopathology due to their large spectrum of morphological characteristics and overlap with malignant lesions, especially in pathology departments where molecular pathology is not available. Even though most Spitz lesions are benign, the uncertainty around their biological behavior necessitates an integrated approach in daily practice. The objective of our study was to evaluate the epidemiological, macroscopic, and histopathological characteristics of Spitz lesions in accordance with WHO Classification of Skin Tumours. Materials and Methods: We performed a retrospective, descriptive, and hypothesis-generating study on Spitz tumors diagnosed between 2018 and 2024 in the Clinical Pathology Department of the Mures Clinical County Hospital, Romania. We included 10 cases and analyzed their macroscopic characteristics (localization, shape, dimension, and color), microscopic characteristics (cellular types, cytologic atypia, pagetoid migration, mitoses, and the type of lesion), and immunohistochemical profile. Results: The study population was composed of young patients with an average age of 20.2 years old, with a slight predominance of female gender. Most lesions were Spitz nevi, intradermic, or compound, with a fusiform, epithelioid, or rhomboid cell shape. Pagetoid migration and cytological atypia were seen in fewer cases. The Ki 67 proliferation index was under 5% in all cases. The main limitation of this study involved the low number of cases and the lack of molecular testing, which limited the molecular characterization of Spitz tumors. Complete excision was performed in all cases. Conclusions: In the absence of molecular testing, our study emphasizes the importance of clinical–morphological assessment using immunohistochemistry in establishing a correct diagnosis in Spitz lesions. Our results confirm that most of the Spitz lesions were benign and provide a basis for future research with a multidisciplinary approach, including molecular testing. Full article

This retrospective longitudinal study evaluated the significance of cholestasis syndrome and the diagnosis of primary sclerosing cholangitis (PSC) in inflammatory bowel disease (IBD) patients from a tertiary center in Romania. Methods: From 2011 to 2022, 3767 patients suspected for IBD were evaluated, with 2499 confirmed cases. Of these, 34 patients (1.36%) had an IBD-PSC phenotype. Of the IBD-PSC cases, 56% were associated with UC and 44% with CD. Results: Enzymatic cholestasis was observed in 13.3% of IBD patients, with gamma-glutamyl transpeptidase (GGT) elevated in 70.2% and alkaline phosphatase (ALP) in 51.3%. However, only 10.2% of the patients with enzymatic cholestasis were diagnosed with PSC. Other liver diseases identified included metabolic-associated steatotic liver disease (MASLD), chronic viral hepatitis, Primary Biliary Cholangitis, autoimmune hepatitis, and liver neoplasms. A higher incidence of cholangiocarcinoma (11.76% vs. 0.24%, p < 0.001) and liver-related death (8.82% vs. 0.65%, p < 0.001) was found between IBD-PSC patients and those without PSC. PSC-CD patients were diagnosed at a younger age (30.2 vs. 43 years, p < 0.001), had higher rates of severe disease (73.3% vs. 10.5%, p < 0.001), required more biological treatment (60% vs. 15.7%, p < 0.001), and experienced higher mortality (20% vs. 0%, p < 0.001). Discussions: This study represents the most extensive cohort analysis of PSC-IBD patients in Romania and Eastern Europe, highlighting clinical differences between PSC-UC and PSC-CD phenotypes. Conclusions: The regular monitoring of ALP and GGT in IBD patients helps detect liver diseases, including PSC. However, only one in ten patients with IBD and enzymatic cholestasis was diagnosed with PSC. Full article

Amyotrophic lateral sclerosis (ALS) is still a heterogeneous neurodegenerative disorder that can be identified clinically and biologically, without a strong set of biomarkers that can adequately measure its fast rate of progression and molecular heterogeneity. In this review, we intend to consolidate the most relevant and timely advances in ALS biomarker discovery, in order to begin to bring molecular, imaging, genetic, and digital areas together for potential integration into a precision medicine approach to ALS. Our goal is to begin to display how several biomarkers in development (e.g., neurofilament light chain (NfL), phosphorylated neurofilament heavy chain (pNfH), TDP-43 aggregates, mitochondrial stress markers, inflammatory markers, etc.) are changing our understanding of ALS and ALS dynamics. We will attempt to provide a framework for thinking about biomarkers in a systematic way where our candidates are not signals alone but part of a tethered pathophysiological cascade. We are particularly interested in the fast progressor phenotype, a devastating and under-characterized subset of ALS due to a rapid axonal degeneration, early respiratory failure, and very short life span. We will try to highlight the salient molecular features of this ALS subtype, including SOD1 A5V toxicity, C9orf72 repeats, FUS variants, mitochondrial collapse, and impaired autophagy mechanisms, and relate these features to measurable blood and CSF (biomarkers) and imaging platforms. We will elaborate on several interesting tools, for example, single-cell transcriptomics, CSF exosomal cargo analysis, MRI techniques, and wearable sensor outputs that are developing into high-resolution windows of disease progression and onset. Instead of providing a static catalog, we plan on providing a conceptual roadmap to integrate biomarker panels that will allow for earlier diagnosis, real-time disease monitoring, and adaptive therapeutic trial design. We hope this synthesis will make a meaningful contribution to the shift from observational neurology to proactive biologically informed clinical care in ALS. Although there are still considerable obstacles to overcome, the intersection of a precise molecular or genetic association approach, digital phenotyping, and systems-level understandings may ultimately redefine how we monitor, care for, and treat this challenging neurodegenerative disease. Full article

Melanoma is a type of skin cancer with high lethality and increasing incidence. Current treatments typically involve surgery as the first step, followed by adjuvant treatments, which are necessary in most cases. These adjuvant treatments may include radiotherapy, phototherapy, chemotherapy, immunotherapy, and combined therapies. However, patients with melanoma still face great difficulties, such as the inefficiency of therapies and serious side effects, in addition to uncomfortable scars. Most of these problems are related to limitations of antitumor therapies, such as the low bioavailability of drugs, degradation in biological fluids, rapid clearance, difficulty in reaching the tumors, the low capacity for accumulation and infiltration in tumor cells, toxicity to healthy cells, and systemic action. Thus, antitumor therapy for melanoma remains a challenge. In this line, nanotechnology has brought new perspectives and has been the subject of intensive research on the use of nanoparticles (liposomes, lipid nanoparticles, polymeric nanoparticles, inorganic nanoparticles, carbon nanotubes, dendrimers, nanogels, and biomimetic nanoparticles, among others) as carriers for the controlled release of drugs and tumor diagnosis. This work outlines the main limitations of current melanoma therapies and explores how nanoparticle-based drug delivery systems can overcome these challenges, highlighting recent research and clinical developments. Full article

Burning mouth syndrome (BMS) and oral lichen planus (OLP) are two chronic oral diseases/disorders that continue to pose a challenge for conventional diagnosis and treatment. Both diseases do not occur in isolation but rather appear to reflect a broader interplay of psychological, neurological, endocrine, and immunological factors, i.e., complex disorders in interconnected biological and psychological systems. In BMS, patients often suffer from persistent burning sensations without visible lesions, which may be related to altered pain processing, emotional stress, and dysregulation in the brain regions responsible for interoception and perception. Although OLP is primarily characterised by immune-mediated mucosal damage, it often has significant psychological comorbidity, particularly in the erosive form. Common features such as cortisol imbalance, disturbed cytokine patterns, and high levels of anxiety and depression suggest that these conditions may be due to overlapping systemic disorders. It is no longer sufficient to focus only on the visible lesions or symptom relief. Understanding these diseases/disorders through a more comprehensive psychoneuroendocrine immune system (PNEI) opens up new opportunities for early intervention, improved diagnostics, and more personalised therapeutic strategies that go beyond treating symptoms. Ultimately, these diseases/disorders require a more integrated and patient-centred approach, where understanding the whole system is as important as treating its individual parts. Full article

To identify the root-knot nematodes (RKNs) infecting onions in Yuanmou County, Yunnan Province, morphological and molecular biological techniques were used. Observation of their life cycle and pathogenicity was conducted through artificial inoculation experiments in a greenhouse. The results show that the morphological characteristics and measurement data of the second-stage juveniles (J2s) and females of RKNs infecting onion roots are highly consistent with those of Meloidogyne graminicola (M. graminicola). Sequence alignment of the mitochondrial DNA (mtDNA) COXI region and 28S rDNA D2-D3 region revealed sequence similarities of 99.51–100.00% and 99.48–99.61%, respectively, compared with M. graminicola sequences from GenBank. The specific primers Mg-F3/Mg-R2 reliably amplified a characteristic 369 bp band. Inoculation experiments confirmed that the pathogen can complete its entire life cycle (approximately 26 days (ds)) on the roots of healthy onion seedlings, inducing typical root-knot symptoms and females. In conclusion, the pathogen was identified as M. graminicola, which is the first report of M. graminicola infecting onions in China. This study provides important theoretical support for the molecular diagnosis of onion root-knot nematode disease and the green control of Allium L. vegetables in China. Full article

Background: Pigmented villonodular synovitis (PVNS), also known as tenosynovial giant cell tumor, is a rare proliferative disorder of the synovial membrane that primarily affects the knee joint. Despite advances in imaging and surgical techniques, diagnosis is often delayed, and optimal treatment remains debated. Methods: A Narrative review was conducted according to PRISMA guidelines using PubMed, MEDLINE, and Scopus databases from January 2000 to December 2024. Studies reporting on epidemiology, clinical features, imaging, treatment, and outcomes of PVNS were included. Results: Sixty-six studies encompassing 120 patients were included. The majority of cases were diffuse PVNS. MRI was the most effective imaging tool. Arthroscopic synovectomy was the most common treatment, though recurrence rates remained high, particularly in diffuse forms. Adjuvant treatments, including radiosynoviorthesis and biologic therapies such as infliximab or pexidartinib, were employed in recurrent or unresectable cases. Conclusions: Early diagnosis and complete surgical excision remain the mainstay of treatment. Combined open and arthroscopic approaches are recommended in diffuse PVNS. Further prospective studies are needed to define optimal long-term management. Full article

Multiple myeloma (MM) is a malignant plasma cell disorder that evolves from precursor conditions including monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). Understanding the biological continuum and the molecular drivers of disease progression is crucial for early diagnosis and risk-adapted therapy. Recent advances in next-generation sequencing have identified recurrent mutations in the RAS/MAPK, TP53, and MYC pathways, along with epigenetic alterations that contribute to clonal evolution and therapeutic resistance. Novel diagnostic tools including minimal residual disease (MRD) assessment, gene expression profiling, and advanced imaging have improved risk stratification. Therapeutically, the integration of proteasome inhibitors, immunomodulatory drugs, and anti-CD38 monoclonal antibodies has dramatically improved patient outcomes. In parallel, emerging immunotherapies such as CAR-T cells, bispecific T-cell engagers, and antibody–drug conjugates are expanding treatment options, especially in relapsed or refractory settings. Future directions aim to personalize treatment using genomics, target the tumor microenvironment, and leverage synthetic lethality and epigenetic vulnerabilities. This review highlights the evolving landscape of plasma cell disorders from molecular pathogenesis to cutting-edge therapeutic innovations, emphasizing the need for precision medicine approaches to improve survival and quality of life for patients with MM and its precursors. Full article

Frailty is a complex biological process that is associated with adverse outcomes in community-dwelling and hospitalized patients. While clinical evaluation is the current gold standard for screening and diagnosis, such an approach is not without its limitations (such as personnel and resource requirement). In this review, we will discuss prospective biomarkers for frailty. Opportunistic and deliberate radiological testing could provide important information that complements clinical frailty evaluation. Novel biochemical panels may yield additional methods for frailty screening in the future. It is known that early frailty intervention could lead to better outcomes for patients. Integration of electronic medical records, laboratory and radiological results, as well as clinical informatics infrastructure could result in augmented clinical decision-making and more optimized healthcare resources utilization. Full article

PR/SET domain 2 (PRDM2)/RIZ is a member of the histone/protein methyltransferases (PRDMs) superfamily. Discovered to have the ability to bind retinoblastoma in the mid-1990s, PRDM2 was assumed to play a role in neuronal development. Like other family members characterized by a conserved N-terminal PR structural domain and a classical C2H2 zinc-finger array at the C-terminus, PRDM2 encodes two major protein types, the RIZ1 and RIZ2 isoforms. The two subtypes differ in the presence or absence of the PR domain: the RIZ1 subtype has the PR domain, whereas the RIZ2 subtype lacks it. The PR domain exhibits varying conservation levels across species and shares structural and functional similarities with the catalytic SET domain, defining histone methyltransferases. Functioning as an SET domain, the PR domain possesses protein-binding interfaces and acts as a lysine methyltransferase. The variable number of classic C2H2 zinc fingers at the C-terminus may mediate protein–protein, protein–RNA, or protein–DNA interactions. An imbalance in the RIZ1/RIZ2 mechanism may be an essential cause of malignant tumors, where PR-positive isoforms are usually lost or downregulated. Conversely, PR-negative isoforms are always present at higher levels in cancer cells. RIZ1 isoforms are also important targets for estradiol interaction with hormone receptors. PRDM2 can regulate gene transcription and expression combined with transcription factors and plays a role in the development of several systemic diseases through mRNA expression deletion, code-shift mutation, chromosomal deletion, and missense mutation occurrence. Thus, PRDM2 is a key indicator for disease diagnosis, but it lacks systematic summaries to serve as a reference for study. Therefore, this paper describes the structure and biological function of PRDM2 from the perspective of its role in various systemic diseases. It also organizes and categorizes its latest research progress to provide a systematic theoretical basis for a more in-depth investigation of the molecular mechanism of PRDM2’s involvement in disease progression and clinical practice. Full article

Liver cirrhosis represents the end-stage of chronic hepatic injury, arising from a diverse range of etiologies including viral hepatitis, alcohol abuse and non-alcoholic fatty liver disease. A key driver of cirrhosis is hepatic fibrogenesis, a multifaceted process involving hepatic stellate cell activation, inflammatory signaling and extracellular matrix accumulation. MicroRNAs (miRNAs), a class of small non-coding RNAs, have emerged as pivotal regulators in this context, modulating gene expression networks that govern inflammation, fibrosis and hepatocarcinogenesis. This review synthesizes current evidence on the role of miRNAs in liver cirrhosis, emphasizing specific miRNAs such as miR-21, miR-122, miR-125, miR-146 and miR-155. These miRNAs influence pathways involving TGF-β, NF-κB and PI3K/Akt signaling, contributing to either fibrogenic progression or its suppression. The unique expression profiles and stability of miRNAs in biological fluids position them as promising non-invasive biomarkers for cirrhosis diagnosis and monitoring. Moreover, therapeutic modulation of miRNA activity through mimics or inhibitors holds future potential, though delivery and safety challenges remain. Advancing our understanding of miRNA-mediated regulation in cirrhosis could transform current diagnostic and therapeutic strategies, enabling more precise and personalized liver disease management. Full article