Search Results (796)

Background: Trigeminal neuralgia (TN) is clinically defined, but patients presenting to tertiary practice with trigeminal-region pain are often diagnostically heterogeneous and may follow prolonged medication, dental, imaging, and procedural pathways before a stable phenotype is established. We aimed to characterize diagnostic phenotypes, secondary causes, and treatment-escalation patterns in a large retrospective tertiary-center trigeminal pain cohort derived from routine free-text clinical documentation. Methods: We conducted a retrospective single-center cohort study based on a clinical dataset containing 18,007 note fragments linked to 672 unique patient records between 12 October 2010 and 21 April 2026. A rule-based natural-language-processing-assisted chart review framework was used to identify patients with trigeminal pain and to extract documentation-derived demographic features, pain distribution, secondary causes, dental pathway variables, imaging signals, medication exposure, procedures, and outcome language. Patients were grouped into primary/classical TN, secondary TN/trigeminal pain, and dental-first or mimic pathways using predefined operational criteria. Results: A total of 455 patients met criteria for the analytic trigeminal pain cohort; 311 (68.4%) carried explicit TN terminology. Mean age was 58.7 years, median age 60 years, and 267 of 428 patients with recoverable sex data (62.4%) were women. Trigeminal branch involvement could be extracted in 351 patients (77.1%), with V2 involvement documented in 256 (56.3%), V3 involvement in 218 (47.9%), and V1 involvement in 138 (30.3%). The final NLP-derived phenotypic distribution comprised 201 primary/classical TN cases (44.2%), 146 secondary TN/trigeminal pain cases (32.1%), and 108 dental-first or mimic presentations (23.7%). MRI was documented in 384 patients (84.4%), neurovascular conflict or vascular loop in 253 (55.6%), multiple-sclerosis-related disease in 69 (15.2%), and tumor-related trigeminal involvement in 84 (18.5%). Prior dental evaluation was identified in 169 patients (37.1%), and prior dental procedures in 114 (25.1%). Carbamazepine exposure was documented in 367 patients (80.7%), pregabalin in 221 (48.6%), gabapentin in 150 (33.0%), oxcarbazepine in 116 (25.5%), and phenytoin in 73 (16.0%). At least one invasive or image-guided procedure was documented in 390 patients (85.7%), including nerve blocks/injections in 355 (78.0%), radiofrequency procedures in 126 (27.7%), balloon compression in 90 (19.8%), microvascular decompression in 113 (24.8%), and stereotactic radiosurgery in 55 (12.1%). Dental-first patients were significantly more likely to have undergone prior dental procedures (65.7% vs. 3.5% in primary/classical TN and 24.7% in secondary TN; p < 0.001), whereas secondary TN/trigeminal pain was associated with higher use of radiofrequency procedures (36.3%; p = 0.017), higher use of stereotactic radiosurgery (19.9%; p = 0.002), higher recurrence documentation (70.5%; p = 0.001), and a higher rate of complete pain relief documented at last follow-up (46.6%; p = 0.004). Conclusions: In tertiary practice, trigeminal pain is substantially broader than a formal TN label. Secondary disease and dental-first pathways account for a large fraction of referrals, and management is characterized by heavy medication burden, frequent escalation, and recurrent retreatment. A structured phenotyping approach may help convert routine clinical documentation into a clinically meaningful framework for diagnostic triage and treatment selection, although imaging and outcome variables require cautious interpretation when derived from retrospective free text. Full article

The crystal arthropathies gout and calcium pyrophosphate deposition (CPPD) disease represent a significant subset of rheumatic and musculoskeletal diseases, yet their overlap with common entities such as osteoarthritis (OA), rheumatoid arthritis (RA), and psoriatic arthritis (PsA) remains underrecognized. We conducted a structured narrative review of studies published through August 2025, exploring the epidemiology, clinical presentation, imaging characteristics, and treatment implications of these overlapping conditions. We particularly examine how crystal deposition may mimic or complicate the clinical course of OA, RA, and PsA, especially in older adults with multimorbidity. Recognizing these overlaps is critical to avoid misdiagnosis, inappropriate escalation of immunomodulatory therapy, and missed opportunities for targeted crystal-directed treatment. Full article

Background: Patients increasingly rely on freely available artificial intelligence tools, such as Chat-GPT, to obtain diagnostic and therapeutic information for different orthopedic conditions. While preliminary studies have evaluated its educational potential, evidence regarding its diagnostic accuracy and treatment recommendations in rotator cuff pathology remains limited. This study aimed to assess the ability of Chat-GPT 5.2 to correctly diagnose rotator cuff tears and propose treatment strategies, comparing its performance with that of expert shoulder surgeons. Materials and Methods: Five clinical cases representing common rotator cuff tear patterns were retrospectively selected in an exploratory pilot analysis. For each case, MRI images, radiologic reports, and clinical information were sequentially provided to Chat-GPT 5.2 using standardized prompts simulating a patient inquiry. Responses were compared with those of three experienced shoulder surgeons. Diagnostic accuracy, treatment recommendations, postoperative management suggestions, and complication descriptions were analyzed. Krippendorff’s alpha was used to assess interobserver agreement. Results: Chat-GPT 5.2 did not correctly diagnose any case using MRI images alone, whereas human examiners reached accurate diagnosis in most cases. Treatment recommendations provided by Chat-GPT were non-specific when based solely on imaging or radiologic reports, but became more defined after a detailed lesion description. Interobserver agreement between Chat-GPT and surgeons regarding treatment was inconsistent across cases. Postoperative rehabilitation advice and complication descriptions were accurate and comprehensive, demonstrating high consistency with published data. Conclusions: The results of this pilot analysis suggest that the use of Chat-GPT 5.2 by patients affected by rotator cuff tears could potentially lead to misdiagnosis and wrong treatment advice, while on the contrary it could be used by physicians to better illustrate postoperative protocols, complications and expected outcomes. Full article

Coxiella burnetii is an intracellular bacterium responsible for an anthropozoonosis that can be asymptomatic or manifest as acute or chronic Q fever. This extensive series of 588 patients represents one of the largest single-center studies on sporadic acute Q fever, highlighting the Canary Islands as a high-incidence region in Spain. Epidemiologically, the domestic cycle is the primary driver of infection, with caprine livestock serving as the main reservoir, showing a local prevalence of 60.4%. Transmission is predominantly airborne via aerosols; the environmental resilience of C. burnetii facilitates its transport into urban areas, where the majority of patients reside despite lacking direct animal contact. While fever, headache, and diaphoresis are hallmark symptoms, over 90% of patients exhibit transient urinalysis abnormalities, a finding that often leads to misdiagnosis and inappropriate antimicrobial use. Clinically, the non-specific (45.7%) and hepatic (44.1%) forms are most prevalent, whereas the pulmonary form (7.8%) is strongly associated with smoking and alcohol consumption. Although localized forms affecting the nervous system or skin (such as panniculitis) were observed, the overall prognosis remains excellent with no progression to chronic Q fever in this series. In summary, the extensive series described characterizes acute Q fever patients in the Autonomous Community of the Canary Islands, with features that are similar in some cases but also show notable differences compared to other national and international series. Furthermore, depending on the patients’ age, the time elapsed between the onset of clinical manifestations and hospital evaluation, and the clinical form, acute Q fever displays significant differences. Full article

Inclusive education is a cornerstone of the South African educational policy; however, effectively supporting learners with specific learning disorders remains a significant challenge, particularly within specialized school settings. This study explored the strategies and experiences of teacher-carers in promoting social support for learners with Developmental Coordination Disorder (DCD/Dyspraxia) in Johannesburg. Guided by an interpretivist paradigm, the researcher employed a qualitative study design, conducting semi-structured interviews with twelve teachers. Thematic analysis revealed that educators fostered inclusivity and social competence through individualized, learner-centred approaches, peer-mediated activities, and the creation of structured social learning opportunities. However, the findings also identified significant barriers, including a profound lack of teacher knowledge about Dyspraxia, insufficient training, and an absence of systemic support and awareness campaigns. These issues often led to misdiagnosis, feelings of teacher inadequacy, and ad hoc support strategies. The findings highlight that adequate support for learners with Dyspraxia depends not only on individual teacher dedication but also on structured professional development and institutional backing. The study recommends implementing continuous teacher training, adapting the curriculum, and launching nationwide awareness initiatives to better equip educators and foster inclusive learning environments. This study offers context-specific insights that can inform inclusive education practices in similar resource-constrained environments. Full article

Prenatal alcohol exposure (PAE) can cause fetal alcohol spectrum disorder (FASD). The FASD continuum encompasses facial dysmorphism, growth failure, and central nervous system (CNS) abnormalities/dysfunctions. Because some of these features may not be apparent in newborns, detecting PAE in the neonatal period is challenging, while early diagnosis may improve neurodevelopmental outcomes. Maternal self-reported alcohol consumption is limited by recall bias and denial, leading to misdiagnosis. Currently, there is a lack of universally implemented and standardized tools for identifying PAE/FASD in children across clinical settings. We aimed to review the existing literature on PAE assessment methods. Analysis of alcohol metabolites in neonatal meconium is the most widely studied and appears to be feasible for routine use, but it has some limitations. Recent advances in understanding the effects of alcohol on neurotransmitters, growth factors, and gene activity have contributed to the development of novel diagnostic strategies and have brought us closer to effective PAE detection. Some laboratory assays appear to be feasible for implementation in routine clinical practice, i.e., testing for pro- and anti-inflammatory cytokines, including interleukins (IL): IL-6, IL-1β, IL-10, and tumor necrosis factor-alpha (TNF-α) and Insulin-like Growth Factor 1(IGF1). These molecular approaches hold promise but require replication and validation before becoming the standard in clinical practice. Further research on biomarkers and other screening tools should continue to determine their feasibility and availability. Full article

Spinal infections in general, and infectious spondylodiscitis in particular, are increasingly diagnosed in the Western world, in recent decades. This rise in incidence is associated with an ageing population and with an increased availability of accurate diagnostic modalities. Even so, due to the non-specific nature of clinical manifestations, and of the implicated blood and serum markers, there is a risk of underdiagnosis or misdiagnosis of the disease in its initial stages. Ionizing radiation methods, such as plain radiography (X-ray) and computed tomography (CT), are also not reliable in the early stages of the diseases, and the golden standard of imagistic diagnosis, magnetic resonance imaging (MRI), is not always available or requested. Still, MRI remains the most reliable method in most cases where there is a need for differential diagnosis with other pathologies, namely Andersson lesions, destructive spondyloarthropathy, erosive osteochondritis, micro-crystalline spondylitis, Modic 1 lesion, Charcot spinal arthropathy, osteoporotic fractures, SAPHO syndrome with spinal involvement, and Schmorl’s nodes. Infectious spondylodiscitis is caused by bacteria, and, less frequently, by fungi. Rare cases of parasitic causes have also been reported in the literature. Infectious spondylodiscitis of bacterial causes may be pyogenic, more frequently caused by Staphylococcus spp. or Streptococcus spp., or granulomatous, usually caused by Mycobacterium tuberculosis complex (MTBC) or from classical brucellosis. In all these cases, therapy may be conservative, with antibiotics, or surgical, when the former fails or in patients with significant spinal instability or other neurological manifestations. There are various surgical approaches, each with its own drawbacks, and usually used according to the preference of the attending physician. Even in cases of surgical treatment, antibiotic administration is prolonged, and it is important for a proper scheme to be selected based on antimicrobial susceptibility testing. However, given that in many cases, the causative agent cannot be identified, empirical treatment must be initiated. Finally, newer approaches, including the incorporation of antimicrobial substances, may offer better solutions for improving treatment and rehabilitation outcomes. Full article

Background: Cardiac channelopathies are rare but potentially life-threatening disorders that may present with syncope or seizure-like episodes in children, often leading to misdiagnosis and delayed recognition. Other arrhythmia-associated cardiac conditions may also present with similar clinical manifestations and require careful cardiac evaluation. Objective: To evaluate the prevalence of cardiac channelopathies and inherited arrhythmogenic cardiac disorders in pediatric patients presenting with syncope and seizure-like events and to identify associated clinical and electrocardiographic features. Methods: This retrospective cross-sectional study included pediatric patients presenting with syncope, presyncope, seizures, or seizure-like episodes who underwent cardiac evaluation at Ankara Dr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research Hospital between January 2015 and April 2019. Cardiac evaluation was performed using a standard 12-lead electrocardiogram and was complemented by additional investigations, including 24 h Holter monitoring, exercise testing, pharmacological provocation, electrophysiological studies, and genetic analysis, when clinically indicated. Demographic, clinical, and diagnostic parameters were systematically evaluated. Results: A total of 363 patients were included in the final analysis. The mean age was 12.2 ± 4.7 years, and 58.7% were female. The most common diagnosis was vasovagal syncope (n = 160, 44.1%), followed by epilepsy (n = 53, 14.6%). Cardiac channelopathies, and arrhythmogenic right ventricular dysplasia (ARVD) were identified in 18 patients, corresponding to 4.9% of the pediatric cardiology-evaluated patients and 0.82% of the initial screened population. These diagnoses included long QT syndrome (n = 8), Brugada syndrome (n = 3), short QT syndrome (n = 3), catecholaminergic polymorphic ventricular tachycardia (n = 2), ARVD (n = 1), and malignant-type early repolarization (n = 1). Compared with other patients, those with cardiac channelopathies, malignant-type early repolarization, and ARVD more frequently had exercise-related triggers (p < 0.001), ventricular extrasystoles and ventricular tachycardia (p < 0.001), and abnormal exercise test findings (p < 0.001). Conclusions: Cardiac channelopathies are not uncommon in pediatric patients presenting with syncope and seizure-like events and should be considered in the differential diagnosis. Clinical triggers, family history, and electrocardiographic abnormalities may serve as important clues for early identification. A multidisciplinary approach, including detailed cardiac evaluation, is essential to prevent misdiagnosis and reduce the risk of sudden cardiac death. Full article

Psychiatric disorders, such as major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia (SZ), comprise a heterogenous group of severe mental illnesses (SMIs) characterized by disturbances in cognition, emotional regulation, or behavior. Cognitive impairment represents an accompanying feature of many SMIs, often interfering with or limiting essential daily life activities. SMIs arise from a complex interplay of genetic, epigenetic, developmental, and environmental factors that disrupt neural and cellular processes. SMIs often present with overlapping symptoms and sometimes co-occur, making misdiagnosis a common clinical challenge. To date, there is a lack of reliable and specific biological markers to aid in the differential diagnosis of cognitive impairment in SMIs and for distinguishing neurodegenerative dementias from SMIs with overlapping symptoms. In this context, blood-based biomarkers of the ATX(N) system associated with cognitive deficits in neurodegenerative diseases, such as neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), amyloid beta (Aβ), and tau proteins, may help to understand the biological basis of cognitive dysfunction in SMIs and support differential diagnosis. This narrative review summarizes the current evidence on the application of blood-based biomarkers of neurodegenerative dementias in SMIs and their association with the cognitive deficits observed in these conditions, as well as their relevance for differential diagnosis, disease monitoring, and the evaluation of treatment efficacy in psychiatric disorders. Full article

Immune checkpoint inhibitors (ICIs) have transformed oncologic care and are increasingly used as adjuvant therapy to reduce the risk of recurrence. However, this shift has introduced immune-related adverse events (irAEs) to patients who may otherwise be clinically disease-free after definitive therapy. Sarcoidosis-like reaction (SLR) is an uncommon but important irAE characterized by non-necrotizing granulomatous inflammation. In the adjuvant setting, SLR is uniquely consequential because it can closely mimic recurrent malignancy on surveillance imaging and thereby prompt unnecessary diagnostic procedures, treatment interruption, or escalation of care. This review summarizes the current evidence on ICI-associated SLR with an emphasis on adjuvant immunotherapy, where practical guidance remains limited. We integrate evidence from clinical trials, real-world cohorts, and published case series to summarize the reported incidence of SLR, proposed immunologic mechanisms, clinical and radiographic presentation, pathology, differential diagnosis, and management. Particular attention is given to the problem of distinguishing SLR from recurrence, when tissue confirmation should be prioritized, and how management should be individualized according to clinical severity and organ involvement. Common radiographic features include bilateral mediastinal and hilar lymphadenopathy and pulmonary nodules, but tissue confirmation remains the diagnostic gold standard when feasible. Many cases are low grade and may be managed conservatively. Greater recognition of ICI-associated SLR is critical to avoid misdiagnosis and unnecessary escalation of care while preserving the therapeutic benefit of adjuvant immunotherapy. Full article

Anti-melanoma differentiation-associated gene 5 (anti-MDA5) antibodies are critical biomarkers in myositis, associated with distinct clinical features and prognosis. This study aimed to evaluate the proportion of anti-MDA5 positivity and compare the diagnostic performance of local immunoblotting (IB) with gold-standard immunoprecipitation (IP). We performed a retrospective analysis of 3272 physician-requested anti-MDA5 IB determinations over a five-year period (2019–2023). A subsequent exploratory pilot study of ten Hungarian patients with myositis was conducted to compare IB results with radiolabeled protein IP. Confirmatory in-house enzyme-linked immunosorbent assay (ELISA) was used to distinguish between 140 kDa bands (anti-MDA5 vs. anti-NXP2). Indirect immunofluorescence (IIF) on HEp-2 cells was also evaluated. In the retrospective cohort, 3.7% (n = 121) of samples were non-negative. Among 64 borderline patients, only one (1.6%) had a definitive diagnosis of dermatomyositis (DM). Conversely, the proportion of confirmed myositis cases was notably higher among patients with strong positive IB results. In our exploratory cross-sectional pilot study, complete concordance between the two assays was observed for negative and strong positive results. Discrepancies were noted in borderline and weak positivity ranges, where anti-MDA5 was not detected by IP; instead, alternative autoantibodies were identified. The three IP-confirmed MDA5 positive samples were all validated by ELISA. The characteristic IIF cytoplasmic staining was identifiable in 2 out of 10 cases (20%). In our cohort, borderline IB cases were frequently potential false positives, highlighting the need for careful clinical evaluation. Borderline and weak results require clinical correlation or confirmatory testing to avoid misdiagnosis. Full article

Background: Developmental and benign movement disorders (DBMD) are a common but often under-recognized cause of referral in children with suspected seizures, frequently leading to misdiagnosis and unnecessary treatment. Methods: This retrospective cohort study included 453 children evaluated for suspected seizures between January 2019 and January 2024. Patients with epilepsy, cerebral palsy, metabolic disorders, significant developmental delay, psychiatric conditions, or structural brain abnormalities were excluded. DBMD was diagnosed in 113 patients based on clinical evaluation by experienced pediatric neurologists and established diagnostic criteria. Demographic characteristics, diagnostic distribution, age at presentation, and electroencephalography (EEG) findings were analyzed. Prevalence was calculated with 95% confidence intervals (CIs). Group comparisons were performed using chi-square tests and one-way ANOVA with Tukey post hoc analysis. Results: The prevalence of DBMD was 24.9% (95% CI: 21.2–29.1), corresponding to nearly one in four children referred with suspected seizures. Breath-holding spells were the most common diagnosis (6.6% of the total cohort; 26.5% of DBMD cases), followed by Sandifer syndrome and non-epileptic staring episodes. Age at presentation differed significantly between diagnostic groups (p = 0.001), with breath-holding spells occurring at younger ages and staring episodes at older ages. EEG findings were normal in 80.5% of patients, and no diagnosis-specific epileptiform patterns were identified. No patients were observed to develop epilepsy during the follow-up period. Conclusions: DBMD accounts for a substantial proportion of children referred for suspected seizures. Recognition of age-specific clinical patterns and predominantly normal EEG findings may improve diagnostic accuracy and help avoid unnecessary investigations and antiepileptic treatment. Full article

Anal cancer is a rare and under-researched malignancy, leading to limited understanding of patients’ experiences and potentially insufficiently tailored care. This study explored the health-related quality of life (HRQoL) and healthcare interactions of people with anal cancer. Patients with confirmed diagnosis took part in semi-structured interviews, supplemented by two European Organisation for Research and Treatment of Cancer (EORTC) HRQoL questionnaires. Data were analysed using Interpretative Phenomenological Analysis and organized into themes. Twenty-one patients (71% female; mean age of 62 years) from five countries were included. HRQoL challenges were identified across four phases: illness onset, diagnosis, treatment, and life beyond treatment. Key themes included misdiagnosis, not being taken seriously, and emotional and social disruptions. Additional themes involved stigma, embarrassment, strain on loved ones, and healthcare experiences. Defecation problems were especially burdensome, beginning at onset, intensifying during treatment, and persisting as a chronic issue affecting well-being. Patients described coping strategies and sometimes reframed their experiences positively, expressing gratitude for support received. Questionnaire findings aligned with patients’ reports of prominent physical symptoms. Anal cancer remains highly stigmatized, creating complex physical, emotional, and social challenges. Individualized care and extended psychosocial and practical support beyond treatment are essential to improve HRQoL and dignity in survivorship. Full article

Background: The term “pseudo-signet ring cell” in the gastrointestinal and biliary tract refers to benign cells with signet ring-like morphology that resemble the malignant counterpart seen in poorly differentiated adenocarcinomas; Clinical Significance: Given this close resemblance to malignant cells, they can pose a diagnostic challenge for pathologists. Awareness of this diagnostic pitfall is crucial to avoid misdiagnoses and overtreatment of patients; Case Presentation: Herein, we provide an overview of an array of clinical presentations of pseudo-signet ring cells, particularly focusing on the three most frequent clinical scenarios, and briefly discuss the possible etiologies for this phenomenon; Conclusions: Pseudo-signet ring cells are a rare but important diagnostic pitfall that require careful morphological evaluation, contextual awareness, and clinicopathologic correlation to avoid misdiagnosis. Full article

Background/Objectives: Mycoplasma pneumoniae (MP) is a frequent cause of community-acquired pneumonia, but it is increasingly recognized for extrapulmonary complications, specifically Mycoplasma pneumoniae-induced rash and mucositis (MIRM). This systematic review aims to comprehensively assess the frequency of clinical features, diagnostic criteria and outcomes of oral mucositis in patients with confirmed MP infection. Methods: A systematic review was conducted following PRISMA guidelines across PubMed, Web of Science and Scopus, covering the period 2015–2025. Inclusion criteria encompassed in vivo studies, case reports, and case series in English focusing on MP-associated mucositis. Methodological quality was assessed using JBI checklists for case-based evidence and the Newcastle–Ottawa Scale for cohort studies. Two clinical cases were reported. Results: Out of 242 identified records, 42 studies were included, involving 140 patients with a notable male predominance (62%). Oral involvement was reported in 92.9% of cases, often characterized by severe ulcerations, hemorrhagic crusting, and debilitating pain. Intensive Care Unit admission was required in 21.5% of cases due to severe systemic or mucosal disease, with 14.3% necessitating parenteral nutrition. Quality assessment indicated moderate-to-high methodological rigor across most included studies. Conclusions: MIRM represents a significant clinical entity where oral mucositis is a dominant feature, often preceding or overshadowing respiratory symptoms. Early recognition by oral health professionals is crucial to avoid misdiagnosis, ensure appropriate multidisciplinary care, and implement supportive or immunomodulatory therapies that reduce morbidity and hospitalization length. Full article