Search Results (88)

Intraosseous hemangiomas (IH) are rare intrabony lesions that represent less than 1% of intraosseous tumors. IH are mostly seen in the axial skeleton and skull. Most commonly, the frontal bone, zygomatic, sphenoid, maxilla, ethmoid, and lacrimal bone can manifest IH. Currently, IH is classified as a developmental condition of endothelial origin. According to WHO, the five histological types of IH are cavernous, capillary, epithelioid, histiocytoid, and sclerosing. IH of the zygoma is an extremely rare condition with female predominance. A systematic review recently estimated that there were 78 cases published in the literature until 2023. The lesion is usually asymptomatic and presents with a gradually deteriorating deformity of the malar area, and the patient might be able to recall a history of trauma. Numbness due to involvement of the infraorbital nerve might also be present; however, atypical skin and bone sensations might also occur. Other symptoms include painful swelling, bone asymmetry, skin irritation, sinus pressure, paresthesia, diplopia, enophthalmos, or atypical neuralgia. A bony lesion with a trabecular pattern in a radiating formation (sunburst pattern) or a multilocal lytic lesion pattern created by the multiple cavernous spaces (honeycomb pattern) is commonly observed during radiologic evaluation. We present a rare case of IH of the zygoma in a 65-year-old generally healthy woman. A cyst-like bone tumor was revealed from the CT scan, which made preoperative biopsy of the lesion problematic. A careful radiological diagnostic differentiation of the lesion should always be conducted in such cases to outline a safe surgical plan and possible alternatives if needed. The patient underwent total tumor resection in the operating room, and the defect was reconstructed with the use of a titanium mesh and a synthetic hydroxyapatite bone graft based on a 3D surgical guide printed model. Full article

Introduction: Synovitis and damage to natural stabilizers of many axial and peripheral joints make patients with rheumatoid arthritis particularly susceptible to sagittal balance disorders of the axial skeleton. This may determine the high individual variability of cervical spine deformities as well as differences in the rate of development of disease symptoms in these patients, such as radiculopathy and myelopathy. Methods: In the scientific literature, in addition to systemic factors, more and more attention is paid to work on biomechanical factors in the development of cervical spine instability. One of the methods for assessing the influence of biomechanical factors, which can also be used in everyday practice, is the analysis of radiological parameters of sagittal balance. Results: Among the selected sagittal balance parameters studied, a statistical relationship between C4 and C5 distance and the OI parameter has been found, indicating a relationship to a parameter that remains constant throughout an individual’s life in the group of patients with disease duration over 20 years. Conclusions: The development of instability and deformity in the subaxial segment of the cervical spine in patients with rheumatoid arthritis may be the result of insufficiently understood components of biomechanical factors; hence, further research in this field is necessary. Full article

Background/objectives: Despite advancements in early diagnosis and clinical practices guided by standardized care protocols, Merkel cell carcinoma (MCC) is marked by an unfavorable prognosis with a 5-year relative survival rate of 65%, based primarily on data collected prior to the introduction of immunotherapy. Regional nodal metastases affect 40–50% of MCC patients, while approximately 33% experience distant dissemination. Among these, bone and bone marrow metastases are particularly notable, although the characteristics and clinical implications of this metastatic disease in MCC remain poorly understood. Methods: A comprehensive review was conducted using the Medline database (via PubMed) up to January 2025. The search strategy included the string “(Merkel cell carcinoma AND (bone OR marrow))”. Results: A total of 1133 (69.3% male and 30.7% female) patients diagnosed with advanced MCC were collected. The median (IQR) age at diagnosis was 67.5 (12.65) years old. Overall, 201 (20.8%) cases of bone and/or bone marrow metastases were identified and linked to a primary known MCC in 75.7% of cases. Bone metastases (BMs) appear as the third most common metastatic site, following the liver (second) and lymph nodes (first). They show mixed biological and radiological behavior, with a marked preference for the axial skeleton over the appendicular one. Addressing the characteristics of metastatic bone disease, neurological symptoms were the most documented, whereas bone marrow involvement and leukemic spread seemed to be primarily related to immunosuppression. Multimodal treatment strategies, including platinum-based chemotherapy and radiotherapy, were the primary approaches adopted, reflecting therapeutic practices from the pre-immunotherapy era. Conclusions: The pattern of metastatic spread in MCC differs among studies, with the bones resulting as the third most common site of distant spread. Excluding head and neck MCC, which seems to be more regularly associated with liver metastases, the relationship between the primary tumor site and the development of bone or bone marrow metastases appears inconsistent. Overall, BMs mostly correlated with advanced MCC stages and poorer survival outcomes, with a median overall survival (OS) of 8 months (range 12.75–4). The integration of international guidelines, evolving evidence from clinical trials, and the expanding role of immune checkpoint inhibitors (ICIs) will contribute to improving systemic disease control and enhance patient care. Full article

Parkinson’s disease (PD) is one of the most well-known neurodegenerative diseases. Axial symptoms of PD include tremors in the arms and legs, stiffness of the muscles in the limbs and trunk, slow movement, impaired coordination, and balance disorders. Progressive disability increases the risk of falls and leads to immobilization of the patient. Comprehensive rehabilitation plays a very important role in the treatment process and serves mainly to improve motor functions and balance. In recent years, traditional methods of rehabilitation have been enriched by sometimes unconventional modern methods, which are attractive to patients. Unfortunately, current scientific evidence for the effectiveness of these methods is insufficient. Unconventional methods being used increasingly often in the rehabilitation of patients with PD include mind–body interventions. One of these interventions is Pilates exercise, which works on a physical and mental level. In this narrative review, we present the state of the art on the effects of Pilates exercise on balance and motor functions in PD. Previous studies, the results of which are available in scientific reports, have not provided convincing evidence for the effectiveness of these methods. Between 2019 and 2024, four systematic reviews and meta-analyses on the use of Pilates in the rehabilitation of patients with PD were published. Most of the reports show many shortcomings: too small groups of patients; frequent methodological errors, such as a lack of randomization and insufficient inclusion and exclusion criteria; imprecise descriptions of the interventions; different intensities and frequencies of exercises; too different outcome measures; and poorly chosen methods of statistical evaluation. Therefore, many authors emphasize the need for further, better-planned research. Full article

Background/Objectives: The prevalence of inflammatory bowel disease (IBD) in spondyloarthritis (SpA) patients is unknown. Our objective was to assess the prevalence of undiagnosed IBD in SpA patients, including those with axial spondylarthritis (axSpA) or psoriatic arthritis (PsA). Additionally, we examined fecal calprotectin (FC) levels in relation to the accuracy of IBD diagnosis. Methods: EISER was a cross-sectional, multicenter, observational, rheumatologist–gastroenterologist collaborative study. Patients with SpA naïve to biologics were recruited. Demographic and clinical characteristics, disease activity, and treatment information were collected. Patients with FC ≥ 80 µg/g or IBD-related symptoms underwent a colonoscopy or video capsule endoscopy. Receiver operating characteristic analysis assessed the predictive value of FC for IBD diagnosis. Results: Of the 570 patients recruited, 494 were evaluable for the main outcome, 248 (50.2%) had axSpA, and 246 (49.8%) had PsA. Overall, 28/494 patients were diagnosed with IBD (5.7%, 95%CI 3.6–7.7). Sorted by clinical entity, 22 (8.9%, 95%CI 5.3–12.4) axSpA and 6 (2.4%, 95%CI 0.5–4.4) PsA patients had a diagnosis of IBD: 24 (86%, 95%CI 79.4–92.6) had ileal/ileocolonic Crohn’s disease (CD), 3 (11%, 95%CI 5.1–16.9) unclassified IBD, and 1 (3.5%, 95%CI 0.0–6.9) ulcerative colitis. The ROC curve for FC and IBD diagnosis (AUC: 0.870, p < 0.001, 95%CI 83.7–89.8) showed that an FC ≥ 147 µg/g had a positive predictive value of 17.4% (95%CI 14.5–20.8) Conclusions: In SpA, the prevalence of undiagnosed IBD was 5.7%, higher in axSpA (8.9%) than in PsA (2.4%) patients, with CD being the most common. SpA patients with FC levels < 147 µg/g had a very low probability of IBD. Full article

Background: Juvenile spondyloarthritis (JSpA) is a heterogeneous group of diseases. An international consensus group developed the axial juvenile SpA (AxJSpA) classification criteria for this purpose, defining a homogeneous group of patients diagnosed with jSpA and experiencing axial symptoms before the age of 18 years. Aim: To validate this new set of criteria in our pediatric SpA patients. Methods: This study was held in the Hacettepe University Department of Pediatric Rheumatology. Juvenile SpA patients suspected of axial disease diagnosed and followed at the same center between 2005 and 2024 were included. Patients who had other etiologies for axial symptoms, including chronic nonbacterial osteomyelitis, mechanical back pain–overuse injuries, amplified pain/growing pains, and SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) served as the control group. Results: In total, 123 JSpA patients and 74 controls were included in this study. The sensitivity/specificity of the new criteria were 61%/77% with an area under curve value of 0.75 (95% CI: 0.68–0.83) in our cohort. Among different criteria sets, European Spondyloarthropathy Study Group (ESSG) criteria were the most sensitive (sensitivity/specificity 91%/68%), and ASAS peripheral criteria (Assessment of SpondyloArthritis International Society) were the most specific (sensitivity/specificity 67%/84%) in our cohort when compared to ASAS axial criteria (sensitivity/specificity 74%/65%), ILAR (International League of Associations for Rheumatology) (sensitivity/specificity 85%/81%), and ILAR + SI (sacroiliitis) (sensitivity/specificity 67%/74%) criteria. Conclusions: The area under the curve of the new AxJSpA criteria was similar to that of the original report; however, both sensitivity and specificity were lower in our cohort, possibly due to factors like earlier disease presentation and a lower prevalence of chronic structural changes on MRI. Full article

In addition to axial motor complications such as abnormal posture, instability, falls, and gait variability, neurodegenerative diseases like Parkinsonian syndromes include executive dysfunction, Parkinson’s disease dementia, and neuropsychiatric symptoms. These motor disorders significantly affect mobility, quality of life, and well-being. Recently, physical activity of various intensities monitored both remotely and face-to-face via digital health technologies, mobile platforms, or sensory cues has gained relevance in managing idiopathic and atypical Parkinson’s disease (PD and APD). Remote monitoring solutions, including home-based digital health assessments using semi-structured activities, offer unique advantages. Real-world gait parameters like walking speed can now be continuously assessed with body-worn sensors. Developing effective strategies to slow pathological aging and mitigate neurodegenerative progression is essential. This study presents outcomes of using digital health technologies (DHTs) for remote assessment of motor function, physical activity, and daily living tasks, aiming to reduce disease progression in PD and APD. In addition to wearable inertial sensors, clinical rating scales and digital biomarkers enhance the ability to characterize and monitor motor symptoms. By reviewing recent literature, we identified emerging trends in quantifying and intervening in neurodegeneration using tools that evaluate both remote and face-to-face physical activity. Our findings confirm that DHTs offer accurate detection of motor fluctuations and support clinical evaluations. In conclusion, DHTs represent a scalable, effective strategy for improving the clinical management of PD and APD. Their integration into healthcare systems may enhance patient outcomes, support early intervention, and help delay the progression of both motor and cognitive symptoms in aging individuals. Full article

Background: Glioblastoma (GBM) is the most common primary brain tumor in adults, with a poor prognosis and survival. Although typically presenting with focal neurological deficits, seizures, or cognitive decline, GBM can occasionally mimic autoimmune encephalitis (AE), leading to significant diagnostic delay. The overlap in clinical, radiological, and serological findings between GBM and AE underscores the need for thorough evaluation. Methods: We retrospectively reviewed cases of patients diagnosed between 2016 and 2023 with pathology-confirmed GBM, critically rethinking those cases initially diagnosed with AE at symptom onset. The diagnostic workup included magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, autoantibody testing, and whole-body nuclear scanning to exclude extracranial malignancies. Results: We found five female patients diagnosed with GBM who initially presented with signs and symptoms suggestive for AE. Initial MRI showed non-specific brain tissue alterations, without definitive tumor features. CSF analysis was largely unremarkable, though some cases exhibited positive autoantibodies. Despite therapy, clinical deterioration and follow-up MRI revealed infiltrative intra-axial lesions with contrast enhancement, leading to pathology-confirmed GBM diagnoses. All patients had poor prognoses, with a mean survival of 10 ± 4 months. Conclusions: GBM can mimic AE, delaying appropriate treatment. In patients with atypical MRI findings and suboptimal response to therapy, early follow-up imaging and biopsy should be considered to exclude malignancy. A multidisciplinary approach is critical for timely diagnosis and improved management. Full article

Purpose: Acute submacular hemorrhage (SMH) is a vision-threatening complication common in patients affected by age-related macular degeneration (AMD). This study evaluates safety, long-term clinical outcomes and associated treatment factors following intravitreal triple injection of recombinant tissue plasminogen activator (rtPA), SF₆ gas, and Bevacizumab due to acute SMH secondary to AMD. Methods: A retrospective analysis on patients who received treatment between January 2014 and December 2020 (n = 37) was conducted. Visual acuity (VA), central retinal thickness (CRT), central retinal volume (CRV), and axial pigment epithelial detachment height were analyzed at baseline (B), 4 weeks after triple injection (FU1), after the following anti-VEGF injection series (FU2), after 1 year (FU3), after 2 years (FU4), and at the final follow-up examination after 4.4 ± 1.6 years (FU5). Further, treatment courses and clinical outcomes were compared to a patient cohort treated for exudative AMD without prior SMH. Furthermore, an explorative data analysis on final VA was conducted, and adverse events following triple therapy were investigated. Results: Triple injection was performed on average 5.6 ± 5.7 days after onset of symptoms. Patients received 16 ± 3 additional intravitreal anti-VEGF injections due to persistent macular edema over the subsequent 2 years. Significant improvements were observed at FU1 in VA (p < 0.001), CRT (p = 0.005), and CRV (p = 0.007), as well as at FU2 in axial PED height (p < 0.001), with all improvements being stable until final follow-up examination. In the group comparison, patients with SMH demonstrated significantly worse functional and anatomical outcomes at 24 months except for the 24-month CRT, and patients on average received more intravitreal injections. Five of 37 patients (13.5%) experienced a retinal pigment epithelial tear following triple injection. Final VA correlated positively and significantly with FU1 VA, while no correlation was observed with baseline VA, the size or height of SMH, or the number of additional anti-VEGF injections. Conclusions: Triple injection constitutes a simple and effective therapy with long-term functional and anatomical improvements following treatment due to SMH, although patients have an increased risk for RPE tears. The 4-week postoperative VA following triple injection was predictive for long-term visual function. Full article

Background: Carpal tunnel syndrome (CTS) is a common neuropathy caused by compression of the median nerve (MN) within the carpal tunnel, which causes pain, paresthesia, or altered sensation. While a small carpal tunnel area is considered a risk factor for CTS, varying carpal tunnel dimensions in CTS patients have been obtained via axial computed tomography and magnetic resonance imaging (MRI). Methods: In this retrospective study, MR images from 49 CTS patients and 38 healthy controls were analyzed to investigate differences in the carpal tunnel area and carpal boundaries between the groups and to explore the relationships of these parameters with CTS severity. Results: Our findings revealed that compared with the controls, CTS patients presented significantly larger cross-sectional areas (CSAs) of the MN and carpal tunnel and increased MN flattening ratios. The CSAs of the MN showed moderate positive correlations with severity (r = 0.395, p < 0.001), symptom score (r = 0.354, p < 0.001), and disability score (r = 0.300, p < 0.001), while the carpal tunnel area showed weaker but significant correlations with severity (r = 0.268, p = 0.002), symptom score (r = 0.173, p = 0.026), and disability score (r = 0.183, p = 0.018). The ratios of the MN CSA to those of the carpal tunnel, the interior carpal boundary (ICB), the exterior carpal boundary (ECB), and the wrist were disproportionately greater in the CTS patients. Among them, both the MN-to-ICB and MN-to-ECB ratios had fair to good diagnostic values (area under the curve = 0.725 and 0.794, respectively). Conclusions: These results highlight the utility of MRI-derived CSA measurements and ratios in identifying pathophysiological changes in CTS patients, particularly crowding of the MN inside the carpal tunnel. Further studies are recommended to refine MRI-based diagnostic protocols for CTS. Full article

Background and Objectives: Spondylarthritis is a complex group of inflammatory diseases closely associated with the HLA-B27 antigen. However, the role of non-HLA-B27 alleles in the disease’s pathogenesis has gained significant scholarly attention in recent years. Case presentation: This case study presents a 49-year-old male with a history of progressive inflammatory back pain, characterized by morning stiffness and restricted spinal mobility developed over several years. Initially presenting with non-specific symptoms, the patient eventually experienced persistent axial pain and deteriorating functional limitations, which required further evaluation. Radiographic imaging supported the diagnosis of ankylosing spondylitis (AS) by identifying bilateral sacroiliitis. HLA genotyping revealed a negative result for HLA-B27 but positive results for HLA-B13 and HLA-B37. This finding serves as a foundation for exploring alternative genetic factors contributing to spondylarthritis (SpA). HLA-B13 and HLA-B37 exhibit structural and functional similarities to HLA-B27, particularly in their peptide-binding grooves. This resemblance may lead to overlapping peptide repertoires and increased T cell cross-reactivity. Moreover, these alleles belong to overlapping cross-reactive groups (CREGs) and share the Bw4 epitope. This suggests that they may contribute to disease pathogenesis via similar mechanisms, such as molecular mimicry and the dysregulation of natural killer (NK) cell interactions, as observed in HLA-B27. Conclusions: This case emphasizes the necessity of expanding diagnostic criteria to incorporate non-HLA-B27 markers, particularly for patients who are HLA-B27-negative. Enhancing our understanding of the roles of alternative genetic markers can improve diagnostic accuracy, enable personalized treatment approaches, and enhance outcomes for the diverse SpA patient population. Full article

Background: Although various theories have been developed to explain ipsilateral hemiparesis, the causes behind this clinical phenomenon are still poorly understood. The main pathophysiological hypotheses include the anatomical variations in decussation of the corticospinal tract, the theory of diaschisis, the Kernohan-Woltman notch phenomenon, and Ectors’ syndrome. The current article aims to report the case of a 43-year-old woman diagnosed with ipsilateral hemiparesis following a right pterional meningioma, later treated by surgery. The different theories behind this paradoxical clinical phenomenon are discussed to elucidate the most likely mechanism behind it. Methods: A 43-year-old right-handed woman with a history of splenomegaly and iron deficiency anemia was admitted to our hospital for refractory headache, right-sided hemiparesis, and generalized tonic-clonic seizures. Clinical examination revealed a right upper motor neuron syndrome, with a grade 4 MRCS muscle strength for the upper and lower limbs. The contrast-enhanced brain MRI revealed an extra-axial right pterional mass lesion with a broad dural base, well-defined margins, and intense post-contrast enhancement, suggestive of meningioma. The patient was surgically treated for the brain lesion. Results: After a Simpson grade I resection with complete removal of the tumor and affected dura, the patient had a favorable local and neurological evolution, and after three weeks, total remission of the symptoms was achieved. Conclusions: To assess the mechanism behind ipsilateral hemiparesis, thorough clinical examination and further research in neuroimaging assessment and functional studies are essential. Full article

We present an ¹⁸F-fluorodeoxyglucose ([¹⁸F]FDG) positron emission tomography/computed tomography (PET/CT) scan of a 27 y/o patient with long-standing significant B symptoms, diffuse bone pain, increased inflammation parameters, and polydipsia revealing multiple FDG-avid osteolytic lesions of the axial skeleton including a vertebra plana of T7 and paraosseous soft tissue lesions. A CT-guided biopsy confirmed the diagnosis of Langerhans cell histiocytosis (LCH). This case highlights the importance of considering LCH in young patients with vertebral collapse and underscores the role of PET/CT imaging in establishing an accurate diagnosis. Full article

Background/Objectives: Atlantoaxial instability (AAI) affects approximately 20% of individuals with Trisomy 21. Radiological screening has been debated for decades due to its unclear clinical utility and lack of standardized diagnostic criteria. This systematic review evaluates the indications, efficacy, and clinical implications of radiological screening for AAI in children with Trisomy 21. Methods: Following the PRISMA guidelines, we conducted a systematic search in PubMed, Embase, and Google Scholar for studies published between 1990 and May 2024. Studies were included if they assessed AAI screening in pediatric Trisomy 21 populations, defined AAI radiologically, and reported at least two cases. We extracted the demographic data, study design, radiological criteria, screening recommendations, and biases from these studies. Results: Of the 537 identified studies, 8 met the inclusion criteria, encompassing 2536 children (mean age: 7 years). Five studies supported routine screening, while three opposed it. Studies varied significantly in their AAI definitions, using atlanto-dental interval (ADI) thresholds of 4 mm to 6 mm, the space available for cord (SAC), and the basion-axial interval (BAI). No study demonstrated a definitive correlation between radiological findings and neurological symptoms. Conclusions: Routine radiological screening for AAI in asymptomatic children with Trisomy 21 is not supported by consistent evidence. A selective screening approach, focusing on symptomatic patients or those engaging in high-risk activities, may be more appropriate. The standardization of radiological criteria and prospective studies are needed to refine screening recommendations. Full article

Background: Rhegmatogenous retinal detachment (RRD) is an ophthalmological emergency that can lead to vision loss if left untreated. Pars plana vitrectomy (PPV) is the preferred procedure for most complex RRD cases with a high success rate. However, certain parameters related to the patient, disease history, or ocular presentation may influence surgical outcomes. Methods: A systematic review of studies from 2010 to 2023 was conducted using PubMed/Medline (National Library of Medicine, Bethesda, MD, USA) and Scopus (Elsevier, Netherlands). The main objective of this review is to present the most significant data published in the scientific literature over the last 10 years, focusing on the latest implications of prognostic factors affecting the success of PPV in RRD. The search included terms such as “prognostic factors”, “visual outcome”, “functional outcome”, and “rhegmatogenous retinal detachment”. The database search returned 3489 studies. The included studies had to involve participants with RRD treated mainly by PPV, a minimum of 10 participants, and at least a 6-month follow-up period. Studies were excluded if they involved patients with previous PPV treatment or trauma. After reviewing their abstracts, titles, and applying the exclusion criteria, 19 articles were selected. Because it is an ample and interesting topic, many authors explored the connection between prognostic factors involved in the management of RRD and the final visual and functional outcomes. Methodological quality was assessed using PRISMA guidelines. Results: various factors have been studied, ranging from classic ophthalmological parameters, such as refractive error, axial length, lens status, visual acuity, duration of symptoms, description of the RRD, and retinal tears, to more complex findings on optical coherence tomography. Conclusions: The factors that significantly influenced postoperative prognosis in RRD included preoperative best-corrected visual acuity (BCVA), duration of symptoms, macular status (on/off), extent of retinal detachment, presence of macular hole, and proliferative vitreoretinopathy (PVR). Disruption of the ellipsoid zone (EZ), presence of epiretinal membrane (ERM), and lack of external limiting membrane (ELM) integrity were associated with poorer outcomes following RRD surgery. Full article