Search Results (7,716)

Primary hyperoxalurias (PHs) are rare autosomal recessive disorders characterized by overproduction of oxalate, a metabolic end product that readily forms calcium oxalate crystals. Excess hepatic oxalate leads to recurrent kidney stones, nephrocalcinosis, and progressive renal injury, often culminating in end-stage kidney disease (ESKD). Once renal clearance declines, systemic oxalate accumulation can cause multisystem deposition. PH encompasses three types—PH1, PH2, and PH3—caused by deficiencies in the hepatic enzymes AGT, GRHPR, and HOGA1, respectively, resulting in accumulation of glyoxylate and subsequent oxalate overproduction. Clinical presentation varies from infantile oxalosis to adult-onset recurrent nephrolithiasis, with PH1 generally being the most severe. Diagnosis relies on urinary oxalate measurements, plasma oxalate in advanced chronic kidney disease, urinary metabolite profiling, imaging, and genetic testing. Management includes hyperhydration, citrate supplementation, pyridoxine for responsive PH1 patients, dialysis and transplantation when required, while RNA interference therapies targeting glycolate oxidase or LDHA have demonstrated substantial biochemical efficacy in PH1 and represent promising emerging therapeutic options, although long-term clinical outcome data remain limited and broader applicability to other PH types is still under investigation. Future strategies focus on modulating intestinal oxalate absorption, gut microbiome therapies, oxalate-degrading enzymes, and novel gene-editing approaches. Early diagnosis and individualized management are critical to prevent kidney injury and systemic oxalosis. In this review, we summarize the genetic, biochemical, and clinical features of PH and discuss current and emerging therapeutic strategies. Full article

Background and Clinical Significance: Chronic non-bacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder that primarily affects children and adolescents, with females more frequently impacted. The condition remains poorly understood, though cytokine dysregulation and inflammasome activation are believed to contribute to its pathogenesis. Clinically, CNO is often difficult to distinguish from infectious osteomyelitis, as presenting symptoms such as bone pain, swelling, and functional limitation are nonspecific, while cultures are frequently negative. As a diagnosis of exclusion, delays in recognition can lead to prolonged or unnecessary antibiotic exposure and uncertainty in management. Case Presentation: A 14-year-old male with a history of left second toe osteomyelitis initially diagnosed in 2021. Despite negative cultures and limited histopathologic findings, he received multiple antibiotic courses with little improvement, and the digit remained chronically swollen. Three years later, a repeat evaluation revealed osseous resorption of the middle and distal phalanges, and a biopsy confirmed acute and mild chronic fibrosing osteomyelitis, consistent with CNO. Given the risk of progression and possible amputation, surgical reconstruction was pursued. The patient underwent autologous calcaneal bone grafting with digital fusion using a K-wire. At three months and one year postoperatively, radiographs demonstrated solid fusion of the digit with maintained activity and resolution of pain. Conclusions: This case emphasizes the diagnostic complexity of CNO and the importance of considering it in children with culture-negative or recurrent osteomyelitis. It further illustrates how timely surgical intervention can preserve function and quality of life while avoiding unnecessary amputation. Full article

Cardiovascular disease is a major cause of death worldwide and a global socio-economic problem. To date, there are numerous studies focused on finding new biomarkers of cardiovascular diseases. High-technological methods such as mass spectrometry (MS), high-performance liquid chromatography (HPLC), and nuclear magnetic resonance (NMR) spectroscopy enable us to record thousands of metabolites of organs and tissues. Studying organisms at a molecular level contributes to an in-depth understanding of preclinical conditions of various diseases. Metabolomics reflects the dynamics of metabolism distribution, including environmental influences, allowing us to create a metabolic profile of the patient. The aim of this review was to analyze current data on metabolomic and proteomic biomarkers in the diagnosis of cardiovascular diseases. The search databases were used to select studies on the potential clinical and diagnostic application of proteomic and metabolomic markers in cardiology. The selected sources were subjected to qualitative and thematic analysis. All biomarkers were grouped according to the pathophysiological process (inflammation, blood coagulation and lipid metabolism disorders, myocardial necrosis, etc.). The association of changes in metabolomic and proteomic profiles with the activation of pathogenic processes in the cardiovascular system was demonstrated. The use of these multivariate markers, individually or in combination, will increase the accuracy of early diagnosis and the effectiveness of treatment. This article also highlights the limitations of the method and possible ways to solve them. Full article

Plesiomonas shigelloides, an aquatic Gram-negative bacillus often associated with self-limiting gastroenteritis, has been reported worldwide. However, to date, no reviews have specifically investigated P. shigelloides bacteremia, which is rare and potentially fatal. This scoping review aimed to examine the existing literature to identify the epidemiology, clinical characteristics, antimicrobial susceptibility, and outcomes of P. shigelloides bacteremia. A PRISMA-ScR-guided search of PubMed, Scopus, Web of Science, and Embase identified 22 published cases, all reported as single-patient case reports. Cases were globally distributed, with the majority reported from the Americas and Europe. The median patient age was 46 years. The case fatality rate was 27.3% (n = 6/22). Most patients had identifiable host risk factors, particularly hematological disorders, neonatal status, or immunocompromised status, and environmental exposure such as raw seafood consumption or contact with freshwater. Clinical presentations were heterogeneous, commonly including fever and sepsis or septic shock. Microbiologically, P. shigelloides demonstrated consistent intrinsic resistance to ampicillin while retaining susceptibility to multiple antimicrobial classes. Poor outcomes were more closely associated with host factors and delayed presentation than with antimicrobial resistance. Early diagnosis, targeted therapy, and antimicrobial stewardship are essential for optimizing outcomes in this rare but severe infection. Full article

Artificial Intelligence (AI) is a computer science that focuses on developing systems and machines capable of performing tasks that typically require human cognitive abilities. It has widespread applications in medical diagnostics. Its use has led to rapid advancements in diagnostic methodology, enabling the analysis of large datasets. The major applications of AI in medical diagnostics include personalized treatment based on patient genetics, preventive measures, and medical image analysis. AI is employed to analyse genomic data and biomarkers, aiding in the precise tailoring of therapies to individual patient needs. It could also be employed in modern dentistry in the near future, helping to achieve higher efficiency and accuracy in diagnosis and treatment planning. AI may be utilized in screening for oral mucosa lesions and to discriminate between oral potentially malignant disorders and cancers from benign lesions. The potential advantages of AI include high speed and accuracy in the diagnostic process, as well as relatively low costs. The aim of this review was to present the potential applications of AI methods in the diagnosis of selected mucocutaneous diseases. A literature review focuses on oral lichen planus, recurrent aphthous stomatitis, and oral and laryngeal leukoplakia. Full article

Background: Major Depressive Disorder (MDD) is a pervasive psychiatric condition. Electroencephalography (EEG) is employed to detect MDD-specific neural patterns because it is non-invasive and temporally precise. However, manual interpretation of EEG signals is labor-intensive and subjective. This problem was addressed by proposing machine learning (ML) and deep learning (DL) methods. Although DL methods are promising for MDD detection, they face limitations, including high model complexity, overfitting due to subject-specific noise, excessive channel requirements, and limited interpretability. Methods: To address these challenges, we propose MS-MDDNet, a new lightweight CNN model specifically designed for EEG-based MDD detection, along with an ensemble-like method built on it. The architecture of MS-MDDNet incorporates spatial, temporal, and depth-wise separable convolutions, along with average pooling, to enhance discriminative feature extraction while maintaining computational efficiency with a small number of learnable parameters. Results: The method was evaluated using 10-fold Cross-Subjects Cross-Validation (CS-CV), which mitigates the risks of overfitting associated with subject-specific noise, thereby contributing to generalization robustness. Across three public datasets, the proposed method achieved performance comparable to state-of-the-art approaches while maintaining lower computational complexity. It achieved a 9% improvement on the MODMA dataset, with an accuracy of 99.33%, whereas on MUMTAZ and PRED + CT it achieved accuracies of 98.59% and 96.61%, respectively. Conclusions: The predictions of the proposed method are interpretable, with interpretability achieved through correlation analysis between gamma energy and learned features. This makes it a valuable tool for assisting clinicians and individuals in diagnosing MDD with confidence, thereby enhancing transparency in decision-making and promoting clinical credibility. Full article

Background/Objectives: Von Hippel–Lindau (VHL) disease is a rare autosomal dominant hereditary disorder. Central nervous system hemangioblastomas are one of the most common tumor types associated with VHL disease. Although these tumors are histologically benign, delayed diagnosis and treatment may result in severe neurological dysfunction, permanent disability, and even death. However, little is known about the experiences of patients with VHL disease. The aim of this study was to gain a better understanding of the illness experiences and psychological responses of patients with VHL disease accompanied by central nervous system hemangioblastomas. Methods: A qualitative study based on a semi-structured guide was conducted. Twelve participants were recruited. Data were collected through face-to-face interviews and analyzed using the constant comparative method. Results: Four themes and their subthemes were identified: 1. powerlessness—unpredictable disease progression and uncontrollable continuity; 2. negative emotional experiences—guilt and self-blame, depression, and low self-esteem; 3. compromise—acceptance of fate, positive outlook, and sense of hope; and 4. persistent worry—worries about family members, anxiety regarding finances and employment, and uncertainty regarding the future. Conclusions: This study identified four major themes in the illness experiences of patients with VHL disease accompanied by central nervous system hemangioblastomas, which provided deep insights into the care needs of individuals with VHL disease. Healthcare providers should develop effective measures to enhance patients’ ability to maintain a good quality of life and confront the future with resilience. Full article

Selective mutism (SM) is an anxiety disorder that prevents speech in certain situations. Increasingly, it is reported that a proportion of those with SM may also be autistic and that physical freezing may be an important feature of SM. Information on speech and freezing behavior in children with a diagnosis of autism only (n = 20), SM only (n = 61), both autism and SM (n = 19), or neither diagnosis (n = 131) was collected via a self-selected cross-sectional online parent survey with an embedded child survey completed by a small subsection of the children (total n = 27: autism only n = 1, SM only n = 13, both autism and SM n = 3, neither diagnosis n = 10). Throat and body freezing were reported by children with SM, whether they were also autistic or not. The most common reasons given by the children that increased their difficulty in speaking were pressure to talk, worries about how they would be perceived, and fear of making mistakes. The Selective Mutism Questionnaire (SMQ) gave the lowest median score for children with both autism and SM, with median scores increasing in the order SM only, autism only, and neither diagnosis. Children who reported more freezing tended to have lower SMQ scores. Full article

Background: Visual dysfunction resulting from damage to the optic nerve and retinal neurons represents a significant concern in the postoperative management of childhood-onset craniopharyngioma (CP) survivors. The study aims to evaluate the influence of clinical parameters assessed in patients before and after neurosurgery of CP on peripapillary retinal nerve fiber layer (RNFL) thickness results, using optical coherence tomography (OCT) as early markers of compressive neuropathy. Methods: This study retrospectively examined 73 eyes from 38 individuals diagnosed with CP and 64 eyes from 32 healthy controls matched for age and sex. All patients in the study group underwent a complete endocrine examination before and after surgery. Moreover, all participants in both groups underwent a thorough ophthalmological examination and OCT imaging. The average RNFL thickness was analyzed, along with the RNFL in the superior and inferior sectors and in eight peripapillary sectors around the optic nerve. Clinical variables were analyzed to assess how they relate to alterations in RNFL thickness within specific sectors. Results: After surgery, the peripapillary RNFL thickness was much lower in the CP group than in the healthy control group. Preoperative factors significantly affecting RNFL reduction are as follows: age below 5 years at the time of diagnosis, birth in the country, optic disc oedema, delayed puberty, arginine vasopressin deficiency (AVD), growth hormone deficiency (GHD), hyperprolactinemia, and the degree of preoperative hypothalamic involvement. Moreover, syndrome of inappropriate secretion of antidiuretic hormone (SIADH), as well as the end of AVD, memory disorder and hyperfagia after surgery, correlated with damage to RNFL. Conclusions: CP causes significant thinning of the RNFL, which demonstrates the tumor’s impact on the visual pathway. Monitoring optic nerve damage and assessing outcomes after surgery can be performed effectively using OCT. Additionally, the relationship between RNFL thickness in specific areas and clinical indicators can provide vital information for diagnosing and monitoring. This highlights their usefulness in forecasting visual results. As a result, ongoing RNFL assessments should be part of the long-term management of CP patients to improve visual outlook and identify ongoing or remaining damage. Full article

The sensory system plays a critical role in development, as it enables the processing and integration of internal and external stimuli. Dysfunctions in this system lead to sensory processing disorders (SPDs), which affect approximately 5–13% of children aged 4–6 years, impacting not only sensory responsiveness but also social interaction, emotional regulation, motor coordination, learning, attention, communication, and sleep. Although SPDs have been extensively investigated from molecular to behavioral levels, their underlying neurobiological mechanisms remain debated, and reliable biomarkers are still lacking. Moreover, due to overlapping behavioral manifestations, SPDs are frequently misdiagnosed as attention deficit hyperactivity disorder (ADHD), leading to challenges in accurate diagnosis and treatment planning. This narrative review aims to synthesize current evidence on the neurofunctional and molecular underpinnings of SPDs in relation to ADHD, providing an integrated perspective on their converging and diverging pathways. By comparing neuroimaging and neurophysiological findings across the two conditions, we seek to deepen understanding of their shared mechanisms, clarify diagnostic boundaries, and inform the development of targeted, evidence-based interventions to address a critical gap in the field. Full article

Maintaining homeostasis in the body through water and sodium management is essential, and the central nervous system and kidneys play a key role in this process. However, knowledge of the diagnosis and treatment of these conditions in pediatric patients is still unsystematized. There are no up-to-date guidelines on managing children with sodium imbalance. Since sodium shifts are inextricably linked to water changes in the body, they should always be pondered together. Each of the sodium disorders should be considered in the context of changes in the vascular volume, whether it is hypo-, eu-, or hypervolemic. This review describes the most common sodium-water disorders encountered in pediatric clinics. It emphasizes conditions affecting the brain-kidney axis (syndrome of inappropriate antidiuresis, cerebral salt wasting syndrome, and central and nephrogenic diabetes insipidus). The article proposes diagnostic and therapeutic management based on scientific society publications, case series, and the authors’ clinical experience, and summarizes the available knowledge as of 2025 to improve the care of patients with hyponatremia or hypernatremia. A proper understanding of the physiology of sodium homeostasis is crucial for implementing appropriate treatment and reducing the risk of severe complications in young patients in the future. Full article

Background: Congenital Insensitivity to Pain and Anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by congenital analgesia, anhidrosis, and multisystem involvement affecting the musculoskeletal, cutaneous, oral, and para-oral structures. This case report describes the oral phenotype and multidisciplinary clinical management of a child with CIPA. Case Description: A 9-year-old boy presented with poor oral hygiene, multiple severely damaged teeth, masticatory difficulty, limited mouth opening, impaired bolus control, and para-oral traumatic injuries. Medical and orthopedic history indicated recurrent painless fractures, self-inflicted injuries, cutaneous scarring, and recurrent hyperpyrexia. Oral self-injury associated with CIPA was suspected and supported by the Nociception Assessment Test and Minor’s Iodine–Starch Test. Although the clinical findings were suggestive of CIPA, the diagnosis remained presumptive due to the absence of confirmatory molecular or histopathological testing. Management: A wearable wireless continuous temperature-monitoring device was prescribed to assist in tracking hyperpyrexia associated with CIPA (RHA-CIPA). A conservative, staged, multidisciplinary treatment was planned rather than full-mouth extraction, emphasizing prevention of dental sepsis and mitigation of future self-injury. Dental procedures were performed under local anesthesia to manage discomfort related to tactile hyperesthesia. To reduce nocturnal biting and oral trauma, a hard acrylic occlusal protector was fabricated using an intraoral scanner and a 3D-printed cast. The patient was followed for 12 months. Outcomes: At the 12-month follow-up, clinical improvement was observed, with particularly notable gains in cheek elasticity and soft tissue resilience. Conclusions: This case highlights the considerable challenges involved in the interdisciplinary management of children with CIPA, including oral self-injury prevention, limited mouth opening, and the necessity of close coordination with medical specialties. These findings are descriptive observations of a single case and do not establish efficacy or generalizability of any intervention. Full article

Background and Objectives: This study aimed to examine the severity of misophonia symptoms in individuals diagnosed with obsessive–compulsive disorder (OCD) and to evaluate the pattern of the relationship between misophonia and OCD symptom severity in relation to anxiety sensitivity and mindfulness. Materials and Methods: This comparative and cross-sectional study included 108 patients diagnosed with OCD according to DSM-5 criteria and 81 healthy control subjects without any psychiatric diagnosis. Participants completed the Misophonia Symptom List (MSL), Anxiety Sensitivity Index-3 (ASI-3), Mindful Attention Awareness Scale (MAAS), Yale–Brown Obsessive Compulsive Scale (Y-BOCS), and Beck Anxiety Inventory (BAI). Statistical analyses included group comparisons, Pearson correlations, multiple linear regression, and mediation analyses using the PROCESS macro. Results: MSL scores were significantly higher in the OCD group compared to the control group (104.10 ± 33.00 vs. 87.56 ± 20.07, p < 0.001). ASI-3 (33.53 ± 18.72 vs. 18.12 ± 11.55, p < 0.001) and BAI scores (20.74 ± 13.14 vs. 11.04 ± 8.47, p < 0.001) were higher; MAAS scores were lower (53.23 ± 14.92 vs. 60.72 ± 12.70, p < 0.001). In the OCD group, MSL scores were positively correlated with anxiety sensitivity (r = 0.626, p < 0.001) and Beck anxiety (r = 0.515, p < 0.001) and negatively correlated with MAAS (r = −0.357, p < 0.001). In multiple regression analysis, anxiety sensitivity was identified as the only variable significantly predicting misophonia severity (β = 0.523, p < 0.001). Mediation analyses showed that anxiety sensitivity emerged as the dominant indirect pathway between OCD symptom severity and misophonia, whereas the contribution of mindfulness was not independent of anxiety sensitivity in the serial mediation model. Conclusions: The findings indicate that misophonia symptoms are significantly elevated in individuals diagnosed with OCD and that these symptoms are particularly associated with cognitive-emotional variables such as anxiety sensitivity and mindfulness. Given the cross-sectional design, the mediation findings should be interpreted as indirect associations rather than evidence of causal pathways. Considering these variables may be useful in assessing misophonia symptoms accompanying OCD and planning clinical approaches. Full article

Background: Oral potentially malignant disorders (OPMDs) often exhibit heterogeneous clinical features, making the early detection of dysplasia very difficult. Several chemiluminescence-based devices, like ViziLite^®, have been suggested as non-invasive adjuncts that can enhance the visualization of suspicious mucosal changes. However, their true diagnostic value remains unclear. Methods: A systematic review and meta-analysis were conducted in line with PRISMA 2020 guidelines. Thirteen clinical studies met the inclusion criteria, necessitating chemiluminescence as index test and histopathology as reference standard, with extractable 2 × 2 diagnostic data. For all OPMDs and leukoplakia-only subgroups, pooled sensitivity and specificity, DOR, SROC curves, and device-specific diagnostic accuracy were determined. Results: Of all the OPMDs, chemiluminescence demonstrated a high pooled sensitivity of 0.82 and a low specificity of 0.48 with considerable heterogeneity among studies. The results in the leukoplakia subgroup improved sensitivity of 0.87 and a specificity of 0.51 were recorded with a more concave SROC curve, which illustrated a better discriminative ability in keratinized lesions. Comparison of devices illustrates accuracy was best for ViziLite + Lugol iodine (~0.82) followed by standard ViziLite (~0.62) and ViziLite Plus (~0.53). Conclusions: Chemiluminescence, while it may demonstrate good sensitivity, has repeatedly shown to have limited specificity in a consistent manner, particularly in populations with mixed OPMD where inflammatory and benign lesions inflate the false-positive rates. Notably, diagnostic performance was higher in leukoplakia, suggesting that keratinized lesions benefit most from this adjunctive tool. Overall, chemiluminescence may facilitate lesion visualization and biopsy site selection but cannot supplant histopathological examination as a definitive diagnostic modality. Full article

Background: Osteoarthritis (OA) is a prevalent chronic degenerative disorder, with coxarthrosis (hip OA) and gonarthrosis (knee OA) representing its most significant clinical manifestations. While diagnosis typically relies on imaging, such methods can be resource-intensive and insensitive to early disease trajectories. Objective: This study aims to achieve the differential diagnosis of coxarthrosis and gonarthrosis using solely routine preoperative clinical and laboratory data, benchmarking state-of-the-art machine learning algorithms. Methods: A retrospective analysis was conducted on 893 patients (617 with knee OA, 276 with hip OA) from a clinical hospital in Almaty, Kazakhstan. The study evaluated a diverse portfolio of models, including gradient boosting decision trees (LightGBM, XGBoost, CatBoost), deep learning architectures (RealMLP, TabDPT, TabM), and the pretrained tabular foundation model RealTabPFN v2.5. Results: The RealTabPFN v2.5 (Tuned) model achieved superior performance, recording a mean ROC–AUC of 0.9831, accuracy of 0.9485, and an F1-score of 0.9474. SHAP interpretability analysis identified heart rate (66.2%) and age (18.1%) as the dominant predictors driving the model’s decision-making process. Conclusion: Pretrained tabular foundation models demonstrate exceptional capability in distinguishing OA subtypes using limited clinical datasets, outperforming traditional ensemble methods. This approach offers a practical, high-performance triage tool for primary clinical assessment in resource-constrained settings. Full article