Search Results (3,926)

Sensors are an established driver of diagnostics and prevention in the medical field, including orthopaedics. Today, the subclass of ion-selective sensors (ISSs) is on the leading edge due to its advantages, enabled by technological advancements in manufacturing, such as miniaturization, precision, accuracy, specificity, a wide measuring scale, ease of use, flexible operating conditions, and measuring speed. While ISSs’ impact on environmental and health fields is already the subject of investigation, it still needs to be analysed specifically in orthopaedics, which is the aim of this Review. A PubMed and Scopus search was performed using the keywords “ion”, “sensor”, “electrodes”, “selective”, “musculoskeletal”, “implant”, “joint replacement”, and “orthopaedic”; after systematic screening, 44 studies were included in the synthesis. First, studies were classified based on the target ion. Only a few papers treated applications specifically in orthopaedics, confirming that ISSs are still largely an unexplored frontier here. However, all of the studies targeted ions with a role also in musculoskeletal pathophysiology, thus relative ISSs could have a potential impact on orthopaedic diagnosis and treatment. Then, when described by the papers, ISSs’ technological solutions were systematically evaluated. Finally, the main ISSs development targets for reaching orthopaedic clinical application were highlighted, including biocompatibility (e.g., implantability), long-term stability, calibration, and validation. Overcoming these challenges will enable ISSs to progress from laboratory prototypes to clinically viable tools, supporting the advancement of next-generation sensorised prostheses, fixation devices, and surgical instruments, and paving the way for predictive and personalised orthopaedic medicine. Full article

Paraneoplastic endocrine syndromes (PESs) are hormonal disturbances associated with malignancies that result from tumor-related production of hormone-like substances, immune-mediated mechanisms, or dysregulated signaling pathways. While they are well recognized in lung and neuroendocrine cancers, their relevance in gastrointestinal tumors remains less clearly defined. This narrative review synthesizes current knowledge on paraneoplastic endocrine manifestations in gastrointestinal malignancies, based on a structured search of the literature in major databases, including PubMed, Scopus, and Web of Science. The analysis focuses on clinically relevant syndromes such as hypercalcemia, Cushing-like manifestations, disorders of water balance, hypoglycemia, and acromegaly, with emphasis on underlying mechanisms, associated tumor types, diagnostic approaches, and therapeutic considerations. Available evidence indicates that gastrointestinal tumors can produce a range of biologically active substances, leading to diverse endocrine manifestations that may precede tumor detection and influence disease course. Among these, hypercalcemia and Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) are among the most frequently reported, while other syndromes, such as ectopic Cushing syndrome or tumor-related hypoglycemia, are less common but often associated with more severe clinical outcomes. Recognition of these manifestations has direct clinical implications, as they may support earlier diagnosis, contribute to prognostic assessment, and guide therapeutic management. Improved awareness and a multidisciplinary approach remain essential for optimizing outcomes in patients with gastrointestinal malignancies. Full article

Retinal detachment (RD) is a potentially sight-threatening condition that requires timely diagnosis and appropriate surgical management. In macula-off rhegmatogenous retinal detachment (RRD), visual recovery after successful reattachment remains highly variable, highlighting the need for reliable preoperative prognostic markers. This study focuses on the contribution of advanced retinal imaging to the preoperative assessment of macula-off RRD, summarizing current evidence on imaging-derived biomarkers associated with disease severity and postoperative functional outcome. In this narrative review, we analyze studies employing spectral-domain and swept-source optical coherence tomography (SD-OCT and SS-OCT), OCT angiography (OCT-A), and adaptive optics OCT (AO-OCT) to characterize microstructural and microvascular retinal alterations. Emerging approaches, including ultra-widefield OCT (UWF-OCT) and artificial intelligence-based image analysis, are also discussed for their potential role in refining diagnosis, supporting surgical planning, and improving prognostic stratification. While several imaging parameters appear promising, their prognostic value is not yet fully realized. Further prospective studies are required to validate clinically meaningful imaging biomarkers and to integrate advanced imaging into routine preoperative decision-making for macula-off RRD. Full article

Background: Viral meningoencephalitis is a frequent cause of acute central nervous system infection in children, particularly in neonates and young infants. Although etiological diagnosis has improved through molecular testing, management remains largely supportive, and intravenous immunoglobulins (IVIGs) are occasionally used in clinical practice despite limited supporting evidence. Methods: We performed a single-center retrospective observational study including pediatric patients aged 0–10 years admitted between 2016 and 2025 with molecularly confirmed viral meningoencephalitis. Demographic, clinical, microbiological, therapeutic, and follow-up data were collected. Neurological outcomes and length of hospital stay were compared between patients treated with IVIG and those who were not. Results: Twenty-nine patients were included. Enterovirus was the most frequently identified pathogen (50.0%), followed by human herpesvirus (35.7%) and human parechovirus (14.3%). IVIG was administered to 28% of patients, all with enterovirus infection. IVIG-treated patients were significantly younger at presentation and more frequently presented with apnea (42.9% vs. 0%, p = 0.014). Most patients had a favorable neurological outcome (85.7%). Unfavorable outcomes, including neurodevelopmental delay and/or epilepsy, occurred in a minority of cases (14.3%) and exclusively in enterovirus-infected patients. No significant association was found between IVIG administration and neurological outcome. Conclusions: In this real-world pediatric cohort, IVIG use was associated with more severe clinical features rather than improved neurological outcomes, underscoring the need for careful consideration and further investigation in this setting, particularly in the subgroup of infants with enterovirus encephalitis. Full article

Background: Hepatitis D virus (HDV) causes one of the most severe forms of chronic viral hepatitis. Despite its severity, universal screening of hepatitis B surface antigen (HBsAg)-positive individuals, as recommended by European guidelines, is not widely implemented. This study aimed to evaluate the yield of reflex HDV testing and to characterize HBV carriers who tested positive or negative for anti-HDV. Methods: A retrospective cohort study was conducted using the Clalit Health Services database in northern Israel (2014–2024). HBsAg-positive patients were categorized into two groups: those screened for HDV via reflex testing (2019–2024) and those tested based on clinical discretion (2014–2019). We compared these cohorts to evaluate the impact of reflex screening on coverage, diagnostic yield, and time to diagnosis. Results: Among 1336 HBsAg-positive individuals, HDV screening rates increased from 57.5% to 93.1% following reflex implementation. HDV seropositivity increased from 3.17% to 6.48% (p = 0.02). Ethiopian-born individuals had significantly higher positivity than others (10.4% vs. 3.9%, p = 0.0221). The average time from HBV diagnosis to HDV testing decreased from 38.1 ± 31 months (median 37.5) to 1.3 ± 6.1 months (median 0). Conclusions: Anti-HDV reflex testing significantly improved screening coverage, increased detection of anti-HDV seropositive cases and was associated with shorter time to serologic identification. These findings support the integration of reflex testing into national screening policies to enable earlier diagnosis and reduce the burden of infection. Full article

Background/Objectives: Artificial intelligence (AI) tools are increasingly integrated into acute stroke imaging workflows, but real-world performance for ischemia detection on non-contrast CT (NCCT) remains incompletely validated by investigators independent of the developer. This study externally validated the BrainScan AI system in an unselected, consecutively enrolled emergency cohort. Methods: Consecutive adult patients undergoing NCCT under the routine acute stroke protocol at a single tertiary centre between January and December 2025 were prospectively enrolled. The reference standard was the post-consensus radiological diagnosis, supplemented where available by follow-up imaging and clinical course. Primary outcomes were diagnostic accuracy for ischemia and intracranial haemorrhage detection, assessed by sensitivity, specificity, predictive values, likelihood ratios, and area under the ROC curve (AUC; DeLong). Pre-specified secondary analyses included regional sensitivity, confidence-score behaviour, artefact robustness, threshold sensitivity, a cluster-robust bootstrap for within-patient correlation, and a quantitative bias analysis under non-differential reference-standard misclassification. Sample size adequacy was assessed using a precision-based framework. Results: A total of 1419 NCCT examinations from 1260 patients were analysed. Ischemia sensitivity was 59.2% (95% CI 52.1–66.1) and specificity was 99.8% (99.4–100), with an AUC of 0.930 (0.906–0.954). The Youden-optimal threshold (0.055) recovered sensitivity to 86.1% with negligible specificity loss, reflecting a markedly bimodal score distribution. Regional sensitivity was lower in infratentorial structures. Bias-corrected estimates were stable across all reference-standard parameters consistent with the data. Haemorrhage detection performed substantially better (sensitivity 96.7%; AUC 0.983). Conclusions: The system shows excellent specificity and strong discrimination but moderate sensitivity for ischemia, supporting its role as a rule-in adjunct rather than a stand-alone tool, pending multicentre validation and site-specific threshold recalibration. Full article

Background: Focal entrapment of the Common Peroneal (Fibular) nerve (CPN) is the most frequent lower-extremity nerve entrapment yet it can be difficult to diagnose clinically. The Phoenix Sign—an increase in extensor hallucis longus (EHL) motor strength following lidocaine injection—may assist diagnosis. Additional observed effects include improved arterial perfusion and Doppler waveforms. Methods: In this double-blinded, randomized small pilot study, only four patients (N = 4) with diabetic peripheral neuropathy underwent bilateral peripheral nerve blocks with lidocaine or papaverine. The first leg to be tested was randomized; the contralateral leg received a different agent that was randomized initially. Pre- and post-block assessments included motor strength, Doppler velocity of dorsalis pedis and posterior tibial arteries, and near-infrared spectroscopy for microvascular perfusion. Results: All patients demonstrated increased EHL motor strength after injection with either agent. Doppler waveforms of the dorsalis pedis artery improved: lidocaine produced a 151.7% increase in blood flow velocity (p = 0.03), whereas papaverine produced a 16.8% increase (p = 0.19). Posterior tibial artery flow increased by 37.4% with lidocaine (p = 0.06) and 13.9% with papaverine (p = 0.33), but neither was statistically significant. No changes in oxygen saturation, oxyhemoglobin, deoxyhemoglobin, or total hemoglobin were observed using near-infrared spectroscopy. The consistency of motor responses across subjects supports the validity of the Phoenix Sign as a diagnostic tool. Conclusions: Peripheral nerve blocks with lidocaine or papaverine improved motor strength and macrovascular function in patients with diabetic peripheral neuropathy, though microvascular changes were not detected. These preliminary findings are consistent with the Phoenix Sign phenomenon and support further study as a potential clinical indicator. While these preliminary findings indicate support as a diagnostic tool, they are preliminary and hypothesis-generating for evaluating the Phoenix Sign as a potential clinical indicator of CPN entrapment and highlight the need for larger studies to evaluate vascular responses. Trial Registration: NCT06919289 (retrospectively registered 8 April 2025). Full article

Background and Clinical Significance: Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a CD30-positive T-cell lymphoproliferative disorder that can clinically resemble various non-melanoma skin cancers, making diagnosis challenging. Although histopathology remains the diagnostic gold standard, non-invasive imaging modalities such as dermoscopy and reflectance confocal microscopy (RCM) are increasingly used as complementary tools to support the differential diagnosis. To date, no data on RCM features of C-ALCL have been described. Case Presentation: We report the case of an 80-year-old man presenting with a rapidly enlarging nodule on the lateral aspect of his right eyelid, providing a detailed account of dermoscopic and RCM findings integrated with clinicopathological correlation. Dermoscopy revealed a red-orange homogeneous background with white streaks, and polymorphic vascular structures, while subsequent RCM (Vivascope 3000 probe) demonstrated marked architectural disarray of the epidermis and dermoepidemal junction, with prominent epidermal involvement characterized by aggregates of highly reflective cells. In the absence of alternative diagnostic patterns, these features raised suspicion for a cutaneous lymphoproliferative disorder, which was later confirmed by histopathological and immunohistochemical analyses. Conclusions: Our findings support the value of RCM as a practical tool in guiding differential diagnosis and biopsy, particularly for rapidly growing lesions located in anatomically sensitive areas. Full article

Background: Following a significant decline during the 2020–2021 SARS-CoV-2 pandemic, Mycoplasma pneumoniae (MP) experienced a resurgence across Europe in 2023–2024. Although macrolide-resistant MP has increased globally, severe disease can occur even in the absence of resistance, which highlights the importance of rapid molecular characterization for clinical purposes. In this context, clinical severity is often improperly used as a surrogate marker of macrolide resistance, potentially driving unnecessary antibiotic escalation. Methods: We report a severe MP pneumonia occurring during the 2023–2024 resurgence and evaluate macrolide resistance through a rapid two-step workflow (Real Time-PCR screening for A2063G/A2064G followed by confirmatory 23S rRNA sequencing), to assess whether severity predicts resistance and to support antibiotic stewardship. Results: The patient developed acute hypoxic respiratory failure (PaO₂ 54.9 mmHg; P/F ratio 110), extensive centrilobular micronodules on chest CT imaging, significant systemic inflammation and elevated liver enzymes. Respiratory support was escalated from a Venturi mask to a high-flow nasal cannula and BiPAP. MP infection was confirmed by multiplex Real Time-PCR (RT-PCR) and supported by positive IgM/IgG serology. RT-PCR targeting A2063G/A2064G mutations revealed no resistance-associated variants, and Sanger sequencing of an 807 bp 23S rRNA fragment confirmed a wild-type genotype. Despite severe hypoxemic respiratory failure, no resistance-associated variants were detected, documenting a clear severity–genotype mismatch. Clinical and radiological improvement followed second-line antibiotic therapy. Conclusions: Severe MP pneumonia can occur despite the absence of macrolide resistance. During MP re-emergence, clinical severity should not be used to infer macrolide resistance. Integrating nucleic acid amplification test (NAAT) diagnosis with rapid genotyping/confirmatory 23S rRNA sequencing can prevent misclassification, reduce unwarranted broad-spectrum escalation, and strengthen antimicrobial stewardship decisions. Full article

Inherited ichthyoses are clinically and genetically heterogeneous disorders of cornification caused by disruption of epidermal barrier genes involved in keratinization and lipid homeostasis. Pathogenic variants in more than 50 genes have been implicated in nonsyndromic ichthyosis vulgaris (IV) and autosomal recessive congenital ichthyosis (ARCI). Here, we investigated the genetic basis of ichthyosis in four consanguineous Pakistani families presenting with IV or ARCI phenotypes. Exome sequencing followed by segregation analysis identified pathogenic variants in four established ichthyosis-associated genes: CYP4F22, FLG, ALOX12B, and NIPAL4. Identified variants include one novel nonsense allele of CYP4F22 (c.296G>A; p.Trp99*) and three known variants previously not reported in the Pakistani population. These known variants include a nonsense change in FLG, a frameshift allele of ALOX12B, and a missense variant in NIPAL4. Standardized phenotypic annotation using Human Phenotype Ontology terms revealed overlapping but variable clinical features across families, consistent with known genotype–phenotype heterogeneity in inherited ichthyosis. In silico protein modeling using AlphaFold2 and Ramachandran plot analysis predicted structural perturbations associated with the identified variants, supporting their pathogenic relevance. Publicly available scRNAseq datasets revealed greater heterogeneity of keratinocyte-associated expression patterns of these ichthyosis-associated genes in aging samples. Collectively, our findings expand the allelic and phenotypic spectrum of inherited ichthyosis in the Pakistani population and highlight the utility of comprehensive genetic analysis in consanguineous families for accurate molecular diagnosis, genetic counseling, and disease epidemiology. Full article

Background: Metabolic and bariatric surgery is an established therapeutic option for severe obesity and obesity-related medical problems. Although minimally invasive techniques and enhanced recovery pathways have reduced postoperative morbidity, infectious complications remain clinically relevant because they may lead to readmission, reoperation, prolonged antimicrobial therapy, and mortality. Methods: We conducted a narrative review of the literature on infectious complications after metabolic and bariatric surgery. Evidence was synthesized across five clinically relevant domains: host-related pathophysiology, microbial epidemiology, preoperative optimization, antimicrobial prophylaxis and pharmacokinetic considerations, and diagnosis and management of postoperative infectious complications. Results: Patients with obesity present specific infection-related vulnerabilities, including chronic low-grade inflammation, altered immune responses, impaired tissue oxygenation, obesity-related medical problems, and procedure-specific risks. Contemporary prevention relies on multidisciplinary preoperative optimization, appropriate skin antisepsis, weight-based antimicrobial prophylaxis, intraoperative redosing when indicated, and adherence to enhanced recovery principles. Anastomotic leaks and intra-abdominal abscesses represent the most severe organ/space infections and require early recognition, source control, antimicrobial therapy, nutritional support, and coordinated surgical, radiological, and endoscopic management. Conclusions: Infectious complications after metabolic and bariatric surgery result from the interaction between host physiology, microbial factors, pharmacological considerations, and surgical technique. A structured approach integrating prevention, early diagnosis, and multidisciplinary management may improve outcomes. Further bariatric-specific studies are needed to strengthen the evidence base for several preventive and therapeutic strategies. Full article

Computed tomography (CT) is used to support the diagnosis of equine temporomandibular joint (TMJ) disease; however, its diagnostic accuracy remains unclear. This study aimed to evaluate the relationship between CT findings and histopathological manifestations of osteoarthritis (OA) in equine TMJs. A total of 82 TMJs were CT-imaged, sampled, grouped into age-related and OA-related groups, and analyzed for frequency distributions, correlations, and CT-based TMJ OA diagnosis. CT findings were observed in 79% of joints, including ‘CT anatomical variations’ considering to reflect age-related remodeling. Only 50% of joints showed co-occurrence of CT findings and histopathological manifestations of OA, confirming that not all CT findings are indicative of disease. Including all CT findings in the CT-based diagnosis of TMJ OA yielded a specificity of 0.41 (95% CI: 0.26–0.58), suggesting a high rate of false-positive diagnoses. Excluding all ‘CT anatomical variations’ resulted in a sensitivity of 0.56 (95% CI: 0.40–0.72), indicating a substantial number of false-negative diagnoses. However, inclusion of specific ‘CT anatomical variation’—subchondral bone cysts—into the studied CT-based diagnosis increased sensitivity to 0.79 (95% CI: 0.62 to 0.89) while maintaining high specificity of 0.92 (95% CI: 0.80–0.98). Including this subset of CT findings in the diagnosis of equine TMJ OA may improve the accuracy of disease detection; however, the clinical relevance of the present cadaver investigation needs to be confirmed in in vivo studies. Full article

Objectives: To characterize heterozygous pathogenic COCH variants in a French cohort with non-syndromic sensorineural hearing loss (NSHL) and assess genotype–phenotype correlations in autosomal dominant NSHL (DFNA9). Setting: National Reference Center for Genetic Hearing Loss, Necker–Enfants Malades Hospital, Paris, France. Methods: This retrospective observational study included 69 individuals from 20 unrelated families diagnosed with DFNA9 (2005–2025). All individuals underwent clinical and audiological evaluations and genetic testing via targeted COCH Sanger sequencing or next-generation sequencing (NGS) panels. Variants were interpreted according to ACMG guidelines. Audiometric profiles and vestibular data were collected. Results: Seven known pathogenic COCH variants were found in ten families, and ten novel likely pathogenic variants in the others. Variants in vWFA domains were associated with early or late onset, progressive, bilateral and symmetrical hearing loss. Three variants (p.Gln410Arg, p.Ile450Val, p.Cys542Arg) were associated with congenital or prelingual onset, an atypical DFNA9 presentation. Variants in the LCCL domain were associated with later-onset hearing loss and more frequent vestibular dysfunction. Vestibular abnormalities were observed in about half of early-onset cases. Conclusions:COCH-related hearing loss is a rare cause of autosomal dominant NSHL, with only 20 families identified over two decades within the French network. This study expands the mutational spectrum of COCH by reporting ten novel variants and supports a domain-specific genotype–phenotype correlation. These findings improve the understanding of DFNA9 variability and have direct implications for clinical diagnosis, prognosis, and genetic counseling. Full article

Background/Objectives: Heart failure (HF) remains a major cause of global mortality and morbidity; it is, therefore, of paramount importance that diagnosis and prognostication are made timely in order to better improve outcomes and reduce healthcare expenditure. This research presents a novel predictive model of heart failure that combines clinical criteria with demographic factors in order to maximize predictive performance and act as a reliable tool for individualized healthcare intervention. Methods: Complex machine learning techniques, including decision trees, random forest, and deep learning, are applied in analyzing a large dataset of subjects with heart failure. We collected a diverse dataset comprising clinical indicators such as echocardiographic data, biomarkers, electrocardiogram (ECG) features, and demographic information. Data preprocessing techniques, such as feature normalization and handling of missing values, were applied to ensure the integrity and reliability of the dataset. Results: The results indicate that integrating both clinical indicators and demographic characteristics significantly improves the predictive power of the model, compared to models based on clinical indicators alone. Specifically, the hybrid model demonstrated a superior ability to predict short- and long-term outcomes in heart failure patients, offering enhanced accuracy in risk stratification and prognosis prediction. Conclusions: This research highlights the potential of artificial intelligence (AI) and machine learning in revolutionizing heart failure care by providing healthcare professionals with more accurate, data-driven decision support tools. The proposed model not only holds promise for clinical applications but also offers insights for future research into personalized medicine. Full article

This study developed two Causal Graphical Models (CGMs) to analyze the transitions associated with Bacterial Vaginosis (BV) and to identify key bacterial species at each stage. BV results from an imbalance in the vaginal microbiota, whose composition varies among women and across developmental stages. A previous CGM identified influential bacteria but did not address changes between microbiota states. Here, we extend that framework to capture these associations. Path Analysis, a structural equation modeling method based on observed variables that estimates effects through correlations and covariances, was applied to a dataset of 132 pregnant women (4–24 weeks of gestation) from Tabasco, Mexico, previously collected by third parties during healthy pregnancy campaigns and associated with BV diagnosis. Models were validated using statistical metrics and evaluation by a clinical microbiologist. The first model, representing the transition from normal microbiota (BV−) to an indeterminate state (I), identified Megasphaera Type 1 as significant. The second model, from I to bacterial vaginosis-positive (BV+), identified Atopobium vaginae and Bacterial Vaginosis-Associated Bacterium Type 2 as significant contributors. These findings highlight the importance of the intermediate state in dysbiosis progression and support the use of CGMs for studying microbiome dynamics. Full article