Search Results (59,658)

Background: Blood pressure elevation in children is an important health concern. The extent to which hypertension is diagnosed in German pediatric practices is not yet known. The aim of this study is, therefore, to examine the prevalence of hypertension diagnosis in children and adolescents treated in pediatric practices, as well as the factors associated with hypertension in this population. Methods: This retrospective case–control study used electronic medical records from 258 primary care pediatricians in Germany and included children and adolescents aged 0–17 years with an initial documented diagnosis of primary hypertension between January 2005 and December 2023. Hypertension patients were matched 1:5 with non-hypertension patients by age and sex. Conditional multivariable logistic regression models were used to estimate the association of chronic diseases and therapies with a risk of hypertension. Results: After 1:5 matching, the present study included 7482 children and adolescents with hypertension, and 37,410 controls without hypertension. The average prevalence of hypertension was 0.12% and the incidence was 1.24 cases per 1000 person-years, both increasing with age. In the multivariable regression analysis, a significant positive association was observed between hypertension and ten disorders including obesity (odds ratio, OR: 6.91; 95% confidence intervals, CI: 6.28–7.60), type 1 diabetes mellitus (OR: 2.85; 95% CI: 2.13–3.82), dyslipidemia (OR: 1.99; 95% CI: 1.46–2.72), chronic bronchitis (OR: 1.63; 95% CI: 1.39–1.90), hypothyroidism (OR: 1.62; 95% CI: 1.30–2.02), migraine (OR: 1.52; 95% CI: 1.17–1.98), ADHD (OR: 1.45; 95% CI: 1.28–1.65), scoliosis (OR: 1.40; 95% CI: 1.13–1.73), chronic rhinitis (OR: 1.31; 95% CI: 1.14–1.50), and reaction to severe stress and adjustment disorders (OR: 1.31; 95% CI: 1.04–1.65). Furthermore, paracetamol prescription was positively associated with hypertension risk (OR: 1.68; 95% CI: 1.41–2.00). Conclusions: The significant associations between hypertension and chronic disorders, particularly obesity, underscore the need for early prevention strategies. Prospective studies are needed to confirm these associations. Similarly, pathophysiological and mechanistic explanations for the associations identified need to be explored and verified in properly designed studies. Full article

Background: Gaucher disease (GD) is an autosomal recessive lysosomal disease. Extended neonatal screening currently includes GD in several different regions. Decision on when to start enzyme replacement therapy (ERT) upon confirmed diagnosis or upon appearance of first clinical manifestation of the disease remains an unmet need. Methods: We report our preliminary experience in tightly monitoring blood levels of glucosyl-sphingosine (lyso-Gb1), on DBS at birth and then every 4 weeks, in the absence of ERT in three consecutive newborns identified for GD as part of a screening program. Results: Initial lyso-Gb1 values were above cut-off. In two cases, lyso-Gb1 levels showed a reduction during the first 3 months of life and, by month 4, they had reached a value lower than the upper normal value. In the case of the third child, after an initial drop to less than 50% of the initial value, lyso-Gb1 levels remained pretty stable at the following four time-points. At the time of writing, all remain free from any disease manifestation at the age of 20, 11 and 8 months, respectively, with normal physical growth and blood count; therefore, ERT has not been started yet. Conclusions: A specific threshold for lyso-Gb1 value to be considered as associated with non-reversible progression to disease is not yet defined. We hypothesize that a trend toward stable increase of this biomarker, confirmed at repeated evaluation, rather than a single threshold, could be convincing for starting ERT even before clinical manifestation of the disease. Full article

Background: Macrophage activation syndrome (MAS) is a hyperinflammatory and potentially fatal complication associated with rheumatologic disorders. In Kawasaki disease (KD), MAS is a rare and poorly described condition, making its differentiation from a severe, treatment-resistant presentation of KD particularly challenging. Objective: We aimed to describe MAS in KD by analyzing its epidemiological, clinical, and laboratory characteristics, complications, therapeutic strategies, and outcomes. Methods: A comprehensive literature review of PubMed, Embase, Scopus, and Cochrane Library was conducted to identify English-language studies on KD complicated by MAS, including case reports and case series, until 15 November 2024. Results: A total of 176 pediatric patients (60 females; median age 4 years, range 0.13–17) from 48 articles were included. MAS occurred after or simultaneously with KD diagnosis in 174/176 cases (99%). Common features included fever (100%), splenomegaly (49.4%), and hyperferritinemia (98.2%). Cardiac involvement was reported in 37% of children. The HLH-2004 criteria were met in 63% of cases, while the 2016 Ravelli criteria for MAS complicating systemic juvenile idiopathic arthritis were met in 94%. Treatment included additional doses of IVIG (36.2%), GCs (82.8%), cyclosporine A (28.7%), and biologics (13.8%), with complete MAS resolution in 93% of cases. Conclusions: MAS in KD is a rare but severe complication, with overlapping features that make its differentiation from severe and resistant KD challenging. Persistent fever despite initial IVIG administration, along with splenomegaly and hyperferritinemia, emerge as key warning signs. Ravelli criteria provide stronger diagnostic support compared to the HLH-2004 criteria. Moreover, MAS is associated with increased cardiac involvement. Full article

Richter’s syndrome (RS) or transformation of chronic lymphocytic leukemia (CLL) into a more aggressive lymphoma (e.g., diffuse large B cell lymphoma, DLBCL) is a distinct disease that portends an overall poor prognosis and remains a challenge for clinicians to identify and treat effectively. This review of the current literature focuses on the pathology, diagnosis, and management of Richter’s syndrome. Clonally related RS has been found to have a worse prognosis than unrelated disease and the genomic profile of DLBCL-RS differs from that of de novo DLBCL. The standard of care therapy for RS has historically been chemoimmunotherapy; consolidative stem cell transplants have a role in improving durability of disease response. Given generally poor response rates to chemotherapy, there have been recent investigations into combination treatments with immune checkpoint inhibitors and small molecule targeted therapies, which have had mixed results. Additional studies are evaluating the use of bispecific antibodies, chimeric antigen receptor T cell therapy, and antibody drug conjugates. RS remains difficult to manage; however, advancements in the understanding of the underlying pathology of transformation and continued investigations into new therapies demonstrate promise for the future. Full article

Background: Barrett’s esophagus (BE) is a known precursor to esophageal adenocarcinoma (EAC). However, reports on incidence and progression-to-neoplasm rates have been very variable and conflicting. The aims of the study were to evaluate the characteristics of BE and its progression to neoplasm in a large homogeneous population. Methods: This was a retrospective population-based study with patients identified from 11 institutions through the databases in two centralized pathology laboratories. Demographics and relevant clinicopathological features were obtained from medical records among patients with a pathologically confirmed BE by the presence of intestinal metaplasia between 2003 and 2022. Results: A total of 1388 patients were identified with BE: 948 were men (69%); the median age at diagnosis was 62 years (IQR, 53–72). The ratio of long-segment BE to short-segment BE was significantly higher in patients ≥ 60 years (1.15, 284/248) than those ≤ 60 years (0.77, 205/265) (p = 0.0025). At BE diagnosis, 9.4% had neoplasms: LGD (n = 65), HGD (n = 16), and EAC (n = 49). Among 1258 non-dysplastic BE (NDBE) patients, 4.6% developed a neoplasm—LGD (n = 35), HGD (n = 8), and EAC (n = 15)—with a median observation-period of 5 years (IQR, 3–7). Overall, 160 cases with neoplasms were diagnosed in this BE cohort; 130 (74%) were present at initial BE diagnosis, and 58 (26%) progressed to neoplasms from NDBE. Conclusions: The ratio of long-segment BE was found to be significantly higher in patients ≥ 60 years. Around 9% of the patients were diagnosed as harboring a neoplasm concomitantly with BE, accounting for approximately 74% of all neoplasms. After a median follow-up of 5 years, about 5% of BE showed dysplastic or malignant progression. Full article

Background: Brain tumor diagnosis requires precise and timely detection, which directly impacts treatment decisions and patient outcomes. The integration of deep learning technologies in medical diagnostics has improved the accuracy and efficiency of these processes, yet real-time processing remains a challenge due to the computational intensity of current models. This study introduces the Real-Time Object Detector for Medical Diagnostics (RTMDet), which aims to address these limitations by optimizing convolutional neural network (CNN) architectures for enhanced speed and accuracy. Methods: The RTMDet model incorporates novel depthwise convolutional blocks designed to reduce computational load while maintaining diagnostic precision. The effectiveness of the RTMDet was evaluated through extensive testing against traditional and modern CNN architectures using comprehensive medical imaging datasets, with a focus on real-time processing capabilities. Results: The RTMDet demonstrated superior performance in detecting brain tumors, achieving higher accuracy and speed compared to existing CNN models. The model’s efficiency was validated through its ability to process large datasets in real time without sacrificing the accuracy required for a reliable diagnosis. Conclusions: The RTMDet represents a significant advancement in the application of deep learning technologies to medical diagnostics. By optimizing the balance between computational efficiency and diagnostic precision, the RTMDet enhances the capabilities of medical imaging, potentially improving patient outcomes through faster and more accurate brain tumor detection. This model offers a promising solution for clinical settings where rapid and precise diagnostics are critical. Full article

Introduction: Vasovagal syncope is a prevalent condition marked by transient loss of consciousness due to abrupt decreases in systemic blood pressure and/or heart rate. Despite its clinical impact, the underlying haemodynamic mechanisms remain poorly defined, and data on age-related differences are limited and sometimes contradictory. Objectives: This study aimed to characterise haemodynamic adaptation patterns during a head-up tilt (HUT) test in adult (≥18 years) and paediatric (<18 years) patients with recurrent reflex syncope, compared with healthy adult controls. We sought to identify distinct temporal haemodynamic signatures and clarify potential age-related differences in syncope mechanisms. Methods: In this prospective observational study, participants underwent continuous beat-to-beat monitoring of cardiac output (CO), stroke volume (SV), heart rate (HR), and total peripheral resistance (TPR) during HUT. Linear mixed-effects models were used to examine time-by-group interactions, and post-hoc analyses were adjusted for multiple comparisons. Effect sizes and confidence intervals (CIs) were reported to quantify the magnitude of differences. Results: A total of 187 fainters (paediatric n = 81, adult n = 106) and 108 non-fainters (including 30 healthy controls) were studied. Compared to adult fainters, paediatric fainters showed a 24% larger decline in CO from baseline (mean difference of 1.1 L/min [95% CI: 0.5–1.7], p = 0.003) and a 15–20 bpm higher peak HR (p = 0.001) during presyncope. Both subgroups experienced significant drops in TPR, which were more pronounced in paediatric fainters (effect size = 0.27, 95% CI: 0.12–0.42). Non-fainters (including controls) maintained relatively stable haemodynamics, with no significant decrease in CO or TPR (p > 0.05). Age-related comparisons indicated a heavier reliance on HR modulation in paediatric fainters, leading to an earlier transition from compensated to pre-syncopal states. Conclusions: These findings demonstrate that paediatric fainters exhibit more abrupt decreases in CO and TPR than adults, alongside higher HR responses during orthostatic stress. Targeted interventions that address this heightened chronotropic dependency—such as tilt-training protocols or strategies to improve venous return—may be particularly beneficial in younger patients. An age-specific approach to diagnosis and management could improve risk stratification, minimise recurrent episodes, and enhance patient outcomes. Full article

Background: The worldwide increase in the prevalence of childhood obesity necessitates effective prevention and treatment strategies. Clinical practice guidelines (CPGs) offer guidance, but significant heterogeneity or lack of practical application exists in their recommendations. The purpose of the present study is to provide an expert, comprehensive, and comparative analysis of gaps in current CPGs for the prevention and treatment of obesity in children and adolescents. Results: A total of 14 CPGs were identified, focusing on childhood obesity prevention (n = 11), treatment (n = 9), or both (n = 6). Prevention CPGs generally recommend body mass index (BMI) assessment, but specific measurement frequency is often absent. While some provide age-specific dietary recommendations, graphical tools are lacking. Recommendations for increased physical activity and reduced screen time are common, but age-stratified guidance is deficient. Furthermore, recommendations regarding mental health and sleep are notably absent. Treatment CPGs utilize BMI for obesity diagnosis, but inconsistencies in cut-off points persist. Comorbidity assessment is generally recommended, yet age-specific guidance remains lacking. Dietary recommendations are present in most CPGs, but many lack detailed specifications (e.g., meal frequency, portion sizes, macronutrient distribution, age-appropriate examples). Most CPGs advocate for 60 min of daily physical activity and limit screen time to 2 h per day. Recommendations concerning sleep are consistently absent. While parental involvement is acknowledged, specific guidance for active participation in prevention and treatment is deficient. Pharmacological treatment options are frequently outdated, and surgical intervention is reserved for exceptional cases of severe obesity. Conclusions: Standardizing BMI cut-off points and defining age groups across CPGs would improve consistency and comparability in the diagnosis, prevention, and treatment of childhood obesity. Tailoring recommendations for diet, physical activity, sedentary behavior, and sleep to specific age groups would ensure developmentally appropriate interventions. A stronger emphasis on early prevention strategies is needed to address the root causes of obesity. Clear guidance for parents and families would facilitate their active engagement in prevention and treatment. Up-to-date information regarding pharmacological and surgical treatments is imperative. Full article

In recent years, advances in diagnosing and classifying diseases using machine learning (ML) have grown exponentially. However, due to the many privacy regulations regarding personal data, pooling together data from multiple sources and storing them in a single (centralized) location for traditional ML model training are often infeasible. Federated learning (FL), a collaborative learning paradigm, can sidestep this major pitfall by creating a global ML model that is trained by aggregating model weights from individual models that are separately trained on their own data silos, therefore avoiding most data privacy concerns. This study addresses the centralized data issue with FL by applying a novel DataWeightedFed architectural approach for effective fundus disease diagnosis from ophthalmic images. It includes a novel method for aggregating model weights by comparing the size of each model’s data and taking a dynamically weighted average of all the model’s weights. Experimental results showed a small average 1.85% loss in accuracy when training using FL compared to centralized ML model systems, a nearly 92% improvement over the conventional 55% accuracy loss. The obtained results demonstrate that this study’s FL architecture can maximize both privacy preservation and accuracy for ML in fundus disease diagnosis and provide a secure, collaborative ML model training solution within the eye healthcare space. Full article

Background/Objectives: To screen a group of adolescents with Down Syndrome (Trisomy 21) for keratoconus and assess the feasibility of setting up a national screening service. Methods: Twenty-seven patients with Down Syndrome between 9 and 18 years of age attended our pilot keratoconus screening clinic. We recorded demographics, medical history, risk factors, best-corrected distance visual acuity, clinical examination results and corneal tomography results. The presence of keratoconus was confirmed by one of three corneal specialists based on clinical and tomographic findings. Tomographic analysis included zonal Kmax, thinnest point, inferior–superior asymmetry (IS Values), Belin/Ambrosio deviation value (BAD-D) and anterior and posterior elevation maps. Results: Early keratoconus was detected on tomography in 8 out of 54 eyes (15%) at the first review. These eyes were listed for crosslinking. The mean age of diagnosis was 14.6. Corneas in the Down Syndrome screening group were thinner and steeper (mean central corneal thickness (CCT) 479 µm vs. 536 µm and mean Kmax 49.2D vs. 45.8D, respectively) than healthy, age-matched controls from the literature. Conclusions: Fifteen percent of eyes (5 out of 27 patients) screened had tomographic evidence of keratoconus requiring treatment at their first review. We found an increased incidence of keratoconus in European individuals with Down Syndrome. Screening this vulnerable, high-risk population with corneal tomography can diagnose early keratoconus and enable corneal crosslinking to safely and effectively stabilise the disease. We advocate tomographic keratoconus screening for individuals with Down Syndrome in their mid-teens. Full article

Background and Clinical Significance: The current paper presents a retrospective case of a 79-year-old female patient admitted to the Dermatology Clinic of Emergency City Hospital in Timisoara, Romania, in January 2022, reporting intense pruritus and burning sensation of the skin exacerbated at night. Case Presentation: The previously mentioned symptoms appeared approximately six months prior, with gradual and continuous progression. Clinical examination revealed widespread hyperkeratosis on diffuse erythematous background across the entire body, accompanied by crusted lesions predominantly on the arms and legs. Laboratory values showed elevated absolute eosinophil count as well as a positive culture swab to Staphylococcus aureus. Two incisional skin biopsies were performed. Microscopic examination in Hematoxylin–Eosin staining revealed thickened stratum corneum with numerous oval-shaped mites with exoskeleton and striations and moderate perivascular lympho-eosinophilic infiltrate in the superficial dermis, leading to a positive diagnosis of crusted scabies. Following etiological treatment, the patient’s evolution was undulating and on the 10th day of hospitalization presented marked dyspnea, followed by cardiorespiratory arrest, leading to the patient’s death. Conclusions: The patient’s outcome could be explained by a Th2-mediated allergic response to Sarcoptes scabiei allergens, in addition to the presence of Staphylococcus aureus on the damaged skin, as dysbiosis can further support an uncontrolled Th2 reaction, leading to anaphylaxis. Full article

Manipulator robots hold significant importance for the development of intelligent manufacturing and industrial transformation. Manufacturers and users are increasingly focusing on fault diagnosis for manipulator robots. The voltage, current, speed, torque, and vibration signals of manipulator robots are often used to explore the fault characteristics from a frequency perspective, and temperature and sound are also used to represent the fault information of manipulator robots from different perspectives. Technically, manipulator robot fault diagnosis involving human intervention is gradually being replaced by new technologies, such as expert experience, artificial intelligence, and digital twin methods. Previous reviews have tended to focus on a single type of fault, such as analysis of reducers or joint bearings, which has led to a lack of comprehensive summary of various methods for manipulator robot fault diagnosis. Considering the needs of future research, a review of different fault types and diagnostic methods of manipulator robots provides readers with a clearer reading experience and reveals potential challenges and opportunities. Such a review helps new researchers entering the field avoid duplicating past work and provides a comprehensive overview, guiding and encouraging readers to commit to enhancing the effectiveness and practicality of manipulator robot fault diagnosis technologies. Full article

Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder marked by abdominal pain and irregular bowel habits. Recently, more and more evidence supports gut microbiota imbalance in IBS and highlights the potential of probiotics in restoring gut health and reducing symptoms. In this study, we explored the effects of Lactococcus cremoris PS133 (PS133) on an IBS-like condition in rats triggered by 5-hydroxytryptophan (5-HTP), a serotonin precursor. Eight-week-old Sprague Dawley rats received either PS133 or saline for 14 days, followed by 5-HTP to induce IBS-like symptoms. Colorectal distension tests showed that PS133 reduced visceral hypersensitivity. PS133 also protected intestinal mucin against 5-HTP-induced degradation, as seen in alcian blue staining, and increased the levels of tight junction proteins (occludin and zonula occludens-1) in the colon, indicating improved gut barrier integrity. Additionally, PS133 normalized the levels of substance P (a neuropeptide) in the spinal cord and altered 5-hydroxyindoleacetic acid (a serotonin metabolite) in the brain. Gut microbiota analysis revealed PS133 regulated specific bacterial groups, including [Eubacterium]_coprostanoligenes_group and Lactococcus. Overall, PS133 improved gut function, reduced IBS-like symptoms, and modulated gut microbiota, neurotransmitters, and intestinal barrier health in this IBS model. Full article

Food allergies are increasingly frequent immune system reactions triggered by allergens present in food, which can affect quality of life. To investigate the impact of food allergies among Spanish adults and the influence of gender and age of diagnosis, an online survey using the shortened version of the Adult Food Allergy Quality of Life Questionnaire (FAQLQ) was conducted. A total of 134 participants with food allergies were enrolled in the exploratory study. Significant differences (p ≤ 0.050) were found in the perception of the emotional and social impact of food allergies on quality of life. Age of diagnosis (childhood, adolescence, or adulthood) had a greater influence on more variables than gender. Men reported greater fear of accidentally consuming something that could trigger an allergic reaction compared to women (p = 0.003), while women felt more excluded due to their allergies (p = 0.030). Overall, the perception of eating out was characterized by insecurity. The quality of life of individuals with food allergies could be improved through the use of pictograms on labels, menus, and increased training in the foodservice industry regarding allergens. Multiple additional investigations are recommended to generalize current findings. Full article

We aimed to develop a multiple logistic regression model for predicting the occurrence of metabolic syndrome (MetS) using homeostasis model assessment of insulin resistance (HOMA-IR) levels, gender, age, and Diabetes Mellitus (DM) status, and to evaluate its predictive accuracy. Data from 6134 participants in the 2019 Korea National Health and Nutrition Examination Survey were analyzed. MetS was diagnosed using the Adult Treatment Panel III criteria. A logistic regression model was developed based on the regression coefficients of each variable. Model performance was evaluated through a receiver operating characteristic analysis, revealing an overall area under the curve (AUC) of 0.819, a sensitivity of 80%, and a specificity of 68.9%. Age-specific analysis showed that the model’s predictive power was highest among those aged 20–29 years (AUC: 0.864). Conversely, the AUC progressively decreased in individuals aged ≥50 years, indicating reduced predictive power in older adults. These findings suggest the importance of adopting a multidimensional approach that considers HOMA-IR, age, gender, and DM status for predicting MetS. The developed prediction model can be used as a valuable tool for the early diagnosis of MetS and the development of tailored MetS prevention programs. It also provides foundational data for shaping public health policies related to MetS. Full article