Search Results (353)

Nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder characterized by renal resistance to arginine vasopressin (AVP), resulting in the kidneys’ inability to concentrate urine. Approximately 90% of NDI cases follow an X-linked inheritance pattern and are associated with pathogenic variants in the AVPR2 gene, which encodes the vasopressin receptor type 2. The remaining 10% are attributed to mutations in the AQP2 gene, which encodes aquaporin-2, and may follow either autosomal dominant or recessive inheritance patterns. We present the case of a male infant, younger than nine months of age, who was clinically diagnosed with NDI at six months. The patient presented recurrent episodes of polydipsia, polyuria, dehydration, hypernatremia, and persistently low urine osmolality. Despite adjustments in pharmacologic treatment and strict monitoring of urinary output, the clinical response remained suboptimal. Given the lack of improvement and the radiological finding of an absent posterior pituitary (neurohypophysis), the possibility of coexistent central diabetes insipidus (CDI) was raised, prompting a therapeutic trial with desmopressin. Nevertheless, in the absence of clinical improvement, desmopressin was discontinued. The patient’s management was continued with hydrochlorothiazide, ibuprofen, and a high-calorie diet restricted in sodium and protein, resulting in progressive clinical stabilization. Whole-exome sequencing identified a novel homozygous missense variant in the AQP2 gene (c.398T > A; p.Val133Glu), classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria: PM2 (absent from population databases), PP2 (missense variant in a gene with a low rate of benign missense variation), and PP3 (multiple lines of computational evidence supporting a deleterious effect)]. NDI is typically diagnosed during early infancy due to the early onset of symptoms and the potential for severe complications if left untreated. In this case, although initial clinical suspicion included concomitant CDI, the timely initiation of supportive management and the subsequent incorporation of molecular diagnostics facilitated a definitive diagnosis. The identification of a previously unreported homozygous variant in AQP2 contributed to diagnostic confirmation and therapeutic decision-making. The diagnosis and comprehensive management of NDI within the context of polyuria-polydipsia syndrome necessitates a multidisciplinary approach, integrating clinical evaluation with advanced molecular diagnostics. The novel AQP2 c.398T > A (p.Val133Glu) variant described herein was associated with early and severe clinical manifestations, underscoring the importance of genetic testing in atypical or treatment-refractory presentations of diabetes insipidus. Full article

The development of severe SARS-CoV-2 pneumonia is characterized by extensive lung inflammation, which, in turn, leads to respiratory distress and a decline in blood oxygen levels. Hospital admission, along with intensive care or ventilator usage, becomes necessary because this condition leads to serious respiratory problems. This review aims to provide a comprehensive overview of the pathophysiological mechanisms, diagnostic methods, and current therapeutic options for pneumonia caused by the SARS-CoV-2 virus. The pathophysiological process of severe pneumonia due to SARS-CoV-2 infection is characterized by direct lung damage from viral replication, an excessive immune system response, inflammation, impaired gas exchange, and multi-organ failure. The coexistence of various medical conditions leads to substantial lung impairment, resulting in hypoxia and respiratory failure, which can ultimately lead to fatal outcomes. The diagnosis of severe SARS-CoV-2 pneumonia is made through a combination of clinical, radiologic, and laboratory findings. A multifaceted approach integrating antiviral therapy, corticosteroids, oxygen supplementation, ventilatory management, and immunomodulation is imperative to control inflammation and enhance clinical outcomes. Early intervention, meticulous monitoring, and personalized care are paramount for enhancing survival and mitigating complications in critically ill patients with COVID-19 pneumonia. Full article

Background: Community-acquired pneumonia (CAP) is the leading cause of mortality in children from middle- to low-income countries; diagnosing CAP includes clinical evaluation, laboratory testing and pulmonary imaging. Lung ultrasound (LUS) is a sensitive, accessible, non-invasive, non-radiant method for accurately evaluating the lung involvement in acute diseases. Whether LUS findings can be correlated with CAP’s severity or sepsis risk remains debatable. This study aimed to increase the importance of LUS in diagnosing and monitoring CAP. We analyzed 102 children aged 1 month up to 18 years, hospital admitted with CAP. Mean age was 5.71 ± 4.85 years. Underweight was encountered in 44.11% of children, especially below 5 years, while overweight was encountered in 11.36% of older children and adolescents. Patients with CAP presented with fever (79.41%), cough (97.05%), tachypnea (18.62%), respiratory failure symptoms (20.58%), chest pain (12.74%) or poor feeding. Despite the fact that 21.56% had clinically occult CAP and six patients (5.88%) experienced radiologically occult pneumonia, CAP diagnosis was established based on anomalies detected using LUS. Conclusions: Detailed clinical examination with abnormal/modified breath sounds and/or tachypnea is suggestive of acute pneumonia. LUS is a sensitive diagnostic tool. A future perspective of including LUS in the diagnosis algorithm of CAP should be taken into consideration. Full article

This study evaluated the activity concentrations of radionuclides in honey, bee pollen, bee bread, and propolis from multiple regions in Poland (Europe) to assess the levels of radiological contamination and their implications for public health. Furthermore, the work considers the use of bee products as bioindicators of the state of environmental contamination with radionuclides. The apiaries from which the samples were collected were selected in eight provinces in Poland, and are also complemented by reference data from soil contamination monitoring. Radionuclide measurements included both natural (e.g., ⁴⁰K, ²²⁶Ra) and anthropogenic isotopes (e.g., ¹³⁷Cs). The results show that although the overall activity concentrations were generally low, certain locations exhibited elevated levels of ¹³⁷Cs in bee products, likely reflecting historical deposition in soils. Propolis was best correlated with ¹³⁷Cs deposited in soil compared to the other products studied. The patterns observed substantiate the hypothesis that bee products, predominantly propolis, accurately reflect local radiological conditions, thereby providing a practical and non-intrusive approach to monitoring radionuclide contamination and informing risk management strategies. An assessment of potential health risks indicates that the effective dose is safe and ranges from 0.02 to 10.3 µSv per year, depending on the type of product and consumption. Full article

Background: Secukinumab is a fully human monoclonal antibody that targets interleukin (IL)-17A and is used to treat axial spondyloarthritis (axSpA) and psoriatic arthritis (PsA). Treating axSpA and PsA can be challenging in patients with comorbidities. In this multicenter retrospective study, we aimed to evaluate the efficacy and safety of secukinumab treatment in patients with axSpA and PsA who had a history of tuberculosis, multiple sclerosis (MS), or congestive heart failure (CHF). Methods: The study included 44 patients with a diagnosis of axSpA and PsA and a history of tuberculosis, MS, or CHF who received secukinumab treatment at 13 centers in our country. Erythrocyte sedimentation rate, C-reactive protein (CRP), Bath Ankylosing Spondylitis Disease Activity Index, Ankylosing Spondylitis Disease Activity Score CRP, visual analog scale, and Disease Activity Score-28 CRP markers at months 0, 3, and 12 of secukinumab treatment were analyzed. Alongside this, tuberculosis, MS, and CHF were evaluated at follow-up using clinical assessments and imaging methods such as chest radiographs, brain magnetic resonance, and echocardiography. Results: A statistically significant improvement in inflammatory markers and disease activity scores was observed in patients treated with secukinumab. There was no reactivation in patients with a history of tuberculosis. In most MS patients, the disease was stable, while clinical and radiological improvement was observed in one patient. No worsening of CHF stage was observed in patients with a history of CHF. Conclusions: With regular clinical monitoring, secukinumab may be an effective and safe treatment option for axSpA and PsA patients with a history of tuberculosis, MS, or CHF. Full article

Oligometastasis represents a clinically relevant state of limited metastatic disease that could be amenable to selected local therapies in carefully chosen patients. Although initial trials such as SABR-COMET demonstrated a survival benefit with aggressive local treatment, breast cancer was underrepresented. Subsequent breast cancer-specific trials, including NRG-BR002, failed to show a clear survival benefit, highlighting uncertainties and the need for further refinement in patient selection and integration with systemic approaches. The definitions of oligometastasis continue to evolve, incorporating radiological, clinical, and biological features. Advances in imaging and molecular profiling suggest that oligometastatic breast cancer might represent a distinct biological subtype, with potential biomarkers including PIK3CA mutations and YAP/TAZ expression. Organ-specific strategies using stereotactic radiotherapy, surgery, and proton therapy have shown favorable local control in certain settings, though their impact on the overall survival remains under investigation. Emerging techniques, including circulating tumor DNA (ctDNA) analysis, are being explored to improve patient selection and disease monitoring. Ongoing trials may provide further insight into the role of local therapy, particularly in hormone receptor-positive or HER2-positive subtypes. Local and systemic strategies need to be carefully coordinated to optimize the outcomes. This review summarizes the current definitions of and evidence and therapeutic considerations for oligometastatic breast cancer and outlines potential future directions. Full article

Background: Computed Tomography (CT) imaging is widely recognised for its high capability in assessing multiple organs. However, concerns about patient radiation exposure, particularly in children, pose significant challenges. Objective: This study aimed to establish diagnostic reference levels (DRLs) for paediatric patients in the most common CT examinations to monitor and better control radiation doses. Methods: Dosimetry records from 5956 patients’ scans for the four most common CT imaging examinations—Head, Chest, Abdomen Pelvis (AP), and Chest Abdomen Pelvis (CAP)—were considered. The CT dosimetric quantities (CT dose-index volume (CTDI_vol) and dose-length product (DLP)), along with patient demographics (age and weight), were collected from radiology data storage systems. DRLs for CTDI_vol and DLP were determined for each imaging examination, stratified by patient age and weight groups, in accordance with ICRP recommendations. Results: The derived DRLs are presented as [median CTDI_vol (mGy): median DLP (mGy·cm)]. For (<1 yr): Head: 13:187, Chest: 0.4:7, AP: 0.9:19, CAP: 0.4:10. For (1–5 yrs): Head: 16:276, Chest: 1:22, AP: 1.5:58, CAP: 1.6:63. For (6–10 yrs): Head: 19:332, Chest: 1.4:35, AP: 1.9:74, CAP: 2:121. For (11–15 yrs): Head: 21:391, Chest: 3:86, AP: 4.1:191, CAP: 3:165. We observed that both the CTDI_vol and DLP DRL values increase with patient age. Weight-based DRLs follow similar trends for CTDI_vol, while DLP values show noticeable variations in Chest and AP examinations. Conclusions: The study findings highlight the need for review and optimisation of certain scanning protocols, particularly for chest and AP examinations. The derived DRLs are consistent with findings from other studies. The study recommends establishing national paediatric DRLs to enhance radiology practice across the country and ensure adherence to international safety standards. Full article

Wild-growing edible mushrooms are known to bioaccumulate radionuclides from their environment, particularly the natural isotope potassium-40 (⁴⁰K) and anthropogenic cesium-137 (¹³⁷Cs). However, region-specific data for commercially relevant species in north-eastern Poland remain limited, despite the cultural and economic importance of mushroom foraging and export. This study aimed to assess the radiological safety of wild mushrooms intended for human consumption, with particular attention to regulatory compliance and potential exposure levels. In this study, 230 mushroom samples representing 19 wild edible species were analyzed using gamma spectrometry, alongside composite soil samples collected from corresponding foraging sites. The activity concentration of ¹³⁷Cs in mushrooms ranged from 0.94 to 159.0 Bq/kg fresh mass (f.m.), and that of ⁴⁰K from 64.4 to 150.2 Bq/kg f.m. None of the samples exceeded the regulatory limit of 1250 Bq/kg f.m. for ¹³⁷Cs. The highest estimated annual effective dose was 2.32 µSv from ¹³⁷Cs and 0.93 µSv from ⁴⁰K, with no exceedance of regulatory limits observed in any sample. A strong positive correlation was observed between ¹³⁷Cs activity in soil and mushroom dry mass (Spearman’s Rho = 0.81, p = 0.042), supporting predictable transfer patterns. Additionally, the implications of mushroom drying were assessed considering Council Regulation (Euratom) 2016/52, which mandates radionuclide levels in dried products be evaluated based on their reconstituted form. After such adjustment, even the most contaminated dried samples were found to comply with food safety limits. These findings confirm the radiological safety of wild mushrooms from north-eastern Poland and contribute novel data for a region with limited prior monitoring, in the context of current food safety regulations. Full article

Malignant diseases represent a major global health challenge and are among the leading causes of death worldwide. Accurate early diagnosis is essential for improving outcomes and combating these conditions effectively. Currently, the diagnosis of malignancies relies heavily on radiological imaging and pathological examinations, which are often invasive and not cost-effective. As such, there is a growing need for non-invasive and accessible methods to detect cancer in its early stages. Tumor markers—biomolecules whose levels increase in malignancy and can be measured in blood or other biological tissues and fluids—offer a promising tool. However, the sensitivity and specificity of currently available tumor markers are insufficient for early detection, limiting their use primarily to disease monitoring rather than diagnosis. While ongoing research continues to identify novel tumor markers, the development of more effective early detection strategies requires more than the discovery of new biomarkers. The continuous monitoring of patients and individuals with a high tumor risk and the personalization of tumor marker interpretation are also critical. In this review, we (i) summarize the most commonly used tumor markers, (ii) examine strategies for developing novel biomarkers, particularly through omics technologies, (iii) explore the potential of continuous monitoring using wearable biosensors for early tumor detection, and (iv) discuss approaches to personalizing tumor marker interpretation to support early diagnosis and improve treatment outcomes. Full article

Angioimmunoblastic T-cell lymphoma (AITL) is a rare and aggressive subtype of non-Hodgkin lymphoma, the monitoring of which is largely restricted to radiological methods. Diagnosis relies on identifying characteristic clinicopathological features, supported by the detection of recurrent somatic mutations in RHOA, TET2, IDH2 and DNMT3A. The characteristic molecular profile of AITL and the high levels of circulating tumour DNA (ctDNA) measurable in AITL before treatment makes this an attractive lymphoma subtype in which to further investigate the role of ctDNA monitoring. The detection of somatic mutations in pre-treatment AITL-containing tissue samples was compared to those detected in pre-treatment ctDNA samples in a cohort of 12 patients. Changes in ctDNA somatic mutation burden over time were then correlated with radiological response. All six paired pre-treatment ctDNA and tissue samples had variants in common. All (8/8) previously ctDNA-detectable IDH2 and RHOA variants were undetectable in ctDNA samples at the time of end-of-treatment complete metabolic response (CMR). In comparison, the majority of both previously ctDNA-detectable DNMT3A variants (3/4) and TET2 variants (6/11) were detectable in ctDNA samples at the time of end-of-treatment CMR. These observations suggest that IDH2/RHOA variants may be more reliable markers of measurable residual disease in AITL than DNMT3A/TET2 variants. Full article

Background and Objectives: Immune checkpoint inhibitors (ICIs) have emerged as groundbreaking agents in cancer therapy; however, their immune-related adverse effects, especially pulmonary toxicity, significantly limit their use. This study aimed to determine the incidence and risk factors associated with ICI-induced pulmonary toxicity. Materials and Methods: We conducted a prospective observational study involving 126 patients aged ≥18 years with malignancies treated with ICIs between April 2022 and April 2024. Patients were followed every six months over a two-year period. Clinical, laboratory, and radiological data were collected to assess pulmonary toxicity. Results: The mean age of our patients was 62.93 ± 12.94 years, and 81% were male. The ICI-related pulmonary toxicity rate was 16.7%, and the all-cause mortality rate was 68.3%. In the analysis, the conditions associated with pulmonary toxicity were the type of malignancy, the presence of lung cancer, COPD, long-term ICI use, dyspnea, cough and sputum, the pre-ICI lung nodule mass, and high blood monocyte levels. Our regression analysis results for the determination of risk factors showed a 7.70-fold increase in the presence of cough symptoms, a 4.57-fold increase in the presence of COPD, a 0.998-fold increase for every 1 unit decrease in lymphocyte count, and an 11.75-fold increase in risk for a monocyte count of 130 or less. Conclusions: Our study’s findings suggest that patients with identifiable risk factors for pulmonary toxicity should undergo closer monitoring and early diagnostic evaluation during ICI therapy to reduce morbidity and mortality. Full article

Introduction: Celiac disease (CD) impairs bone development in children through inflammation and nutrient malabsorption. Osteoprotegerin (OPG), a decoy receptor for RANKL, plays a role in bone remodeling and is increasingly recognized as a potential biomarker of bone metabolism and inflammation. However, its clinical significance in pediatric CD remains unclear. Aim: To evaluate the relationship between OPG levels, growth parameters, and delayed bone age in children with CD, and to assess OPG’s potential as a biomarker of bone health and disease activity. Methods: This three-year case–control study included 146 children: 25 with newly diagnosed CD (Group A), 54 with established CD on a gluten-free diet (Group B), and 67 healthy controls (Group C). Participants underwent clinical, anthropometric, and laboratory assessments at baseline and after 6 months (Groups A and B). OPG and osteocalcin were measured, and bone age was assessed radiologically. Statistical analyses included ANOVA, Spearman’s correlations, and binomial logistic regression. Results: OPG levels were highest in newly diagnosed children (Group A), showing a non-significant decrease after gluten-free diet initiation. OPG correlated negatively with age and height in CD patients and controls, and positively with hemoglobin and iron in Group B. Logistic regression revealed no significant predictive value of OPG for delayed bone age, although a trend was observed in Group B (p = 0.091). Children in long-term remission exhibited bone maturation patterns similar to healthy peers. Conclusions: OPG levels reflect disease activity and growth delay in pediatric CD but lack predictive power for delayed bone age. While OPG may serve as a secondary marker of bone turnover and inflammatory status, it is not suitable as a standalone biomarker for skeletal maturation. These findings highlight the need for integrative biomarker panels to guide bone health monitoring in children with CD. Full article

Thyroid nodules are a common clinical finding, with their prevalence influenced by multiple environmental and occupational factors, including exposure to ionizing radiation. Healthcare workers, particularly those operating in radiology, nuclear medicine, interventional cardiology, and radiation oncology, are potentially at increased risk due to chronic low-dose radiation exposure. This review aims to evaluate the current evidence regarding the association between occupational radiation exposure and the development of thyroid nodules among healthcare professionals. The findings suggest a higher prevalence of thyroid nodules in radiation-exposed workers compared to the general population, although data heterogeneity and methodological limitations exist. Factors such as the duration of exposure, radiation protection practices, and frequency of monitoring play critical roles in modulating the individual risk. While some studies report no significant difference in malignancy rates, the increased detection of nodules underlines the need for regular thyroid surveillance in at-risk populations. Further longitudinal and multicentric studies are warranted to clarify the causality and guide preventive strategies. This review highlights the importance of occupational health protocols, including radiation shielding and periodic thyroid evaluation, in safeguarding the long-term endocrine health of healthcare workers. Full article

The rapid growth of artificial intelligence, particularly in the field of deep learning, has opened up new advances in analyzing and processing large and complex datasets. Prospects and emerging trends in this area engage the development of methods, techniques, and algorithms to build autonomous systems that perform tasks with minimal human action. In medical practice, radiological imaging technologies systematically boost progress in the clinical monitoring of cancer through the information that can be analyzed in these images. This review gives insight into deep learning-based approaches that strengthen the assessment of the response to the treatment of non-small-cell lung cancer. This systematic survey delves into the various approaches to morphological and metabolic changes observed in computerized tomography (CT) and positron emission tomography (PET) imaging. We highlight the challenges and opportunities for feasible integration of deep learning computer-based tools in evaluating treatments in lung cancer patients, after which CT and PET-based strategies are contrasted. The investigated deep learning methods are organized and described as instruments for classification, clustering, and prediction, which can contribute to the design of automated and objective assessment of lung tumor responses to treatments. Full article

Background: Exophiala dermatitidis is a dematiaceous, thermotolerant, yeast-like fungus increasingly recognized as an opportunistic pathogen in chronic airway diseases. While commonly associated with cystic fibrosis, its clinical significance in non-cystic fibrosis bronchiectasis (NCFB) remains unclear. Case Presentation: We report the case of a 66-year-old immunocompetent woman with a history of breast cancer in remission and NCFB, who presented with chronic cough and dyspnea. Chest CT revealed bilateral bronchiectasis with new pseudonodular opacities. Bronchoalveolar lavage cultures identified E. dermatitidis, along with Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus. Given clinical stability and the absence of systemic signs, initial therapy included oral voriconazole, levofloxacin, doxycycline, and inhaled amikacin. Despite persistent fungal isolation on repeat bronchoscopy, the patient remained asymptomatic with stable radiologic and functional findings. Antifungal therapy was discontinued, and the patient continued under close monitoring. The patient exhibited clinical and radiological stability despite repeated fungal isolation, reinforcing the hypothesis of persistent colonization rather than active infection. Discussion: This case underscores the diagnostic challenges in distinguishing fungal colonization from true infection in structurally abnormal lungs. In NCFB, disrupted mucociliary clearance and microbial dysbiosis may facilitate fungal persistence, even in the absence of overt immunosuppression. The detection of E. dermatitidis should prompt a comprehensive evaluation, integrating clinical, radiologic, and microbiologic data to guide management. Voriconazole is currently the antifungal agent of choice, though therapeutic thresholds and duration remain undefined. Conclusions: This report highlights the potential role of E. dermatitidis as an under-recognized respiratory pathogen in NCFB and the importance of a multidisciplinary, individualized approach to diagnosis and treatment. This case underscores the need for further research on fungal colonization in NCFB and the development of evidence-based treatment guidelines. Further studies are needed to clarify the pathogenic significance, optimal management, and long-term outcomes of E. dermatitidis in non-CF chronic lung diseases. Full article