Search Results (1,418)

Background: Pediatric patients with beta-thalassemia (BT) face unique immunologic challenges due to chronic transfusions and viral exposure. Hepatitis C virus (HCV), a common infection in polytransfused individuals, may influence immune polarization. However, the combined effect of chronic HCV and host immunogenetics on allergic sensitization remains incompletely understood. Objective: To assess total serum IgE levels and allergic manifestations in HCV-positive vs. HCV-negative BT patients, and explore associations with common polymorphisms in IL10, TLR7, IL4, and IFNG genes Methods: This cross-sectional observational study enrolled 46 BT patients (37 HCV-positive, 9 HCV-negative) and 50 healthy controls. Clinical allergy history, total IgE levels (ELISA), and skin prick tests (SPT) for aeroallergens were collected. Genotyping for IL10 −1082, TLR7 rs179008, IL4 −589, and IFNG +874 polymorphisms was performed. Associations between genotypes, HCV status, and IgE levels were analyzed descriptively due to small sample size Results: HCV-positive BT patients had lower mean IgE levels (18.73 ± 4.2 IU/mL) and fewer reported allergic symptoms (21.6%) compared to HCV-negative counterparts (118.76 ± 7.9 IU/mL; 55.5%). The IL10 −1082 AA and TLR7 rs179008 TT genotypes were more common in the HCV-positive group and were associated with lower IgE levels. No associations were noted for IL4 or IFNG variants. Splenectomy appeared to further modify IgE levels in HCV-negative patients. Due to limited power and absence of multivariate analysis, findings are exploratory. These preliminary observations may inform future studies of immune deviation in chronically infected pediatric cohorts. Conclusions: Chronic HCV infection may contribute to immune tolerance and reduced allergic expression in BT patients, potentially modulated by IL10 and TLR7 genotypes. Further studies with functional immune profiling and larger cohorts are required. Full article

Background: Lipedema is a progressive adipofascial disorder marked by painful nodular fat deposition that is often mistaken for obesity. While tumescent liposuction reduces limb volume with relative lymphatic safety, persistent large, painful lobules frequently remain, and excisional strategies risk iatrogenic lymphatic injury. We evaluated the application of intraoperative indocyanine green (ICG) lymphography to identify and preserve lymphatic channels during debulking surgery for symptomatic lipedema. Methods: We conducted a single-center case series (University of Pittsburgh Medical Center, July 2023–December 2024) of adults with lipedema refractory to conservative therapy who underwent a selective dermato-lipectomy (lobule/skin excision) with or without tumescent liposuction. Patients with clinical lymphedema or dermal backflow in ICG were excluded. Near-infrared ICG (SPY-PHI) was used for pre-incision mapping and real-time intraoperative guidance; lymphatic trajectories were marked and spared during lobule excision. Primary measures included dermal backflow patterns and lymph node transit time; secondary outcomes were complications and symptom burden (Lymphedema Life Impact Scale, LLIS) through ≥24 months. Results: Eight patients (five female/three male; mean age 49.5 ± 14.4 years; median BMI 52.65 kg/m²) underwent ICG-guided surgery. Preoperatively, linear lymphatic patterns were visualized up to the knee in all patients, but dermal backflow patterns could not be visualized in 83% from the level of the knee to the groin. Still, 67% demonstrated inguinal nodal uptake (mean transit 24 min), suggesting preserved lymphatic transport. All cases achieved intraoperative confirmation of intact lymphatic flow after debulking. The mean liposuction aspirate was 925 ± 250 mL per lower extremity; the mean excision mass was 2209 ± 757 g per lower extremity. Complications included two superficial cellulitis events (25%) and one wound dehiscence (12.5%); no hematomas or skin necrosis occurred. No patient developed clinical or imaging evidence of iatrogenic lymphedema during follow-up. Conclusions: Intraoperative ICG lymphography is a practical adjunct for lymphatic-sparing debulking of symptomatic lipedema, enabling real-time identification and preservation of superficial collectors while addressing focal lobules. This hybrid approach—targeted tumescent liposuction followed by ICG-guided superficial dermato-lipectomy—was associated with meaningful symptom improvement and a low morbidity in this early series. Full article

Background: Switching stable liver transplant (LT) recipients from twice-daily immediate-release tacrolimus (IR-Tac) to once-daily MeltDose^® extended-release tacrolimus (LCPT) has been proven safe and well tolerated. Moreover, the switch has been associated with enhanced treatment adherence, improvement of tremors, and preserved renal function. Here, we hypothesized that switching to LCPT early after LT may enhance long-term patient outcomes significantly. Methods: This single-center, observational study investigated the long-term safety of LCPT in a large cohort of LT recipients (n = 100). Allograft function, emerging adverse events, the incidence of rejection reactions, renal function, lipid and glucose metabolism, and treatment adherence were assessed over 24 months. Results: In 56% of patients, the switch was conducted within 4 weeks post-transplantation. Adverse events occurred in 90% of patients during the 24-month follow-up, including gastrointestinal complications (28%), neurological symptoms (28%), skin disorders (26%), metabolic disorders (22%), and fatigue (18%). Seven patients (7%) developed renal insufficiency, and five patients (5%) developed renal failure. Three episodes of chronic graft rejection reactions (3%) and a single transplant failure (1%) were observed over 24 months. LCPT was discontinued in 10 patients. Liver and renal function markers, blood lipids (cholesterol and triglycerides), and glucose levels remained stable over the 24-month follow-up. However, 58% of LT recipients had one of their liver function markers elevated at baseline (i.e., before the switch), 28% had low glomerular filtration rate (GFR < 60 mL/min/1.73 m²), and 18% had high serum creatinine (>1.3 mg/dL). In these subgroups, the early switch to LCPT was associated with a significant decrease in liver enzymes (p < 0.001 for alanine transaminase; p = 0.032 for gamma-glutamyl transferase; and p < 0.001 for total bilirubin) and a significant decrease in serum creatinine levels (p < 0.001). Self-reported treatment adherence was good and consistent throughout the study. Conclusions: The early switch from IR-Tac to LCPT was safe and effective in our cohort and may be particularly beneficial for patients with suboptimal liver and renal function following LT. Full article

Background: Endoscopic Electroporation (EE) is an innovative minimally invasive therapy that utilises short electrical pulses combined with intratumoural (IT) calcium or IT/intravenous (IV) chemotherapy to induce tumour cell death in colorectal cancer (CRC). Based on electrochemotherapy protocols developed for the treatment of skin cancers, EE has shown promising results in salvage therapy, local tumour control, and symptom palliation, particularly in patients who are unsuitable for surgery or standard treatments. Objective: To establish, for the first time, a comprehensive and standardised protocol for setting up a Salvage Endoscopic Electroporation (SEE) service in CRC clinical practice, covering multidisciplinary patient selection, procedural steps, equipment needs, and follow-up care. Methods: Drawing from the European Standard Operating Procedures of Electrochemotherapy (ESOPE) and emerging clinical evidence on EE from King’s College London, we detail infrastructure, treatment delivery, and monitoring for CRC. Key procedural elements, safety considerations, and patient management strategies are outlined. Electroporation pulses were delivered using the Conformité Européenne (CE) approved ePORE^® electroporation generator and single-use CE-marked EndoVE^® probe (Mirai Medical, Galway, Ireland). Results: Tumour assessment involves both clinical evaluation and endoscopic imaging, with radiological correlation. EE treatment has been safely carried out under sedation using specialised endoscopic probes, leading to effective local tumour response, symptomatic relief, and improved quality of life. Follow-up schedules allow for timely assessment of treatment response and enable repeat treatments if needed. Conclusions: This novel protocol provides a practical framework for centres aiming to implement SEE services, promoting consistency, safety, and better patient outcomes. Future prospective studies will refine indications and improve integration of this approach into colorectal cancer management pathways. Full article

Alopecia areata (AA) is a complex disease with a multifactorial etiology, in which autoimmune mechanisms play a central role. Increasing evidence suggests that AA may be a systemic condition, potentially affecting organs beyond the skin due to shared pathogenic pathways. One proposed mechanism is the breakdown of immune privilege, a protective state that limits immune activity in specific tissues, such as the hair follicle and the eye. Although research on the relationship between AA and ophthalmic comorbidities remains limited, several studies have reported recurrent ocular abnormalities, whether subclinical or symptomatic, appearing at younger ages than typically observed in the general population. This review aims to summarize current knowledge on the association between AA and ocular involvement, exploring shared pathogenic mechanisms, clinical eye manifestations, and practical considerations for addressing ocular symptoms in dermatological practice. Full article

Background: A focused anamnesis of symptoms is essential in medical practice, especially in oncology, where new or increasing symptoms often indicate disease progression or therapy side effects. However, there are only a few studies in dermato-oncology that address the question of how symptoms should ideally be recorded. There are no validated questionnaires specifically tailored to the needs of dermato-oncology. Patients and Methods: Over a one-year period, all patients at the skin cancer centre were given a standardised questionnaire to record relevant symptoms before consultation. This was followed by the attending dermato-oncologist completing an additional section regarding therapeutic measures based on the reported symptoms. Results: 809 patients with 1879 consultations were included. In most patient contacts, patients did not report an increase in symptoms (n = 840; 44.7%). Fatigue, restlessness/anxiety, pruritus, and pain were the most recorded distressing symptoms. The chi-square test revealed that increased symptoms led to significantly more frequent interventions. Overall, symptom relief was observed at follow-up. Analysis using Generalised Estimating Equations showed patients benefited significantly from interventions for sleep disorders. Subgroup analysis showed that patients in ongoing therapy benefitted significantly from interventions for pain and nausea. Those in advanced disease stages benefitted significantly from interventions for pain. In those groups, if symptoms were explicitly stated as having worsened using the questionnaire, measures taken by physicians also showed significant benefit for obstipation and nausea along with pruritus. Conclusions: Targeted symptom screening is feasible and provides valuable insights for guiding diagnostic or therapeutic interventions. However, the questionnaire is most useful at higher tumour stages, as it is only effective when distressing symptoms are present. Full article

Background and Objectives: Atopic dermatitis (AD) is a chronic inflammatory skin disorder primarily affecting children, driven by genetic, immunologic, and environmental factors. Emerging evidence links gut microbiota alterations to immune modulation and AD severity. Probiotics, live microorganisms providing health benefits when consumed in adequate amounts, have been proposed as a potential adjunctive therapy. This review evaluates the efficacy of various probiotic treatments in reducing SCORAD indices and symptoms in children with AD, and its effects on immunologic markers such as IgE. Materials and Methods: Through a systematic literature review of multiple electronic databases through 9 October 2024, we identified randomized controlled trials (RCTs) in pediatric patients with an established diagnosis of atopic dermatitis. Our search strategy was as follows: “((atopy) OR (dermatitis) OR (hypersensitivity)) AND pediatric AND probiotic” yielding 25 total studies. Patients were treated with either a probiotic regimen or placebo and assessed for levels of IgE and SCORAD indices. Results: Of 25 studies extracted, 14 RCTs evaluated the effects of probiotics on atopic dermatitis using SCORAD scores. Eleven showed significant reductions in SCORAD indices. Pooled analysis using a random-effects model (Hedges’ g ≈ 0.65, p < 0.05) indicated a moderate to large improvement in AD severity with probiotic therapy. However, heterogeneity in probiotic strains, intervention duration, and limited sample sizes are limitations that warrant further investigation. Secondary analysis of IgE changes showed a non-significant effect (g ≈ 0.15, p = 0.13), possibly due to short study durations (mean 12 weeks). Conclusions: Probiotics demonstrate a moderate to large clinical impact in reducing SCORAD indices among children with atopic dermatitis. These findings highlight their potential as a future adjunctive, non-pharmaceutical therapy for the roughly 9.6 million pediatric patients affected in the United States. Further studies are needed to clarify strain-specific effects and patient factors influencing response. Full article

Atopic dermatitis (AD) is a chronic inflammatory skin disorder characterized by dysregulated immunity, skin barrier dysfunction, and cutaneous microbiome dysbiosis. While current therapies face limitations, Thuja sutchuenensis essential oil (TEO) shows promise due to its multi-target potential. We sought to explore the beneficial effects of TEO and delve into its mechanistic actions in a mouse model of AD. We combined network pharmacology with in vivo validation to evaluate the therapeutic efficacy and mechanisms of TEO in an AD model, and confirmed network-predicted targets in an in vitro inflammatory cell model. In AD mice, TEO alleviated pruritus and epidermal hyperplasia, suppressed systemic IL-4/TNF-α and IgE, and partially normalized serum ALB, LDL-C, and HDL-C. Microbial diversity increased after treatment, although potentially pathogenic taxa (Arthrobacter sp. and Corynebacterium mastitidis) remained enriched. Machine-learning analysis indicated the highest predicted metabolic activity in CK controls, whereas the AD and TEO groups showed elevated pathogenic phenotype scores. Network pharmacology prioritized active compounds [(E)-ligustilide, senkyunolide A, 3-butylisobenzofuran-1(3H)-one, butylated hydroxytoluene, Z-buthlidenephthalide, and β-Myrcene] and core targets (TNF, PTPRC, CCR5, JAK1), implicating T-cell receptor signaling, Staphylococcus aureus infection, and STAT3 pathways. Docking and molecular dynamics supported strong, stable binding of major constituents to JAK1, and Western blotting confirmed TEO-mediated inhibition of the JAK1/STAT3 axis. TEO effectively alleviates atopic dermatitis symptoms by modulating immune responses and enhancing microbial diversity. It targets key signaling pathways, such as JAK1/STAT3, highlighting its potential as a therapeutic option for AD. Full article

Background/Objectives: Cow’s milk allergy (CMA) manifests with various clinical syndromes and has a wide range of symptoms in infants. This study aims to investigate the prevalence, clinical presentation, and outcome of clinical types and subtypes of CMA diagnosed in children within the first 12 months of life. Methods: Children with a CMA diagnosis were included in this mixed retrospective and prospective cohort study and were followed up for four years. Data recorded included clinical manifestations, feeding modes, and outcomes. Follow-up included oral cow’s milk (CM) challenge and/or elimination—reintroduction of CM, provided there was parental consent. Also, skin prick test and serum CM-specific IgE were assessed when needed. Results: A total of 93 infants (age: 3 days to 24 months) diagnosed with CMA were included. Prevalence was 28% for IgE-mediated CMA and 72%, 49.5%, 18.3%, and 3.7% for non-IgE-mediated CMA and its subtypes, Allergic Proctocolitis (AP), Food Protein induced Enteropathy (FPE), and Food Protein Induced Enterocolitis Syndrome (FPIES), respectively. Main manifestations were gastrointestinal (74%), skin rash (31%), failure to thrive (11.8%), feeding aversion (15.1%), respiratory symptoms (5.4%), and irritability/restlessness (9.7%). Follow-up revealed a high rate of AP and FPE tolerance within the first year, while FPIES and IgE-mediated CMA achieved tolerance at an older age. Conclusions: Our study demonstrated the predominance of AP and increased incidence of gastrointestinal involvement. Outcome was good for AP and FPE but less favorable for FPIES and IgE-mediated CMA. Our results, combined with published data, could increase our understanding of CMA-associated syndromes in infants and contribute to the guidance of effective management. Full article

Radiation therapy is one of the methods of cancer treatment, using ionizing radiation, which can lead to many negative skin changes. Therefore, its proper care is critical. This provided the impetus for an attempt to assess oncology patients’ knowledge of skin care during and after radiation therapy treatment. Methods: An anonymous and voluntary questionnaire survey was conducted among 100 patients during and after radiotherapy treatment at the Bohaterów Radomskiego Czerwca 76 Radom Oncology Center in Poland. The chi-square independence test was used to examine the independence of certain features. In case it was not possible to verify the hypothesis of the independence of features without the Yates correction, the chi-square independence test, with this correction, was used. Results: Fifty-three men and 47 women were included in the study, with prostate cancer (39%) and breast cancer (35%) being the most common, respectively. Most of the respondents were aged 56+. 67% of respondents indicated having negative skin lesions during or after radiation therapy treatment, which occurred most often in the areas of the head and neck (32%), chest (10%), and upper extremities (9%). 57% of respondents did not visit medical personnel or a cosmetologist for skin care. In contrast, 24% indicated a belief in a high level of knowledge about skin care during and after radiation therapy treatment. Conclusions: Analysis of the obtained results may lead to further development of certain issues in medicine. They are, among others, the need to increase awareness of society that has contact with oncological therapy on various actions which impact the maintenance of good skin condition, improvement of its appearance, and alleviation of symptoms which appear during or after radiotherapy. Full article

Rare diseases are conditions that affect up to 65 people per 100,000 individuals. They are also known as “orphan diseases”, because they attract limited interest from researchers and pharmaceutical industries. Epidermolysis bullosa (EB), ichthyosis, Hailey–Hailey disease (HHD), Darier disease (DD), erythrokeratoderma, porokeratosis, inflammatory linear verrucous epidermal nevus (ILVEN) and piebaldism are examples of rare genetic skin diseases with few approved treatments. Topical treatments are the principal approach for rare dermatological diseases, and it can be useful to manage the symptoms or the patophysiology of these diseases. This study aimed to conduct a comprehensive review of the topical treatments of EB, ichthyosis, HHD, DD, erythrokeratodermias, porokeratosis, ILVEN, and piebaldism. The search was performed across the SciELO, MEDLINE^®/PubMed^®, Embase and Cochrane databases. This review identified porokeratosis, EB, and congenital ichthyosis as the rare genodermatoses with the highest number of reported studies and topical treatment options. In contrast, conditions such as piebaldism, erythrokeratodermia, and HHD have fewer reported topical interventions. For most rare genetic dermatological diseases, treatment aims to improve quality of life and control clinical signals and symptoms. Creams, gels, and ointments are frequently used as the main pharmaceutical approaches, and several pharmacological classes are employed, including keratolytics, retinoids, vitamin D analogs, topical corticosteroids, calcineurin inhibitors, and cytotoxic or antiproliferative agents. This review highlights the potential of off-label use of topical therapies as cost-effective alternatives in the treatment of rare genetic skin disorders. It also reinforces the critical role of compounded medicines in allowing for dose optimization, drug repurposing, and formulation adjustments, personalizing treatment to achieve improved therapeutic outcomes. Full article

With growing concerns over the safety of synthetic substances, the development of plant-derived alternatives with minimal adverse effects has gained significant attention. Carica papaya L. peel contains a rich profile of bioactive compounds, including papain, flavonoids, and vitamin C, which exhibit potent antioxidant and anti-inflammatory properties. This study aimed to evaluate the effects of an ethanol extract of C. papaya peel (EECP) on inflammation and skin barrier dysfunction in a mouse model of contact dermatitis (CD) induced by 1-fluoro-2,4-dinitrofluorobenzene (DNFB). Mice were treated by applying EECP at three different levels (60, 80, and 600 μg) to dorsal skin for six days. Skin lesion severity, skin color, skin barrier function (SBF, as indicated by water content and water-holding capacity (WHC)), histopathological abnormalities, cytokine levels, filaggrin and Intercellular Adhesion Molecule-1 (ICAM-1) expression, and phosphorylation of MAPK (Mitogen-Activated Protein Kinase) signaling molecules were assessed. EECP treatment significantly alleviated the CD-associated dermal symptoms induced by DNFB, including skin fissures, scabbing, roughness, changes in color, water content, and WHC, as well as petechiae. EECP also prevented histopathological abnormalities such as epidermal hyperplasia, spongiotic changes, and immune cell infiltration. In addition, EECP suppressed the production of pro-inflammatory cytokines, viz. TNF-α, IFN-γ, IL-6, and MCP-1. In addition, EECP restored filaggrin expression and inhibited ERK (Extracellular signal-regulated kinases) phosphorylation and ICAM-1 expression in HaCaT cells. In summary, C. papaya peel demonstrated therapeutic potential by effectively suppressing inflammation and restoring SBF. These findings support the potential use of EECP as a safe and effective botanical candidate for the treatment of CD and the promotion of overall skin health Full article

Background: The severity of postnatal symptoms in patients with spina bifida aperta (SBA) is also determined by secondary factors that damage the exposed neural tissue throughout gestation. The purpose of this report is to present clinical cases, from 2010 to 2025, and a new hypothesis for a nonsurgical means of prenatal secondary prophylaxis. Patients: Eight fetuses underwent minimally invasive fetoscopic patch closure of SBA. After delivery, an unusual degree of prenatal patch healing was observed. Furthermore, time to complete postnatal skin closure was shorter (mean ± SD: 22.00 ± 6.53 days) than in 31 contemporary patients without dietary restrictions (Mean ± SD: 44.35 ± 11.91 days; p < 0.001). Four of the eight prenatally operated women reported that they ate plant-based food most of the time but also some meat throughout gestation; the other four were strict vegetarians. Two other fetuses with SBA at the level of the second and third lumbar vertebrae, respectively, had not undergone prenatal surgery. Following delivery, they presented with a markedly preserved surface of the neural cord and exhibited L5 motor function. One mother of the postnatally operated patients was on a vegetarian diet; the other one on a vegan diet. Conclusions: These early clinical observations point to the possibility that maternal plant-based diets might ameliorate the loss of neurological function and facilitate wound healing in human fetuses with SBA. If this impact of maternal dietary habits holds true, it opens the door to a far-reaching, easily available, non-invasive secondary prophylaxis in prenatally operated and unoperated fetuses with SBA and some other malformations. Full article

Severely burned patients are at high risk of local and systemic infections due to skin barrier loss. Their clinical management is complex and requires coordinated intensive care and infection prevention strategies. Diagnosing infective endocarditis (IE) in this population is particularly difficult due to overlapping symptoms and limited diagnostic specificity. Common pathogens include Staphylococcus aureus, Pseudomonas aeruginosa, and Acinetobacter baumannii. We conducted a retrospective cohort study on 543 patients with burns affecting >18% of total body surface area (TBSA), admitted to our Burn Intensive Care Unit (BICU) from 2019 to 2024. The incidence of infective endocarditis was 1.47%, involving aortic (75%), mitral (12.5%), and tricuspid (12.5%) valves. Pathogens identified included S. aureus, Klebsiella pneumoniae, A. baumannii, and P. aeruginosa. This incidence is significantly higher than that in the general population. Mortality reached 50%, with an overall 3-month mortality of 75%. The literature on IE in burn patients is scarce, and the role of antibiotic prophylaxis remains controversial. Infective endocarditis in burn patients, although rare, represents a severe complication with high mortality. Early diagnosis and coordinated multidisciplinary care are essential to improve patient outcomes. Full article

Furosemide appears to contribute to the accumulation of protein-bound uremic toxins (PBUTs) and to induce adverse drug reactions. We investigated the extent to which the association between the furosemide dose and serum PBUT concentrations mediates the relationship between the furosemide dose and the symptom burden in patients with chronic kidney disease (CKD). This cross-sectional analysis included patients with CKD stages 2 to 5 from the CKD-REIN cohort and with data on the baseline serum concentrations of the free fractions of indoxyl sulphate (IS), kynurenine (KYN), p-cresyl sulphate (PCS), and indole-3-acetic acid (IAA), as measured by liquid chromatography–tandem mass spectrometry. The symptom burden was also assessed with a modified (8-item) symptom subscale from the Kidney Disease Quality of Life-36 (e.g., muscle soreness, cramps, itchy skin, dry skin, dizziness, appetite, numbness, and nausea). We used beta regressions to model the association between the furosemide dose and the symptom burden and used structural equation models to quantify the mediating effect of PBUT on this association. Among the 2053 included patients (males: 66%, median age: 68; mean estimated glomerular filtration rate: 35 mL/min/1.73 m²), those prescribed high-dose furosemide (>120 mg/day) had higher symptom burden than those not prescribed furosemide (i.e., a 5.67-point lower symptom score, 95%CI 1.41–9.93). The sum of PBUTs explained 3.78% (95%CI 0.10–18.01%) of this association. Similar results were observed for IS, KYN, and IAA, considered separately, but not for PCS, whose estimated mediation effect was nearly null. Although high-dose furosemide was associated with a greater symptom burden in patients with CKD, mediation by PBUT accumulation appeared to be minimal. Full article