Search Results (20)

Background: The role of radioiodine (RAI) therapy for differentiated thyroid cancers (DTCs) is still a matter of debate. Low-dose RAI (LDRAI) therapy is a possible treatment for patients at low–intermediate risk of recurrence. The aim of this study was to evaluate the occurrence of post-RAI therapy clinical and biochemical side effects with respect to its dosage. Methods: We retrospectively examined 142 patients who had been administered RAI therapy for DTCs and carried out at least a 12-month follow-up. The incidence of clinical adverse events (CAEs: xerophthalmia, xerostomia, and dysgeusia) and values for hemoglobin (Hb), red blood cells (RBCs), white blood cells (WBCs) and platelets (PLTs) during the first year of follow-up were compared between patients who underwent standard-dose RAI (SDRAI) therapy and LDRAI therapy. Results: Of the 142 patients, 66 were treated with LDRAI and 76 with SDRAI. A higher incidence of CAEs was found in the SDRAI group than in the LDRAI group (p = 0.002). An administered dose above 2849 MBq was associated with CAEs (sensitivity 88.89%, specificity 54.03%, p < 0.001). We found a slight decrease in Hb (p = 0.008), RBCs (p = 0.013), WBCs (p = 0.004) and PLTs (p < 0.001) in the SDRAI group, while in the LDRAI group only WBCs showed a minimal decrease (p = 0.027) with any occurrence of overt bone-marrow disease. Conclusions: According to our data, LDRAI therapy seemed to be associated with a lower incidence of CAEs than SDRAI therapy. Both methods showed an excellent safety profile in terms of hematopoietic effects. However, the effect of SDRAI therapy in this setting might have been more positive than that of LDRAI therapy. Full article

Introduction: Micronutrient deficiencies are considered uncommon in the United States. However, children with autism spectrum disorder (ASD) are at higher risk due to food selectivity and restrictive eating patterns. The prevalence of ASD in the U.S. has quadrupled over the past two decades, amplifying the need to address nutritional gaps in this population. Objective: This narrative review examines the prevalence and clinical impact of underreported micronutrient deficiencies beyond vitamin C in children with ASD using case reports and series. Methods: Case reports and case series reporting micronutrient deficiencies in children with ASD published from 2014 to 2025 were identified through PubMed and ScienceDirect using search terms “autism and deficiency” and “autism and vitamin A, K, magnesium, iron deficiency”. Eligible cases included children aged 2–18 years with ASD and laboratory-confirmed micronutrient deficiencies. Results: A total of 44 cases from 27 articles were analyzed. Frequently reported deficiencies were vitamin D (25.0%), vitamin A (24.8%), B-vitamins (18.0%), calcium (10.8%), and iron (9.6%). Less common deficiencies included iodine, zinc, vitamin E, etc. Diseases such as xerophthalmia, rickets, pellagra, and goiter were reported. Co-occurring deficiencies were present in 70% of cases, and all cases reported food selectivity, with deficiencies occurring despite normal growth parameters in some children. Conclusions: Based on cases reviewed, children with ASD are at high risk for micronutrient deficiencies, despite meeting normal growth parameters. Further research is needed to develop a standardized nutrition assessment, but combining anthropometric, biochemical, and dietary assessments can aid in early intervention and prevent complications. Full article

Graves’ ophthalmopathy is the most common extrathyroidal manifestation of Graves–Basedow disease. Radiotherapy is effective especially when used in synergy with the administration of glucocorticoids. The aim of our study was to analyze the effectiveness and safety of radiotherapy, using different protocols, to improve ocular symptoms and quality of life. Methods: We retrospectively analyzed the clinical data of two-hundred and three patients treated with retrobulbar radiotherapy between January 2002 and June 2023. Ninety-nine patients were treated with a schedule of 10 Gy in 10 fractions and one-hundred and four were treated with 10 Gy in 5 fractions. Radiotherapy (RT) was administrated during the 12 weeks of pulse steroid therapy. Patients were evaluated with a clinical exam, orbital CT, thyroid assessment, and Clinical Activity Score (CAS). Results: The median follow-up was 28.6 months (range 12–240). Complete response was found in ninety-four pts (46.31%), partial response or stabilization in one hundred pts (49.26%), and progression in nine pts (4.43%). In most subjects, an improvement in visual acuity and a reduction in CAS of at least 2 points and proptosis by more than 3 mm were observed. Three patients needed decompressive surgery after treatment. Only G1 and G2 acute eye disorders and no cases of xerophthalmia or cataract were assessed. Conclusions: RT is an effective and well-tolerated treatment in this setting, especially when associated with the administration of glucocorticoids. Although the most used fractionation schedule in the literature is 20 Gy in 10 fractions, in our clinical practice, we have achieved comparable results with 10 Gy in 5 or 10 fractions with a lower incidence of toxicity. Full article

Background and Objectives: Human umbilical cord blood serum (HUCBS) stands out as a potent adjunct to conventional therapies for ocular surface disorders (OSDs) caused by, among many, autoimmune systemic syndromes. By expediting ocular surface regeneration and fostering epithelial integrity, HUCBS not only enhances subjective patient experiences but also improves objective clinical indicators. This makes it particularly useful in patients with corneal ulcers through ocular surface regeneration and anti-inflammatory activity. This study aims to explore the efficacy of HUCBS in patients who had previously received other treatments unsuccessfully. Materials and Methods: This study was a prospective, non-comparative, interventional case series study involving 49 patients (30 females and 19 males) aged 15–82 years with severe OSDs who were unresponsive to standard treatments. The study was conducted at the San Marco Hospital, Catania, Italy. Patients were categorized into four groups based on the etiology of their severe OSDs: Group I consisted of twenty four patients with filamentary keratitis and corneal ulcers associated with rheumatologic diseases such as Sjogren’s syndrome and systemic sclerosis; Group II comprised thirteen patients with graft-versus-host disease; Group III consisted of nine patients with corneal neurotrophic ulcers; and Group IV included three patients with Steven–Johnson syndrome. The outcomes were evaluated before and after treatment using the following assessments: OSDI (Ocular Surface Disease Index) and SANDE (Symptom Assessment in Dry Eye) questionnaires, VAS (Visual Analog Scale), Slit Lamp Examination, Esthesiometry, Lissamine Green Staining, NIBUT (Non-Invasive Break-Up Time), BUT (Break-Up Time), Fluorescein Staining with Photography and Oxford Classification, The Schirmer Test, Best-Corrected Visual Acuity (BCVA), and Meibography. Results: We observed a significant improvement in the outcomes from the SANDE, VAS, and OSDI questionnaires, The Schirmer Test, BUT, BCVA, and Oxford Classification, after treatment with UCBS. Clinical variables, such as corneal inflammation, conjunctivalization, corneal neovascularization, and pain, were also considered individually. Nevertheless, pain and inflammation reduced markedly over time until complete healing was achieved in all cases. Conclusions: Our pilot study highlights the substantial efficacy of HUCBS in patients with systemic autoimmune diseases who have shown inadequate responses to prior treatments for dry eye. This underscores the need for further comprehensive investigations in this field. Full article

Background: Some patients with Sjögren’s syndrome (SS) do not develop xerostomia despite advanced involvement of the salivary glands and the presence of focal lymphocytic sialadenitis (FLS). The aim of the study is to determine possible correlations between xerostomia, symptoms of sicca syndrome, FLS, and other features in SS patients. Methods: The study group comprised 50 patients with SS. The comprehensive assessment of patients included clinical, laboratory, and serological examinations. All patients underwent labial salivary gland biopsies. Dry mouth and dry eyes were assessed by unstimulated whole salivary flow rate (USWSF) and Schirmer’s test, respectively. Results: Xerostomia and xerophthalmia are closely related components of sicca syndrome. Xerostomia did not correlate with any serological or laboratory values, including ANA titers, SSA, SSB, Ro52 antibodies, rheumatoid factor, C-reactive protein, and Erythrocyte Sedimentation Rate. There were no correlations between xerostomia and FLS or Focus score. USWSF results correlated with xerostomia reported by patients, contrary to Schirmer’s test, which did not correlate with xerophthalmia. Conclusions: Dry mouth in SS is independent of any serological or inflammatory parameters. The occurrence of FLS does not determine xerostomia and its severity. Dry mouth in SS is influenced by other undetermined factors and mechanisms independent of salivary gland involvement. Full article

Bitot’s spots (BS) are the buildup of superficially located keratin in the conjunctiva and are early indicators of vitamin A deficiency (VAD), primarily due to malnutrition and malabsorption, thus leading to xerophthalmia. BS are particularly prevalent in developing countries, and their presence necessitates prompt vitamin A supplementation to avert blindness, with the immunohistochemical characteristics of BS aiding in understanding the extent of epithelial abnormalities and the efficacy of vitamin A supplementation. We describe the case of a 34-year-old male with persistent BS despite extensive vitamin A supplementation and topical treatments who underwent surgical excision of the BS followed by amniotic membrane transplantation, thus resulting in symptom relief and epithelialization, with no recurrence observed during follow-up. Histopathologic and immunohistochemical evaluations revealed expression of keratinization-related proteins, along with an absence of mucin-5AC-positive cells, suggesting impaired differentiation into goblet cells due to VAD. This case highlights the potential age-related disparity in the efficacy of vitamin A supplementation, emphasizing the need for early detection and a multidisciplinary approach in the management of VAD, especially in young adults. The favorable outcome of surgical intervention highlights its viability in the management of persistent BS and encourages further investigation to optimize therapeutic strategies for VAD-related ocular manifestations. Full article

Sjögren’s syndrome (SS) is a rheumatic disease characterized by sicca and extraglandular symptoms, such as interstitial lung disease and renal tubular acidosis. SS potentially affects the prognosis of patients, especially in cases of complicated extraglandular symptoms; however, only symptomatic therapies against xerophthalmia and xerostomia are currently included in the practice guidelines as recommended therapies for SS. Considering that SS is presumed to be a multifactorial entity caused by genetic and environmental factors, a multidisciplinary approach is necessary to clarify the whole picture of its pathogenesis and to develop disease-specific therapies for SS. This review discusses past achievements and future prospects for pursuing the pathophysiology and therapeutic targets for SS, especially from the perspectives of viral infections, toll-like receptors (TLRs), long-noncoding RNAs (lncRNAs), and related signals. Based on the emerging roles of viral infections, TLRs, long-noncoding RNAs and related signals, antiviral therapy, hydroxychloroquine, and vitamin D may lower the risk of or mitigate SS. Janus-kinase (JAK) inhibitors are also potential novel therapeutic options for several rheumatic diseases involving the JAK-signal transducer and activator of transcription pathways, which are yet to be ascertained in a randomized controlled study targeting SS. Full article

Sjögren’s Disease (SjD) is a chronic autoimmune disorder that affects the salivary and lacrimal glands, leading to xerostomia and xerophthalmia. Ultrasonography of Major Salivary Glands (SGUS) is a well-established tool for the identification of the salivary glands’ abnormalities in SjD. Recently, a growing interest has arisen in the assessment of the other exocrine glands with ultrasonography: lacrimal glands (LGUS) and labial salivary glands (LSGUS). The objective of this study is to explore the practical applications of ultra-high frequency ultrasound (UHFUS) in the assessment of lacrimal glands and labial salivary glands. Indeed, UHFUS, with its improved spatial resolution compared to conventional ultrasonography, allows for the evaluation of microscopic structures and has been successfully applied in various medical fields. In lacrimal glands, conventional high-frequency ultrasound (HFUS) can detect characteristic inflammatory changes, atrophic alterations, blood flow patterns, and neoplastic lesions associated with SjD. However, sometimes it is challenging to identify lacrimal glands characteristics, thus making UHFUS a promising tool. Regarding labial salivary glands, limited research is available with conventional HFUS, but UHFUS proves to be a good tool to evaluate glandular inhomogeneity and to guide labial salivary glands biopsy. The comprehensive understanding of organ involvement facilitated by UHFUS may significantly improve the management of SjD patients. Full article

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the TP63 gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We present here a typical AEC case of a four-year-old girl with extensive skin erosions and erythroderma of the scalp and the trunk, and to a lesser extent of the limbs, nail dystrophy on the fingers and toes, xerophthalmia, a high-arched palate, oligodontia, and hypohidrosis. Mutation analysis of the TP63 gene detected a de novo missense mutation in exon 14 (c.1799G>T; p.Gly600Val). We discuss the phenotype–genotype correlation by presenting the clinical features of AEC in the patient, and the effect of the detected mutation in p63 structure and function using protein structural modeling, in view of similar cases in the literature. We performed a molecular modeling study in order to link the effect on the protein structure level of the missense mutation G600V. We noted that the introduction of the bulkier Valine residue in place of the slim Glycine residue caused a significantly altered 3D conformational arrangement of that protein region, pushing away the adjacent antiparallel α helix. We propose that the introduced locally altered structure of the G600V mutant p63 has a significant functional effect on specific protein–protein interactions, thus affecting the clinical phenotype. Full article

Primary Sjögren’s Syndrome (pSS) is a systemic autoimmune disease that primarily attacks the lacrimal and salivary glands, resulting in impaired secretory function characterized by xerostomia and xerophthalmia. Patients with pSS have been shown to have impaired salivary gland innervation and altered circulating levels of neuropeptides thought to be a cause of decreased salivation, including substance P (SP). Using Western blot analysis and immunofluorescence studies, we examined the expression levels of SP and its preferred G protein-coupled TK Receptor 1 (NK1R) and apoptosis markers in biopsies of the minor salivary gland (MSG) from pSS patients compared with patients with idiopathic sicca syndrome. We confirmed a quantitative decrease in the amount of SP in the MSG of pSS patients and demonstrated a significant increase in NK1R levels compared with sicca subjects, indicating the involvement of SP fibers and NK1R in the impaired salivary secretion observed in pSS patients. Moreover, the increase in apoptosis (PARP-1 cleavage) in pSS patients was shown to be related to JNK phosphorylation. Since there is no satisfactory therapy for the treatment of secretory hypofunction in pSS patients, the SP pathway may be a new potential diagnostic tool or therapeutic target. Full article

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is reported to induce and augment autoimmune processes. Moreover, postinfectious effects of coronavirus disease 2019 (COVID-19) are still poorly understood and often resemble symptoms of the acute infection phase. A patient with swollen extremities was presented to the Department of Angiology at the Medical University of Vienna with complaints of muscle and joint pain, paresthesia, and arterial hypertension with intense headache. Prior to these complaints, she had been suffering from various symptoms since November 2020, following a SARS-CoV-2 infection in the same month. These included recurrent sore throat, heartburn, dizziness, and headache. Paresthesia and muscle and joint pain started in temporal relation to a human papillomavirus (HPV) vaccination. Since the patient was suffering from severe pain, intensive pain management was performed. Skin and nerve biopsies revealed autoimmune small fiber neuropathy. The patient’s condition could be related to COVID-19, as her first symptoms began in temporal relation to the SARS-CoV-2 infection. Furthermore, in the disease course, antinuclear (ANA) and anti-Ro antibodies, as well as anti-cyclic citrullinated peptide (anti-CCP) antibodies, could be detected. Together with the symptoms of xerophthalmia and pharyngeal dryness, primary Sjögren’s syndrome was diagnosed. In conclusion, though biopsy results could not distinguish a cause of the disease, SARS-CoV-2 infection can be discussed as a likely trigger for the patient’s autoimmune reactions. Full article

Vitamin A (VA) is critical for many biological processes, including embryonic development, hormone production and function, the maintenance and modulation of immunity, and the homeostasis of epithelium and mucosa. Specifically, VA affects cell integrity, cytokine production, innate immune cell activation, antigen presentation, and lymphocyte trafficking to mucosal surfaces. VA also has been reported to influence the gut microbiota composition and diversity. Consequently, VA deficiency (VAD) results in the imbalanced production of inflammatory and immunomodulatory cytokines, intestinal inflammation, weakened mucosal barrier functions, reduced reactive oxygen species (ROS) and disruption of the gut microbiome. Although VAD is primarily known to cause xerophthalmia, its role in the impairment of anti-infectious defense mechanisms is less defined. Infectious diseases lead to temporary anorexia and lower dietary intake; furthermore, they adversely affect VA status by interfering with VA absorption, utilization and excretion. Thus, there is a tri-directional relationship between VAD, immune response and infections, as VAD affects immune response and predisposes the host to infection, and infection decreases the intestinal absorption of the VA, thereby contributing to secondary VAD development. This has been demonstrated using nutritional and clinical studies, radiotracer studies and knockout animal models. An in-depth understanding of the relationship between VAD, immune response, gut microbiota and infections is critical for optimizing vaccine efficacy and the development of effective immunization programs for countries with high prevalence of VAD. Therefore, in this review, we have comprehensively summarized the existing knowledge regarding VAD impacts on immune responses to infections and post vaccination. We have detailed pathological conditions associated with clinical and subclinical VAD, gut microbiome adaptation to VAD and VAD effects on the immune responses to infection and vaccines. Full article

Psoriasis is chronic autoimmune disease that affects 2–5% of the global population. Fluocinolone acetonide (FLU) and acitretin (ACT) are widely used antipsoriatic drugs that belong to BCS classes II and IV, respectively. FLU exhibits side effects, such as skin irritation and a burning sensation. ACT also shows adverse effects, such as gingivitis, teratogenic effects and xerophthalmia. In the present study, topical nanostructured lipid carriers (NLCs) were fabricated to reduce the side effects and enhance the therapeutic efficacy. FLU–ACT-coloaded NLCs were prepared by the modified microemulsion method and optimized by the Box–Behnken model of Design Expert^® version 12. The optimization was based on the particle size (PS), zeta potential (ZP) and percentage of encapsulation efficiency (%EE). The physicochemical analyses were performed by TEM, FTIR, XRD and DSC to assess the morphology, chemical interactions between excipients, crystallinity and thermal behavior of the optimized FLU–ACT-coloaded NLCs. The FLU–ACT-coloaded NLCs were successfully loaded into gel and characterized appropriately. The dialysis bag method and Franz diffusion cells were used for the in vitro release and ex vivo permeation studies, respectively. The optimized FLU–ACT-coloaded NLCs had the desired particle size of 288.2 ± 2.3 nm, ZP of −34.2 ± 1.0 mV and %EE values of 81.6 ± 1.1% for ACT and 75 ± 1.3% for FLU. The TEM results confirmed the spherical morphology, while the FTIR results showed the absence of chemical interactions of any type among the ingredients of the FLU–ACT-coloaded NLCs. The XRD and DSC analyses confirmed the amorphous nature and thermal behavior. The in vitro study showed the sustained release of the FLU and ACT from the optimized FLU–ACT-coloaded NLCs and FLU–ACT-coloaded NLC gel compared with the FLU–ACT suspension and conventional gel. The ex vivo study confirmed the minimal permeation of both drugs from the FLU–ACT-coloaded NLC gel. Full article

Sjögren’s syndrome is one of the most prevalent autoimmune diseases after rheumatoid arthritis, with a preference for middle age, and is characterised by exocrine glandular involvement leading to xerostomia and xerophthalmia. It can have systemic implications with vascular, neurological, renal, and pulmonary involvement, and in some cases, it may evolve to non-Hodgkin’s lymphoma. For a long time, B- and T-lymphocytes have been the focus of research and have been considered key players in Sjögren’s syndrome pathogenesis and evolution. With the development of new technologies, including omics, more insights have been found on the different signalling pathways that lead to inflammation and activation of the immune system. New evidence indicates that a third actor linking innate and adaptive immunity plays a leading role in the Sjögren’s syndrome play: the monocyte. This review summarises the recent insights from transcriptomic, proteomic, and epigenetic studies that help us to understand more about the Sjögren’s syndrome pathophysiology and redefine the involvement of monocytes in this disease. Full article

Capillary electrophoresis (CE) is a versatile analytical separation method in the field of biochemistry. Although it has been proved that the relative molecular mass (M_r) of the polymers determines the threshold concentration of the entangled polymer solution, which will affect the separation performance of DNA molecules, there is still no report on the effect of M_r on the separation performance of proteins. Herein, we have thoroughly performed the CE of proteins ranged from 14.3 kDa to 116 kDa in a mixed hydroxyethyl cellulose (HEC) solution. The mixed solution was obtained with various M_r including 90,000, 250,000, 720,000, and 1,300,000. Then, we found that the mixed polymer provided a high resolution for small protein molecules while increasing the efficiency of large ones. Results demonstrated that the migration time decreased if HEC (1,300,000) was mixed with the lower M_r one, and the mixed solution (1,300,000/250,000) offered the highest resolution. The resolution was negatively correlated with the electric field strength. Finally, we have employed the optimal electrophoretic conditions to separate proteins in human tears, and it showed that lysozyme, lipocalin, and lactoferrin from human tears were successfully resolved in the mixed HEC. Such work indicates that CE has the potential to be developed as a tool for the diagnosis of xerophthalmia, meibomian gland dysfunction, or other eye diseases. Full article