Study of Genetic Mutations and Their Association With the Development of Atopic Dermatitis and Other Skin Diseases.

The purpose of this study was to identify the heterogeneity of atopic dermatitis and to identify key genetic factors. This can lead to new approaches and personalized treatment strategies. I conducted a literature review of three scientific publication platforms (i.e., PubMed, Cochrane Library, Scopus) for records published between July 2011 and July 2023 using key words related to the genetics of atopic dermatitis. The high heritability and genetic pleiotropia of atopic dermatitis emphasize the importance of its genetic predisposition and interaction with concomitant diseases. The study also shows the role of various genes associated with immunity and inflammatory reactions, as well as the high heritability of atopic dermatitis, particularly among twins. Genetic mutations, specifically polymorphisms of genes encoding immune factors and inflammatory responses, determine an individual's predisposition to atopic dermatitis. Research findings also point to genetic aspects associated with other skin conditions such as psoriasis and vitiligo, confirming the existence of common genetic mechanisms between these diseases. Specifically, polymorphisms of the filaggrin gene have been found to be key genetic determinants of atopic dermatitis. I analyzed the genetic basis of atopic dermatitis, emphasizing the importance of genetic determinants and their interaction with the immune system and extracellular matrix. This study contributes to the understanding of the mechanisms of atopic dermatitis and opens new perspectives for individualized treatments.

Disease severity, treatment patterns, and quality of life in patients with moderate-to-severe psoriasis routinely managed with systemic treatment: results of the CRYSTAL observational study in Central and Eastern European countries.

Psoriasis is a common, life-long skin disease with a significant negative health and societal impact. Data on rates of disease control and treatment strategies are lacking in Central and Eastern European countries. We aimed to describe the real-world disease severity, control, and treatment strategies for psoriasis in patients from Central and Eastern European countries. CRYSTAL (EUPAS36459) was a cross-sectional, retrospective study in adults (18-75 years) from Bulgaria, Estonia, Hungary, Latvia, Lithuania, Romania, and Russia. We enrolled patients with moderate-to-severe psoriasis receiving continuous systemic treatment for ≥24 weeks. We used the Psoriasis Area and Severity Index (PASI) to describe disease severity and the Dermatology Life Quality Index (DLQI) to assess quality of life (QoL) and collected other outcomes [psoriasis work productivity and activity impairment (WPAI-PSO), patient satisfaction] at enrollment. Analyses were descriptive. A total of 690 patients were included in the analyses. Median disease duration was 11.8 years. Current treatment was monotherapy for most patients (95.8%) with either biological (BIO group; 88.4%) or conventional (NON-BIO group; 7.4%) agents. Mean (± standard deviation) absolute PASI scores were 3.5 ± 5.7, 3.1 ± 5.3, and 6.6 ± 7.4 in the overall population, the BIO group, and the NON-BIO group, respectively. Among patients treated with monotherapy, absolute PASI scores ≤1, ≤3, and ≤5 were observed for 44.1%, 72.0%, and 82.6% of BIO patients and 21.6%, 33.3%, and 49.0% of NON-BIO patients. Mean DLQI total score was 3.3 ± 5.1; higher scores were noted for higher absolute PASI. The most impacted WPAI-PSO domain was presenteeism; for all domains, impact increased with increased absolute PASI. A total of 91.8% of BIO patients and 74.5% of NON-BIO patients were satisfied with the current treatment. We observed a better disease control in BIO than NON-BIO patients. However, around half of BIO patients did not reach clear skin status and reported an impact on QoL. An improvement in treatment strategies is still needed in Central and Eastern European countries to optimize outcomes of moderate-to-severe psoriasis.

Use of ceftriaxone as an alternative treatment method in pregnant women diagnosed with syphilis - a single centre experience.

BACKGROUND: There are few data on the use of ceftriaxone in pregnant women diagnosed with syphilis. The aim of this study was to investigate the safety and efficacy of ceftriaxone as an alternative treatment option for syphilis during pregnancy. METHODS: A retrospective analysis of 79 pregnant women diagnosed with syphilis and treated with ceftriaxone was conducted. RESULTS: No cases of intolerance, Jarisch-Herxheimer reactions, or allergic reactions were recorded. The average time to seronegativation for secondary syphilis with symptoms was 6.14 months ± 2.76, and for latent forms, it was 7.52 months ± 1.84. Patients received no additional treatment. No serious adverse drug reactions were reported. CONCLUSIONS: Data from our study support the use of ceftriaxone as an effective and safe alternative treatment for pregnant women diagnosed with syphilis when penicillin therapy is contraindicated or unavailable.

Intravenous Immunoglobulin Therapy-Induced Erythema Multiforme in a Patient with Chronic Lymphocytic Leukemia.

This case report discusses immunoglobulin-induced erythema multiforme (EM), a rare and understudied condition that requires further investigation. The report presents the case of a 69-year-old woman with a history of chronic lymphocytic leukemia who developed an acute hypersensitivity reaction to intravenous gamma globulin medication. The patient received intravenous immunoglobulin (IVIG) to normalize and stabilize her immunoglobulin levels and reduce the risk of recurrent infections due to her immunodeficiency with predominantly antibody defects. However, after the second administration of the medication, the patient experienced an acute skin rash and was admitted to the hospital for treatment. The treatment plan included systemic desensitizing therapy, systemic antihistamine therapy, corticosteroid therapy, and local therapy. After a course of therapy, the patient's skin condition improved, and her overall well-being improved. However, due to the acute hypersensitivity reaction, the IVIG therapy was discontinued. The multidisciplinary team of specialists concluded that the patient had developed EM. The discussion provides an overview of EM, including its causes, clinical presentation, diagnostic tools, and therapy principles. The discussion also describes the use of human IVIG preparations in treating various immunodeficient and inflammatory diseases, highlighting the importance of monitoring patients for adverse effects. The case of this patient underscores the potential risks associated with immunoglobulin therapy and emphasizes the need for healthcare providers to remain vigilant for adverse reactions. By promptly diagnosing and treating EM, healthcare providers can minimize its impact on patients' overall well-being.

Ciclopirox 8% HPCH Nail Lacquer in the Treatment of Mild-to-Moderate Onychomycosis: A Randomized, Double-Blind Amorolfine Controlled Study Using a Blinded Evaluator.

This was a randomized, controlled, parallel-group clinical trial with a blinded evaluator, designed to compare the efficacy and safety of the nail lacquer P-3051 with amorolfine 5% in the treatment of mild-to-moderate toenail onychomycosis. Patients were treated for 48 weeks with P-3051 daily, or twice weekly with amorolfine 5%. Out of 120 evaluable patients, 60 (50.0%) received P-3051 and 60 (50.0%) amorolfine 5%. At baseline, the two groups were homogeneous in terms of race, pathogens, number of affected toenails and severity of the infected target nail area. The statistical superiority of P-3051 versus amorolfine was achieved after 48 weeks (treatment success: 58.3% for P-3051 vs. 26.7% for amorolfine, p < 0.001; complete cure: 35.0% for P-3051 vs. 11.7% for amorolfine, p < 0.001). Mycological cure at week 48 was achieved in all patients treated with P-3051 compared to 81.7% of patients treated with amorolfine (p < 0.001). Moreover, fungal eradication by P-3051 was statistically superior at week 24. The results of this study, and of a previous pivotal study versus the insoluble formulation of ciclopirox 8%, led to consider P-3051 as the gold standard for the topical treatment of mild-to-moderate onychomycosis.

Zinc-based fixative improves preservation of genomic DNA and proteins in histoprocessing of human tissues.

Advantageous preservation of histology and detailed cellular morphology has rendered neutral buffered formalin (NBF) the most widely used fixative in clinical pathology. Despite excellent morphology for routine diagnostics, a major drawback of NBF fixation is its detrimental effect on DNA and RNA quality. In addition to complicating analysis of genes and transcripts in complex tissues, NBF denatures proteins and thereby hampers immunohistochemical visualization of certain antigens. In the present study, we evaluated a zinc-based fixative (ZBF) regarding its effects on tissue morphology, quality of genomic DNA, and preservation of protein immunoreactivity in a broad spectrum of tissues. Four different modes of fixation were analyzed: ZBF-paraffin embedding, NBF-paraffin embedding, ZBF-fixation prior to snap-freezing, and immediate snap-freezing. Laser-assisted microdissection, allowing retrieval of a defined number of cells for PCR, was used to study DNA quality. Genomic DNA was analyzed using primers for beta2-microglobulin and the transferrin receptor. Immunohistochemistry was performed using nine antibodies. Tissue microarray blocks were used for analysis of morphology and immunoreactivity. Only slight impairment of morphologic qualities was found after ZBF-paraffin embedding, whereas ZBF prior to freezing resulted in a more crisp morphology compared with routine cryosections. A significantly higher DNA yield was observed in samples isolated from ZBF-paraffin-embedded tissues compared with NBF-paraffin-embedded tissues. Both yield and quality of DNA was comparable in frozen tissues irrespective to prior ZBF fixation. Immunoreactivity in paraffin-embedded tissue was superior in ZBF-fixated tissue compared with NBF-fixated for a majority of tested antibodies. Furthermore, for seven out of nine antibodies, antigen retrieval pretreatment proved unnecessary in ZBF-fixated tissue. Thus, despite a slight impairment of morphology, ZBF preserves protein structures well. We conclude that ZBF is superior to NBF for analysis of DNA and protein expression. Fixation of tissues in ZBF may also be an alternative strategy to freeze storage of tissue specimens, eg, in future bio-banks.