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1.
J Clin Med ; 13(15)2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39124644

RESUMEN

Background: Non-melanocytic benign skin tumours encompass a diverse group of lesions, classified based on their cellular origin, such as epidermal, vascular, fibrous, neural, muscle, and adnexal tumours. Though they often reveal solitary lesions, multiple skin tumours focus on genodermatoses. Each syndrome exhibits distinct clinical characteristics and potential complications, including cutaneous and extra-cutaneous malignancies, some of which are potentially life-threatening. Diagnosing genetic syndromes is complex and requires numerous histopathological and immunohistochemistry tests due to similarities between the adnexal tumours and basal cell carcinoma upon pathology. Methods: To illustrate the clinical practice, we conducted a retrospective case study that included eleven patients with genodermatoses referred to a tertiary dermatology clinic from September 2018 to April 2024. We have also conducted a research study on available treatment modalities in this setting. Results: Five patients with excellent aesthetic results were treated using a recently approved FDA plasma device. After searching SCOPUS and PubMed database records, we assessed 96 original articles to present current knowledge regarding the dermato-surgical approach. Conclusions: Multiple skin tumours, especially on the face, may significantly affect patients' quality of life and have psychological consequences. An appropriate treatment selection tailored to the patient's needs should be provided. There is no standardised treatment for multiple benign tumours in genodermatoses, and selected methods with varying efficacy are employed. We presented the utility of a new plasma device in these settings.

2.
Int J Rheum Dis ; 23(11): 1505-1513, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32969158

RESUMEN

AIM: Methotrexate (MTX) administered at the dose 10-15 mg/m2 is recommended as the first-line therapy in most juvenile idiopathic arthritis (JIA) subtypes. The disease-modifying effect of methotrexate is associated with release of adenosine and mediated via binding to adenosine receptor A2A (ADORA2A) and 3 (ADORA3). The aim of our study was to determine the association between single nucleotide polymorphisms in ADORA2A (rs2236624, rs2298383) and ADORA3 (rs3393) receptor genes on the disease activity and presence of MTX therapy side effects in patients with JIA. METHODS: One hundred children with JIA of all subtypes treated with MTX were recruited to the study. Demographic and clinical parameters were collected at the baseline of MTX therapy and on a control visit 4-6 months after starting MTX. Single nucleotide polymorphism genotyping was performed using genomic DNA isolated from peripheral blood samples. RESULTS: The polymorphic variant of ADORA2A rs2236624 was associated with ~3.5 times higher odds of gastrointestinal side effects occurrence (odds ratio: 3.59, 95% CI: 1.15-11.22, P = 0.0282). Children with the ADORA3 rs3393 polymorphic variants (CT/CC) after 6 months of MTX treatment had significantly lower number of joints with active arthritis (median: 0.00 vs 1.00, P = 0.0400) and value of C-reactive protein (0.60 vs 2.40, P = 0.0242) in comparison to TT variant. CONCLUSION: Although future studies are needed to verify our findings, polymorphisms in ADORA2A and ADORA3 genes may become the determinants of MTX treatment efficacy and gastrointestinal toxicity in children with JIA.


Asunto(s)
Artritis Juvenil/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Metotrexato/uso terapéutico , Variantes Farmacogenómicas , Polimorfismo de Nucleótido Simple , Receptor de Adenosina A2A/genética , Receptor de Adenosina A3/genética , Factores de Edad , Artritis Juvenil/diagnóstico , Artritis Juvenil/genética , Niño , Preescolar , Femenino , Humanos , Inmunosupresores/efectos adversos , Masculino , Metotrexato/efectos adversos , Farmacogenética , Estudios Prospectivos , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento
3.
Pediatr Rheumatol Online J ; 18(1): 64, 2020 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-32787934

RESUMEN

BACKGROUND: Methotrexate is the most commonly used disease-modifying antirheumatic drug recommended in the treatment of juvenile idiopathic arthritis. It can be administered orally or subcutaneously, the latter method is associated with fewer side effects and higher drug bioavailability. Nevertheless, the pain associated with injection is a considerable drawback of this treatment option in the pediatric population. Currently, there are two single-use subcutaneous injection devices available: the prefilled syringe and the prefilled pen. This prospective, two-sequence crossover study aimed to compare ease of use, frequency of therapy side effects, injection-site pain and parent/patient preference of those methotrexate parenteral delivery systems. METHODS: Twenty-three patients with juvenile idiopathic arthritis, already treated with subcutaneous methotrexate in the form of prefilled syringe in the period October 2018 - April 2019 completed a questionnaire evaluating their experience with this device. Subsequently, children received a one-month supply of pen autoinjector and completed the same questionnaire, regarding their experience with the new methotrexate delivery system. If the patient was not performing the injections himself the questionnaires were completed by the caregiver administrating MTX. The results obtained in both questionnaires were compared using the Wilcoxon matched-pairs signed-rank test. RESULTS: 82,6% patients and their caregivers voted for the prefilled pen as their preferred method of subcutaneous methotrexate administration. Moreover, the injection with the prefilled pen was reported as less painful in comparison to the prefilled syringe (p < 0.01). Side effects of methotrexate were less pronounced after the prefilled pen treatment, this difference was most prominent regarding gastrointestinal adverse events associated with the injection (p < 0.01). CONCLUSION: Administration of methotrexate using the pen device is a promising way of subcutaneous methotrexate delivery in children with juvenile idiopathic arthritis, as the injection is less painful and associated with fewer side effects.


Asunto(s)
Artritis Juvenil , Inyecciones Subcutáneas , Metotrexato , Dolor Asociado a Procedimientos Médicos , Autoadministración , Jeringas , Antirreumáticos/administración & dosificación , Antirreumáticos/farmacocinética , Artritis Juvenil/tratamiento farmacológico , Artritis Juvenil/psicología , Disponibilidad Biológica , Niño , Equipos Desechables , Sistemas de Liberación de Medicamentos/instrumentación , Femenino , Humanos , Inyecciones Subcutáneas/efectos adversos , Inyecciones Subcutáneas/instrumentación , Inyecciones Subcutáneas/métodos , Masculino , Metotrexato/administración & dosificación , Metotrexato/farmacocinética , Evaluación de Resultado en la Atención de Salud , Dolor Asociado a Procedimientos Médicos/etiología , Dolor Asociado a Procedimientos Médicos/psicología , Satisfacción del Paciente , Proyectos Piloto , Autoadministración/efectos adversos , Autoadministración/instrumentación , Autoadministración/métodos , Encuestas y Cuestionarios , Jeringas/efectos adversos , Jeringas/clasificación
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