Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case–control association study among Iranian children / Lupus eritematoso sistémico de inicio juvenil y polimorfismo MEFV: un estudio de asociación de casos y controles entre niños iraníes

Introduction and objectives: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case–control study was performed on Iranian patients with a mixed ethnicity population. Patients and methods: Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. Main findings: Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P<0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P=0.000, OR=0.91, 95% CI=0.30–0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. Principal conclusion: We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms’ impacts on the key elements responsible for SLE pathogenesis is of great importance.(AU)

Introducción y objetivos: Este estudio está diseñado para evaluar las posibles influencias del polimorfismo del gen de la fiebre mediterránea (MEFV) en el lupus eritematoso sistémico (LES) en una cohorte de pacientes jóvenes. Se realizó un estudio de casos y controles en pacientes iraníes con una población de origen étnico mixto. Pacientes y métodos: Se investigaron los genotipos de 50 casos juveniles y 85 controles sanos para identificar el polimorfismo M694V y R202Q. El genotipado se realizó utilizando amplificación refractaria sistema de mutación-reacción en cadena de la polimerasa (ARMS-PCR) y reacción en cadena de la polimerasa-polimorfismo de longitud de fragmentos de restricción (PCR-RFLP) para detectar mutaciones M694V y R202Q, respectivamente. Hallazgos principales: Nuestro estudio indica diferencias significativas en las frecuencias de alelos y genotipos del polimorfismo MEFV entre pacientes con LES y controles sanos (p<0,05). Además, se encontró asociación entre compromiso renal (50% vs. 8.3%, p=0,000, OR=0.91, IC 95%=0,30–0,278) en pacientes con LES juvenil e incidente de polimorfismo M694V; pero no hubo asociación con otras manifestaciones clínicas. Conclusión principal: Encontramos una asociación significativa entre el polimorfismo R202Q y M694V del gen MEFV y la susceptibilidad a LES en la población estudiada; sin embargo, es de gran importancia realizar más estudios sobre la caracterización detallada de los impactos de estos polimorfismos en los elementos clave responsables de la patogénesis del LES.(AU)

Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.

INTRODUCTION AND OBJECTIVES: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case-control study was performed on Iranian patients with a mixed ethnicity population. PATIENTS AND METHODS: Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. MAIN FINDINGS: Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P<0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P=0.000, OR=0.91, 95% CI=0.30-0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. PRINCIPAL CONCLUSION: We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms' impacts on the key elements responsible for SLE pathogenesis is of great importance.

Effect of a Low-Level Laser on Liposomal Doxorubicin Efficacy in a Melanoma Cell Line.

Introduction: The cytotoxicity of chemotherapy drugs is a significant challenge in the way of surmounting cancer. Liposomal drug delivery has proven to be efficacious in increasing the function of the drugs. Its potential to accumulate drugs in the target site and enhance the efficiency of anti-cancer agents with lower doses hinders their cytotoxicity on normal healthy cells. Since the release of drugs from liposomes is not generally on a controlled basis, several studies have suggested that external stimuli including lasers could be used to induce controlled release and boost the efficiency of liposomal drug delivery systems (LDDSs). Methods: The A375 cancer cell line was used and exposed to the liposomes containing doxorubicin in the presence of a low-level laser beam to investigate its effect on the liposomal stimuli-responsiveness release and its toxicity on cancer cells. So as to achieve that goal, Annexin V/PI was employed to analyze the number of cells that underwent apoptosis and necrosis. Results: Here, we report the effect of laser irradiation on LDDSs. According to the results obtained from the annexin V/PI assay, the pattern of viability status has shifted, so that the number of pre-apoptotic cells treated with liposomal doxorubicin and a laser beam was more than that of cells treated with only liposomal doxorubicin. Conclusion: The use of stimuli-responsive LDDSs, in this case, laser-responsive, has led to favorable circumstances in the treatment of cancer, offering enhanced cancer cell cytotoxicity.

Clinical Symptoms and Types of Samples Are Critical Factors for the Molecular Diagnosis of Symptomatic COVID-19 Patients: A Systematic Literature Review.

BACKGROUND: Currently, a novel coronavirus found in 2019 known as SARS-CoV-2 is the etiological agent of the COVID-19 pandemic. Various parameters including clinical manifestations and molecular evaluation can affect the accuracy of diagnosis. This review aims to discuss the various clinical symptoms and molecular evaluation results in COVID-19 patients, to point out the importance of onset symptoms, type, and timing of the sampling, besides the methods that are used for detection of SARS-CoV-2. METHODS: A systematic literature review of current articles in the Web of Science, PubMed, Scopus, and EMBASE was conducted according to the PRISMA guideline. RESULTS: Of the 12946 patients evaluated in this investigation, 7643 were confirmed to be COVID-19 positive by molecular techniques, particularly the RT-PCR/qPCR combined technique (qRT-PCR). In most of the studies, all of the enrolled cases had 100% positive results for molecular evaluation. Among the COVID-19 patients who were identified as such by positive PCR results, most of them showed fever or cough as the primary clinical signs. Less common symptoms observed in clinically confirmed cases were hemoptysis, bloody sputum, mental disorders, and nasal congestion. The most common clinical samples for PCR-confirmed COVID-19 patients were obtained from throat, oropharyngeal, and nasopharyngeal swabs, while tears and conjunctival secretions seem to be the least common clinical samples for COVID-19 diagnosis among studies. Also, different conserved SARS-CoV-2 gene sequences could be targeted for qRT-PCR detection. The suggested molecular assay being used by most laboratories for the detection of SARS-CoV-2 is qRT-PCR. CONCLUSION: There is a worldwide concern on the COVID-19 pandemic and a lack of well-managed global control. Hence, it is crucial to update the molecular diagnostics protocols for handling the situation. This is possible by understanding the available advances in assays for the detection of the SARS-CoV-2 infection. Good sampling procedure and using samples with enough viral loads, also considering the onset symptoms, may reduce the qRT-PCR false-negative results in symptomatic COVID-19 patients. Selection of the most efficient primer-probe for target genes and samples containing enough viral loads to search for the existence of SARS-CoV-2 helps detecting the virus on time using qRT-PCR.

A literature review on the parvovirus B19 infection in sickle cell anemia and ß-thalassemia patients.

BACKGROUND: Parvovirus B19 is the causative agent for erythema infectiosum, and also as a potentially life-threatening infectious agent, it is mainly presented in high erythrocyte turnover patients. Sickle cell disease (SCD) is an inherited monogenic hematological disorder resulting from the mutations in the hemoglobin ß-chain gene. Thalassemia is a hereditary hematological syndrome that happens in consequence of deficiencies in the production of one or more globin chains. We summarize current knowledge about the prevalence rates of the parvovirus B19 infection in sickle cell anemia and thalassemia patients. METHODS: Several online databases were searched including, Scopus, EMBASE, Web of Science, Google Scholar, and PubMed, which were performed amidst 2009-2019 by using distinct keywords: "Thalassemia," "Parvovirus," "Anemia," "Sickle cell anemia," "parvoviridae," "parvoviridae infection," and "parvovirus B19." RESULTS: Search results indicated 4 and 7 studies for the prevalence of the parvovirus B19 in ß-thalassemia and SCD, respectively. Among the ß-thalassemia patients, the B19V seroprevalence for IgG and IgM were ranged from 18.2-81% and 14.5-41.1%, respectively; meanwhile, B19V DNA positively results was 4-15.3%. Moreover, in the SCD group, the extent of B19V IgG was varied from 37.6 to 65.9% and that of IgM was in a range of 2.9-30%, and the DNA detection rate was 4-54%. CONCLUSION: B19V seroprevalence changes in several conditions including, different epidemiological features, socio-economic status, and overpopulation. Age can expand the incidence of anti-B19V IgG/IgM in SCD and beta-thalassemia patients. Reinfection and diverse genotypes are relevant factors in the seroprevalence of B19v. The patients' immunological-hematological station and higher abundance of transfusions can affect the B19V seroprevalence in SCD and beta-thalassemia group. Further investigations in this field could be suggested to better understand the virus distribution in this susceptible population of patients.