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1.
Cell J ; 26(6): 337-350, 2024 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-39154234

RESUMEN

Among the various manifestations of oral cavity cancer, tongue squamous cell carcinoma (TSCC), is the most common form of this condition. TSCC represents a major challenge in the field of cancer treatment. The emergence of small interfering RNAs (siRNAs) has opened new avenues for therapeutic intervention in TSCC. This research provides an overview of siRNA-mediated mechanisms and emphasizes their complex involvement in modulating key signaling pathways associated with TSCC progression. Relevant articles from 2004 to 2023 were conducted by using different keywords, such as "Interfering RNA " and "Small Interfering ". The search was following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines based on inclusion and exclusion criteria. The quality of the studies was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria. The selected studies (n=17) were subjected to perform comprehensive analysis. We concluded that the PI3K/AKT and ERK pathways, one of oncogenic signaling cascades in TSCC is notable. siRNAs and their role in targeting specific signaling pathways help us understand the molecular mechanisms underlying TSCC that may lead to the development promising therapies for TSCC. These therapies have the advantage of personalization and precision, targeted delivery, and the potential to overcome drug resistance. Therefore, the study enhances our comprehension of siRNA-based interventions' clinical potential in TSCC.

2.
Pathol Res Pract ; 262: 155532, 2024 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-39142242

RESUMEN

BACKGROUND AND AIMS: Oral squamous cell carcinoma (OSCC) is among the most malignant cancers in the world and has a high mortality rate. MicroRNAs (miRNAs) have progressively gained attention due to their roles in the pathogenesis and maintenance of various kinds of cancers, including OSCC. In this research, we carried out a scoping review to analyze the role of miRNA and therapeutic response in OSCC and focus on target axes associated with miRNA that inhibit metastasis and cell proliferation in OSCC. METHODS: This review adhered to a six-stage methodology framework and PRISMA guidelines. Three databases were systematically searched to find eligible articles until July 2024. Two reviewers conducted publication screening and data extraction independently. 54 articles meeting the predefined inclusion criteria were successfully identified. Quality assessment was done using the QUIN checklist specified for dental in vitro studies. RESULTS: Studies with different designs reported 53 miRNAs that were experimentally validated to act as therapeutic targets in OSCC in vivo and in vitro studies. The study found that 25 miRNAs were up-regulated in OSCC patients and cell lines, while another 25 were down-regulated. Mir-186 was also found to be up- and down-regulated in two different investigations. The study highlights the potential of six microRNAs (miR-32-5p, miR-195-5p, miR-3529-3p, miR-191, miR-146b-5p, and miR-377-3p) as anti-proliferation, migration, and invasion therapeutics for OSCC treatment. Two miRNAs (miR-302b and miR-18a) are identified as anti-metastatic therapeutics, while four miRNAs (miR-617, miR-23a-3p, miR-105, miR-101) are anti-proliferation therapeutics. CONCLUSION: The study recommends that restoring the expression of tumor suppressor miRNAs may be a suitable cancer therapy. Utilizing this technology does present certain difficulties, and resolving them will improve the methods for miRNA transfer to target cells. With more research and the resolution of associated issues, miRNA can be employed as an efficient therapeutic method for OSCC.

3.
Iran J Child Neurol ; 18(3): 131-135, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38988840

RESUMEN

Spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (PME) affects the nervous system. Symptoms appear in early childhood and include muscle weakness, difficulty walking, seizures, and cognitive decline. Despite introducing various therapies to restore acid ceramidase function or reduce ceramide accumulation and gene therapy to correct genetic mutations, there are still unknown underlying molecular mechanisms related to this disorder. This article reports a novel variant c.118G>C in the ASAH1 gene. The patient presented with clinical manifestations such as progressive muscle weakness and myoclonic convulsions. Clinical features and electrophysiological investigations revealed a motor neuron disease and generalized epileptic discharge. A significant temporal interval was observed between the initial diagnosis of SMA and the subsequent manifestation of myoclonic seizures. The proband was genetically assessed through whole exome sequencing (WES) followed by variant confirmation and bioinformatics analysis. According to this article's findings and previous research, further diagnostic testing and management are needed to determine the severity and progression of the patient's condition.

4.
J Stomatol Oral Maxillofac Surg ; 125(3S): 101806, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38408642

RESUMEN

OBJECTIVES: Oral squamous cell carcinoma (OSCC) is the most common type of oral neoplasms that consist of more over 90% of oral cancers. It was demonstrated that erosive atrophic oral lichen planus (OLP) has potential of malignancy transformation into OSCC. The microRNAs are non-coding regulator sequences involved in cancer process. The miR-99a involve in growth, proliferation, migration, invasion, and metastasis of tumor cells. Therefore, we evaluated miR-99a expression in serum of OSCC and erosive atrophic OLP patients in comparison to healthy control individuals to more investigate about level of miR-99a expression in potential premalignant disorder (erosive atrophic OLP) in comparison to malignant transformation form (OSCC). Gene ontology (GO) and pathway analyses were performed to better understand the importance of miR-99a in OSCC. MATERIALS AND METHODS: In this cross-sectional study, total 90 serum samples from OSCC patients (n = 30), erosive atrophic OLP (n = 30) and healthy control individuals (n = 30) were collected, and then evaluated for miR-99a expression by qPCR. Pathway analysis and protein-protein interaction were done using STRING (v: 12.0), and (GO) terms and related genes were extracted from the GO online search tool. The statistical analysis was evaluated by Kruskal Wallis, Chi-Square, Kruskal Wallis, Spearman and Mann-Whitney tests. The p-value less than 0.05 was considered statistically significant. RESULTS: miR-99a expression down regulated in OSCC in comparison to erosive atrophic OLP and control groups (p < 0.05). The miR-99a up regulated in grade I more than grades II and III (p < 0.05). We showed upregulation of miR-99a in early stage more than advanced stage (p < 0.05). Expression of miR-99a reduced accordance to the increasing of tumor size and lymph involvement levels (p < 0.05). The 165 determined targets were classified into three domains. The most significant enrichment in biological processes, cellular components, and molecular functions was in the cellular nitrogen compound biosynthetic process, cytosolic ribosome, and protein binding, respectively. CONCLUSIONS: We highlighted tumor suppressive role of miR-99a in OSCC patients. It seems that miR-99a can be considered a valuable biomarker for the early diagnosis of erosive atrophic OLP before transformation. CLINICAL RELEVANCE: Our results may help to better understand the prognostic factor for oral squamous cell carcinoma to evaluate survival and subsequent tumor development. And it may also help to understand the pathogenesis of OSCC.


Asunto(s)
Biomarcadores de Tumor , Carcinoma de Células Escamosas , Liquen Plano Oral , MicroARNs , Neoplasias de la Boca , Humanos , Liquen Plano Oral/sangre , Liquen Plano Oral/diagnóstico , Liquen Plano Oral/patología , Liquen Plano Oral/genética , MicroARNs/sangre , MicroARNs/genética , Neoplasias de la Boca/sangre , Neoplasias de la Boca/patología , Neoplasias de la Boca/diagnóstico , Neoplasias de la Boca/genética , Femenino , Masculino , Persona de Mediana Edad , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/genética , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/sangre , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/genética , Estudios Transversales , Anciano , Adulto , Estudios de Casos y Controles , Lesiones Precancerosas/diagnóstico , Lesiones Precancerosas/sangre , Lesiones Precancerosas/patología
5.
Curr Pharm Des ; 30(4): 310-322, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38310566

RESUMEN

BACKGROUND: Oral squamous cell carcinoma (OSCC) and oral lichen planus (OLP) are two separate conditions affecting the mouth and result in varying clinical outcomes and levels of malignancy. Achieving early diagnosis and effective therapy planning requires the identification of reliable diagnostic biomarkers for these disorders. MicroRNAs (miRNAs) have recently received attention as powerful biomarkers for various illnesses, including cancer. In particular, miR-483-5p is a promising diagnostic and prognostic biomarker in various cancers. Therefore, this study aimed to investigate the role of serum miR-483-5p in the diagnosis and prognosis of OLP and OSCC patients by in silico analysis of differential gene expression. METHODS: GSE23558 and GSE52130 data sets were selected, and differential gene expression analysis was performed using microarray data from GSE52130 and GSE23558. The analysis focused on comparing OLP and OSCC samples with normal samples. The genes intersected through the differential gene expression analysis were then extracted to determine the overlapping genes among the upregulated or downregulated DEGs. The downregulated genes among the DEGs were subsequently imported into the miRWalk database to search for potential target genes of miRNA 483-5p that lacked validation. To gain insight into the biological pathways associated with the DEGs, we conducted pathway analysis utilizing tools, such as Enrichr. Additionally, the cellular components associated with these DEGs were investigated by analyzing the String database. On the other hand, blood serum samples were collected from 35 OSCC patients, 34 OLP patients, and 34 healthy volunteers. The expression level of miR-483-5p was determined using quantitative reverse transcription polymerase chain reaction (RT-qPCR). The Kruskal-Wallis test was utilized to investigate the considerable correlation. Moreover, this study explored the prognostic value of miR-483-5p through its association with clinicopathological parameters in OSCC patients. RESULTS: The results showed that serum expression of miR-483-5p was considerably higher in OSCC patients compared to OLP patients and healthy controls (p 0.0001) and that this difference was statistically significant. Furthermore, elevated miR-483-5p expression was associated with tumor size, lymph node metastasis, and stage of tumor nodal metastasis in OSCC patients (p 0.001, p 0.038, and p 0.0001, respectively). In silico analysis found 71 upregulated genes at the intersection of upregulated DEGs and 44 downregulated genes at the intersection of downregulated DEGs, offering insight into the potential underlying mechanisms of miR-483-5p's engagement in OSCC and OLP. The majority of these DEGs were found to be involved in autophagy pathways, but DEGs involved in the histidine metabolism pathway showed significant results. Most of these DEGs were located in the extracellular region. After screening for downregulated genes that were invalidated, miRNA 483-5p had 7 target genes. CONCLUSION: This study demonstrates the potential of serum miR-483-5p as a promising diagnostic and prognostic biomarker in OSCC and OLP patients. Its upregulation in OSCC patients and its association with advanced tumor stage and potential metastasis suggest the involvement of miR-483-5p in critical signaling pathways involved in cell proliferation, apoptosis, and cell cycle regulation, making it a reliable indicator of disease progression. Nevertheless, additional experimental studies are essential to validate these findings and establish a foundation for the advancement of targeted therapies and personalized treatment approaches.


Asunto(s)
Biomarcadores de Tumor , Liquen Plano Oral , MicroARNs , Neoplasias de la Boca , Humanos , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/genética , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/sangre , Carcinoma de Células Escamosas/patología , Simulación por Computador , Regulación Neoplásica de la Expresión Génica , Liquen Plano Oral/genética , Liquen Plano Oral/sangre , Liquen Plano Oral/diagnóstico , MicroARNs/sangre , MicroARNs/genética , Neoplasias de la Boca/genética , Neoplasias de la Boca/sangre , Neoplasias de la Boca/diagnóstico , Neoplasias de la Boca/patología , Pronóstico
6.
Brain Commun ; 5(5): fcad222, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37794925

RESUMEN

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction.

7.
Heliyon ; 9(10): e20652, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37829813

RESUMEN

Lung cancer (LC) is one of the most common cancer-related mortality in the world. Even with intensive multimodality therapies, lung cancer has a poor prognosis and a high morbidity rate. This review focused on the role of non-coding RNA polymorphisms such as lncRNAs and miRNAs in the resistance to LC therapies, which could open promising avenue for better therapeutic response. Of note, there is currently no valid biomarker to predict lung cancer sensitivity in patients during treatment. Since genetic variations cause many challenges in treating patients, genotyping of known polymorphisms must be thoroughly explored to find desirable treatment platforms. With this knowledge, individualized treatments could become more possible in management of LC.

8.
Adv Biomed Res ; 12: 150, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37564451

RESUMEN

Background: The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms. Molecular analysis of the DYSF gene is challenging due to the wide range of mutations and associated complications in interpretations of novel DYSF variants with uncertain significance. Thus, in the current study, we performed the NGS analysis and its results are confirmed with Sanger sequencing to find the plausible disease-causing variants in patients with muscular dystrophy and their relatives via segregation analysis. Materials and Methods: Nine patients with LGMD type 2B (LGMD2B) characteristics were screened for putative mutations by the whole-exome sequencing (WES) test. Either the patients themselves or their parents and first relatives were investigated in the segregation analysis through Sanger sequencing. The majority of variants were classified as pathogenic through American College of Medical Genetics and Genomics (ACMG) guidelines, segregation results, and in silico predictions. Results: Results revealed eight variants in DYSF gene, including three splicing (c.1149+4A>G, c.2864+1G>A, and c.5785-7G>A), two nonsense (p.Gln112Ter and p.Trp2084Ter), two missense (p.Thr1546Pro and p.Tyr1032Cys), and one frameshift (p.Asp1067Ilefs), among nine Iranian families. One of the eight identified variants was novel, including p.Asp1067Ilefs, which was predicted to be likely pathogenic based on the ACMG guidelines. Notably, prediction tools suggested the damaging effects of studied variants on dysferlin structure. Conclusion: Conclusively, the current report introduced eight variants including a novel frameshift in DYSF gene with noticeable pathogenic effects. This study significantly can broaden the diagnostic spectrum of LGMD2B in combination with previous reports about DYSF mutations and may pave the way for a rapidly high-ranked identification of the accurate type of dysferlinopathy.

9.
J Chem Theory Comput ; 19(4): 1186-1196, 2023 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-36735891

RESUMEN

Recognition of different structural patterns in different potential energy surface regions, such as in isomerizing quasilinear tetra atomic molecules, is important for understanding the details of underlying physics and chemistry. In this respect, using three variants of artificial neural networks (ANNs), we investigated the six-dimensional (6-D) singlet potential energy surfaces (PES) of tetra atomic isomers of the biogenic [H, C, N, O] system. At first, we constructed a separate ANN potential for each of the studied isomers. In the next step, a comparative assessment of the separate ANN models led to the setting up of a unified 6-D singlet PES equally and accurately describing all studied isomers. The constructed unified model yields relative energies comparable to those obtained either from the gold standard CCSD(T) method or from separate ANNs for each of the studied isomers. The accuracy of the unified singlet PES is on the order of 10-4 Hartrees (0.1 kcal/mol). The developed PES in this work captures the main features of nonlinear and quasilinear tetra atomic isomers of this biogenic system.

10.
Mov Disord Clin Pract ; 10(1): 101-108, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36698997

RESUMEN

Background: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA-related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infantile seizures. Cases: We report four individuals with a new phenotype of childhood-onset choreo-dystonia belonging to two unrelated Iranian pedigrees and harboring a novel homozygous nonsense pathogenic variant NM_002143.3:c.49C>T p.(Arg17*) in HPCA. Although the families are both Iranian, haplotype analysis of the exome data did not reveal a founder effect of the variant. Literature Review: A systematic review of articles on HPCA and dystonia published since the disease gene discovery (PubMed; search on July 09, 2022; search strategy "HPCA AND dystonia", "HPCA AND movement disorder", "hippocalcin AND dystonia", and "hippocalcin AND movement disorder"; no language restriction) resulted in 18 references reporting 10 cases from six families. HPCA-related dystonia was isolated or in various combinations with neurodevelopmental delay, intellectual disability, seizures, cognitive decline, and psychiatric comorbidity. Onset of dystonia ranged from infancy to early adulthood. Dystonia started in the limbs or neck and became generalized in most cases. Brain MRI was unremarkable in nearly all cases where performed. There was poor or no response to common antidystonic medications in most cases. Conclusions: Our case series expands the pheno-genotypic spectrum of HPCA-related disorder by describing childhood-onset choreo-dystonia as a new phenotype, reporting on a recurrent novel pathogenic nonsense variant in HPCA, and suggesting that exon 2 of HPCA might be a mutational hotspot.

11.
Egypt J Med Hum Genet ; 24(1): 14, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36718139

RESUMEN

The coronavirus disease 2019 (COVID-19) pandemic has caused human tragedy through the global spread of the viral pathogen SARS-CoV-2. Although the underlying factors for the severity of COVID-19 in different people are still unknown, several gene variants can be used as predictors of disease severity, particularly variations in viral receptor genes such as angiotensin-converting enzyme 2 (ACE2) or major histocompatibility complex (MHC) genes. The reaction of the immune system, as the most important defense strategy in the case of viruses, plays a decisive role. The innate immune system is important both as a primary line of defense and as a trigger of the acquired immune response. The HLA-mediated acquired immune response is linked to the acquired immune system. In various diseases, it has been shown that genetic alterations in components of the immune system can play a crucial role in how the body responds to pathogens, especially viruses. One of the most important host genetic factors is the human leukocyte antigen (HLA) profile, which includes HLA classes I and II and may be symbolic of the diversity of immune response and genetic predisposition in disease progression. COVID-19 will have direct contact with the acquired immune system as an intracellular pathogen after exposure to the proteasome and its components through class I HLA. Therefore, it is assumed that in different genotypes of the HLA-I class, an undesirable supply causes an insufficient activation of the immune system. Insufficient binding of antigen delivered by class I HLA to host lymphocytes results in uncertain identification and insufficient activation of the acquired immune system. The absence of secretion of immune cytokines such as interferons, which play an important role in controlling viral infection in the early stages, is a complication of this event. Understanding the allelic diversity of HLA in people infected with coronavirus compared with uninfected people of one race not only allows identification of people with HLA susceptible to COVID-19 but also provides better insight into the behavior of the virus, which helps to take effective preventive and curative measures earlier.

12.
Mol Biol Rep ; 50(2): 1281-1291, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36451000

RESUMEN

BACKGROUND: Bone tissue as a dynamic tissue is able to repair its minor injuries, however, sometimes the repair cannot be completed by itself due to the size of lesion. In such cases, the best treatment could be bone tissue engineering. The use of stem cells in skeletal disorders to repair bone defects has created bright prospects. On the other hand, changes in the expression level of microRNAs (miRs) can lead to the commitment of mesenchymal stem cells (MSCs) to cell lineage. Many studies reported that post-transcriptional regulations by miRNAs are involved in all stages of osteoblast differentiation. METHOD: After the preparing adipose tissue-derived mesenchymal stem cells, the target cells from the third passage were cultured in two groups, transfected MSCs with miR-27a-3p (DM.C + P) and control group. In different times, 7 and 14 days after culture, differentiation of these cells into osteoblast were measured using various techniques including the ALP test and calcium content test, Alizarin Red staining, Immunocytochemistry technique (ICC). Also, the relative expression of bone differentiation marker genes including Osteonectin (ON), Osteocalcin (OC), RUNX Family Transcription Factor 2 (RUNX2), Collagen type I alpha 1 (COL1) was investigated by real-time RT PCR. RESULTS: In comparison with control groups, overexpression of miR-27a-3p in transfected cells resulted in a significant increase in the expression of bone markers genes (ON, OC, RUNX2, COL1), alkaline phosphatase (ALP) activity, and calcium content (p < 0.05). In addition, the results obtained from ICC technique showed that osteocalcin protein is expressed at the surface of bone cells. Furthermore, the expression of APC, as a target of miR-27a-3p, decreased in transfected cells. CONCLUSION: Our data suggest that miR-27a-3p may positively regulates adipose tissue-derived mesenchymal stem cell differentiation into bone by targeting APC and activating the Wnt/b-catenin pathway.


Asunto(s)
Células Madre Mesenquimatosas , MicroARNs , Humanos , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/metabolismo , Osteocalcina/genética , Osteocalcina/metabolismo , Calcio/metabolismo , MicroARNs/genética , MicroARNs/metabolismo , Diferenciación Celular/genética , Células Madre Mesenquimatosas/metabolismo , Osteogénesis/genética , Tejido Adiposo/metabolismo , Células Cultivadas
13.
Iran J Allergy Asthma Immunol ; 21(3): 344-354, 2022 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-35822684

RESUMEN

Neutropenia congenita grave (SCN) is a rare disease with a genetically and clinically heterogeneous nature, usually diagnosed in childhood, with an elevated risk of infections such as otitis, skin infections, pneumonia, deep abscesses, and septicemia. Patients with SCN also have an increased risk of leukemia, and mutations in the ELANE and the HAX1 genes have been observed in those patients. This study was conducted to genetically screen six Iranian families with SCN who have at least one affected person. In the first step, all exons and intron boundaries of ELANE and HAX1 genes were sequenced in probands. Cases with no pathogenic mutations were tested through whole-exome sequencing (WES). Analysis showed five different variants in ELANE (c.377 C>T), HAX1 (c.130_131 insA), HYOU1 (c.69 G>C and c.2744 G>A) and SHOC2 (c.4 A>G) genes in four families. We found that two out of six families had mutations in ELANE and HAX1 genes. Moreover, we found two novel mutations at the HYOU1 gene that had not previously been reported, as well as a pathogenic mutation at SHOC2 with multiple phenotypes, that will contribute to determining the genetic basis for SCN. Our study revealed that WES could help diagnose SCN, improve the classification of neutropenia, and rule out other immunodeficiencies such as autoimmune neutropenia, primary immunodeficiency diseases, and inherited bone marrow failure syndromes.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Péptidos y Proteínas de Señalización Intracelular , Elastasa de Leucocito , Neutropenia , Proteínas Adaptadoras Transductoras de Señales/genética , Síndromes Congénitos de Insuficiencia de la Médula Ósea/genética , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Irán/epidemiología , Elastasa de Leucocito/genética , Neutropenia/congénito , Neutropenia/diagnóstico , Neutropenia/genética
14.
Clin Rheumatol ; 41(11): 3487-3494, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35857215

RESUMEN

INTRODUCTION/OBJECTIVES: MiRSNPs may interfere with mRNA stability through effects on microRNAs (miRNAs)-mRNA interactions via direct changes in miRNA binding site or effect on the secondary structure of this region and changes in accessibility of this region to miRNAs. Studies have confirmed that an elevated level of interleukin-15 receptor alpha (IL-15RA) has an important role in the pathogenesis of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). In the present study, for the first time, we aimed to evaluate the possible correlation between a miRSNP, rs2296135, in IL-15RA gene with the risk of SLE and RA. METHODS: In this case-control study, 100 SLE patients, 100 RA patients, and 110 healthy participants were enrolled to assess rs2296135 genotypes with real-time PCR high-resolution melting method. RESULTS: According to our findings, AA genotype and A allele of rs2296135 were considerably associated with enhanced risk of RA (for AA genotype, OR = 2.29; 95% CI [1.06-5.02]; for A allele, OR = 1.65; 95% CI [1.10-2.48]). However, this common variant was not significantly correlated with SLE risk in population under study. Stratification analysis in the RA group verified that patients with the A allele had considerably higher serum concentrations of C-reactive protein (CRP) (P < 0.001). In SLE subjects, the frequency of arthritis (P: 0.021) and renal involvement (P: 0.025) in patients with A allele was significantly higher than in other SLE individuals. CONCLUSION: The current study proposes a substantial association between rs2296135 polymorphism in IL-15RA gene with augmented risk of RA and some clinical characteristics in RA and SLE patients.


Asunto(s)
Artritis Reumatoide , Lupus Eritematoso Sistémico , MicroARNs , Artritis Reumatoide/epidemiología , Artritis Reumatoide/genética , Sitios de Unión , Proteína C-Reactiva/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Subunidad alfa del Receptor de Interleucina-15/genética , Lupus Eritematoso Sistémico/epidemiología , Lupus Eritematoso Sistémico/genética , Polimorfismo de Nucleótido Simple , ARN Mensajero
15.
Obstet Gynecol Sci ; 63(3): 323-329, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32489977

RESUMEN

OBJECTIVE: This study aims to investigate the complications due to misoprostol administration for second-trimester termination of pregnancy among women with history of 2 or more cesarean scarring. METHODS: The cohort of this retrospective study included 678 subjects who required second-trimester pregnancy termination, from 2013 to 2015 and treated with vaginal misoprostol of 100 to 400 µg. The subjects were divided into 3 groups based on their history of cesarean sections: without a history of cesarean section, with a history of one cesarean section, and with a history of more than one cesarean section and uterine scaring. RESULTS: The results showed that the success rate of misoprostol administration for pregnancy termination was 95.72%. The rate of bleeding as a complication was significantly higher in subjects with a history of more than one cesarean section than in other participants (risk ratio [RR], 2.24; 95% confidence interval [CI], 1.11-4.0). The incidence of uterine rupture was higher in the group with a history of more than one cesarean section than in other groups. However, no significant difference was observed between the groups (RR, 1.44; 95% CI, 0.27-7.6). There was a significant relationship between the need for other auxiliary treatments in the pregnancy termination and the history of uterine scarring (RR, 3.3; 95% CI, 1.23-9.1). CONCLUSION: The present study showed that pregnancy termination using smaller divided dose of misoprostol in patients with previous history of cesarean scarring may be associated with lower incidence of uterine rupture.

16.
Stroke Res Treat ; 2018: 7681682, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29682273

RESUMEN

BACKGROUND: Stroke is the second leading cause of death worldwide. The role of zinc as a new predictor of stroke was considered. METHODS: This prospective study was conducted in Ayatollah Rouhani Hospital within a year on 100 stroke and 100 control patients. FINDINGS: The difference in zinc serum level in two groups was significant (deficiency: 3 (3%) in patients versus 20 (20%) in control group, normal: 25 (25%) versus 54 (54%), and increased level: 72 (72%) versus 26 (26%); p < 0.001). Difference in zinc serum levels was statistically significant with ischemic heart disease (deficiency: 0 cases (0%), normal: 8 cases (24%), increased level: 24 cases (75%), p = 0.003). Increases in zinc serum level were significantly correlated with the frequency of hemorrhagic and ischemic patients (deficiency: 3 (3.3%) hemorrhagic versus 0 (0%) ischemic; normal: 19 (21%) versus 6 (60%), increased level: 68 (75.6%) versus 4 (40%); p = 0.025). Regression logistics showed that ischemic heart disease (p < 0.001; OR = 28.29, %95 CI: 5.53; 144.87), hyperlipidemia (p < 0.001; OR = 0.26, %95 CI: 0.12; 0.56), and zinc serum level (p < 0.001, OR = 15.53, %95 CI: 4.03; 59.83) each had a significant role. CONCLUSIONS: Babol stroke patients are prone to increased zinc serum level as a new parameter. Ischemic heart disease, increased levels of zinc, and hyperlipidemia were found to be probable predictor factors for stroke in Babol.

17.
Ultrason Sonochem ; 37: 335-343, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28427641

RESUMEN

In this study, tellurium (Te) nanostructures were synthesized via a facile sonochemical method by reducing TeCl4 to Te under ultrasonic irradiation in methanol. Moreover, by carrying out the reaction in an alkaline environment TeO2 nanoparticles were produced. According to our knowledge, it is the first time that without secondary reducing agent Te4+ are reduced to Te. Also, the effects of ultrasonic power, irradiation time, solvent, and surfactant on the morphology and particle size of Te nanostructures were investigated. The obtained products were characterized by XRD, SEM, EDS, FT-IR and DRS.

18.
Epilepsy Behav ; 69: 1-6, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28213162

RESUMEN

INTRODUCTION: Lamotrigine (LTG) is an antiepileptic drug that inhibits the release of glutamate by blocking sodium channels. The present study was conducted to evaluate the effect of LTG in different stages of memory using a passive avoidance learning task in mice. METHODS: Male albino mice in the weight range 20-25g were used. They were divided into four groups (control group and three groups receiving various doses of LTG). LTG was given in three doses of 10, 25, and 50mg/kg as intraperitoneal (IP) injections. The doses of LTG were used in three injection groups: before acquisition, after consolidation, and before retrieval at 24h. The retention latency times in each group were recorded using a step-through passive avoidance task 24h and one week after consolidation. RESULTS: Retention latency in the group receiving a high dose of LTG (25mg/kg) after one week was significantly increased in comparison to the group receiving a low dose of LTG (10mg/kg) (267±49.96 vs. 198.87±57.22, P=0.015). With injection of LTG after consolidation, the retention latency times were increased in all doses after a one-week retrieval compared to the control (P=0.023). Kaplan-Mayer surveillance analysis also showed significant differences in the latencies of the LTG-receiving group after 24h and one week's retrieval (P=0.041). Administration of LTG before retrieval at 24h showed a significant difference in retention latency time, which was increased for two doses of LTG (10 and 50mg/kg) after one week (203.5±63.67 vs. 270.25±19.78, P=0.024). CONCLUSION: LTG at higher doses may facilitate the learning process in mice and appears to improve memory function at different stages.


Asunto(s)
Anticonvulsivantes/farmacología , Reacción de Prevención/efectos de los fármacos , Memoria/efectos de los fármacos , Dimensión del Dolor/efectos de los fármacos , Triazinas/farmacología , Animales , Reacción de Prevención/fisiología , Relación Dosis-Respuesta a Droga , Inyecciones Intraperitoneales , Lamotrigina , Masculino , Memoria/fisiología , Ratones , Dimensión del Dolor/métodos , Resultado del Tratamiento
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