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BACKGROUND AND OBJECTIVES: The type I interferon (IFN) signature has been found to be overactivated in many systemic autoimmune diseases. This may be explained by impaired regulation of interferon-stimulated genes (ISGs) as well as interferon-induced protein 44 (IFI44) expression via their regulatory mechanisms via interferon regulatory factors (IRFs). PATIENTS AND METHODS: This case-control study includes two groups: 50 RA patients and 50 healthy controls. The quantification of IFI44 and IRF4 expression levels by the real-time PCR technique was estimated. Disease Activity Score-28 (DAS-28) was estimated for RA patients only. RESULTS: Among the RA patients, there were statistically significant increased ESR, CRP, TLC, RF, and anti-CCP levels (p value < 0.001) and significant increased expression of the IFI44 and IRF4 genes (p value < 0.001). There was a significant positive correlation between the IFI44 and IRF4, and there was a significant correlation between both and ESR and anti-CCP among RA patients. At a cutoff point of 1.95, IFI44 shows higher sensitivity and specificity values than IRF4 for the diagnosis of RA. CONCLUSION: IFI44 was more sensitive for RA diagnosis than IRF4. IFI44 and IRF4 overexpression could be promising predictors of RA diagnosis and might become useful clinical tools to guide therapeutic strategies.
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Artritis Reumatoide , Factores Reguladores del Interferón , Humanos , Factores Reguladores del Interferón/genética , Artritis Reumatoide/genética , Artritis Reumatoide/diagnóstico , Masculino , Femenino , Persona de Mediana Edad , Estudios de Casos y Controles , Adulto , Péptidos y Proteínas de Señalización Intracelular/genética , Antígenos , Proteínas del CitoesqueletoRESUMEN
BACKGROUND AND AIM: Hepatocellular carcinoma (HCC) is a major health burden globally. Dysregulation of miRNA 148a-3p is engaged in carcinogenesis. TGF-ß is a profibrogenic cytokine. This study assesses the expression level of miRNA 148a-3p and its relationship with serum TGF-ß1 and fibrosis index based on four factors (FIB-4) in Egyptian patients with HCV-associated HCC. SUBJECTS: and Methods: The study included 72 HCC patients with HCV, 48 HCV cirrhotic patients, and 47 healthy controls. Serum TGF-ß1 was assessed by ELISA and the expression of miRNA 148a-3p was measured by RT-PCR. RESULTS: Patients with HCC had lower plasma miRNA 148a-3p, higher serum TGF-ß1, and higher FIB-4 levels than patients with cirrhosis and controls. miRNA 148a-3p discriminated HCC either from control (AUC: 0.997, 95.83% sensitivity, 85.11% specificity) or from cirrhosis (AUC: 0.943, 91.67% sensitivity, 81.25% specificity). Moreover, it distinguished metastatic from nonmetastatic patients (AUC: 0.800, 88.89% sensitivity, 60.0% specificity). The decreased miRNA 148a-3p and the increased TGF-ß1 levels were related to distant metastasis, multinodular lesions, advanced TNM stage, and BCLC score (C). A negative correlation between miRNA 148a-3p and each of FIB-4 and TGF-ß1 was detected. The decreased miRNA 148a-3p was associated with poor overall survival and poor progression-free survival. CONCLUSION: An inverse relationship between miRNA 148a-3p and both TGF-ß1 and FIB-4 was observed, which could be involved in HCC pathogenesis. Moreover, this miRNA is a potential diagnostic and prognostic biomarker for HCC.
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Late presentation of developmental dysplasia of the hip (DDH) remains a major orthopedic problem. However, existing management is not standardized and is highly surgeon dependent. The theory behind femoro-acetabular zones (FAZ) system is to find a relationship between acetabular maturity and severity of dislocation in one hand, and the outcome of closed reduction, on the other hand in late presenting cases. A retrospective study was performed on children with untreated DDH that underwent closed treatment. Our series consisted of 65 hips; mean patient age was 24 months (range: 9-30 months) with a minimum follow-up of 3 years. FAZ classification was applied to the pre-reduction pelvic radiograph, while the results were evaluated according to Severin's scoring system. Overall, 37 of 65 hips (57%) achieved a satisfactory outcome (Severin I and II), while 22 hips (33%) were found to be unsatisfactory (Severin III). Six hips (10%) needed an open reduction. FAZ expressed a simple and reliable classification in predicting the success of closed reduction. This novel X-ray-based classification system can easily predict patients with DDH in whom a closed reduction is likely to succeed and defer patients with higher grades to surgical intervention. Yet, its validity has to be verified in larger cohort studies and directly compared to the established International Hip Dysplasia Institute classification.
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Displasia del Desarrollo de la Cadera , Luxación Congénita de la Cadera , Acetábulo/diagnóstico por imagen , Acetábulo/cirugía , Niño , Preescolar , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/terapia , Humanos , Lactante , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Diabetic nephropathy (DN), the primary driver of end-stage kidney disease, is a problem with serious consequences for society's health. Single nucleotide polymorphisms (SNPs) can define differences in susceptibility to DN and aid in development of personalized treatment. Giving the importance of epoxyeicosatrienoic acids (EETs) in kidney health, we aimed to study the association between two SNPs in the genes controlling synthesis and degradation of EETs (CYP2J2 rs2280275 and EPHX2 rs751141 respectively) and susceptibility of type 2 diabetes mellitus (T2DM) patients to develop DN. PATIENTS AND METHODS: Two hundred subjects were enrolled and categorized into three groups: group I (80 T2DM patients with DN), group II (60 T2DM patients without DN) and group III (60 healthy controls). Urea, creatinine, albumin/creatinine ratio (ACR), and eGFR were measured for all participants. Genotyping of CYP2J2 rs2280275 and EPHX2 rs751141 was done by real time PCR. RESULTS: There was no significant difference between the studied groups regarding CYP2J2 rs2280275. In contrast, EPHX2 rs751141 was associated with increased risk of DN under a dominant model (GG vs GA+AA: OR=0.375; 95% CI (0.19-0.75), P=0.006) in unadjusted model and after adjustment for age and sex (OR=0.440; 95% CI (0.21-0.92), P=0.029), recessive model (AA vs GG+GA: OR=0.195; 95% CI (0.05-0.74), P=0.017) and additive model (GA vs GG+AA): OR=0.195; 95% CI (0.05-0.74), P=0.017). CONCLUSION: CYP2J2 rs2280275 was not associated with DN predisposition. However, EPHX2 rs751141 could be a genetic marker for development and progression of DN among Egyptian T2DM patients.
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BACKGROUND: 6-mercaptopurine (6-MP) is an essential component of pediatric acute lymphoblastic leukemia (ALL) maintenance therapy. Individual variability in this drug-related toxicity could be attributed in part to genetic polymorphism thiopurine methyltransferase (TPMT). AIM: To investigate the frequency of common TPMT polymorphisms in a cohort of Egyptian children with ALL and the possible relation between these polymorphisms and 6-MP with short-term complications. MATERIALS AND METHODS: This study included 25 children. Data related to 6-MP toxicity during the maintenance phase were collected from the patients' files. DNA was isolated and genotyping for TPMT G460A, and A719G mutations were performed by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: Twenty (80%) of the included 25 patients had a polymorphic TPMT allele. TPMT*3A was the most frequent (14/25, 56%), 8 patients were homozygous and 6 were heterozygous. TPMT*3C mutant allele was found in 4 patients (16%) in the heterozygous state while 2 patients (8%) were found to be heterozygous for TPMT*3B mutant allele. TPMT mutant patients, especially homozygous, were at greater risk of 6-MP hematological toxicity without significant difference regarding hepatic toxicity. CONCLUSIONS: TPMT polymorphism was common among the studied group and was associated with increased risk of drug toxicity. A population-based multi-center study is required to confirm our results.