CLINICAL IMPORTANCE OF CIRCULATING AND CELLULAR EXPRESSION LEVELS OF FAS AND FAS LIGAND IN PEDIATRIC PATIENTS WITH LYMPHOPROLIFERATIVE MALIGNANCIES

AbstractThe aim of the present study was to investigate the distribution of CYP2C8 variants *3 and *5, as well as their effect on carbamazepine pharmacokinetic properties, in 40 epileptic pediatric patients on carbamazepine treatment. Genotyping was conducted using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and allele-specific (AS)-PCR methods, and steady-state carbamazepine plasma concentrations were determined by high performance liquid chromatography (HPLC). The CYP2C8 *3 and *5 polymorphisms were found at frequencies of 17.5 and 0.0%, respectively. After dose adjustment, there was a difference in daily dose in CYP2C8*3 carriers compared to non carriers [mean ± standard deviation (SD): 14.19 ± 5.39 vs. 15.46 ± 4.35 mg/kg; p = 0.5]. Dose-normalized serum concentration of carbamazepine was higher in CYP2C8*3 (mean ± SD: 0.54 ± 0.18 vs. 0.43 ± 0.11 mg/mL, p = 0.04), and the observed correlation between weight-adjusted carbamazepine dose and carbamazepine concentration after dose adjustment was significant only in CYP2C8*3 non carriers (r = 0.52, p = 0.002). However, the population pharmacokinetic analysis failed to demonstrate any significant effect of CYP2C8 *3 polymorphism on carbamazepine clearance [CL L/h = 0.215 + 0.0696*SEX+ 0.000183*DD]. The results indicated that the CYP2C8*3 polymorphism might not be of clinical importance for epilepsy treatment in pediatric populations.

Download Full-text

MicroRNA Era: The Importance for Diagnosis and Prognosis of Adrenocortical Tumors

BioMed Research International ◽

10.1155/2014/381917 ◽

2014 ◽

Vol 2014 ◽

pp. 1-6 ◽

Cited By ~ 5

Author(s):

João Evangelista Bezerra ◽

Ana Claudia Latronico

Keyword(s):

Gene Expression ◽

Posttranscriptional Regulation ◽

Essential Role ◽

Pediatric Patients ◽

Regulation Of Gene Expression ◽

Adrenal Tumors ◽

Expression Levels ◽

Adrenocortical Tumors ◽

Diagnosis And Prognosis ◽

Current Review

MicroRNAs play an essential role in posttranscriptional regulation of gene expression. They are evolutionary conserved, small, noncoding, 19–22-nucleotide RNAs, whose abnormalities, such as up- or downregulated expression, have been associated with several neoplasms, including adrenocortical tumors. Expression levels of distinct microRNAs can distinguish benign from malignant adrenal tumors. This current review provides recent data on the miRNAs profile in benign and malignant adrenocortical tumors diagnosed in adult and pediatric patients.

Download Full-text

Etiologies of abdominal pain emergencies in pediatrics

International Journal of Community Medicine and Public Health ◽

10.18203/2394-6040.ijcmph20214082 ◽

2021 ◽

Author(s):

Hala Atta Youssef ◽

Aishah Mohammad Alkhaldi ◽

Manar Mohammed Alshahrani ◽

Abdullah Tariq Almalki ◽

Amjad Ali Alahmari ◽

...

Keyword(s):

Emergency Department ◽

Abdominal Pain ◽

Pediatric Patients ◽

Surgical Intervention ◽

Acute Abdominal Pain ◽

Clinical Importance ◽

Healthcare Settings ◽

Common Causes ◽

The Common ◽

Attending Physicians

Reports showed that children usually complained of acute abdominal pain, which indicated the presence of severe underlying conditions and can have significant clinical importance. Serious challenges have been reported in healthcare settings where an urgent evaluation of the cases was necessary to adequately manage the patient before developing serious complications that might even end up with death. Some of these conditions included intussusception, appendicitis, volvulus and adhesions. Although estimates indicated that only around 1% of pediatric patients with acute abdominal pain usually required surgical intervention, concerns regarding the overlooking and misdiagnosis of significant conditions that might have severe prognostic outcomes were aroused among the different emergency departments. This study reviewed the common causes of acute abdominal pain among children admitted to the emergency department. Our results indicated that various etiologies can develop acute abdominal pain and therefore, establishing an adequate diagnosis by differentiating between the different etiologies should be done by the attending physicians to enhance the outcomes and adequately manage the admitted patients. Gastrointestinal causes of acute abdominal pain were the commonest to cause admissions to the emergency department. However, care should also be provided to the less common conditions, which might include genitourinary and pulmonary disorders and therefore, a thorough examination of children should be provided not to conduct a misdiagnosis of the underlying condition.

Download Full-text

Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy

Frontiers in Oncology ◽

10.3389/fonc.2021.628531 ◽

2021 ◽

Vol 11 ◽

Author(s):

Huimin Hu ◽

Weiling Zhang ◽

Tian Zhi ◽

Jing Li ◽

Yuan Wen ◽

...

Keyword(s):

Next Generation Sequencing ◽

Survival Rate ◽

Mismatch Repair ◽

Pediatric Patients ◽

Next Generation ◽

Expression Levels ◽

Dna Mismatch ◽

Mismatch Repair Status ◽

Generation Sequencing ◽

Potential Biomarkers

BackgroundHepatoblastoma (HB) is the most common malignant embryonic liver tumor type in children under 3 years of age. In the present study, the next generation sequencing (NGS) method was used to detect the genotype characteristics of HB and summarize the correlation between the common mutation genotypes noted in this disease and the clinical treatment and prognosis. The results may aid clinical prognosis and the successful application of targeted drugs.MethodsInitially, DNA was extracted from tumor tissue specimens and peripheral blood derived from 19 pediatric patients with HB. Subsequently, DNA panel and NGS methods were used to detect tumor diagnosis and the expression levels of treatment-associated genes, followed by the summary of genotype characteristics. In addition, in order to further assess the application of immunotherapy in HB, immunohistochemical detection of programmed cell death 1 ligand 1 (PDL1) was performed in combination with tumor mutation burden (TMB) and DNA mismatch repair status analysis. Furthermore, the clinical treatment effect and prognosis of the pediatric patients were statistically analyzed according to the characteristics of the genotype. Overall prognosis and prognostic analyses in different groups were performed by Kaplan-Meier and log-rank tests, respectively. Finally, expression validation and diagnostic analysis of commonly reported genes were performed in the GSE75271 dataset, which was obtained from the Gene Expression Omnibus (GEO) database.ResultsIn the present study, certain mutated genes, including nuclear factor erythroid 2-related factor 2 (NFE2L2), catenin β1 (CTNNB1), MYCN, tumor protein p53, axis inhibition protein 1 (AXIN1) and adenomatous polyposis coli (APC) were associated with the pathogenesis of HB. During TMB and DNA mismatch repair status analyses, pediatric patients had a low TMB. All of them did not present with microsatellite instability. The immunohistochemical results indicated lower expression levels of PDL1 in HB. The complete remission (CR) rate of pediatric patients in the gene abnormality group was lower than that of the non-reported disease-associated gene abnormality group. The 2-year overall survival rate and disease-free survival rate of 19 pediatric patients with HB were 72.1% and 42.4%, respectively. Receiver operating characteristic (ROC) analysis demonstrated that CTNNB1, NFE2L2, AXIN1, APC, MYCN and insulin growth factor 2 (IGF2) may be potential biomarkers that could be used for the diagnosis of HB.ConclusionThe genotype changes in HB were more common and the CR rate of the pediatric patients with an altered genotype was lower than that of pediatric patients without an altered genotype. In addition, pediatric patients with HB exhibited lower TMB compared with adult patients. Moreover, the data indicated that CTNNB1, NFE2L2, AXIN1, APC, MYCN and IGF2 may be potential biomarkers that can be used for the diagnosis of HB.

Download Full-text