Iranian Journal of Pediatric Hematology and Oncology
Volume:11 Issue: 2, Spring 2021

Microarray experiments can simultaneously determine the expression of thousands of genes. Identification of potential genes from microarray data for diagnosis of cancer is important. This study aimed to identify genes for the diagnosis of acute myeloid and lymphoblastic leukemia using a sparse feature selection method.

In this descriptive study, the expression of 7129 genes of 25 patients with acute myeloid leukemia (AML), and 47 patients with lymphoblastic leukemia (ALL) achieved by the microarray technology were used in this study. Then, the important genes were identified using a sparse feature selection method to diagnose AML and ALL tissues based on the machine learning methods such as support vector machine (SVM), Gaussian kernel density estimation based classifier (GKDEC), k-nearest neighbor (KNN), and linear discriminant classifier (LDC).

Diagnosis of ALL and AML was done with the accuracy of 100% using 8 genes of microarray data selected by the sparse feature selection method, GKDEC, and LDC. Moreover, the KNN classifier using 6 genes and the SVM classifier using 7 genes diagnosed AML and ALL with the accuracy of 91.18% and 94.12%, respectively. The gene with the description “Paired-box protein PAX2 (PAX2) gene, exon 11 and complete CDs” was determined as the most important gene in the diagnosis of ALL and AML.

The experimental results of the current study showed that AML and ALL can be diagnosed with high accuracy using sparse feature selection and machine learning methods. It seems that the investigation of the expression of selected genes in this study can be helpful in the diagnosis of ALL and AML.

Iron deficiency anemia (IDA) is the most common type of anemia related to malnutrition worldwide. It represents a major problem in developing countries, especially in Egypt. Ferric pyrophosphate (FPP) is a water-insoluble iron compound often used to fortify infant cereals and chocolate drink powders. It causes no adverse color and flavor changes to food vehicles. This study was done to compare the efficacy of FPP (micro dispersed iron) and ferrous sulfate (FS) in treating childhood IDA.

This prospective cohort study was conducted on 58 anemic children visiting the outpatient clinic, pediatric department of Menoufia University hospitals from March 2017 to June 2019. The inclusion criteria of the involved children were age 2 - 12 years and the diagnosis of IDA. Patients with other types of anemia were excluded from the study. Verbal permission was obtained from the parents of the children according to the ethical committee of Menoufia University. Patients were randomly divided into 2 groups. Group1 included 29 children who were treated with FPP and group2 included 29 children who were treated with oral traditional iron in the form of FS. Complete blood count and iron profile were recorded before and after 8 weeks of treatment.

The results showed no statistically significant difference between the FPP group and the FS group regarding clinical examinations (P-value > 0.05). There was no significant difference regarding hemoglobin, serum iron, and serum ferritin between the FPP and the FS groups after treatment (P-value> 0.05). However, side effects were significantly higher in the FS group (P-value > 0.001).

Micro dispersed iron could be used as an alternative therapy for children with IDA who refuse oral iron therapy in a liquid form with more tolerability and fewer side effects.

Acute lymphoblastic leukemia (ALL) affects both children and adults, with a peak incidence between the ages of 2 and 5 years. ALL cells sometimes penetrate the central nervous system (CNS) and patients with CNS diseases at initial presentation have been reported to experience a significantly greater risk of treatment failure compared with CNS negative patients. This study hypothesized that the prone position may reduce the CNS involvement compared with the supine position, therefore the aim of this study was to evaluate the role of supine and prone positions on CNS involvement in ALL patients.

This randomized clinical trial was conducted on 38 patients with ALL admitted in Shahid saddughi Hospital from 2006 to 2016. In this study, 14 patients received prophylaxis intrathecal chemotherapy with post-injection supine position (control group) and 22 patients received prophylaxis intrathecal chemotherapy with post-injection prone position (intervention group) White blood cell (WBC) count (CNS involvement) was evaluated in two groups.

Among 22 patients in the intervention group, 16 (72.7%) were males, and 6 (27.3%) were females and of the 14 patients in the control group, 8 (57.1%) were males and 6 (42.9%) were females. The difference in the mean WBCs in the cerebrospinal fluid between the two groups was as follows: the mean WBCs in the control group was 8.7143 and the mean WBCs in the intervention group was 4.9524. The difference between the two groups was statistically significant (P-value =0.039). However, no significant difference was seen between the two groups in terms of sex, age, and duration of disease (p>0.05).

The incidence of CNS involvement was significantly decreased when patients were placed in the post-puncture prone position for 3 hours.

One of the acute hematologic malignancies is acute promyelocytic leukemia (APL) that resulted in translocation of chromosomes 15 and 17, t (15; 17), and cessation in the maturation of myeloid cell line, and ultimate aggregation of neoplastic promyelocytes. Regarding that appetence of using herbal and marine medicine studies is increasing, and on the other hand, the features of Cassiopea andromeda Venom remained unclear; this study was conducted to determine its effects on NB4 cells as a model for APL.

In this experimental study, the cells were treated with C. andromeda Venom concentrations at different periods and times. Growth inhibition and toxic effects of C. andromeda Venom were evaluated through methyl thiazole tetrazolium salt reduction (MTT test). The flow cytometry analysis was carried out using 7AAD and Annexin V stains for evaluating this venom’s effect on apoptotic pathways. Besides, Real-Time polymerase chain reaction was performed to evaluate the relative gene expression.

C. andromeda Venom inhibited the growth of NB4 cells as correlated with concentration and time. Cell growth was inhibited by 49.1%, after 24 hours of treating NB4 cells with 1000µg/mL C. andromeda Venom. This venom increased the apoptotic process, which was then verified by 7AAD/AnnexinV staining. The fold change of p15INK4b, p21 WAF1/CIP1, P53, DNMT1, and Bcl-2 genes in the NB4 cell line were 144, 2.78, 1.75, 15.24, and 0.33, respectively, which meant that the expression level of p15INK4b, p21 WAF1/CIP1, P53, and DNMT1 were increased by 14400%, 278%, 175%, and 1524%, respectively and the expression of Bcl-2 was decreased by 67%.

Considering the inhibitory property of C. andromeda Venom, the authors recommended it as a part of combinational medication for treating APL in animal trials and for other leukemias’ in vitro studies.

Retinoblastoma (RB) is the most common intraocular malignancy in childhood. The aim of this study was to investigate the epidemiological features and survival rates of patients with RB in southwestern Iran.

This retrospective study was conducted on patients with RB referred to the only referral center of southwestern Iran from 2010 to 2018. Demographic characteristics at first symptom presentation, the time interval between the symptom presenting and the treatment, educational level, socioeconomic status, type of ocular symptoms, extra-ocular involvement, types of treatments, outcomes and follow-up, the treatment interval until death and the survival rate of the patient, and pathology reports were recorded and analyzed.

This study included 46 new patients with RB (25 boys and 21 girls) including 65.2% unilateral, 26.1% bilateral, and 8.7% trilateral involvements. The mean age at first symptom presentation was 18.98±16.16 months. The mean delay time was 2.48 (Interquartile range: 5.16) for boys and 3.02 (Interquartile range: 5.37) for girls (P = 0.265); death rate was significantly different for boys and girls (12.0 % versus 430%; P = 0.039). E-nucleation was done in 95.3% of cases. In 29% of patients the tumor was well-differentiated, and about 64.5% of the cases were pathologically graded at pathological tumor stages 3 or 4. At the time of the study, 54.3% of the patients were alive.  The mean survival time was 44.0 months.

Almost all cases were diagnosed in the advanced stages of the disease in Southwestern Iran. The disease is not preventable but early diagnosis improves the prognosis so we recommend that an eye examination at birth and designing and implementing prevention programs through parenting and child care personnel be performed in order to pay attention to early symptoms of the condition and in the absence of symptoms, screening should be done every six months.

CDKN2A, encoding two important tumor suppressor proteins p16 and p14, is a tumor suppressor gene. Mutations in this gene and subsequently the defect in p16 and p14 proteins lead to the downregulation of RB1/p53 and cancer malignancy. To identify the structural and functional effects of mutations, various powerful bioinformatics tools are available. The aim of this study is the identification of high-risk non-synonymous single nucleotide variants in the CDKN2A gene via bioinformatics tools.

Among the identified polymorphisms in this gene, 353 missense variants are retrieved from the national center for biotechnology information/single nucleotide polymorphism database (NCBI/dbSNP). Then, the pathogenicity of missense variants are considered using different bioinformatics tools. The stability of these mutant proteins, conservation of amino acids and the secondary and tertiary structural changes are analyzed by bioinformatics tools. After the identification of high-risk mutations, the changes in the hydrophobicity of high-risk amino acid substitutions are considered.

Deleterious single nucleotide polymorphisms (SNPs) were screened step by step using the bioinformatics tools. The results obtained from the set of bioinformatics tools identify high-risk mutations in CDKN2A gene.

18 high-risk mutations including L16R/Q, G23D/R/S, L32P, N42K, G55D, G67D/R, P81R, H83R, G89D/S, A102E, G101R, G122R, and V126D were identified. According to the previous experimental studies, the association of L16R, G23D/R/S, L32P, G67R, H83R, G89D, G101R, and V126D amino acid substitutions with various cancers has been confirmed.

Acute Kidney Injury (AKI) occurs if the kidneys suddenly lose their ability to remove waste products. When the kidneys lose their ability to filter, dangerous levels of waste products can accumulate, which can upset the chemical composition of the blood and urine. Chemotherapy is one of the methods used to treat or temporarily reduce cancer by using certain medications. The main task of this treatment is to kill cancer cells without seriously damaging the surrounding tissues. However, this type of treatment also has destructive effects on healthy cells and tissues in the body. Researchers studying cancer patients undergoing chemotherapy found that people undergoing this type of treatment may develop serious kidney problems and be forced to use treatments such as dialysis and kidney transplants. Research showed that people with more severe cancers and advanced tumors are more likely to have acute kidney injury than those with early-stage cancer. AKI biomarkers can be selected from the patientchr('39')s serum, urine, or body imaging components. Various studies showed that urine is a source of the best markers in AKI. Biomarkers in plasma and urine, such as N-acetyl-β-glucosaminidase, Cystatin-C, β2-microglobulin , Cysteine-Rich Protein, Osteopontin, Fetuin-A, Kidney Injury Molecule-1, Liver-type fatty acid-binding protein, Netrin-1, Neutrophil gelatinase-associated lipocalin, and interleukin-18 are effective tools for early detection of AKI. In this review study, an attempt was made to collect biomarkers related to AKI disease.

Diffuse leptomeningeal glioneuronal tumor is characterized by hydrocephalus, leptomeningeal involvement in the absence of a primary parenchymal mass, and negative cerebrospinal fluid (CSF) cytology. It is an extremely rare and difficult tumor to diagnose as no mass can be biopsied and it mimics infectious, rheumatologic, and inflammatory pathologies. An 11-year-old girl presented with complaints of headache, vomiting, and double vision. On examination, there was papilledema. Initial MRI scanning did not yield any significant findings. Clinical progression was observed in four months in the follow-ups. The symptoms included seizures, gait disturbances, and severely increased intracranial pressure. The screening of the patient for infectious, rheumatologic, endocrinologic, and inflammatory pathologies was normal. CSF pressure was elevated without any malignancy. Repeated cranial MRI revealed hydrocephalus and pituitary expansion. Leptomeningeal thickening and contrast enhancement were observed in spinal MRI. After a negative dural biopsy, the patient was diagnosed with a spinal leptomeningeal biopsy. The authors believed that the prevalence of this rare pediatric tumor, diagnosed with a leptomeningeal biopsy, is underestimated as it has an insidious course and signs of increased intracranial pressure in the absence of a definite solid mass.