فهرست مطالب mohammad faranoush
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مجله سازمان نظام پزشکی جمهوری اسلامی ایران، سال چهل و دوم شماره 2 (پیاپی 166، تابستان 1403)، صص 79 -83
سرطان کودکان یکی از چالش های بزرگ نظام های بهداشتی در سراسر جهان است و ایران نیز از این قاعده مستثنی نیست. از طرف دیگر، موارد متنوعی از بیماری های ارثی خونی و همچنین شیوع اختلالات خونریزی دهنده در کشور ما به واسطه ازدواج های فامیلی موجب گردیده تا بخش های ویژه ای در حوزه درمان برای حمایت از این بیماران خاص شکل بگیرد که این بخش ها نیاز مداوم به اطلاعات علمی برای تصمیم گیری و تصمیم سازی دارند. با افزایش میزان بروز سرطان در کودکان و نیاز مبرم به مراقبت های ویژه و پیشرفته، تشکل های مختلفی در ایران به منظور مقابله با این مشکل ایجاد شده اند. یکی از مهمترین این نهادها، انجمن علمی خون و سرطان کودکان ایران است که با 155 عضو پیوسته و تعداد قابل توجهی از اعضای وابسته با توزیع مناسب در مناطق مختلف کشور نقش مهمی در بهبود شرایط درمانی و حمایتی کودکان مبتلا به بیماری های خونی و سرطان دارد. این مقاله به بررسی تاریخچه، فعالیت ها و چالش های پیش روی این انجمن می پردازد.
Pediatric cancer is one of the major challenges faced by healthcare systems worldwide, and Iran is no exception. Additionally, the prevalence of various hereditary blood diseases and bleeding disorders in our country, often due to consanguineous marriages, has necessitated the establishment of specialized departments in the healthcare sector to support these particular patients. These departments continuously require scientific information for decision-making and policy formulation. With the rising incidence of childhood cancer and the urgent need for specialized and advanced care, various organizations have been established in Iran to address this issue. One of the most significant of these organizations is the Iranian Society of Pediatric Hematology and Oncology, which, with 155 active members and a considerable number of affiliate members distributed across the country, plays a crucial role in improving the medical and supportive care conditions for children with blood disorders and cancer. This article examines the history, activities, and challenges faced by this society.
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ObjectiveIntraocular retinoblastoma (RB) is common in kids. Although the cause of this disease is a mutation in theRB1 gene, the formed cancerous mass in different patients is seen in non-invasive states, limited to the ocular cavityor in invasive states distributed to other parts of the body. Because this tumor's aggressiveness cannot be predictedearly, these patients receive systemic chemotherapy with multiple drugs. Treating non-invasive and invasive tumorsseparately reduces chemical drug side effects. The aim of this study was to identify diagnostic biomarkers by separatingmiRNAs in blood serum from invasive and non-invasive RB patients.Materials and MethodsIn this experimental study, selected three gene expression omnibus (GEO) datasets. Twowere related to serum and tumor tissue miRNAs, and one was related to non-invasive and invasive RB gene expression.Examined RB gene-miRNA relationships. Then, we performed real-time polymerase chain reaction (PCR) on candidatemiRNAs in the Y79 cell line and patient blood samples in non-invasive and invasive retinoblastoma.ResultsFourteen high-expression and 7 low-expression miRNAs resulted. MiR-181, miR-135a, miR-20a, miR-373,and miR-191 were common genes with differential genes between invasive and non-invasive retinoblastoma. OnlyMiR-181 was upregulated in the Y79 RB cell line. Other candidate miRNAs expressed less. Invasive retinoblastomasincreased serum miR-20a and miR-191.ConclusionIntegrated and regular bioinformatics analyses found important miRNAs in patients’ and miR-20a, miR-191, and miR-135a can distinguish non-invasive and invasive retinoblastoma, suggesting further research.Keywords: Gene Expression Profiles, miRNAs, Non-invasive, Invasive, Retinoblastoma}
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Background
Chronic and debilitating diseases induce several psychiatric consequences. The current research determines the prevalence of depression in hemophilia patients.
MethodsThis is a cross-sectional study of 80 hemophilia patients referred to Mohammad Kermanshahi Hospital in Iran in 2020. The subjects were selected using the sampling method. The data collection tool includes a demographic information checklist, clinical and medical records, and Beck Depression Inventory-Second Edition (BDI-II). Data analysis was performed using frequency, percentage, and Chi-square tests.
ResultsThe results demonstrated that the prevalence of depression in hemophilia patients was 57.5%. Furthermore, the prevalence of depression was not associated with age, education, occupation, marital status, type of hemophilia, disease severity, age of onset (i.e., disease diagnosis age), orthopedic complications, and monthly bleeding episodes ( P-Values > 0.05). However, among the patients who consumed narcotics, only 25.8% were not depressed; on the other hand, 53.1% of those who did not consume narcotics were. A clear statistically significant correlation between narcotics use and the prevalence of depression was presented (P-Value < 0.01).
ConclusionsThe present study reveals a significant prevalence of depression among hemophilia patients, with a notable correlation observed between depression rates and the use of narcotics drugs.
Keywords: Prevalence, Depression, Mental Disorders, Hemophilia, Narcotics} -
The health-related quality of life and management of patients with thalassemia has significantly improved in recent years due to standard treatments and safe blood transfusions with effective chelation therapy to reduce iron overload. Transfusion-dependent thalassemia is associated with numerous skeletal abnormalities, including osteoporosis, which is a significant cause of morbidity in these patients. Osteoporosis is characterized by low bone mass and an increased risk of fractures, particularly in the lumbar spine and in patients with extramedullary hematopoiesis. It remains a significant problem in adult transfusion-dependent thalassemia, particularly in patients under chelation therapy. A fracture history is significantly associated with lower Dual-Energy X-ray Absorptiometry (DEXA) T/Z scores, which decrease with age. Improved management and modern treatments for transfusion-dependent thalassemia patients with osteoporosis should be prioritized to prevent bone fractures and improve quality of life in older age.
Keywords: Osteoporosis, Transfusion, Thalassemia, Bone mineral density, Fracture} -
Introduction:
Thalassemia, particularly α and β types, are characterized by mutations causing varied clinical manifestations such as anemia, skeletal deformities, and iron accumulation. Patients with transfusion-dependent thalassemia (TDTs) often face growth and puberty complications, which are influenced by the disease’s type and severity. These disruptions not only result from chronic anemia, iron chelation therapy, and endocrinopathies but also significantly impact the patient’s quality of life.
MethodsA comprehensive guideline was formulated through a systematic literature review and stakeholder engagements. The protocol emphasizes diagnosing and managing growth and puberty disorders in TDT patients, integrating consistent monitoring, documentation, and patient-specific assessments.
ResultsThe guideline proposes a detailed monitoring schedule from birth to adulthood, focusing on growth velocity norms and referral criteria to pediatric endocrinologists. It outlines protocols for hormone treatments in cases of delayed or arrested puberty, with distinctions for boys and girls. The treatment approach is multidisciplinary, combining growth monitoring, hormone therapy, and potential surgical interventions. The complexities demand continuous management, with treatment plans tailored to individual patient needs.
ConclusionsThe research provides a pivotal national protocol for addressing growth and puberty anomalies in TDT patients, aiming to enhance their well-being and standardize care. The emphasis on proactive, individualized strategies will bolster healthcare outcomes and reduce associated costs.
Keywords: Guideline, Growth, puberty, Transfusion Dependent Thalassemia, Iron Chelators} -
Thalassemia major hemoglobinopathy requires regular blood transfusions, often leading to iron overload due to repeated transfusions and increased intestinal iron absorption. The association between thalassemia major and metabolic complications, including diabetes and metabolic syndrome, has been recognized due to iron overload, insulin secretion impairment, insulin resistance, hepatic dysfunction, and other endocrine complications. These hormonal imbalances can also influence glucose metabolism and contribute to the development of metabolic syndrome. It's essential for individuals with thalassemia major to undergo regular monitoring of their glucose metabolism, including periodic assessments of fasting blood glucose, oral glucose tolerance tests, and measurement of Fructosamine. Early detection and management of diabetes and metabolic syndrome in thalassemia major patients are crucial to minimize complications and optimize overall health. Medical management may involve a combination of regular blood transfusions, iron chelation therapy to reduce iron overload, lifestyle modifications such as a healthy diet and physical activity, and, if needed, pharmacological interventions for glycemic control. Close collaboration between hematologists and endocrinologists is often necessary to provide comprehensive care for individuals with thalassemia major and metabolic complications.
Keywords: Thalassemia, Blood transfusion, Diabetes} -
Beta thalassemia is an inherited genetic disorder that often leads to transfusion dependence. One of the significant issues that these patients face is increased iron accumulation in their bodies due to the nature of the disease and regular blood transfusions. Iron overload can cause hemosiderosis and tissue damage in various organs, including the heart, liver, and endocrine systems. Endocrine problems are one of the most common complications in transfusion-dependent thalassemia, and addressing these complications can significantly improve patients' health-related quality of life. The prevalence of endocrinopathy is high, especially in patients with poor compliance with therapy. The most common endocrine disorders include hypogonadism, growth disturbances, short stature, delayed puberty, acquired hypothyroidism and hypoparathyroidism, adrenal dysfunction, osteoporosis, diabetes, fertility issues, and complications during pregnancy. Timely diagnosis and treatment of endocrine disorders can improve patients' quality of life and reduce social problems. This article reviews the literature on the various endocrine complications encountered in thalassemia.
Keywords: Iron overload, Endocrinopathy, Thalassemia, Blood transfusion} -
Background
Severe acute respiratorysyndromecoronavirus 2 (SARS-CoV-2) has led to the recent pandemic. According to published reports, respiratory symptoms, such as pneumonia and inflammatory conditions, are common in this disease.
ObjectivesThe current study aimed to investigate the level of antiphospholipid (aPL) antibodies in children with and without coronavirus disease 2019 (COVID-19).
MethodsThis descriptive-analytic cross-sectional study was conductedon patients under 16 years of age with and without COVID-19 admitted to Ali Asghar Hospital between December 2021 and February 2022. Patient information was collected by the researcher in a checklist. The checklist included demographic information, clinical findings, and information on laboratory and ultrasound results.
ResultsIn this study, 99 patients were evaluated in three groups: control (without COVID-19), moderate, and severe. The means (standard deviation [SD]) of C-reactive protein (CRP) and D-dimer were significantly higher in the severe group. The Pearson correlation coefficient test was used to examine the relationship between aPL and anticardiolipin (aCL) antibodies with laboratory results. The only significant and direct relationship was observed between aCL antibody and D-dimer.
ConclusionsIncreased CRP and D-dimer in children with COVID-19 are associated with the severe form of this serious disease. However, there was no significant association between the severity of the disease and the levels of aCL and aPL antibodies and anti-beta 2-glycoprotein I antibodies (a 2GPI) in children.
Keywords: Children, COVID-19, Antiphospholipid Antibody} -
The emergence of technology has long been a defining characteristic of human civilization, and in our current era, artificial intelligence (AI) stands as one of the most advanced innovations. Through the integration of AI into machines, the aim has been to unlock unprecedented levels of convenience. However, we now find ourselves at a crucial juncture where a significant question arises: Do humans continue to hold dominion, or have AI-equipped machines taken the reins? With its profound ability to reshape human capabilities, it is not surprising to propose that AI may represent the next stage of evolution. As we delve deeper into the potential of AI, it becomes imperative to ponder whether the emergence of AI as a form of evolved human beings is inevitable, and if so, what implications it may hold for the future of humanity. Taken together, it is essential for society to ensure the development and deployment of AI in a manner that prioritizes the safety and well-being of humanity while also giving careful consideration to ethical and legal concerns.
Keywords: Technology, Artificial intelligence (AI), Machine learning, Evolution} -
Background
Despite breakthroughs in the development of chemotherapy drugs to treat pediatric B-acute lymphoblastic leukemia (B-ALL), the relapse rate remains a major therapeutic challenge, requiring more detailed characterization of molecular elements underlying disease development and resistance to treatment. Checkpoint kinase 1 (CHK1) and checkpoint kinase 2 (CHK2) are two critical mediators of the DNA damage response (DDR) mechanism that activate the downstream components responsible for DNA repair, cell cycle regulation, and apoptosis. It has been shown that altered expression of CHK1 and CHK2 in various tumor entities promotes tumorigenesis and disease progression.
Materials and MethodsIn this case-control study, we evaluated the relative expression status of CHK1 and CHK2 genes in pediatric B-ALL patients at diagnosis (n=20), during complete remission (n=23) and relapse phase (n=10), as well as 20 peripheral blood samples from healthy children as a normal control group. The mRNA expression levels of CHK1 and CHK2 were determined by the Real-time PCR method. Data were compared using the Mann–Whitney U test for the relative expression level of target mRNA in different phases of B-ALL. Data were presented as median and statistical significance was described as a P-value less than 0.05.
ResultsOur results revealed that CHK1 expression increased in newly diagnosed patients than in healthy individuals (p ≤ 0.001). Relapsed patients had higher CHK1 expression than the newly diagnosed (p ≤ 0.05) and complete remission (p ≤ 0.001) counterparts. CHK2 was overexpressed in all phases of the diseases (p ≤ 0.001) without any significant alteration among the studied groups.
ConclusionGiven the CHK1 ability to endow cancer cells with a survival advantage upon chemotherapy, the present study suggests it as a potentially promising target in the fight against B-ALL.
Keywords: Acute lymphoblastic leukemia, Checkpoint kinase 1, Checkpoint kinase 2} -
Severe congenital neutropenias (SCNs) are the rare heterogenous group of preleukemia bone marrow failure syndromes characterized by impaired differentiation of neutrophilic granulocytes and, as a result, severe chronic neutropenia. Patients with SCN are predisposed to recurrent, often life-threatening bacterial and/or fungal infections beginning in the first months of life. Molecular abnormalities in 10 genes have been identified that are responsible for SCNs. The pathophysiological mechanisms of SCNs are the subject of extensive investigation and are not fully known. The current review aims to summarize the studies exploring the biological role of SCN-associated genes and the effects of mutant genes in neutropenia pathogenesis. We mainly focus on the genetic mutations that lead to SCN1 to SCN9 and X-linked SCN (XSCN) to shed more light on the pathophysiology of these diseases.
Keywords: Neutropenia, Severe congenital neutropenia, Kostmann syndrome, ELANE, HAX1} -
Iron overload can adversely affect thyroid and parathyroid function in patients with transfusion-dependent thalassemia. Iron deposition in both glands or the pituitary gland, which controls thyroid function, can lead to their destruction and dysfunction. Hypothyroidism can cause symptoms such as fatigue, weight gain, and depression, while hypoparathyroidism can cause symptoms such as numbness and tingling in the hands and feet, muscle cramps, and seizures. Regular thyroid and parathyroid function monitoring is essential in thalassemia patients to detect any dysfunction early and provide appropriate treatment. Treatment may include medications to replace thyroid hormone or calcium and vitamin D supplements to manage hypoparathyroidism. A comprehensive approach to managing endocrine complications in thalassemia patients can improve outcomes and quality of life for these individuals. To provide professional healthcare members with clear and concise recommendations for diagnosing and treating hypothyroidism and hypoparathyroidism in transfusion dependent thalassemia patients, a practical national guideline should be developed.
Keywords: Transfusion Dependent Thalassemia, Hypothyroidism, Hypoparathyroidism, Iron overload, Iron chelators} -
سابقه و هدف
خون و سرطان کودکان در زمره علومی است که با داشتن پژوهش های وسیع و متعدد در زمینه های مختلف در فواصل زمانی کوتاه دچار تغییرات و رشد تکاملی است. در این مطالعه بر اساس سرفصل های جدید هماتولوژی و آنکولوژی کودکان در دنیا و نظر اعضای هیات رئیسه و اعضای انجمن، کوریکولوم جدید تدوین شد.
مواد و روش هاپژوهش از نوع توصیفی پیمایشی است. جامعه آماری شامل اعضای هیات علمی انجمن خون و سرطان کودکان بود که در طراحی سوال با انجمن همکاری داشتند. بر اساس جدول مورگان شرکت کنندگان با روش تصادفی انتخاب شدند. مطالعه دارای دو گام کمی و کیفی بود که در سال 1400 انجام شد. اطلاعات توسط پرسش نامه محقق ساخته جمع آوری شد. موارد بررسی شده عبارت بودند از: فراگیری اصول طبابت نوین مثل طبابت مبتنی بر شواهد و استدلال بالینی فراگیری اصول اخلاق پزشکی، مهارت های مطالعه دروس، درک رویه های قانونی، توانایی تحقیقات و پژوهش و جستجوی الکترونیک، کفایت سرفصل های آموزشی، رضایت از آموزش اساتید، میزان وابستگی علمی به اساتید بعد از فارغ التحصیلی، نیاز به دوره های تکمیلی، روش فعلی ارزیابی فلوها، مهارت اعلام خبر بد، توانایی علمی اساتید متناسب برای تدریس مباحث فعلی، مشارکت در آموزش دستیاران. پرسش نامه ارزشیابی بر اساس مدل کرک پاتریک و بر اساس طیف لیکرت (خیلی زیاد تا خیلی کم) نمره گذاری شده بود. در بخش کیفی جمع آوری نظرات کمیته راهبردی انجمن خون و سرطان کودکان به روش بارش افکار انجام گرفت.
یافته هایافته ها دررابطه با میزان مطلوب بودن عوامل مورد ارزشیابی به دست آمد.
نتیجه گیریبازنگری در وضعیت موجود کوریکولوم آموزشی فلوی فوق تخصصی خون و سرطان کودکان باتوجه به نیازهای فعلی کشور امری ضروری و اجتناب ناپذیر است.
کلید واژگان: کوریکولوم آموزشی, خون و سرطان کودکان, آموزش پزشکی}Background and ObjectiveChildren's blood and cancer is one of the sciences that undergoes changes and evolutionary growth in a short period of time with extensive research in various fields. In this study, a new curriculum was compiled based on the new chapters of hematology and oncology of children in the world and the opinions of the board members and members of the association.
MethodsThe research is descriptive survey type. The statistical population includes members of the Children's Blood and Cancer Society faculty. They cooperated with the forum in designing the questions. Based on the Morgan table, the participants were selected by random method. The study had 2 phases, quantitative and qualitative, which was conducted in 1400. Information was collected from a researcher-made questionnaire. The examined items were: learning the principles of modern medicine such as evidence-based medicine and clinical reasoning, learning the principles of medical ethics, skills in studying courses, understanding legal procedures, the ability to research and electronic search, the adequacy of educational topics, satisfaction with the teaching of professors, the degree of scientific dependence on professors after graduation, the need for supplementary courses, the current method of evaluating the flu - the ability to report bad news, the scientific ability of professors to teach current topics, participation in the training of assistants). The evaluation questionnaire was scored based on the Kirkpatrick evaluation model and based on the Likert scale (very much, very little). The Cronbach's obtained was 0.92. The second phase was the collection of the strategic committee of the Children's Blood and Cancer Society by brainstorming.
FindingsFindings were obtained in relation to the degree of desirability of the evaluated factors.
ConclusionIt is necessary and inevitable to revise the current educational curriculum of the superspecialized blood and cancer children's education according to the country's current needs.
Keywords: Educational Curriculum, Pediatric Blood, Cancer, Medical Education} -
In this cross-sectional study, we aimed to evaluate epidemiologic data, survival, and prognosis of pediatric patients diagnosed with neuroblastoma who were referred to Mahak Pediatric Cancer Treatment and Research Center (MPCTRC). One-hundred thirty-seven children younger than 15 years with neuroblastoma from April 2008 to March 2020 were included in this study. Data were retrospectively extracted from their documents, and follow-up was done for alive individuals. Collected data were analyzed using SPSS software version 25 for parametric and non-parametric variables. Of all patients, 51.82% (n=71) were male (M/F ratio was 1.07:1) with a mean age of 2.48±0.26 years. According to the International Neuroblastoma Staging System (INSS), more than 70% of patients were diagnosed with stages 3, 4, and 4S. Primary tumors were located mostly in the adrenal glands (42.34%) and abdomen (29.20%), respectively. Additionally, 62% of children experienced metastasis, with the most common site being bone marrow. Moreover, patients' overall survival, progression-free survival, and event-free survival were 55.2%±5.6, 41.0%±7.9, and 30.0%±5.1, respectively. Early diagnosis and effective treatment of neuroblastoma can directly influence patients' survival, and those who are diagnosed with neuroblastoma within one month of its symptoms onset are more likely to have higher survival rates.
Keywords: Neuroblastoma, Pediatric oncology, Survival rates, Delayed diagnosis, treatment} -
Background
The ubiquitin-proteasome system (UPS) plays a crucial role in regulating the levels and functions of a large number of proteins in the cell, which are important for cancer cell growth and survival. The proteasome is highly activated in B-cell precursor acute lymphoblastic leukemia (BCP-ALL), which is the most common malignancy in children. The attempt to inhibit proteasome as a therapeutic strategy has been successful for some malignancies.
Materials and MethodsIn this experimental study, human BCP-ALL cell lines NALM-6 and SUP-B15 were treated with carfilzomib with and without the chemotherapeutic agents. The XTT assay evaluated the viability of the cells. Cell cycle analysis and apoptosis assay were assessed by flow cytometry. RQ-PCR and western blotting evaluated the expression of pro-/anti-apoptotic signals. A drug combination study for synergistic or additive effects of carfilzomib with doxorubicin or dexamethasone was performed.
ResultsWe observed that carfilzomib alone induced G2/M cell cycle arrest and caspase-dependent apoptosis in the human BCP-ALL cells (NALM-6 and SUP-B15). Gene and protein expression analysis indicated the upregulation of pro-apoptotic as well as downregulation of the cell survival and proliferative signals (P-value<0.05). The synergy of carfilzomib with doxorubicin or dexamethasone was revealed in BCP-ALL cells.
ConclusionOur results indicated that proteasome inhibition induces p53-mediated apoptosis in BCP-ALL cells. Since carfilzomib has a synergistic effect with anti-leukemic agents doxorubicin and dexamethasone in BCP-ALL cells, this combined-modality approach might be befitting for patients who do not respond well to conventional chemotherapy.
Keywords: Acute lymphoblastic leukemia, Carfilzomib, Dexamethasone, Doxorubicin, Proteasome} -
Background
Retinoblastoma (RB) is a common neoplastic disease in children, leading to high mortality if not diagnosed and treated timely. Mutations in both versions of the Retinoblastoma1 (RB1) gene are responsible for this disease. A wide range of mutations has been reported throughout the RB1 gene.
ObjectivesThe present study aimed to assess the concordance of paternal and maternal RB-1 gene mutation with clinical manifestation and disease staging in patients suffering from RB.
MethodsThis cross-sectional study was performed on 23 patients with unilateral or bilateral RB. Paternal and maternal peripheral blood samples were extracted for genome analysis. Information related to clinical manifestations and disease staging was collected from the patients’ hospital records. Multiplex-ligation dependent probe amplification (MLPA) method or Sanger sequencing method was employed to assess the gene mutation and its genomic pattern.
ResultsNo significant association was revealed between the presence of both maternal and paternal RB1 gene mutations and the disease staging, while the study could show a significant relationship between the presence and heterozygous pattern of RB1 gene mutation and the presence of disease-related clinical manifestations that bilateral involvement was strongly associated with the presence of a heterozygous pattern of gene mutation compared to unilateral involvement (P = 0.001).
ConclusionsThis study showed a significant correlation between the presence of RB1 gene mutation and bilateral involvement in RB, but the association between the disease staging and gene mutation remains insignificant.
Keywords: Phenotype, Retinoblastoma, Iran, Retinoblastoma-1 Gene, Mutation} -
Type 2 Griscelli syndrome (Type2 GS) is a primary inborn error of the immune system, classified in the immune dysregulation group.1,2 There are three different types of the disease, with different genetic causes responsible for the autosomal recessive inheritance pattern. Although hypopigmentation is common in all variants, neurological involvement or immunodeficiency with varying severity is seen in different types. Molecular motor protein myosin 5 an (MYo5A) [Type1GS], guanosine Triphosphate (GTP) binding protein (RAB27A) [Type2GS], and mutation in human melanophilin (MLPH) [Type 3GS] which is limited to hypopigmentation are reported as the known genetic defects in GS.3 Severe, ineffective, and uncontrolled inflammatory reactions are referred to as the pathogenesis of Hemophagocytic lymphohistiocytosis (HLH). HLH is a life-threatening condition that can be defined as either primary or secondary. Secondary causes happen in the context of autoimmunity, malignancy, spontaneous, or infections.4 Prenatal infections play an important role in causing long-term complications in the fetus. Some of them include toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms including syphilis, parvovirus, and Varicella zoster, known as TORCH syndrome (5).TORCH has been well described for a long time but there are limited reports of developing HLH in the context of prenatal infections. We described a type 2GS syndrome with neonatal-onset HLH triggered by a prenatal infection.
Keywords: Griscelli syndrome type 2, Hemophagocytic lymphohistiocytosis, Primary immunodeficiencydiseases} -
Purpose
To present primary ocular manifestations in acute leukemia.
MethodsThis cross-sectional descriptive hospital-based study evaluated all newly diagnosed leukemia patients of three referral hospitals of Tehran University of Medical Sciences in 2015–2016 and Mahak Hospital in Tehran in 2017. Exclusion criteria included the patients with the previous history of chemotherapy, cases of relapsing disease, and the patients with a history of ocular disease or other systemic conditions with ophthalmic manifestations.
ResultsA total of 85 patients (170 eyes) were evaluated in our study, including 29 children (34.1%) and 43 females (50.6%). The mean patient age was 37.84 ± 11.91 years in the adult group and 6.28 ± 4.70 years in the pediatric category. Ophthalmic involvement was seen in 27 patients (31.8%), including 6 pediatric patients (20.7%) and 21 adult patients (37.5%). Two patients (2.3%) had direct infiltration by leukemic cells and 76 patients (89.41%) of patients were asymptomatic. There was a correlation between ophthalmic involvement and platelet count and hemoglobin level. In patients with ocular signs, higher mortality rates were observed.
ConclusionsAt the time of diagnosis in acute leukemia patients, complete ophthalmic evaluation including dilated fundus examination is suggested as ocular involvement in these patients is common and sometimes asymptomatic. Ophthalmic involvement in leukemic patients should be identified in a timely manner, particularly in individuals with low platelet counts and hemoglobin levels, due to the potential prognostic relevance.
Keywords: Acute leukemia, Acute lymphoblastic leukemia, Acute myeloid leukemia, Leukemia, Ocular leukemic infiltration, Ophthalmicmanifestation} -
Background
Sleep habits may play a role in the onset of sleep disorders. Several factors affect sleep habits. This study aimed to investigate sleep habits and related factors in childhood cancer survivors (CCS).
Materials and MethodsThis cross-sectional study was performed on 400 children (age range: 5-15 years) who recovered from cancer in Tehran, Iran, in 2020. A 35-item Children's Sleep Habits Questionnaire (CSHQ) was used to determine children’s sleep habits. Correlation coefficient test, independent t-test, and one-way analysis of variance (ANOVA) were used to determine the correlation between results.
ResultsParticipants’ mean age was 10.45± 12.3 years (49% males vs. 51% females). The mean total score of the CSHQ was 58.53±7.8. There was a negative and significant relationship between age and the total score of CSHQ (P=0.009). Independent t-test showed that the subscales and the total score of the CSHQ were not significantly different between males and females (P=0.834). There was no significant relationship between the total score of the CSHQ and the duration after recovery (P=0.08).
ConclusionsThe CCS are at higher risk of sleep disorders and the possibility of sleep disorders is higher in younger patients. Girls and boys who have survived cancer are equally prone to sleep disorders. There is a possibility of developing sleep disorders at any time during the recovery period. Factors such as the family’s socioeconomic status, level of physical health, duration of cancer, and the age of the children should be considered when assessing and treating sleep problems in CCS.
Keywords: Cancer survivors, Child, Habits, Sleep} -
Background
The current research seeks to present a comparative study of the effect of filgrastim and pegfilgrastim in the treatment of fever and neutropenia in leukemia patients.
Materials and MethodsThe present study is a blind randomized clinical trial. The study population is comprised of 120 children with acute lymphoblastic leukemia (ALL) who were admitted to the hospital due to mild febrile neutropenia during 2019. Included patients were divided into two groups. Filgrastim (10 micrograms/ kilogram, daily subcutaneously) and pegfilgrastim (100 micrograms per kilogram of a subcutaneous dose) were used for groups, respectively. Fever monitored every 6 hours, and neutrophil count was performed every 48 hours. The questionnaire designed in the study included age, type of drug side effects, number of days of neutropenia, and fever cessation time. Then, the data were analyzed by SPSS software.
ResultLeukemic children with fever and neutropenia (N=120) were included in the study, which was 59 (49.1%) male and 61 (50.9%) female by the mean age of 79±44 months. The mean days of neutropenia correction in the filgrastim and pegfilgrastim groups were 5 and 4 days, respectively, which was not significantly different (p =0.08). There was no correlation between patients’ complications and types of treatments (p>0.05). Muscular pain was the most common complication observed among 4 cases and 1 case following filgrastim and pegfilgrastim administration, respectively. Furthermore, hyperleukocytosis following pegfilgrastim consumption was observed in two cases.
ConclusionThere was no significant correlation between the duration until the cessation of fever and the number of neutropenia days in the two groups receiving pegfilgrastim and filgrastim. Therefore, the fever and neutropenia improve with pegfilgrastim earlier than filgrastim; besides, fewer injections, patient comfort, and less musculoskeletal pain can be observed.
Keywords: Children, Febrile neutropenia, Filgrastim, Leukemia, Pegfilgrastim} -
International Journal of Hematology-Oncology and Stem Cell Research, Volume:16 Issue: 2, Apr 2022, PP 86 -93Background
The childhood cancer registry in Iran is a hospital-based system and there is not any unique and national registry system for pediatric malignancies in Iran. According to the limitations and requirements, this study was designed to clarify the aspect of childhood malignancies in Iran and promote establishing the Iranian national childhood cancer registry system.
Materials and MethodsThis cross-sectional longitudinal study was implied on 1500 patients younger than 20-years old diagnosed with any malignancy and admitted at MAHAK Pediatric Cancer Treatment and Research Center (MPCTRC) from 2007 to 2014. Data collection was based on a validated questionnaire with three categories including demographic data, clinical data and type of malignancy, and outcomes. Collected data were analyzed using methods for qualitative and quantitative variables (P-Value < 0.05) by SPSS software version 22. The survival rate was calculated by the Kaplan-Meyer method.
ResultsThis study was implied on 1500 children with a mean age of 6.1 years old. The most common malignancy was acute leukemia (30.7%) followed by central nervous system tumors (27%). At the onset of starting treatment, the rate of conferring with relapse, metastasis, and secondary malignancies was 29%, 19.5%, and 1% respectively. In addition, 52 patients had bone marrow transplantation of whom, 14 cases died. Totally, 42% of patients died and the 3-years, 5-years, and 10-years overall survival rates were 67.7% ± 0.01, 60.3% ± 0.01, and 53.8% ± 0.01, respectively.
ConclusionEstablishing a population-based pediatric cancer registry in Iran is necessary and will be useful for improving the survival rate of mentioned patients.
Keywords: Cancer registry, Iran, Pediatrics, Childhood cancer} -
Background
Educational evaluation is a broad concept that is related to all elements of the educational system. This concept is the result of the interaction of all values that are implemented with different titles and forms inside and outside the educational system to increase the performance of the educational system. The field of pediatric hematology and oncology is one that is constantly evolving due to extensive and numerous researches in various fields. These changes must be in line with changes in the health care delivery system. In this study, among the decision models, the CIPP model which is an evaluation model for curriculum evaluation given by Stufflebeam in 1983 which includes four elements: C- Context, I- Input, P- Process and P- Product., was selected to evaluate the educational curriculum of Iranian pediatric hematology and oncology fellowship.
MethodsThe present study has two quantitative and qualitative aspects and a quantitative cross-sectional, descriptive-analytical study. This analysis was conducted in 2021 by the strategic group of the Iranian pediatric hematology and oncology association. Its statistical population consisted of members of this association. Most members have a degree in pediatric hematology and oncology. The research was conducted by census method. Data were collected using a researcher-made questionnaire. In general, the training course was examined in 4 areas of education and research, hardware facilities of the training and current environment, and professional abilities other than the content of the course. The efficacy of the evaluation questionnaire of the Pediatric hematology and oncology fellowship course was a combination of open and closed questions based on the “Kirk Patrick evaluation model”. This questionnaire had 20 questions. The internal evaluation based on Cronbach’s alpha was 0.92. The items surveyed in the questionnaire were: learning modern medical principles such as evidence-based medicine and clinical reasoning, learning the principles of medical ethics, study skills, understanding of legal procedures, ability to electronically research and adequacy of educational subjects. Satisfaction of the faculty members, students ‘satisfaction and the need for supplementary courses, the current method of evaluating students’ communication skills, the scientific ability of the eligible faculty in teaching current topics and participation in educating the students were among the other items of the questionnaire.
ResultsIn the internal validity study, Cronbach’s alpha coefficient of 0.92 was obtained for the current situation and 0.96 for the optimal situation. Descriptive statistics (mean and standard deviation) and one-group and independent t-test were used to analyze the data. Findings indicated that there was a significant difference between the current and desired status of free and absentee university exams in the areas of purpose, design, implementation, modification and feedback and the three components of each of these axes. According to the obtained results, changing the current educational curriculum of the subspecialty fellowship in pediatric blood and cancer is necessary and inevitable.
ConclusionCorrective suggestions for writing a new curriculum in accordance with modern sciences and medical needs of the country were extracted and applied in the new curriculum.
Keywords: Educational curriculum, Pediatric hematology, oncology fellowship, Educational program, Medical education} -
Background
Glioblastoma multiforme is the most invasive and lethal form of brain cancer with unclear etiology. Our study aimed to investigate the molecular prevalence of human cytomegalovirus (HCMV) and Epstein-Barr virus (EBV) infections in patients with glioblastoma multiforme (GBM).
MethodsThis case-control study was conducted on 42 FFPE brain tumor samples from GBM patients and 42 brain autopsies from subjects without neurological disorders. The presence of EBV and HCMV DNA was determined, using PCR and nested-PCR assays, respectively.
ResultsHCMV DNA was detected in 3 out of 42 (7.1%) of GBM samples and was absent from the control group (p = 0.07). Importantly, EBV DNA was detected in 9 out of 42 (21.4%) brain tissue specimens of GBM subjects, but again in none of the control group (p = 0.001).
ConclusionOur findings indicate that infection with EBV is associated with GBM.
Keywords: Brain tumor, Epstein-Barr virus, Glioblastoma, Human cytomegalovirus} -
Background
Dysregulation of LncRNA antisense non-coding RNA in the INK4 locus (ANRIL) expression is implicated in pathogenesis and disease progression of a variety of cancer types. However, the expression level of ANRIL in pediatric patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) has not been elucidated, yet. The present study is an attempt to evaluate the expression level of ANRIL at different clinical stages in pediatric patients with BCP-ALL.
Materials and MethodsThis case-control study was conducted in Tehran, Iran on peripheral blood samples obtained at diagnosis, complete remission, and relapse phases from a total of 50 pediatric BCP-ALL patients who were admitted to Mahak Hospital and Rehabilitation Complex, and Rasul Akram Hospital. The ANRIL expression analysis was performed by the quantitative real-time polymerase chain reaction (qRT-PCR) method. To test the statistical significance, a nonparametric Mann-Whitney U test was used.
ResultsThe mean fold-changes of ANRIL gene expression in newly diagnosed patients were [31.51 (18.28 to 44.75)] compared to the control group [1.06 (0.73 to 1.38)] indicating significant overexpression (P<0.001). ANRIL fold-changes significantly declined following achievement of complete remission [1.24 (0.80 to 1.69)] compared to the newly diagnosed patients (p<0.001) and increased as the patients experienced relapse [285.4 (269.70 to 301) (P<0.001)].
ConclusionsLncRNA ANRIL may contribute to BCP-ALL pathogenesis and disease progression; casting new light on the application of ANRIL as a potential biomarker or therapeutic target in BCP-ALL.
Keywords: ANRIL long non-coding RNA, Gene expression, Precursor B-cell lymphoblastic leukemia} -
Idiopathic Thrombocytopenic Purpura (ITP) is a multifactorial disease with decreased count of platelet that can lead to bruising and bleeding manifestations. This study was intended to identify critical genes associated with chronic ITP. The gene expression profile GSE46922 was downloaded from the Gene Expression Omnibus database to recognize Differentially Expressed Genes (DEGs) by R software. Gene ontology and pathway analyses were performed by DAVID. The biological network was constructed by Cytoscape. Molecular Complex Detection (MCODE) was applied for detecting module analysis. Transcription factors were identified by the PANTHER classification system database and the gene regulatory network was constructed by Cytoscape. 132 DEGs were screened from comparison newly diagnosed ITP than chronic ITP. Biological process analysis revealed that the DEGs were enriched in terms of positive regulation of autophagy and prohibiting apoptosis in the chronic phase. KEGG pathway analysis showed that the DEGs were enriched in the ErbB signaling pathway, mRNA surveillance pathway, Estrogen signaling pathway, and Notch signaling pathway. Additionally, the biological network was established, and five modules were extracted from the network. ARRB1, VIM, SF1, BUB3, GRK5, RHOG were detected as hub genes that also belonged to the modules. SF1 also was identified as a hub-TF gene. To sum up, microarray data analysis could perform a panel of genes that provides new clues for diagnosing chronic ITP.Keywords: Idiopathic Thrombocytopenic Purpura, ITP, Microarray, Gene expression, Biomarkers, Bioinformatics, System biology}
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