Background: Pediatric acute lymphoblastic leukemia (pALL) patients at King Abdulaziz Medical City represent a pure Saudi Arabian population. ETV6-RUNX1 positive pALL patients have good prognosis as compared to ETV6-RUNX1 negative counterparts. Therefore, frequencies of these two patient groups have a huge consideration in treatment strategies of pALL in a given population. Different geographical locations have been reported to have different frequencies of ETV6-RUNX1 ranging from 10% in Southeast Asia to 30% in Australia. Aim: Therefore, the objective of this study was to establish the ETV6-RUNX1 status of Saudi Arabian pALL patients and its association with clinical parameters and early remission. Materials and Methods: Clinical parameters and ETV6-RUNX1 status (using FISH technique) of pALL patients attending the Pediatric Oncology Clinic, King Abdulaziz Medical City, Riyadh from 2006 to 2011 were studied. Comparisons between ETV6-RUNX1 positive and negative groups were accomplished using chi-square test or Fisher's exact test. All statistical analyses were performed using SAS version 9.2 (SAS Institute, Inc., Cary, NC). Results: Out of 54 patients, 33 were male and 21 were females (ratio 1.57:1). B-and T-cell lineages were found in 47 (87%) and 7 (13%) patients respectively. Only 5 (9.3%) patients were ETV6-RUNX1 positive while 49(80.7%) were ETV6-RUNX1 negative. All ETV6-RUNX1 patients (100%) were of B-cell lineage and 80% (4/5) were in the 3-7 year age group. None of the ETV6-RUNX11 patients had ≥5% blasts (no remission) at day 14 as compared with 9% in the ETV6-RUNX1 negative group (Figure 1).Conclusions: Frequency of ETV6-RUNX1 positive patients (less than 10%) in our pALL patients is much lower than reported for most European countries, North America, Australia and Japan while it is in accordance with ETV6-RUNX1 frequencies from Egypt (11.6%), Pakistan (10%), Spain (2%) and India (5-7%). This shows ethnic differences in genetics of pALL as well as higher frequencies of ETV6-RUNX1 positive pALL mostly in more industrialized countries, probably due to some industrial pollutants or westernized lifestyle.
Introduction: Acute transverse myelitis is an uncommon inflammatory, intramedullary, disorder of the spinal cord. Spastic paraplegia, impaired sphincter functions, and sensory loss, with sensory level, are the clinical manifestations of this devastating disorder. The utilization of magnetic resonant imaging (MRI) contributes to the surge in the diagnosis of more ATM cases. Although the causes of ATM are numerous, both Mycoplasma pneumoniae and Schistosoma mansoni are uncommon causes and their co-existence in the same patient has not been reported before in Saudi Arabia. Case: We report a 25-year-old ATM male patient presented with a history of sudden onset severe low back pain. Within four hours from the onset of the back pain, he became completely paraplegic with impaired functions of the bowel and urinary bladder sphincter. Furthermore, he lost all modalities of sensory functions in the lower limbs. His examination revealed spastic complete paraplegia with sensory level at T6. Clinical neurological examination revealed normal upper limbs and brain functions. The MRI of the cervico-dorsal spine showed extensive longitudinal hyperintense lesion extending from the upper cervical segments to the lower dorsal segments (extensive longitudinal transverse myelitis). A post-infectious immune-mediated predisposition was highly suspected due to the very high titers of anti-Mycoplasma pneumoniae IgM and IgG that were detected. The immunosuppressant therapy did not improve his paraplegia. A spinal cord biopsy revealed the presence of several Schistosoma mansoni ova surrounded by chronic inflammatory reactions and reactive gliosis. Conclusions: Both Mycoplasma pneumoniae and Schistosoma mansoni should be investigated in cases with extensive longitudinal ATM.
ObjectiveSudden unexpected death in epilepsy (SUDEP) is a significant cause of mortality in people with epilepsy (PWE), with an incidence of 1 per 1000 members of the population. In Saudi Arabia, no data are available that inform local clinical practitioners about the attitudes of PWE regarding SUDEP. The aim of this study was to investigate the perspectives of Saudi PWE toward SUDEP and to assess their knowledge of SUDEP.MethodsA cross‐sectional questionnaire‐based study was conducted at the neurology clinics of King Abdul‐Aziz Medical City, Riyadh and Prince Sultan Military Medical City, Riyadh.ResultsOf the 377 patients who met the inclusion criteria, 325 completed the questionnaire. The mean age of the respondents was 32.9 ± 12.6 years. Of the study subjects, 50.5% were male. Only 41 patients (12.6%) had heard about SUDEP. Most patients (94.5%) wanted to know about SUDEP, of whom 313 (96.3%) wanted to receive this information from a neurologist. A total of 148 patients (45.5%) thought that the appropriate time to receive information about SUDEP was after the second visit, whereas only 75 (23.1%) wanted to learn about SUDEP during the first visit. However, 69 patients (21.2%) thought that the appropriate time to be informed about SUDEP was when seizure control had become more difficult. Almost half (172, 52.9%) of the patients thought that SUDEP could be prevented.SignificanceOur findings suggest that most Saudi PWE do not know about SUDEP and want to be counseled about their risk of SUDEP by their physicians. Therefore, education of Saudi PWE about SUDEP must be improved.
: Introduction: t(12; 21) leading to ETV6-RUNX1 fusion oncogene is associated with better prognosis and excellent treatment outcome in pediatric ALL (pALL) patients have good prognosis as compared to other genetic abnormalities1. Accordingly, frequency of ETV6-RUNX1 has a huge implication in treatment strategies of pALL in a given population. Different ethnic groups from various geographical regions have different frequencies of ETV6-RUNX1 ranging from 10% (Southeast Asia) to 33% (Australia) 2,3. Therefore, aim of this study was to determine ETV6-RUNX1 status of Saudi Arabian pALL patients and its association with clinical parameters and early remission. Patients & Methods: Pediatric Acute Lymphoblastic Leukemia (pALL) patients at King Abdulaziz Medical City represent pure Saudi Arabian population. Clinical parameters and ETV6-RUNX1 status (using FISH technique) of pALL patients attending Pediatric Oncology Clinic, King Abdulaziz Medical City Riyadh from 2006 to 2011 were studied using Vysis ETV6/RUNX1 DF FISH Probe Kit (Abbot Laboratories, Illinois, USA)4. CCG1991 protocol was used for standard risk patients while CCG1961 protocol was used for high risk patients. Number of blasts at day 14 and day 29 of the treatment were also calculated as a part of routine clinical follow-up.Comparison between ETV6-RUNX1 positive and negative groups done using chi-square test or Fisher's exact test. All Statistical analysis was performed using SAS version 9.2 (SAS Institute, Inc., Cary, NC). Results: Out of 54 patients, 33 were male and 21 were females (ration1.57:1). B- and T-cell lineage was found in 47 (87%) and 7 (13%) patients respectively. Only 5 (9.3%) patients with ETV6-RUNX1 positive while 49(80.7%) were ETV6-RUNX1 negative. All ETV6-RUNX1 patients (100%) were of B-cell lineage and 80% (4/5) were in 3-7 year age group. None of ETV6-RUNX11 patients had ≥5% blasts (no remission) at Day 14 as compared to 9% patients from ETV6-RUNX1 negative group (Table 1). Discussion: Frequency of ETV6-RUNX1 positive patients (less than 10%) in our pALL patients is much lower than reported in most of the European countries, North America, Australia and Japan while it is in accordance with ETV6-RUNX1 frequencies from Egypt (11.6%), Pakistan (10%), and India (5-7%) 2,3,5,6. This diversity in frequencies of ETV6-RUNX1 among pALL can be attributed to level of industrialization and/or westernized lifestyle. Moreover, ethnic differences in frequencies of this and other prognostically important genetic abnormalities can have a significant bearing on global pediatric ALL management strategies7 which necessitates further large scale studies in this regard. References: 1. Cooper SL, Brown PA. Treatment of pediatric acute lymphoblastic leukemia. Pediatr Clin North Am. 2015 Feb;62(1):61-73. 2. Iqbal Z. Molecular genetic studies on 167 pediatric ALL patients from different areas of Pakistan confirm a low frequency of the favorable prognosis fusion oncogene TEL-AML1 (t 12; 21) in underdeveloped countries of the region. Asian Pac J Cancer Prev. 2014;15(8):3541-6. 3. Amor DJ, Algar EM, Slater HR, Smith PJ. High frequency of t(12;21) in childhood acute lymphoblastic leukemia detected by RT-PCR. Pathology. 1998 Nov;30(4):381-5. 4. Vysis ETV6/RUNX1 DF FISH Probe Kit. https://www.abbottmolecular.com/vysis-etv6runx1-df-fish-probe-kit.html 5. Harbott J, Viehmann S, Borkhardt A, Henze G, Lampert F. Incidence of TEL/AML1 fusion gene analyzed consecutively in children with acute lymphoblastic leukemia in relapse. Blood. 1997 Dec 15;90(12):4933-7. 6. Shurtleff SA, Buijs A, Behm FG, Rubnitz JE, Raimondi SC, Hancock ML, Chan GC, Pui CH, Grosveld G, Downing JR. TEL/AML1 fusion resulting from a cryptic t(12;21)is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis. Leukemia. 1995 Dec;9(12):1985-9. 7. Weso³owska-Andersen A, Borst L, Dalgaard MD, Yadav R, Rasmussen KK, Wehner PS,et al. Genomic profiling of thousands of candidate polymorphisms predicts risk of relapse in 778 Danish and German childhood acute lymphoblastic leukemia patients. Leukemia. 2015 Feb;29(2):297-303. Disclosures Saglio: Novartis: Consultancy, Honoraria; BMS: Consultancy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.