Background Attention-deficit hyperactivity disorder (ADHD) is the most commonly diagnosed neurodevelopmental disorder of childhood that can profoundly affect the academic achievement, well-being, and social interactions of children. Different treatment modalities are used for the management of ADHD. Aim To determine the value of computerized cognitive training (CCT) programs in improving cognitive functions and core symptoms in ADHD children Patients and methods In this study, 60 school-aged children with ADHD were included for the purpose of establishing the effect of cognitive training sessions on the core symptoms of ADHD. Patients’ data were collected as follows: the age and sex of the patients, residence, parental consanguinity, family history, prenatal/perinatal history and data of general examination, and psychometric studies: ‘The diagnostic and statistical manual of mental disorder (DSM-V),’ ‘Conner’s Parent Rating Scale CPRS-93’ revised for assessment of the ADHD and associated comorbid disorders, and The Arabic version of ‘Stanford Binet intelligence test – 5th edition’ for assessment of intelligence quotient. Results A total number of 60 cases with ADHD who attended the Outpatient ADHD Clinic at AUCH were enrolled in the study. Among these, 66% were males, and the age variation was between 6 and 12 years among the three studied groups. All the children had an average intelligent quotient (IQ) more than or equal to 80. The mean intelligent quotient for the 60 studied children was 92.85±11.33. Pre-CCT assessment showed that there was no significant difference according to attention, concentration, hyperactivity, impulsivity, memory, and self-confidence between ADHD children of the three studied groups. There was significant improvement in comparison between the pre-CCT and post-CCT assessment among the three studied groups in regard to the core symptoms of ADHD, including attention and concentration (duration of attention and concentration, order of thinking, and learning from mistakes), hyperactivity (movement within chair, talking, and flight of ideas), topological memory (method of memorizing, recall), and reaction behavior (impulsivity and confidence). Conclusion From the present study, it was concluded that CCT training sessions are effective in improvement of ADHD core symptoms, including inattention hyperactivity, impulsivity, and memory deficits either with or without medical therapy. It results in improvement of confidence, duration and order of thinking, learning from mistakes, excessive movement, flight of ideas, and recall.
{"title":"Study of computerized cognitive training technique for treatment of children with attention deficit hyperactivity disorder: A new treatment modality experience","authors":"Hussien Abdeldaym, Nehad Zaki, Shimaa Anwar","doi":"10.4103/ajop.ajop_13_22","DOIUrl":"https://doi.org/10.4103/ajop.ajop_13_22","url":null,"abstract":"Background Attention-deficit hyperactivity disorder (ADHD) is the most commonly diagnosed neurodevelopmental disorder of childhood that can profoundly affect the academic achievement, well-being, and social interactions of children. Different treatment modalities are used for the management of ADHD. Aim To determine the value of computerized cognitive training (CCT) programs in improving cognitive functions and core symptoms in ADHD children Patients and methods In this study, 60 school-aged children with ADHD were included for the purpose of establishing the effect of cognitive training sessions on the core symptoms of ADHD. Patients’ data were collected as follows: the age and sex of the patients, residence, parental consanguinity, family history, prenatal/perinatal history and data of general examination, and psychometric studies: ‘The diagnostic and statistical manual of mental disorder (DSM-V),’ ‘Conner’s Parent Rating Scale CPRS-93’ revised for assessment of the ADHD and associated comorbid disorders, and The Arabic version of ‘Stanford Binet intelligence test – 5th edition’ for assessment of intelligence quotient. Results A total number of 60 cases with ADHD who attended the Outpatient ADHD Clinic at AUCH were enrolled in the study. Among these, 66% were males, and the age variation was between 6 and 12 years among the three studied groups. All the children had an average intelligent quotient (IQ) more than or equal to 80. The mean intelligent quotient for the 60 studied children was 92.85±11.33. Pre-CCT assessment showed that there was no significant difference according to attention, concentration, hyperactivity, impulsivity, memory, and self-confidence between ADHD children of the three studied groups. There was significant improvement in comparison between the pre-CCT and post-CCT assessment among the three studied groups in regard to the core symptoms of ADHD, including attention and concentration (duration of attention and concentration, order of thinking, and learning from mistakes), hyperactivity (movement within chair, talking, and flight of ideas), topological memory (method of memorizing, recall), and reaction behavior (impulsivity and confidence). Conclusion From the present study, it was concluded that CCT training sessions are effective in improvement of ADHD core symptoms, including inattention hyperactivity, impulsivity, and memory deficits either with or without medical therapy. It results in improvement of confidence, duration and order of thinking, learning from mistakes, excessive movement, flight of ideas, and recall.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"1 1","pages":"8 - 18"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90923944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background In Egypt, it has been established that the most frequently inherited disorder of hemoglobin is β-thalassemia. Management of the severe forms of this disorder consists chiefly of red cell transfusion. The concerned patients receive these transfusions on a regular basis. Therefore, the formation of antired cell alloantibodies and autoantibodies was inevitable. This dilemma is addressed in this study that aims to determine the prevalence of red cell alloimmunization among transfusion-dependent ß-thalassemia children that receive frequent care in the Hematology Clinic of Alexandria University Children’s Hospital. Patients and methods This study screened 100 transfusion-dependent patients in total, all of them were 3–16 years old. Transfusion and clinical records of the latter were reviewed to assess the diagnosis of β-thalassemia, the age of the first presentation, the age at which transfusion therapy was started, transfusion interval, and the number of red cell units given. Alloantibody detection was then performed. Results In the present study, 11 (11%) out of the total 100 studied patients were alloimmunized. The total number of alloantibodies identified in these patients was 25. Two patients (18%) had only one alloantibody, six patients (54.5%) had two alloantibodies, one patient (9%) had three alloantibodies, and two patients (18%) had more than three alloantibodies. The most prevalent antibodies belonged to Kell and Rh blood-group systems (seven out of 25 each). Conclusions When it comes to thalassemia patients dependent on blood transfusion, red blood cell alloimmunization is a difficult complication. Kell and RH blood-group-system antibodies are the predominant antibodies. Formation of alloantibodies depends mainly on the nature of red cell units received and donor and recipient factors. These can explain the difference in alloimmunization rates in different reports. Avoidance of alloimmunization would decrease the cost of treatment on the long run and improve the patient quality of life.
{"title":"Red cell alloimmunization in transfusion-dependent β-thalassemia patients attending Alexandria University Children Hospital","authors":"Nehad Hassanein, Bothaina El-Domiaty, Rovaida El-Fawal, Nevien Mikhail","doi":"10.4103/ajop.ajop_5_22","DOIUrl":"https://doi.org/10.4103/ajop.ajop_5_22","url":null,"abstract":"Background In Egypt, it has been established that the most frequently inherited disorder of hemoglobin is β-thalassemia. Management of the severe forms of this disorder consists chiefly of red cell transfusion. The concerned patients receive these transfusions on a regular basis. Therefore, the formation of antired cell alloantibodies and autoantibodies was inevitable. This dilemma is addressed in this study that aims to determine the prevalence of red cell alloimmunization among transfusion-dependent ß-thalassemia children that receive frequent care in the Hematology Clinic of Alexandria University Children’s Hospital. Patients and methods This study screened 100 transfusion-dependent patients in total, all of them were 3–16 years old. Transfusion and clinical records of the latter were reviewed to assess the diagnosis of β-thalassemia, the age of the first presentation, the age at which transfusion therapy was started, transfusion interval, and the number of red cell units given. Alloantibody detection was then performed. Results In the present study, 11 (11%) out of the total 100 studied patients were alloimmunized. The total number of alloantibodies identified in these patients was 25. Two patients (18%) had only one alloantibody, six patients (54.5%) had two alloantibodies, one patient (9%) had three alloantibodies, and two patients (18%) had more than three alloantibodies. The most prevalent antibodies belonged to Kell and Rh blood-group systems (seven out of 25 each). Conclusions When it comes to thalassemia patients dependent on blood transfusion, red blood cell alloimmunization is a difficult complication. Kell and RH blood-group-system antibodies are the predominant antibodies. Formation of alloantibodies depends mainly on the nature of red cell units received and donor and recipient factors. These can explain the difference in alloimmunization rates in different reports. Avoidance of alloimmunization would decrease the cost of treatment on the long run and improve the patient quality of life.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"54 1","pages":"26 - 32"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87952165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Sedky, H. Assem, A. Bedewy, N. Adel, Maha H. Yousef
Background β-thalassemia (βT) has a wide spectrum of clinical severity that may be attributed to the wide variations in βT gene mutations. β-Globin mutations with the Xmn-I site might be associated with elevated fetal hemoglobin levels, which in turn may affect the severity of βT phenotype. Aim To investigate the frequency of Xmn-I polymorphism (−158 C>T) among Egyptian children with βT, and to examine the relationship between Xmn-I polymorphism and βT phenotypes. Patients and methods This cross-sectional study was conducted on 112 βT patients (55 males and 57 females) with a mean age of 8.34±3.71 years (2–16 years). Laboratory investigations included complete blood count, hemoglobin electrophoresis, β-globin mutation, identification of Xmn-I polymorphism by two methods: PCR–restriction fragment length polymorphism and amplification refractory mutation system. Results All patients (76 with βT major and 36 with βT intermedia) were negative for the Xmn-I SNP whether in homozygous (+/+) or heterozygous (+/−) state. Conclusion This study demonstrated that Xmn-I polymorphism was not detected in the studied patients and this supports the low frequency of this polymorphism in other Egyptian studies.
{"title":"Study of Xmn-I polymorphism in β-thalassemic children in Egypt","authors":"A. Sedky, H. Assem, A. Bedewy, N. Adel, Maha H. Yousef","doi":"10.4103/ajop.ajop_35_21","DOIUrl":"https://doi.org/10.4103/ajop.ajop_35_21","url":null,"abstract":"Background β-thalassemia (βT) has a wide spectrum of clinical severity that may be attributed to the wide variations in βT gene mutations. β-Globin mutations with the Xmn-I site might be associated with elevated fetal hemoglobin levels, which in turn may affect the severity of βT phenotype. Aim To investigate the frequency of Xmn-I polymorphism (−158 C>T) among Egyptian children with βT, and to examine the relationship between Xmn-I polymorphism and βT phenotypes. Patients and methods This cross-sectional study was conducted on 112 βT patients (55 males and 57 females) with a mean age of 8.34±3.71 years (2–16 years). Laboratory investigations included complete blood count, hemoglobin electrophoresis, β-globin mutation, identification of Xmn-I polymorphism by two methods: PCR–restriction fragment length polymorphism and amplification refractory mutation system. Results All patients (76 with βT major and 36 with βT intermedia) were negative for the Xmn-I SNP whether in homozygous (+/+) or heterozygous (+/−) state. Conclusion This study demonstrated that Xmn-I polymorphism was not detected in the studied patients and this supports the low frequency of this polymorphism in other Egyptian studies.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"93 1","pages":"193 - 202"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75929070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337831
Y. El Chazli, M. Salama, Samar El-leboody, Asmaa Elsharkawy, H. Hassouna
Background Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition that shares common features with severe sepsis. This study aimed to report the number of children with suspected HLH in a pediatric intensive care unit (PICU) and to compare clinical and laboratory criteria of patients who met the HLH criteria versus those who did not meet HLH criteria to determine the red flags suggesting HLH. Patients and methods This retrospective study included all patients admitted to the PICU of the Alexandria University Children’s Hospital in Egypt, over four years from January 2016 to December 2019. Patients were screened for the presence of fever, splenomegaly, and cytopenias; if positive, they were considered as clinically suspected HLH and included in the study. Results Among 1056 patients admitted to PICU during the study period, 54 (5.1%) patients have been identified as clinically suspected HLH. Patients’ ages ranged between 1 and 156 months with a median of 17 months. According to HLH-2004 diagnostic criteria, hyperferritinemia was present in all tested patients, hypertriglyceridemia in 63.8%, hypofibrinogenemia in 47.6%, hemophagocytosis in 25%, and elevated soluble CD25 in 84.6%. Seventeen patients (31.5%) fulfilled greater than or equal to 5 HLH-2004 diagnostic criteria, although only 13 (24.1%) patients were fully investigated. The Hscore was higher in patients meeting HLH criteria (P<0.001), but the Pediatric Logistic Organ Dysfunction 2 score was lower (P=0.08). The overall mortality was 63%; more patients (76.5%) died in the HLH group (P=0.16) with a shorter median PICU stay (P=0.03). Conclusion The present study reported the clinical characteristics of children with clinically suspected HLH in a central PICU from a low–middle-income country. HLH was not adequately investigated in PICU patients, and the mortality rate was high. Raising awareness about HLH among PICU physicians is mandatory to minimize missing the diagnosis of HLH.
{"title":"Hemophagocytic lymphohistiocytosis: a missed diagnosis in pediatric intensive care units","authors":"Y. El Chazli, M. Salama, Samar El-leboody, Asmaa Elsharkawy, H. Hassouna","doi":"10.4103/1687-9945.337831","DOIUrl":"https://doi.org/10.4103/1687-9945.337831","url":null,"abstract":"Background Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition that shares common features with severe sepsis. This study aimed to report the number of children with suspected HLH in a pediatric intensive care unit (PICU) and to compare clinical and laboratory criteria of patients who met the HLH criteria versus those who did not meet HLH criteria to determine the red flags suggesting HLH. Patients and methods This retrospective study included all patients admitted to the PICU of the Alexandria University Children’s Hospital in Egypt, over four years from January 2016 to December 2019. Patients were screened for the presence of fever, splenomegaly, and cytopenias; if positive, they were considered as clinically suspected HLH and included in the study. Results Among 1056 patients admitted to PICU during the study period, 54 (5.1%) patients have been identified as clinically suspected HLH. Patients’ ages ranged between 1 and 156 months with a median of 17 months. According to HLH-2004 diagnostic criteria, hyperferritinemia was present in all tested patients, hypertriglyceridemia in 63.8%, hypofibrinogenemia in 47.6%, hemophagocytosis in 25%, and elevated soluble CD25 in 84.6%. Seventeen patients (31.5%) fulfilled greater than or equal to 5 HLH-2004 diagnostic criteria, although only 13 (24.1%) patients were fully investigated. The Hscore was higher in patients meeting HLH criteria (P<0.001), but the Pediatric Logistic Organ Dysfunction 2 score was lower (P=0.08). The overall mortality was 63%; more patients (76.5%) died in the HLH group (P=0.16) with a shorter median PICU stay (P=0.03). Conclusion The present study reported the clinical characteristics of children with clinically suspected HLH in a central PICU from a low–middle-income country. HLH was not adequately investigated in PICU patients, and the mortality rate was high. Raising awareness about HLH among PICU physicians is mandatory to minimize missing the diagnosis of HLH.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"1 1","pages":"211 - 218"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80402182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337829
T. Babu, Penta Rakesh, Arundhathi Shankaralingappa
{"title":"Starting empirical iron therapy for children diagnosed clinically with anemia – a double-edged sword!","authors":"T. Babu, Penta Rakesh, Arundhathi Shankaralingappa","doi":"10.4103/1687-9945.337829","DOIUrl":"https://doi.org/10.4103/1687-9945.337829","url":null,"abstract":"","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"7 1","pages":"265 - 266"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74710589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337833
A. El-Beheiry, T. Omar, A. Abougabal
Background Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. It is diagnosed based on a group of clinical criteria that were established by the National Institute of Health in 1988, yet, NF1 remains a challenging disorder to diagnose, mainly in the pediatric-age group. Aim The purpose of this study was to highlight the different MRI findings encountered in the brain of NF1 pediatric patients in order to evaluate if some of these findings can be added to the diagnostic criteria of NF1 and to assess the role of MR spectroscopy in differentiating non-neoplastic from tumefactive neoplastic lesions. Patients and methods This study was a single-center retrospective review of available brain MRIs from 40 children with NF1 in the period from June 2018 to January 2020. MRI examinations were done on a 1.5-Tesla MRI scanner. Magnetic resonance spectroscopy (MRS) was done in selected cases to differentiate foci of abnormal signal intensity (FASI) from neoplastic tumefactive lesions and assess the grade of such neoplastic masses. Results The studied group included 23 females (57.5%) and 17 males (42.5%) with mean age of 7.4±4.4 years. The findings encountered in MRI included FASI in all 40 patients (100%), brain neoplastic lesions in 24 patients (52.5%),18 of which were optic pathway gliomas and six were nonoptic gliomas, while five patients (12.5%) showed thickened corpus callosum. MRS was significantly different in tumefactive neoplastic lesions from FASI with elevated choline and reduced N-acetyl aspartate (NAA) in the former. Choline/creatine, NAA/choline, and NAA/creatine ratios were 3.7±0.93, 0.20±0.17, and 0.37±0.06, respectively, in neoplastic lesions compared with 0.74±0.13, 1.5±0.18, and 1.5±0.13, respectively, in FASI. Conclusion Pediatric neuroradiologists should be familiar with the different pathologies encountered within the brain of NF1 patients, not just obvious optic pathway gliomas, but more importantly the underlooked FASI. We recommend that these FASI should be included in the diagnostic criteria for NF1. MRS is also recommended to differentiate questionable tumefactive neoplastic lesions from FASI.
{"title":"The many faces of neurofibromatosis type 1 in the pediatric brain","authors":"A. El-Beheiry, T. Omar, A. Abougabal","doi":"10.4103/1687-9945.337833","DOIUrl":"https://doi.org/10.4103/1687-9945.337833","url":null,"abstract":"Background Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. It is diagnosed based on a group of clinical criteria that were established by the National Institute of Health in 1988, yet, NF1 remains a challenging disorder to diagnose, mainly in the pediatric-age group. Aim The purpose of this study was to highlight the different MRI findings encountered in the brain of NF1 pediatric patients in order to evaluate if some of these findings can be added to the diagnostic criteria of NF1 and to assess the role of MR spectroscopy in differentiating non-neoplastic from tumefactive neoplastic lesions. Patients and methods This study was a single-center retrospective review of available brain MRIs from 40 children with NF1 in the period from June 2018 to January 2020. MRI examinations were done on a 1.5-Tesla MRI scanner. Magnetic resonance spectroscopy (MRS) was done in selected cases to differentiate foci of abnormal signal intensity (FASI) from neoplastic tumefactive lesions and assess the grade of such neoplastic masses. Results The studied group included 23 females (57.5%) and 17 males (42.5%) with mean age of 7.4±4.4 years. The findings encountered in MRI included FASI in all 40 patients (100%), brain neoplastic lesions in 24 patients (52.5%),18 of which were optic pathway gliomas and six were nonoptic gliomas, while five patients (12.5%) showed thickened corpus callosum. MRS was significantly different in tumefactive neoplastic lesions from FASI with elevated choline and reduced N-acetyl aspartate (NAA) in the former. Choline/creatine, NAA/choline, and NAA/creatine ratios were 3.7±0.93, 0.20±0.17, and 0.37±0.06, respectively, in neoplastic lesions compared with 0.74±0.13, 1.5±0.18, and 1.5±0.13, respectively, in FASI. Conclusion Pediatric neuroradiologists should be familiar with the different pathologies encountered within the brain of NF1 patients, not just obvious optic pathway gliomas, but more importantly the underlooked FASI. We recommend that these FASI should be included in the diagnostic criteria for NF1. MRS is also recommended to differentiate questionable tumefactive neoplastic lesions from FASI.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"20 1","pages":"219 - 228"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83695063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337830
Dina Ata, Mohy Awad, M. Eid, K. Elshafey, Ola Taha
Objective The aim was to explore the possible association of the PNPLA3/adiponutrin I148M gene variant with nonacholic fatty liver disease (NAFLD) and its severity in overweight and obese Egyptian children and adolescents as such reports are lacking in Egyptian population. Participants and methods In total, 80 overweight and obese NAFLD children and 40 healthy controls were subjected to clinical assessment, laboratory assessment, and genotyping assay for PNPLA3-I148M gene variant. Results There were no significant differences in the distribution of genotypes of the PNPLA3-I148M gene variant between the studied NAFLD patients and controls. In NAFLD children, 62 (77.5%) cases were CC genotype (homozygous for the wild allele), 12 (15%) cases were CG genotype (heterozygous for the risk allele), and six cases (7.5%) were GG genotype (homozygous for the risk allele). The frequency of the C allele (the common allele) was 85%, whereas the frequency of the G allele (the risk allele) was 15%. There was significant increase in mean values of alanine aminotransferase and gamma-glutamyl transferase (P<0.05) and significant increase in the frequency of patients with higher grades of steatosis among the NAFLD patients who were homozygous or heterozygous for the risk G allele (GG and CG genotypes) compared with those with no G allele (wild CC genotype). There were significant positive correlations between PNPLA3-I148M gene variant and obesity indicators among NAFLD children. Conclusions Polymorphisms in the PNPLA3-I148M gene variant may not contribute to NAFLD susceptibility in Egyptian children due to ethnic differences. However, the presence of polymorphisms in the PNPLA3-I148M gene variant may get worse in liver enzymes (alanine aminotransferase and gamma-glutamyl transferase) and grades of steatosis in NAFLD patients.
{"title":"PNPLA3/adiponutrin I148M gene variant in nonalcoholic fatty liver disease in Egyptian children and adolescents","authors":"Dina Ata, Mohy Awad, M. Eid, K. Elshafey, Ola Taha","doi":"10.4103/1687-9945.337830","DOIUrl":"https://doi.org/10.4103/1687-9945.337830","url":null,"abstract":"Objective The aim was to explore the possible association of the PNPLA3/adiponutrin I148M gene variant with nonacholic fatty liver disease (NAFLD) and its severity in overweight and obese Egyptian children and adolescents as such reports are lacking in Egyptian population. Participants and methods In total, 80 overweight and obese NAFLD children and 40 healthy controls were subjected to clinical assessment, laboratory assessment, and genotyping assay for PNPLA3-I148M gene variant. Results There were no significant differences in the distribution of genotypes of the PNPLA3-I148M gene variant between the studied NAFLD patients and controls. In NAFLD children, 62 (77.5%) cases were CC genotype (homozygous for the wild allele), 12 (15%) cases were CG genotype (heterozygous for the risk allele), and six cases (7.5%) were GG genotype (homozygous for the risk allele). The frequency of the C allele (the common allele) was 85%, whereas the frequency of the G allele (the risk allele) was 15%. There was significant increase in mean values of alanine aminotransferase and gamma-glutamyl transferase (P<0.05) and significant increase in the frequency of patients with higher grades of steatosis among the NAFLD patients who were homozygous or heterozygous for the risk G allele (GG and CG genotypes) compared with those with no G allele (wild CC genotype). There were significant positive correlations between PNPLA3-I148M gene variant and obesity indicators among NAFLD children. Conclusions Polymorphisms in the PNPLA3-I148M gene variant may not contribute to NAFLD susceptibility in Egyptian children due to ethnic differences. However, the presence of polymorphisms in the PNPLA3-I148M gene variant may get worse in liver enzymes (alanine aminotransferase and gamma-glutamyl transferase) and grades of steatosis in NAFLD patients.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"144 1","pages":"203 - 210"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88790032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337835
M. Zedan, A. Darwish, M. Wassefy, E. Khashaba, Engy Osman, A. Osman, Nesma Ellithy
Background Asthma is a chronic inflammatory airway disease characterized by episodic reversible airway obstruction. Regarding asthma pathogenesis, two eotaxin polymorphisms were found to be associated with asthma and high serum total immunoglobulin (Ig)E levels, correspondingly. Objective This study was done to explore the association between the underlying gene polymorphisms in chemokine receptor 3 (CCR3) and symptom-based clinical asthma phenotypes among the studied group. Patients and methods This was a case–control study conducted on 60 asthmatic patients with different clinical phenotypes who were compared with 100 healthy controls of matched age and sex. The included asthmatic children aged from 6 to 16 years old and were diagnosed according to the criteria of GINA 2020 by the presence of typical asthma symptoms and with confirmed variable expiratory airflow obstruction. We excluded asthmatic patients with comorbidities. Results A total of 60 asthmatic cases with different clinical phenotypes were compared with 100 healthy controls, and the outcomes showed that total serum IgE had a significant increase in asthmatic cases versus controls. There were no statistically significant differences regarding CCR3 T51C genotype or its allelic polymorphism frequency. There was no clinical significance found correlating eosinophilic percent and serum IgE and CCR3 T51C gene polymorphism in both asthmatic cases and control. There was no statistical significance correlating eosinophilic count, eosinophilic percent, and total serum IgE with different clinical asthma phenotypes. Conclusion Total serum IgE was demonstrated to be significantly increased among asthmatic cases; however, there were no statistically significant differences regarding CCR3 T51C genotype or its allelic polymorphism frequency. Eosinophilic percent and serum IgE and CCR3 T51C gene polymorphism seemed to be comparable among asthmatic cases and controls. Moreover, no significant correlation was detected associating eosinophilic count, eosinophilic percent, and total serum IgE with different clinical asthma phenotypes.
{"title":"Association between the chemokine receptor 3 gene polymorphism and clinical asthma phenotypes among Egyptian asthmatic children","authors":"M. Zedan, A. Darwish, M. Wassefy, E. Khashaba, Engy Osman, A. Osman, Nesma Ellithy","doi":"10.4103/1687-9945.337835","DOIUrl":"https://doi.org/10.4103/1687-9945.337835","url":null,"abstract":"Background Asthma is a chronic inflammatory airway disease characterized by episodic reversible airway obstruction. Regarding asthma pathogenesis, two eotaxin polymorphisms were found to be associated with asthma and high serum total immunoglobulin (Ig)E levels, correspondingly. Objective This study was done to explore the association between the underlying gene polymorphisms in chemokine receptor 3 (CCR3) and symptom-based clinical asthma phenotypes among the studied group. Patients and methods This was a case–control study conducted on 60 asthmatic patients with different clinical phenotypes who were compared with 100 healthy controls of matched age and sex. The included asthmatic children aged from 6 to 16 years old and were diagnosed according to the criteria of GINA 2020 by the presence of typical asthma symptoms and with confirmed variable expiratory airflow obstruction. We excluded asthmatic patients with comorbidities. Results A total of 60 asthmatic cases with different clinical phenotypes were compared with 100 healthy controls, and the outcomes showed that total serum IgE had a significant increase in asthmatic cases versus controls. There were no statistically significant differences regarding CCR3 T51C genotype or its allelic polymorphism frequency. There was no clinical significance found correlating eosinophilic percent and serum IgE and CCR3 T51C gene polymorphism in both asthmatic cases and control. There was no statistical significance correlating eosinophilic count, eosinophilic percent, and total serum IgE with different clinical asthma phenotypes. Conclusion Total serum IgE was demonstrated to be significantly increased among asthmatic cases; however, there were no statistically significant differences regarding CCR3 T51C genotype or its allelic polymorphism frequency. Eosinophilic percent and serum IgE and CCR3 T51C gene polymorphism seemed to be comparable among asthmatic cases and controls. Moreover, no significant correlation was detected associating eosinophilic count, eosinophilic percent, and total serum IgE with different clinical asthma phenotypes.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"32 1","pages":"237 - 242"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75361134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337834
S. Imbaby, Y. El Chazli, Nermeen Eldabah
Background Beta-thalassemia (BT) is the most prevalent inherited hemoglobin disorder in Egypt. MicroRNA-451 (miR-451), an erythroid cell-specific miRNA, is upregulated during erythroid maturation and suggested to be a hemolytic marker. Aim The aim was to investigate plasma miR-451 value as a hemolytic marker, the authors conducted a pilot study on patients with BT attending a hematology clinic in Egypt. Patients and methods The patients with BT were categorized as transfusion dependent (TDT) and nontransfusion-dependent (NTDT). A total of 29 patients were included: 13 TDT (4.5–14.8 years), 16 NTDT (3.2–17.6 years), and 10 controls aged 3–14 years. The miR-451 expression in the plasma of patients was compared with the controls using real-time quantitative polymerase chain reaction. Results Plasma miR-451 expression was higher among patients with BT compared with controls (P=0.272). Similarly, there was a higher expression among the TDT subgroup than the NTDT subgroup (P=0.288). Patients with a severe disease phenotype showed a higher level of miR-451 expression when compared with mild and moderate cases (P=0.301) and among splenectomized patients (P=0.10). Plasma miR-451 did not significantly differentiate between patients with BT and normal controls (area under curve=0.621; P=0.17). In controls, the hemoglobin, red blood cells, and platelet count were significantly correlated with the plasma miR-451 (P=0.03, 0.008, and 0.008, respectively). However, in patients with BT, the alkaline phosphatase significantly correlated with miR-451 (P=0.007). Conclusion The expression of miR-451 was more in patients with TDT than NTDT and controls, but this was not statistically significant. Plasma miR-451 failed to differentiate between controls and patients with BT. More studies are needed to determine its significance in the clinical practice.
{"title":"Is microRNA-451 expression a useful hemolytic marker in children with β-thalassemia? A pilot study","authors":"S. Imbaby, Y. El Chazli, Nermeen Eldabah","doi":"10.4103/1687-9945.337834","DOIUrl":"https://doi.org/10.4103/1687-9945.337834","url":null,"abstract":"Background Beta-thalassemia (BT) is the most prevalent inherited hemoglobin disorder in Egypt. MicroRNA-451 (miR-451), an erythroid cell-specific miRNA, is upregulated during erythroid maturation and suggested to be a hemolytic marker. Aim The aim was to investigate plasma miR-451 value as a hemolytic marker, the authors conducted a pilot study on patients with BT attending a hematology clinic in Egypt. Patients and methods The patients with BT were categorized as transfusion dependent (TDT) and nontransfusion-dependent (NTDT). A total of 29 patients were included: 13 TDT (4.5–14.8 years), 16 NTDT (3.2–17.6 years), and 10 controls aged 3–14 years. The miR-451 expression in the plasma of patients was compared with the controls using real-time quantitative polymerase chain reaction. Results Plasma miR-451 expression was higher among patients with BT compared with controls (P=0.272). Similarly, there was a higher expression among the TDT subgroup than the NTDT subgroup (P=0.288). Patients with a severe disease phenotype showed a higher level of miR-451 expression when compared with mild and moderate cases (P=0.301) and among splenectomized patients (P=0.10). Plasma miR-451 did not significantly differentiate between patients with BT and normal controls (area under curve=0.621; P=0.17). In controls, the hemoglobin, red blood cells, and platelet count were significantly correlated with the plasma miR-451 (P=0.03, 0.008, and 0.008, respectively). However, in patients with BT, the alkaline phosphatase significantly correlated with miR-451 (P=0.007). Conclusion The expression of miR-451 was more in patients with TDT than NTDT and controls, but this was not statistically significant. Plasma miR-451 failed to differentiate between controls and patients with BT. More studies are needed to determine its significance in the clinical practice.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"27 1","pages":"229 - 236"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76615685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-01DOI: 10.4103/1687-9945.337837
A. Hassan, Mohiee El-Deen Abd El-Aziz Awad, Hanan H Soliman, Reda Usef, Dina Ata
Background Pediatric nonalcoholic fatty liver disease (NAFLD) is a global health problem. Recently, serum ferritin level (SFL) has been reported to be correlated with NAFLD and the degree of liver fibrosis and steatosis. Aim The aim was to assess serum ferritin level as a noninvasive marker for detection and staging hepatocellular injury, liver fibrosis, and steatosis diagnosed by FibroScan in children and adolescents with NAFLD disease proven with ultrasound. Patients and methods The authors assessed serum ferritin in 40 children with NAFLD diagnosed ultrasonography as well as 20 age-matched and sex-matched healthy controls. The authors also assessed the correlation between SFL and the different stages of hepatic fibrosis and steatosis assessed by FibroScan. Results The authors found thatthe values of serum ferritin were significantly higher in patients than controls (P=0.0001). Moreover, there was a positive correlation between SFL and ultrasonographic grades of liver steatosis, FibroScan liver fibrosis grades, and FibroScan liver steatosis controlled attenuation parameter score and its values among patients with NAFLD. Area under the receiver operating characteristic curve (0.995) shows serum ferritin (ng/ml) has significant sensitivity as a diagnostic marker for liver fibrosis degrees diagnosed by FibroScan and liver steatosis stage diagnosed by FibroScan with area under the receiver operating characteristic curve of 1.000 among the studied patients with NAFLD (P=0.0001). Moreover, it has significant sensitivity as a diagnostic marker for liver steatosis grades diagnosed by abdominal ultrasonography among the studied patients with NAFLD (P=0.0001). Conclusion The data suggest that SFL can be used as a noninvasive marker for diagnosis and staging of hepatocellular injury, liver fibrosis, and steatosis in children and adolescents with NAFLD.
{"title":"Serum ferritin level as a noninvasive marker for detection and staging of hepatocellular injury, liver fibrosis, and steatosis in children and adolescents with nonalcoholic fatty liver disease","authors":"A. Hassan, Mohiee El-Deen Abd El-Aziz Awad, Hanan H Soliman, Reda Usef, Dina Ata","doi":"10.4103/1687-9945.337837","DOIUrl":"https://doi.org/10.4103/1687-9945.337837","url":null,"abstract":"Background Pediatric nonalcoholic fatty liver disease (NAFLD) is a global health problem. Recently, serum ferritin level (SFL) has been reported to be correlated with NAFLD and the degree of liver fibrosis and steatosis. Aim The aim was to assess serum ferritin level as a noninvasive marker for detection and staging hepatocellular injury, liver fibrosis, and steatosis diagnosed by FibroScan in children and adolescents with NAFLD disease proven with ultrasound. Patients and methods The authors assessed serum ferritin in 40 children with NAFLD diagnosed ultrasonography as well as 20 age-matched and sex-matched healthy controls. The authors also assessed the correlation between SFL and the different stages of hepatic fibrosis and steatosis assessed by FibroScan. Results The authors found thatthe values of serum ferritin were significantly higher in patients than controls (P=0.0001). Moreover, there was a positive correlation between SFL and ultrasonographic grades of liver steatosis, FibroScan liver fibrosis grades, and FibroScan liver steatosis controlled attenuation parameter score and its values among patients with NAFLD. Area under the receiver operating characteristic curve (0.995) shows serum ferritin (ng/ml) has significant sensitivity as a diagnostic marker for liver fibrosis degrees diagnosed by FibroScan and liver steatosis stage diagnosed by FibroScan with area under the receiver operating characteristic curve of 1.000 among the studied patients with NAFLD (P=0.0001). Moreover, it has significant sensitivity as a diagnostic marker for liver steatosis grades diagnosed by abdominal ultrasonography among the studied patients with NAFLD (P=0.0001). Conclusion The data suggest that SFL can be used as a noninvasive marker for diagnosis and staging of hepatocellular injury, liver fibrosis, and steatosis in children and adolescents with NAFLD.","PeriodicalId":7866,"journal":{"name":"Alexandria Journal of Pediatrics","volume":"19 1","pages":"253 - 264"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88481040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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