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Children with Down syndrome (DS) exhibit higher overweight/obesity rates than their typically developing peers. Apelin-12 is a bioactive adipokine that exerts vital roles in obesity-related cardiometabolic comorbidities. To date, apelin-12 has not been investigated in obese-DS. This study aimed to explore the possible association between serum apelin-12 and obesity-related markers and to evaluate the efficiency of apelin-12 in the prediction of metabolic syndrome (MetS) in obese-DS compared to BMI Z-score matched obese-control. The cross-sectional study included 150 prepubertal children classified into three groups; obese-DS (n = 50), obese-control (n = 50), and normal-weight-control (n = 50). Anthropometric parameters, body adiposity, fasting serum levels of blood glucose (FBG), insulin, lipid profile, and apelin-12 were evaluated. Homeostasis model assessment of insulin resistance (HOMA-IR) was calculated from FBG and insulin. MetS was defined using Adult Treatment Panel III criteria modified for the pediatric age group. ROC curves were analyzed to evaluate the efficiency of apelin-12 in predicting MetS in obesity groups. Obese-DS exhibited higher body adiposity with marked central fat distribution, atherogenic lipid profile, and higher HOMA-IR compared to obese-control. Apelin-12 was significantly higher in obese-DS and obese-DS with MetS compared to obese-control and obese-control with MetS respectively (p < 0.001). The increase in apelin-12 with higher obesity grades was pronounced in obese-DS. Apelin-12 strongly correlated with body adiposity, several MetS risk factors, and HOMA-IR in obese-DS. Significantly higher AUC for apelin-12 in the diagnosis of MetS among obese-DS than obese-control (AUC = 0.948 vs. AUC = 0.807; p = 0.04). CONCLUSIONS: The current study supports the crucial role of apelin-12 in obesity-related clinical and biochemical markers and in MetS in obese-DS and obese-control. Serum apelin-12 is a potential diagnostic biomarker for MetS with greater performance in obese-DS than obese-control raising its potential for clinical and therapeutic applications. WHAT IS KNOWN: ⢠Obese-DS children displayed excess body adiposity, Pronounced central fat distribution, atherogenic lipid profile, higher HOMA-IR, and higher prevalence of MetS than obese-control. WHAT IS NEW: ⢠Higher serum apelin-12 was observed in obese-DS and obese-DS with MetS than obese-control and obese-control with MetS respectively. The increase in apelin-12 level with increasing obesity grades was more pronounced in obese-DS. ⢠Apelin-12 strongly correlated with obesity-related markers and MetS components in obese-DS. Apelin-12 performed better as a diagnostic biomarker for MetS in obese-DS than obese-control.
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Síndrome de Down , Resistência à Insulina , Peptídeos e Proteínas de Sinalização Intercelular , Síndrome Metabólica , Adulto , Humanos , Criança , Estudos Transversais , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Egito , Índice de Massa Corporal , Obesidade/complicações , Síndrome Metabólica/complicações , Síndrome Metabólica/diagnóstico , Insulina , Biomarcadores , Glicemia/metabolismo , LipídeosRESUMO
Immune thrombocytopenic purpura (ITP) is an autoimmune disease with possible dysregulation of the apoptotic pathways. We aimed to evaluate the possible role of some apoptotic markers (caspase 3, caspase 8 and BCL2) in the pathogenesis and course of ITP. We investigated some apoptotic markers (caspase 3, caspase 8 and BCL2) using the flow cytometry in 60 children with newly diagnosed ITP, 20 children with chemotherapy-related thrombocytopenia (CRT) and 20 healthy children. We also assessed the effects of intravenous immunoglobulin (IVIG) and methyl prednisolone therapies on the platelet apoptosis in children with newly diagnosed ITP. We demonstrated significantly higher values of caspase 3 in the newly diagnosed ITP group than control and CRT groups, and non-significantly higher values of caspase 8 in the ITP group than the healthy group. After IVIG treatment, the platelet count increased in all patients, and there was a significant decrease in caspase 3 and caspase 8 levels while BCL2 level increased. Regarding methylprednisolone treatment, there was a significant decrease in BCL2 and caspase 8 levels while caspase 3 levels did not significantly decrease. There is a possible role of the caspase dependent cell death pathway of the platelets in the occurrence of newly diagnosed ITP. There is heterogeneity in the apoptotic changes of newly diagnosed ITP children who received IVIG versus those who received methylprednisolone.
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Background & Aim of the Work: ß-Thalassemia (ßT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening ßT carriers among Egyptian high school students in the Delta region. SUBJECTS AND METHODS: A cross-sectional multicenter study was carried out on 4320 randomly selected students from four governorates of the Nile Delta region, Egypt. All patients were to be tested for their complete blood count. Those with microcytic hypochromic anemia not caused by iron deficiency were tested for ßT carrier status using high-performance liquid chromatography. RESULTS: The total prevalence of ßT carrier rate was 6.13%. The highest prevalence was detected in Al-Sharkia Governorate, reaching 7.89%, followed by 6.90% in Al-Gharbia Governorate. Al- Dakahilia and Al-Menoufia showed lower rates of 4.86% and 3.73%, respectively. CONCLUSION: Despite the premarital national screening program for ßT in Egypt, the carrier rate is still high. More effort should be done into the proper implementation of national prevention programs.
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Anemia Hipocrômica , Talassemia beta , Humanos , Criança , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Estudos Transversais , Prevalência , Egito/epidemiologiaRESUMO
Endothelin-1 plays a crucial role in the pathophysiology of nephrotic syndrome (NS) in children. The primary purpose of this study is to evaluate the contribution of the EDN1 (3A/4A; rs1800997) variant to the risk of nephrotic syndrome. This study involves 200 participants (100 healthy controls, 50 steroid-sensitive nephrotic syndromes [SSNS] patients, and 50 steroid-resistant nephrotic syndromes [SRNS] patients]. Genomic DNA has been characterized using the PCR-RFLP technique. The predominant genotype that is common in this study population was the EDN1 3A/3A genotype (NS [75%] and healthy controls [88%]). The prevalence of EDN1 3A/4A genotype and EDN1 4A allele was significantly increased among NS patients compared with healthy subjects (p-value < 0.05). Furthermore, the frequency of the EDN1 (3A/4A; rs1800997) variant was statistically significant among SRNS patients (p-value < 0.05). The EDN1 3A/4A genotype and the EDN1 4A allele were identified as independent risk factors of the nephrotic syndrome among children.
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Regiões 5' não Traduzidas , Endotelina-1/genética , Predisposição Genética para Doença , Síndrome Nefrótica/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: Screening of ß thalassemia among close relatives is more feasible in highly prevalent countries with limited resources. The purpose of this study is to determine the prevalence of ß thalassemia carriers and iron deficiency anemia among relatives of ß thalassemia patients in Mid Delta, Egypt. METHODS: This is a cross-sectional multi-center study conducted on 2118 relatives of patients with ß thalassemia from different Egyptian governorates in the Mid Delta region. They were subjected to history taking with precise determination of geographic location, general examination, and the following investigations: complete blood counts, serum ferritin for those who showed microcytic hypochromic anemia, and high-performance liquid chromatography for those who were not diagnosed as iron deficiency anemia. RESULTS: The total prevalence of iron deficiency anemia among close relatives of confirmed ß thalassemia patients in the Nile Delta region was 17.19%. The highest prevalence of iron deficiency anemia (45.05%) was reported in Al-Gharbia Governorate, followed by Al-Menoufia Governorate (21.67%), and the lowest prevalence was that of Al-Sharkia Governorate (4.91%). The differences were highly statistically significant (p < 0.001). ß thalassemia carrier prevalence rate in the studied relatives was 35.84%, with the highest prevalence detected in Al-Sharkia Governorate (51.32%), followed by Kafr-Alsheikh and Al-Dakahilia Governorates (41.78%, 37.13%) respectively, while Al-Menoufia Governorate had the lowest prevalence rate (25.00%). These differences were also highly statistically significant (p < 0.001). CONCLUSION: More than one-third of relatives of patients with ß thalassemia are carriers of the disease, while 17.19% suffer from iron deficiency anemia. This study demonstrates the importance of tracing the high number of beta thalassemia carriers among relatives of patients with ß thalassemia in Egypt.
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OBJECTIVES: Children with Down syndrome (DS) have a higher risk for obesity. Adiponectin plays a crucial role in obesity-related cardiometabolic comorbidities. The study aimed to explore whether body adiposity indicators, the frequency of metabolic syndrome (MetS) and its components, serum adiponectin and insulin resistance indices as well as the validity of serum adiponectin as a biomarker for MetS are different in prepubertal obese-DS children compared to matched obese-controls. METHODS: Cross-sectional study included 150 prepubertal children classfied into three groups; obese-DS (n=50), obese-control (n=50) and normal-weight-control (n=50). Participants were evaluated for waist-circumference (WC), body adiposity, serum triglycerides, HDL-C, adiponectin and Homeostasis-Model-Assessment of Insulin-Resistance (HOMA-IR). MetS was defined using modified Adult Treatment Panel III-criteria. RESULTS: Obese-DS had significantly higher WC, %body fat, total-fat mass, trunk-fat mass, trunk/appendicular-fat mass ratio, triglycerides, insulin and HOMA-IR and significantly lower HDL-C values compared to obese-control. Higher prevalence of MetS and its components were observed in obese-DS that was evident at younger age. Adiponectin was significantly lower in obese-DS compared with obese-control and in obese-DS children with MetS compared to obesecontrol with MetS. The decrease in adiponectin with increasing grades of obesity was pronounced in obese-DS. Adiponectin exhibited strong correlations with body adiposity, several MetS components and HOMA-IR in obese-DS. Adiponectin performed better as a biomarker for MetS among obese-DS (AUC=0.808) than obese-control (AUC=0.674). CONCLUSIONS: Prepubertal obese-DS displayed excess body adiposity with pronounced central fat distribution, atherogenic lipid profile and higher insulin resistance compared to matched obese-control. Adiponectin performed better as potential biomarker of MetS in obese-DS than obese-control.
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Adiponectina/sangue , Adiposidade/fisiologia , Síndrome de Down/sangue , Síndrome Metabólica/sangue , Obesidade/sangue , Pressão Sanguínea/fisiologia , Criança , Colesterol/sangue , Estudos Transversais , Síndrome de Down/complicações , Egito , Feminino , Humanos , Resistência à Insulina/fisiologia , Masculino , Síndrome Metabólica/complicações , Obesidade/complicações , Triglicerídeos/sangueRESUMO
Systemic lupus erythematosus (SLE) is an autoimmune disease with unknown exact etiology. Vitamin D receptor gene ( VDR) and oxidative stress play important roles in the pathogenesis of SLE. Here we investigated the genotypes and allelic frequencies of VDR BsmI polymorphism as well as their relationship with oxidative stress markers in Egyptian SLE children. We conducted a cross-sectional comparative study at Mansoura University Children's Hospital, Egypt from 2014 to 2018 including 100 SLE children and 100 controls. We investigated both groups for VDR BsmI polymorphism using polymerase chain reaction. Oxidative stress was assessed using malondialdehyde, glutathione S-transferase, superoxide dismutase, catalase and total antioxidant capacity. BB genotype frequency was found to be significantly higher in the SLE group ( p = 0.04, odds ratio (95% confidence interval) = 2.5 (1.01-5.9)). However, VDR B allele and b allele showed insignificant differences between SLE patients and controls ( p = 0.36, odds ratio (95% confidence interval) = 1.2 (0.8-1.8)). Lower levels of glutathione S-transferase, superoxide dismutase and total antioxidant capacity were found in the SLE group with statistically significant differences as regards glutathione S-transferase and superoxide dismutase ( p < 0.001). Serum malondialdehyde and catalase levels were significantly higher in the SLE group ( p < 0.001). No significant differences were found between VDR BsmI polymorphism (genotypes and alleles) and oxidative stress markers in the SLE group. In conclusion, BB genotype of VDR BsmI polymorphism is associated with an increased risk of SLE among Egyptian children. Oxidative stress may contribute in pathogenesis of SLE but is not associated with VDR BsmI polymorphism.
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Lúpus Eritematoso Sistêmico/genética , Estresse Oxidativo , Polimorfismo Genético , Receptores de Calcitriol/genética , Adolescente , Alelos , Estudos de Casos e Controles , Criança , Estudos Transversais , Egito , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Reação em Cadeia da PolimeraseRESUMO
The impact of chronic immune thrombocytopenic purpura (ITP) on the psychological health and quality of life is evident among children and adolescents. We aimed to describe psychological disorders and assess quality of life in children with chronic ITP and compared their results with their healthy peers. A cross-sectional comparative study was carried out in a tertiary care university-affiliated hospital during a period from November, 2015 till April, 2018. We enrolled 119 children with chronic ITP and compared with 220 healthy peers. Relevant demographic and clinical data were collected and statistically analyzed. Quality of life for both patients and control groups was measured using pediatric quality of life inventory version 4 (Arabic one). Also psychiatric evaluation of both groups was done using Arabic version of Mini-International Neuropsychiatric Interview for Children (Mini-KID). Majority of patients (90.7%) exhibited mucocutaneous bleeding. Most of patients (61.3%) did not need any definitive treatment for chronic ITP while 38.6% received second line therapy. About one-third of the patients needed rescue medications to control active bleeding. The scores of all sub-scales of Peds QL 4.0 were significantly decreased among patients group when compared to their healthy peers (P < 0.001). General anxiety disorder and oppositional defiant disorders were the commonest psychiatric disorders among children with chronic ITP. Quality of life in children with chronic ITP is markedly impaired with occurrence of a variable spectrum of psychiatric disorders among the studied patients.
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OBJECTIVE: To evaluate biochemical and clinical effects of 2 different doses of vitamin D supplementation in preterm infants with late-onset sepsis (LOS). STUDY DESIGN: A double blinded randomized controlled stratified trial included preterm infants with gestational age (GA) ≥28 weeks with LOS. Subjects were randomly assigned to receive 400 or 800âIU/day of vitamin D3. Serum concentrations of 25(OH)D, TNF-α, and IL-6 were measured at enrollment, 7 days after vitamin D supplementation, and at 40 weeks of postmenstrual age (PMA). Short-term outcomes and growth parameters were assessed. RESULTS: A total of 50 infants were enrolled, 25 in each group. Seventy-six percentage of enrolled infants were vitamin D-deficient at enrollment in both groups whereas only one infant in the 400âIU and none in the 800âIU group remained deficient at 40 week's PMA; vitamin D concentrations at 40 weeks PMA were 54.8â±â35.1 and 67.4â±â37.1âng/mL, respectively, Pâ=â0.01). None of the infants enrolled in the study had signs of vitamin D toxicity. Serum pro-inflammatory cytokines IL-6 and TNF- α concentrations decreased at 1 week and at discharge in both groups without differences between groups. The 2 groups did not differ in anthropometric measurements, duration of oxygen and respiratory support, duration of antimicrobial use, length of hospital stay, and mortality. CONCLUSIONS: A dose of 400âIU of vitamin D was adequate to treat vitamin D deficiency in the majority of premature infants with LOS. The 2 dosing regimens did not differ in clinical or biochemical changes.
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Colecalciferol/uso terapêutico , Recém-Nascido Prematuro , Sepse/tratamento farmacológico , Administração Oral , Colecalciferol/administração & dosagem , Suplementos Nutricionais , Método Duplo-Cego , Feminino , Humanos , Recém-Nascido , Doenças do Prematuro/sangue , Doenças do Prematuro/tratamento farmacológico , Interleucina-6/sangue , Masculino , Sepse/sangue , Resultado do Tratamento , Fator de Necrose Tumoral alfa/sangue , Vitamina D/sangueRESUMO
Rapunzel syndrome is a rare form of gastric trichobezoar. A 4-year-old girl presented with generalised oedema and an epigastric mass. Her family was of a relatively low socio-economic background. There was microcytic hypochromic anaemia, hypoalbuminaemia and an elevated α1-antitrypsin clearance. Abdominal ultrasound and non-contrast computed tomography demonstrated a heterogeneous mass related to the stomach. Upper gastro-intestinal tract endoscopy failed to remove it. Surgical laparotomy was undertaken through a single anterior gastrotomy incision and a large mass was extracted which was a cast of the duodenum and stomach and had a tail of approximately 60 cm in length which extended to the jejunum. Low socio-economic status, child neglect and pica are risk factors for trichobezoars. Surgical laparotomy is the optimal treatment of large bezoars.
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Bezoares/diagnóstico , Bezoares/patologia , Edema/etiologia , Edema/patologia , Gastropatias/diagnóstico , Gastropatias/patologia , Bezoares/diagnóstico por imagem , Bezoares/cirurgia , Pré-Escolar , Endoscopia Gastrointestinal , Feminino , Humanos , Lactente , Laparotomia , Masculino , Pica , Radiografia Abdominal , Fatores de Risco , Fatores Socioeconômicos , Gastropatias/diagnóstico por imagem , Gastropatias/cirurgia , Tomografia Computadorizada por Raios X , UltrassonografiaRESUMO
Angiotensin II, the major effective molecule of the renin-angiotensin system, plays a vital role in the development of systemic lupus erythematosus (SLE). To study angiotensin II type 1 receptor (AT1R) gene polymorphism at (A1166C) in Egyptian children with SLE and its correlation with serum ACE level and SLE manifestations. AT1R gene polymorphism (A1166C) was done in 123 children with SLE in comparison to 100 healthy controls using polymerase chain reaction-based restriction fragment length polymorphism method (PCR-RFLP) and the tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) to confirm the results of the genotyping. Serum ACE level measurement was done using ELISA technique. The frequencies of C-containing genotypes (AC + CC) and C-allele of AT1R (A1166C) were significantly higher in SLE patients compared to controls (p < 0.0001, OR = 4.9, 95% CI = 2.7-8.8; p Ë 0.0001, OR = 3.6, 95% CI = 2.2-5.9, respectively). Lupus nephritis (LN) patients had significantly higher frequency of (AC + CC) genotypes and C-allele compared with controls (p Ë 0.0001, OR = 5.1, 95% CI = 2.7-9.7; p Ë 0.0001, OR = 3.5, 95% CI = 2.1-6.02, respectively). Mean serum ACE levels were significantly higher in SLE patients compared to controls (p Ë 0.0001). There were no associations between AT1R gene polymorphism and serum ACE level and the clinical manifestations of SLE. The AT1R gene polymorphism can be considered a risk factor for the development of SLE in Egyptian children.
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Lúpus Eritematoso Sistêmico/genética , Peptidil Dipeptidase A/sangue , Polimorfismo Genético , Receptor Tipo 1 de Angiotensina/genética , Adolescente , Alelos , Criança , Pré-Escolar , Estudos Transversais , Egito/epidemiologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Lúpus Eritematoso Sistêmico/sangue , Nefrite Lúpica/sangue , Nefrite Lúpica/genética , Masculino , Polimorfismo de Fragmento de RestriçãoRESUMO
BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time. OBJECTIVES: To update knowledge of the prevalence, types, trends and associated factors for CHD in children with DS in the Egyptian Delta. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Mansoura, Egypt during a period of 14 years from 2003 up to 2016. PATIENTS AND METHODS: We studied children with genetically proven DS. Relevant sociodemographic factors, medical history, clinical examination, karyotype and echocardiographic data were statistically analyzed. MAIN OUTCOME MEASURES: Prevalence, types and risk factors of CHD in DS. RESULTS: The prevalence of overall, isolated and multiple CHD in 1720 children with DS were 36.9%, 29% and 8%, respectively. Isolated defects accounted for 78.4% of all CHD. Ventricular septal defect, atrioventricular septal defect and atrial septal defect were the most frequent isolated defects. There was a downward trend in the prevalence of overall CHD (from 56.2% to 25.0%) and isolated CHD (from 56.2% to 19.8%). The logistic regression model predicted 65.7% of CHD and revealed that passive maternal smoking, lack of folic acid/multivitamin supplementation and parental consanguinity were the independent predictors of CHD in children with DS with adjusted odds ratios of 1.9, 1.8 and 1.9, respectively. CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common. Avoidance of passive maternal smoking and consanguineous marriage together with maternal folic acid supplementation could contribute to further reduction of CHD in children with DS. LIMITATIONS: Single-center study and retrospective.
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Síndrome de Down/complicações , Cardiopatias Congênitas/epidemiologia , Comunicação Interventricular/epidemiologia , Adolescente , Criança , Pré-Escolar , Consanguinidade , Egito/epidemiologia , Ácido Fólico/administração & dosagem , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/fisiopatologia , Defeitos dos Septos Cardíacos/epidemiologia , Defeitos dos Septos Cardíacos/etiologia , Comunicação Interatrial/epidemiologia , Comunicação Interatrial/etiologia , Comunicação Interventricular/etiologia , Humanos , Lactente , Modelos Logísticos , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fumar/efeitos adversosRESUMO
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS) had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.
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Fibrilina-1/genética , Glomerulosclerose Segmentar e Focal/complicações , Síndrome de Marfan/genética , Mutação , Síndrome Nefrótica/etiologia , Adolescente , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Glomerulosclerose Segmentar e Focal/diagnóstico , Hereditariedade , Humanos , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Linhagem , Fenótipo , Fatores de Risco , Adulto JovemRESUMO
UNLABELLED: There are no reports about the association of interleukin (IL)-17A and IL-17F gene polymorphism and susceptibility to pediatric systemic lupus erythematosus (pSLE). OBJECTIVE: To examine the possible role of IL-17A rs2275913, IL-17F rs763780 and rs2397084 polymorphisms as risk factors for pSLE in a cohort of Egyptian children and to investigate their association with the clinico-pathological features including lupus nephritis (LN). METHODS: Typing of IL-17A and IL-17F polymorphisms was done using restriction fragment length polymorphism for 115 children with SLE and 259 age- and sex-matched healthy controls. RESULTS: No significant differences were found between pSLE patients and healthy controls for the allele and genotype frequencies of IL-17A rs2275913, IL-17F rs763780 and rs2397084 (p > 0.05). However, the combined genotype GGAGAA and the haplotype GGA had significant association with pSLE (pc = 0.042 and <0.001, respectively). The AA genotype of IL-17F rs763780 is more frequent in female patients (p = 0.002) and the AA genotype of IL-17F rs2397084 is more associated with positivity of ds-DNA (p = 0.007). No more associations were found for the demographic and clinical data of pSLE patients including risk of LN development, risk of non-remission, overall survival, activity and chronicity indices. CONCLUSION: The GGAGAA combined genotype and the GGA haplotype of IL-17A rs2275913, IL-17F rs763780 and rs2397084 can be considered risk factors for the development of SLE in Egyptian children. IL-17A rs2275913, IL-17F rs763780 and rs2397084 are not related to the LN development, SLE disease activity or overall survival.
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Predisposição Genética para Doença , Interleucina-17/genética , Lúpus Eritematoso Sistêmico/genética , Nefrite Lúpica/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Alelos , Estudos de Casos e Controles , Criança , Egito , Feminino , Expressão Gênica , Frequência do Gene , Humanos , Interleucina-17/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Lúpus Eritematoso Sistêmico/mortalidade , Lúpus Eritematoso Sistêmico/patologia , Nefrite Lúpica/imunologia , Nefrite Lúpica/mortalidade , Nefrite Lúpica/patologia , Masculino , Fatores de Risco , Análise de SobrevidaRESUMO
UNLABELLED: Concerns of possible genotoxic effects of hyperbilirubinemia and phototherapy were raised from experimental and observational studies in neonates. This study aimed to assess the impact of hyperbilirubinemia and phototherapy on DNA damage and apoptosis in peripheral blood lymphocytes in healthy full-term infants. This study was conducted in the Children's Hospital, Mansoura University. Patients enrolled in this study were classified into three groups (each with 45 full-term infants): group 1 was composed of infants with hyperbilirubinemia requiring phototherapy, group 2 infants with physiological jaundice not requiring phototherapy, and group 3 infants without clinical jaundice. All enrolled infants were subjected to assessment of DNA damage and apoptosis in peripheral blood lymphocytes, using the comet assay and P53 by flow cytometry, consecutively. In group 1, measurements were done twice, before starting phototherapy and just before its discontinuation. DNA damage was not significantly different in the three groups, but it significantly increased after exposure to phototherapy compared to pre-phototherapy levels. There was no significant difference in P53 level in the three groups; however, it significantly increased after exposure to phototherapy. There were significant positive correlations between the duration of phototherapy and markers of DNA damage and apoptosis. CONCLUSIONS: Hyperbilirubinemia does not influence DNA damage and apoptosis, whereas phototherapy causes DNA damage and induces apoptosis in peripheral blood lymphocytes of full-term infants.
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Apoptose , Dano ao DNA/genética , Hiperbilirrubinemia Neonatal/terapia , Linfócitos/patologia , Fototerapia/efeitos adversos , Bilirrubina/sangue , Biomarcadores/sangue , Ensaio Cometa , Feminino , Citometria de Fluxo , Humanos , Hiperbilirrubinemia Neonatal/sangue , Hiperbilirrubinemia Neonatal/genética , Recém-Nascido , Masculino , Estudos Prospectivos , Proteína Supressora de Tumor p53/sangueRESUMO
BACKGROUND: Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations. OBJECTIVES: The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A). SUBJECTS AND METHODS: Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA). RESULTS: Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive. CONCLUSION: M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link.
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BACKGROUND AND OBJECTIVES: Down syndrome (DS) is associated with intellectual disability, and patients with DS show significant psychopathology. The objectives of this study were to estimate the prevalence of disruptive behavior in DS patients compared to their siblings, and to find any association between the disruptive behavior and the degree of intelligence. DESIGN AND SETTINGS: This is a cross-sectional comparative study done in Mansoura University Children's Hospital during the period March 1, 2012-February 28, 2013. SUBJECTS AND METHODS: In this study, 100 cases of DS and an equal number of their brothers/sisters were enrolled in the study. The Arabic version of Vineland Adaptive Behavior Scale was used for assessing social and mental intelligence quotient (IQ). The Arabic version of Mini International Neuropsychiatric Interview for Children (MINI-KID) and disruptive behavior disorder (DBD) rating scale were used for assessing disruptive behavior disorders. RESULTS: Both social and mental IQs were significantly higher in non-DS than in DS cases. The prevalence of different variants of attention deficit/hyperactive disorder (ADHD)-impulsive, inattentive, and combined types-was significantly lower in non-DS than in DS cases; however, there was no statistical difference between both groups as regards oppositional defiant disorder and conduct disorder (CD). Also among DS cases, impulsive and combined types varied significantly with the degree of their IQ. CONCLUSION: ADHD was more common among DS patients with a special impact of IQ on the type of psychiatric illness. We recommend psychiatric assessment for DS patients as a part of multidisciplinary management.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno da Conduta/epidemiologia , Síndrome de Down/epidemiologia , Irmãos/psicologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/psicologia , Criança , Transtorno da Conduta/psicologia , Estudos Transversais , Síndrome de Down/psicologia , Egito/epidemiologia , Feminino , Humanos , Comportamento Impulsivo , Testes de Inteligência , Masculino , PrevalênciaRESUMO
Background. The presence of Y chromosome material in Turner's syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chromosome-derived material in those patients. Aim and Methods. This study was conducted to investigate the prevalence of hidden Y chromosome mosaicism in 48 TS Egyptian patients using polymerase chain reaction (PCR) for molecular DNA analysis of SRY gene and compare our results with those in the literature. Results. None of TS patients had a cytogenetically obvious Y chromosome; Y chromosome material was detected only at molecular analysis. SRY gene was found in 9 TS patients (18.75%) with the classical 45,X karyotype, whereas all other patients were SRY negative. Conclusion. Cytogenetically undetected Y chromosome mosaicism is common in TS patients; these data reinforce the need for adequate diagnosis of Y chromosome material in those patients. Molecular screening for Y chromosome-derived DNA should be routinely carried out in all TS patients.