Relationship between time at diagnosis and clinical manifestations of phenylketonuria in a sample of Egyptian children

Background Many genes have been implicated in the pathogenesis of systemic lupus erythematosus (SLE). Tumor necrosis factor (TNF) is a potent cytokine stimulator acting through 2 cell surface receptors (TNFR I and II). TNFRII gene which controls expression of these receptors has been linked to SLE susceptibility through promoting apoptosis. Also; Protein tyrosine phosphatase non receptor 22 (PTPN22) gene enhances intrinsic phosphatase activity of T lymphocytes leading to their dysregulation and stimulates autoimmune process of lupus and its rs2476601 has been linked to susceptibility to thyroiditis in SLE patients in few studies. Objectives (i) to investigate the correlation between 2 SNPs of TNFR II and PTPN22 genes and SLE susceptibility in a cohort of Egyptian children compared to controls (ii) and to investigate their possible association with different clinical presentations of the disease in children. Subjects and methods Typing of TNFR II rs1061622 and PTPN22 rs2476601 SNPs were done using polymerase chain reaction-restriction fragment length polymorphism for 74 children with SLE and 100 matched healthy controls. Results Children with SLE had more frequent G allele and GG genotype of TNFR II rs1061622 ( p < 0.001) and more T allele and TT genotype of PTPN22 rs2476601 ( p = 0.012 and <0.001, respectively) compared to controls. Only 6 patients (8%) had thyroiditis (hypothyroidism) with T allele and TT genotype of PTPN22 1858 T more prevalent in those patients versus those without thyroiditis ( p ≤ 0.001). Apart from, thyroiditis, no significant association was found between genotypes and alleles frequencies of the 2 studied SNPs and other clinical manifestations of the disease. Conclusion The G allele and GG genotype of TNFR II rs1061622 and T allele and TT genotype of PTPN22 rs2476601 genes polymorphism can be considered as risk factors for the development of SLE. The presence of the T allele of PTPN22 rs2476601 may increase the risk of concomitant thyroiditis in Egyptian children with SLE but further studies are required to confirm this finding as thyroiditis was reported only in few cases in this study.

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The Molecular Basis of Beta-Thalassemia Intermedia in Egyptian Children and its Association with the Clinical Phenotype

QJM ◽

10.1093/qjmed/hcab113.024 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Iman Ahmed Ragab ◽

Shereen Mohamed Abd El-Ghany ◽

Tarek Mostafa Kamal ◽

Ghada Samir Abd El-Halim Elsayed

Keyword(s):

Clinical Manifestations ◽

Cross Sectional Study ◽

Beta Thalassemia ◽

Compound Heterozygous ◽

Beta Globin ◽

Thalassemia Intermedia ◽

Cross Sectional ◽

Pediatric Hematology ◽

Egyptian Children ◽

Degrees Of Severity

Abstract Background β-thalassemia syndromes involve a collection of extremely diverse phenotypes. The term β-thalassemia intermedia (β-TI) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor thalassemia yet too mild to be termed major thalassemia. However, there remains substantial overlap between the three conditions. Aim of the Work To evaluate the variable clinical phenotypes among pediatric patients with βTI and to study the phenotype / genotype correlation with the encountered β-chain mutations. Patients and Methods A cross-sectional study was conducted on 37 Egyptian children and adolescents with TI following up regularly in the Pediatric Hematology clinic – Ain Shams University. Detailed Clinical evaluation and laboratory investigations were done. Reverse hybridization PCR based assay covering beta globin Mediterranean mutations onto specific biotinylated primers, was done. Results IVS 1.6 (T>C) was the most frequent mutation detected in 20 patients and 31 alleles (47.7%), followed by IVS 1.110 (G>A) detected in 7 patients and 8 alleles (12.31%), followed by IVS 1.1 (G>A) and CD27 knossos (G>T), each was detected in 6 patients and 6 alleles (9.23%). β+β+ was the most frequent genotype (54%), followed by β+β/β°β (21.6%) and β°β+ (13.5%). 60% of β°β+ patients had TDT(Transfusion dependent thalassemia), while 87.5% of β + β/β°β patients and 55% of β + β+ patients had NTDT ((Non transfusion dependent thalassemia). Conclusion Inheritance of mild β+ thalassemia mutations among Egyptian children; as IVS 1.6 (T>C) and IVS 1.110 (G>A) is the most frequent contributor to TI phenotype in either homozygous or compound heterozygous states. Patients with the same underlying genotype presented variable phenotypes with different degrees of severity.

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The Etiology of Portal Hypertension in Egyptian Children and Adolescents

QJM ◽

10.1093/qjmed/hcab113.043 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Lerine B El-Din Ahmed ◽

Asmaa W Abd Elaziz ◽

Reham I Abdelmegeed ◽

Mayada Abd El-Rahman F Battah

Keyword(s):

Portal Hypertension ◽

Portal Vein ◽

Pressure Gradient ◽

Portal Vein Thrombosis ◽

Hepatic Fibrosis ◽

Venous Pressure ◽

Vena Cava ◽

Clinical Manifestations ◽

Vein Thrombosis ◽

Egyptian Children

Abstract Background Portal hypertension is a clinical syndrome in which the portal venous pressure gradient between portal vein and inferior vena cava exceeding 5mmHg. Clinically significant portal hypertension is diagnosed when clinical manifestations of the disease appear or the portal pressure gradient exceeding 10 mmHg. For better management, it is important to determine the underlying cause. Objective To evaluate the aetiology of portal hypertension in pediatric who attending the hepatology clinic at El-Demerdash hospital, Ain Shams University. Materials and Methods This cross sectional study was done in the department of pediatric hepatology clinic at El-Demerdash hospital, Ain Shams University on 91 consecutive cases of portal hypertension enrolled from 2016 to 2019. All pediatric patients were subjected to full history, clinical examination, investigations and questionnaire about effect of portal hypertension and its complications on QOL. Results Age of children and adolescent was 5 months to 16 years with mean age of 5.55±4.30y and male to female ration was 1.5:1. Out of 91 children (51, 56.1%) developed portal hypertension due to extrahepatic causes and (39, 42.9%) due to hepatic causes. In extrahepatic causes (portal vein thrombosis was found 36, (39.6%) and Budd Chiari syndrome 15(16.5%)). On the other hand, hepatic causes (cong. hepatic fibrosis (CHF) was found in 21(23.1%), cases, hepatic cirrhosis 12(13.2%), extrahepatic biliary atresia 3(3.3%) and autoimmune hepatitis with secondary hepatic fibrosis 3(3.3%)). In extrahepatic cases first variant bleed much earlier than hepatic cases. Conclusion Extrahepatic disease were the most common aetiology of portal hypertension in studied cases. Portal vein thrombosis in extrahepatic cases and congenital hepatic fibrosis in intrahepatic cases were the most common causes.

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Systemic lupus erythematosus children in Egypt: Homeland spectrum amid the global situation

Lupus ◽

10.1177/09612033211043010 ◽

2021 ◽

pp. 096120332110430

Author(s):

Nahla N Eesa ◽

Hend Abdel Nabi ◽

Rasha El Owaidy ◽

Iman Khalifa ◽

Ahmed R Radwan ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Renal Involvement ◽

Disease Onset ◽

Damage Index ◽

Clinical Manifestations ◽

Skin Lesions ◽

Systemic Lupus ◽

Disease Characteristics ◽

Egyptian Children

Objectives This study aims to present the manifestations of juvenile systemic lupus erythematosus (JSLE) across Egypt, to focus on age at onset and gender-driven influence on disease characteristics, and to compare findings to other countries. Methods The study included 404 Egyptian children with systemic lupus erythematosus (SLE) presenting to one of the specialized rheumatology centers corresponding to 13 major governorates. Juvenile cases age was ≤ 16°years at the time of recruitment. The SLE Disease Activity Index (SLEDAI) and damage index (DI) were assessed. Results The mean age was 13.2 ± 2.4°years; 355 females and 49 males (7.2:1), and the disease duration was 2.3 ± 1.6 years, while age at disease onset was 11.1 ± 2.5°years. Their SLEDAI was 13.5 ± 12.3, and DI, 0.36 ± 0.78. The overall estimated prevalence of childhood-SLE patients in the recruited cohort in Egypt was 1/100,000 population (0.24/100000 males and 1.8/100000 females). 7.4% developed pre-pubertal SLE (≤ 7 years); 73.3%, peri-pubertal; and 19.3% during early adolescence. The differences according to age group were equal for gender and clinical manifestations except skin lesions present in 59.3% of pre-pubertal onset, 74.6% of peri-pubertal, and 84.2% of adolescents ( p = 0.029), and renal involvement in 73.8% of peripubertal, 62.1% of pre-pubertal and 58.9% of adolescents ( p = 0.03). Laboratory investigations, SLEDAI, and DI were similar among age categories. Lupus nephritis was more common in Egypt compared to JSLE from other countries. Conclusion Our large multicenter study identified that female gender influenced disease characteristics with more frequent skin involvement. Skin lesions were significantly higher in adolescents, while renal involvement in peri-pubertal children.

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Basal Ganglionic Lesions in Egyptian Children: Radiological Findings in Correlation With Etiology and Clinical Manifestations

Journal of Psychology and Neuroscience ◽

10.47485/2693-2490.1007 ◽

2020 ◽

Keyword(s):

Ischemic Stroke ◽

Basal Ganglia ◽

Acute Ischemic Stroke ◽

Muscle Tone ◽

Carbon Monoxide Poisoning ◽

Clinical Manifestations ◽

University Hospitals ◽

Egyptian Children ◽

Disease Damage ◽

One Year

Background: In childhood, the metabolic activity of the basal ganglia is greater and they are particularly prone to injury. The lesions may be unilateral: in Rassmussen encephalitis or – more frequently – bilateral in many pathologic conditions like Carbon monoxide poisoning, hypoglycemia, and Wilson disease. Damage to the basal ganglia cells may cause problems controlling speech, movement, consciousness, muscle tone, posture and cognition. Aim of the Study: to determine the etiology of basal ganglionic disorders in a sample of Egyptian children. Methods: This study was conducted on 34 patients attended the Pediatric Neurology of AlAzhar University Hospitals during a period of one year from the beginning of November 2014 to the end of November 2015. A specialized pediatric neurological sheet, Cognitive assessment in children using Stanford Binet Intelligence Scale and Laboratory investigations were performed. Results: Acute ischemic stroke was the most frequent cause, which was found in 12 (35.3%) cases, followed by 10 (29.4%) had metabolic and infectious causes, and lastly 2 (5.9%) had toxic causes. The incidence of toxic causes (CO poisoning) was significantly higher among ganglionic group compared to paraganglionic group (8.7% versus 0.0%, respectively). Conclusion: Acute ischemic stroke was the most frequent cause of basal ganglionic lesion in a sample of Egyptian children.

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ARID5B rs10821936 and rs10994982 gene polymorphism and susceptibility to juvenile systemic lupus erythematosus and lupus nephritis

Lupus ◽

10.1177/09612033211010338 ◽

2021 ◽

pp. 096120332110103

Author(s):

Youssef M Mosaad ◽

Ayman Hammad ◽

Mohamed F AlHarrass ◽

Rehab Sallam ◽

Amany Shouma ◽

...

Keyword(s):

Risk Factor ◽

Lupus Nephritis ◽

Lupus Erythematosus ◽

Clinical Manifestations ◽

Juvenile Systemic Lupus Erythematosus ◽

Egyptian Children ◽

Geographical Populations ◽

Juvenile Sle ◽

Pcr Genotyping

Background The prevalence of SLE and the spectrum of clinical manifestations vary widely in different races and geographical populations. Objective To investigate the possible role of ARID5B rs10821936 and rs10994982 polymorphism as a risk factor for the development of SLE in children (jSLE) and to evaluate their role in relation to clinical manifestations especially lupus nephritis (LN). Methods DNA extraction and Real-time PCR genotyping of ARID5B rs10821936 and rs10994982 were done for 104 jSLE and 282 healthy controls. Results The C allele and C containing genotypes (CC, CT and CC+CT) of ARID5B rs10821936 were higher in children with SLE (p = 0.009, OR = 1.56, 0.037, OR = 2.35, 0.016, OR = 1.81 and 0.008 OR = 1.88 respectively). ARID5B rs10994982 alleles, genotypes and haplotypes are not associated with jSLE (p > 0.05). The ARID5B rs10821936 and rs10994982 genotypes showed non-significant associations with LN, proliferative versus non proliferative and biopsy grades (p > 0.05). Conclusion ARID5B rs10821936 SNP may be a susceptibility risk factor for juvenile SLE in the studied cohort of Egyptian children.

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Morphologic alteration in the muscles of patients with hypokalemic periodic paralysis or myopathy

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100158650 ◽

1990 ◽

Vol 48 (3) ◽

pp. 222-223

Author(s):

T. Shimizu ◽

Y. Muranaka ◽

I. Ohta ◽

N. Honda

Keyword(s):

Clinical Manifestations ◽

Quadriceps Muscle ◽

Honeycomb Structure ◽

Periodic Paralysis ◽

Ultrastructural Changes ◽

Hypokalemic Periodic Paralysis ◽

Electron Microscopic ◽

Tubular Aggregates ◽

Hypokalemic Myopathy ◽

Transmission Electron

There have been many reports on ultrastructural alterations in muscles of hypokalemic periodic paralysis (hpp) and hypokalemic myopathy(hm). It is stressed in those reports that tubular structures such as tubular aggregates are usually to be found in hpp as a characteristic feature, but not in hm. We analyzed the histological differences between hpp and hm, comparing their clinical manifestations and morphologic changes in muscles. Materials analyzed were biopsied muscles from 18 patients which showed muscular symptoms due to hypokalemia. The muscle specimens were obtained by means of biopsy from quadriceps muscle and fixed with 2% glutaraldehyde (pH 7.4) and analyzed by ordinary method and modified Golgimethod. The ultrathin section were examined in JEOL 200CX transmission electron microscopy.Electron microscopic examinations disclosed dilated t-system and terminal cistern of sarcoplasmic reticulum (SR)(Fig 1), and an unique structure like “sixad” was occasionally observed in some specimens (Fig 2). Tubular aggregates (Fig 3) and honeycomb structure (Fig 4) were also common characteristic structures in all cases. These ultrastructural changes were common in both the hypokalemic periodic paralysis and the hypokalemic myopathy, regardless of the time of biopsy or the duration of hypokalemia suffered.

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