scholarly journals ADAPTATION AND MODIFICATION OF THE DEVELOPMENTAL PROFILE 3 IN ASSESSMENT OF DEVELOPMENT IN EGYPTIAN CHILDREN

2021 ◽  
Vol 3 (4) ◽  
pp. 98-99
Author(s):  
rania abdou ◽  
Nesrine Hammouda ◽  
Amgad Bobaker
2011 ◽  
Vol 21 (2) ◽  
pp. 59-62
Author(s):  
Joseph Donaher ◽  
Christina Deery ◽  
Sarah Vogel

Healthcare professionals require a thorough understanding of stuttering since they frequently play an important role in the identification and differential diagnosis of stuttering for preschool children. This paper introduces The Preschool Stuttering Screen for Healthcare Professionals (PSSHP) which highlights risk factors identified in the literature as being associated with persistent stuttering. By integrating the results of the checklist with a child’s developmental profile, healthcare professionals can make better-informed, evidence-based decisions for their patients.


Author(s):  
Blaurock-Busch E

The heavy metal burden of patients with Autism spectrum disorders (ASD) has been widely discussed [1-5]. Present knowledge suggests that ASD patients, compared to ‘normal’s’ show a greater metal burden, which may be a cause of the ASD pathogenesis, possibly due to a limited detoxification potential. We thus aimed to evaluate if the metal burden of ASD children is due to comprised detoxification ability, and if missing of enzymes such as the glutathione-S-transferases provide an explanation, or if additional factors play a role. Genetically, we noticed a slight difference in the detoxification ability of the ASD group compared to the Control group. In the ASD group, carrier of the genotype GSTT1 null genotype (i.e. the homozygous loss) are 1.7 times more common as in the Control group and the GSTT1 allele is more frequent in the ASD patient collective. These findings are not statistically significant but indicate a trend. In addition, our data indicates that levels of potentially toxic metals in blood and hair of both groups demonstrate a similar immediate and long-term exposure. However, 36% of the ASD group showed signs of zinc deficiency compared to 11% of the Control group and this points towards inefficiency of the Phase I detoxification pathway. More research is needed to explore the role of other elements in the detoxification pathway.


2020 ◽  
Author(s):  
Alameldin Abdallah ◽  
Naglaa S. Osman ◽  
Kotb A. Metwalley ◽  
Hanaa A Mohammad ◽  
Mostafa Embaby ◽  
...  

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.


2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Laila M. Sherief ◽  
Seham M. Ragab ◽  
Mohamed A. Helwa ◽  
Naglaa M. Kamal ◽  
Mona R. Afify ◽  
...  

Abstract Background and objectives Regular blood transfusion has improved the overall survival and quality of life for patients with hereditary hemolytic anemias. Nevertheless, it carries a real risk of acquisition of blood-borne virus infections, especially viral hepatitis. The purpose of the current study is to present an Egyptian update on blood-borne hepatitis C & B viruses (HCV & HBV) and cytomegalovirus (CMV) among multi-transfused Egyptian children with hereditary hemolytic anemias, especially after implementation of national preventive programs in Egypt. Patients and methods All pediatric patients with hereditary hemolytic anemias who have regular follow-up and received frequent blood transfusion at the Pediatric Hematology Units, Menuofia and Zagazig Universities Hospitals, Egypt, during the study period, were recruited. They were tested for hepatitis B surface antigen (HBVsAg), hepatitis C antibody (HCVab), and CMV immunoglobulin M (IgM) serology. Those with positive results were confirmed by real-time polymerase chain reaction (PCR). Results Four hundred and seventy-seven hereditary hemolytic anemia patients fulfilled the study inclusion criteria. Their ages ranged from 2 to 18 years, 54.9% of them were males. Seroprevalence of HCVab and CMV-IgM were (14.7% & 6.7% respectively) and they were confirmed by PCR. None of the studied cases were HBVsAg positive. Seropositivity for HCV was significantly associated with older age of the patients, higher transfusion frequency, longer disease duration, and higher mean serum ferritin. Conclusion HCV followed by CMV infections still represent a significant problem for patients with hereditary hemolytic anemias. Nationwide plans should be taken to ensure meticulous and highly sensitive methods of blood screening before transfusion. On the other hand, it seems that HBV compulsory vaccination had succeeded to eliminate HBV infection.


Author(s):  
Ahmed Elshimy ◽  
Rasha Tolba Khattab ◽  
Hend Galal Eldeen Mohamed Ali Hassan

Abstract Background Tetralogy of Fallot (TOF) is considered the most common form of cyanotic congenital heart diseases (CHD), accounting for about 10% of cases. It includes four main cardiac defects, in addition to various extra-cardiac anomalies. Aim This study aimed to evaluate cardiac and extra-cardiac vascular defects associated with TOF among Egyptian children, regarding frequency and types with assessment of multi-slice or multi-detector computed tomography (MDCT) role in their diagnosis. Definitely, full detection of these vascular anomalies has utmost importance when evaluating such patients particularly before surgical intervention. Methods This study included 60 pediatric patients diagnosed as TOF, who underwent MDCT examination in our institute during period of 6 months from (March to September 2020), to confirm their trans-thoracic echocardiography (TTE) findings and detect other vascular abnormalities which cannot be precisely detected with TTE before their surgical interventions. Results The incidence of different extra-cardiac vascular defects diagnosed by MDCT among our patients was 85% which was significantly higher than that detected by TTE (55%). Moreover, MDCT was superior to TTE assessment as regards its diagnostic accuracy (96.6% vs. 80%), sensitivity (98% vs. 76.9%), and specificity (88.9% vs. 85.7%), in addition to both positive and negative predictive values. The most common anomalies detected were affecting the pulmonary artery (80%), followed by aorto-pulmonary vessels (45%), then aortic artery (40%), coronary arteries (20%), and lastly vena cava connection (6.7%). Patients’ demographic characteristics and clinical presentations were also presented. Conclusion This study confirmed that many extra-cardiac vascular defects are commonly associating cardiac lesions in TOF and emphasizing the great value of MDCT in their diagnosis. Certainly, proper detection of these anomalies will help decision-making during preoperative evaluation, corrective interventions, and further management of these cases.


Lupus ◽  
2021 ◽  
pp. 096120332110203
Author(s):  
Riham Eid ◽  
Ayman Hammad ◽  
Maha Abdelsalam ◽  
Aya Ahmed Fathy ◽  
Dena M Abd-El Ghafaar ◽  
...  

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.


2021 ◽  
Vol 45 (1) ◽  
Author(s):  
Amira Sayed El Refay ◽  
Shaimaa A. Hashem ◽  
Hend H. Mostafa ◽  
Iman H. Kamel ◽  
Lobna S. Sherif

Abstract Background Coronavirus Disease Pandemic 2019 has a pervasive effect on all health aspects include psychological and mental health. This study aimed to assess the hidden stressful impact of COVID-19 pandemic on Egyptian children and adolescents’ lifestyles 2 months after lockdown in Egypt by detecting symptoms of anxiety and sleep disorders. Online questionnaire was used by snowball sampling approach 2 months after lockdown targeting children and adolescents. Results The overall mean Sleep Disturbance Scale for Children score (SDSC) in participated groups was 44.6 ± 11.72. Of 765 participants 502 (65.6%) showed the symptoms suggestive of sleep disorder. Disorders of initiating and maintaining sleep were the most common among participants as 168 (33.4%) of them were suffering from it while 79 (15.7%) children were suffering from excessive somnolence. Linear stepwise regression revealed that anxiety score, understanding safety measures, and following strict quarantine measures significantly predicted SDSC (p = 0.001, 0.009, 0.046). Significant positive correlations were found between SDSC and extra screen usage, understanding safety and quarantine measures, anxiety signs, and change in child lifestyle with (p = 0.029, 0.010, 0.001 and 0.001) sequentially. Significant positive correlation was found between family income affection, SDSC, and anxiety with p value (00.001, 00.4). Conclusion Child deprived of his or her normal lifestyle is vulnerable to develop anxiety symptoms and sleep disturbances. Low income, extra screen time, and restricted quarantine measures are all contributing factors that influence children and adolescent’s mental health.


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