Research Papers

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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
(ORIGINAL ARTICLE, 2019) Cauley,Edmund S; Hamed,Ahlam; Mohamed,Inaam N; Maha,Elseed; Martinez,Samantha; Yahia,Ashraf; Abozar,Fatima; Abubakr,Rayan; Koko,Mahmoud; Elsayed,Liena; Piao,Xianhua; Salih,Mustafa A; Manzini,M. Chiara
Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia with elongated cerebellar peduncles leading to the molar tooth sign. While the malformation is reminiscent of bilateral frontoparietal polymicrogyria (BFPP), the phenotype is more severe than previously reported and also includes features of Joubert syndrome (JBTS). Via exome sequencing, we identified homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556, which are known to cause BFPP and mild brain-specific JBTS, respectively. This study shows how two independent mutations can interact leading to complex brain malformations.
Effect of Creative Teaching Intervention for Adolescents with Severe Refractory Asthma on their Own Medications Adherence, Asthma Control and Hospital Readmission
(International Egyptian Journal of Nursing Sciences and Research (IEJNSR), 2024) Hassan, Ghada.A.; Mohammed, Esraa Gamal; Mohamed, Rawia Abd El-ghany
Background: Severe refractory asthma characterized by difficulty in achieving disease control despite high-intensity treatment. Asthma burden is particularly notable in adolescents and associated with higher rates of prevalence and mortality compared with younger children. So, healthcare professionals should dedicate their effort to educate adolescents with severe refractory asthma. Aim: evaluate the effect of creative teaching intervention for adolescents with severe refractory asthma on their own medications' adherence, asthma control, and hospital readmission. Research design: A quasi- experimental design. Setting: The pediatric in-patient wards at Benha University Hospital. Sample: It is composed of 100 adolescents with severe refractory asthma who attended in the previous setting during study period. Tools of data collection: Tool I; Structured Interview Questionnaire, Tool II; observation checklist, Tool III: Asthma Morisky Medication Adherence Scale, Tool IV; Asthma Control Test. Tool V; Assessment sheet for asthma outcomes. Results: Less than two thirds of the adolescents in study group had high medication adherence level, and approximately two thirds of them had well asthma control, in addition to, two thirds did not readmit to the hospital after 30 post intervention with statistically significant differences between study and control group after the intervention. Conclusion: creative teaching intervention impacted positively on adolescent's knowledge level, practice, medications adherence, asthma control and decrease hospital readmission. Recommendation: Further studies for implementation of other creative teaching interventions for enhancement of asthma care should be done.