Publications by authors named "E A Bukhari"
Article Synopsis
- Autosomal dominant hyper IgE syndrome is a rare immune disorder affecting about one in a million people, leading to various symptoms due to its impact on multiple body systems.
- A 5-year-old boy from the Middle East was hospitalized with severe abdominal issues and kidney problems, prompting genetic testing that identified a specific variant in the STAT3 gene.
- After starting prophylactic antibiotics, the boy made a full recovery, highlighting that while deep infections are rare in this syndrome, skin and lung infections are more common and need immediate treatment.
Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency.
View Article and Find Full Text PDFIntroduction: The rapid spread and the severity of symptoms of COVID-19 led to an increasing number of critical cases that need to be admitted to intensive care units (ICUs) worldwide. Compassion is a principle of nursing practice and indicates the meaning of providing high-quality care in all units, especially in the ICU. It means that nurses know what is important to patients and when they should be there for them when it is needed.
View Article and Find Full Text PDFSPT is the most commonly used confirmatory test for an IgE-mediated milk allergy. However, food SPTs are not standardized. We aimed to assess the accuracy of SPTs with extract, diluted, and undiluted milk to detect desensitization in children with milk allergy undergoing OIT.
View Article and Find Full Text PDFMethylation of alpha-synuclein in a Sudanese cohort.
Parkinsonism Relat Disord
August 2022
Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan.
Materials And Methods: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.