Publications by authors named "W Shoman"

Background: Primary ciliary dyskinesia (PCD) is a chronic respiratory illness that places significant strain on the healthcare system due to the complexity and expense of its diagnosis and treatment methods. The diagnostic process typically requires skilled technicians and an assortment of intricate, costly, and time-consuming approaches. Implementing screening tools can enhance efficiency by focusing the diagnostic process on those strongly suspected of having PCD.

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Article Synopsis
  • Lipoid proteinosis (LP) is a rare genetic disorder caused by mutations in the ECM1 gene, leading to symptoms like hoarseness, skin lesions, and neuropsychological issues.
  • Researchers conducted clinical evaluations and genetic testing on eight patients from four unrelated Arab families, identifying two new ECM1 variants and two known variants.
  • The study highlights intrafamilial differences in patient symptoms while confirming that exon 6 is a common site for mutations in the ECM1 gene.
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This research investigates carbon footprint impacts for full fleet electrification of Swedish passenger car travel in combination with different charging conditions, including electric road system (ERS) that enables dynamic on-road charging. The research applies a prospective life cycle analysis framework for estimating carbon footprints of vehicles, fuels, and infrastructure. The framework includes vehicle stock turnover modeling of fleet electrification and modeling of optimal battery capacity for different charging conditions based on Swedish real-world driving patterns.

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Introduction: Early recognition of an anaphylaxis event is crucial for instituting lifesaving management. We sought to explore knowledge and practice towards anaphylaxis in a sample of physicians from ten Egyptian governorates.

Methods: An eighteen question-based questionnaire was developed by expert allergists to evaluate the knowledge and practice towards anaphylaxis, based on the World Allergy Organization guidelines for the assessment and management of anaphylaxis.

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LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficiency disorder, OMIM (#614700). LRBA deficiency patients suffer from variable manifestations including recurrent infections, immune dysregulation, autoimmunity, cytopenias, and enteropathy. This study describes different clinical phenotypes and immunological characteristics of 18 LRBA deficiency patients diagnosed from Egypt.

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