Publications by authors named "Jwan Shekhy"
Article Synopsis
- Spinal muscular atrophy (SMA) is a serious genetic disorder with limited treatment options, and its prevalence needs more research in Arab countries due to high rates of consanguinity.* -
- A study involved diagnosing SMA in 171 patients and newborn screenings in 1,502 Emirati infants, revealing a carrier frequency of 1.3% and an incidence of 1 in 7,122 live births for the disease in the UAE.* -
- Results indicate that implementing premarital genetic screening could significantly reduce SMA cases and save healthcare costs, highlighting the need for wider screening practices in Arab populations.*
Article Synopsis
- Human herpesvirus 6 (HHV-6), specifically the HHV-6B species, is linked to most primary infections and reactivation events.
- A case series revealed three instances of HHV-6 encephalitis in children aged 9 months to 2 years, all showing the virus in their cerebrospinal fluid (CSF), including two immunocompetent cases.
- The study emphasizes the need for HHV-6 to be considered in differential diagnoses for central nervous system infections in children and supports using CSF HHV-6 PCR tests for accurate detection and timely treatment.
Congenital nephrotic syndrome, historically defined by the onset of large proteinuria during the first 3 months of life, is a rare clinical disorder, generally with poor outcome. It is caused by pathogenic variants in genes associated with this syndrome or by fetal infections disrupting podocyte and/or glomerular basement membrane integrity. Here we describe an infant with congenital CMV infection and nephrotic syndrome that failed to respond to targeted antiviral therapy.
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