Publications by authors named "Reem B Mohamed"
Article Synopsis
- Lower urinary tract dysfunction (LUTD) in children with cerebral palsy (CP) and other neuromuscular diseases can lead to severe complications like hydronephrosis and recurrent urinary tract infections (UTIs).
- When conservative treatments fail, cutaneous vesicostomy (CV) is a surgical option that can help protect the urinary tract and is generally well-tolerated.
- A study of 52 patients identified 9 with complicated LUTD who underwent CV, resulting in significant improvement in hydronephrosis and a reduction in UTIs, although some required further interventions for kidney stones.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma) is a novel gene therapy medicine, FDA-approved in May 2019 for the treatment of SMA. This study aimed to describe Qatari experience with onasemnogene abeparvovec by reviewing the clinical outcomes of 9 SMA children (7 SMA type 1 and 2 with SMA type 2) aged 4‒23 months treated between November 2019 and July 2020.
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- The study examines the prevalence and characteristics of congenital LAMA2-RD in 21 patients from Gulf and Middle Eastern families, revealing distinct clinical features and a relatively high point prevalence of 0.8 in 100,000 in Qatar.
- The affected patients exhibited classic symptoms like hypotonia and muscular weakness, with none achieving independent walking; unique associated features such as nephrocalcinosis and cardiac arrest were documented for the first time.
- Genetic analysis revealed LAMA2 mutations as responsible for 48% of cases, highlighting a common founder mutation found in multiple families, including novel and recurrent variants affecting LAMA2 function.