Publications by authors named "M M Bitzan"
The efficacy of the B cell-targeting drug rituximab (RTX) in childhood idiopathic nephrotic syndrome (INS) suggests that B cells may be implicated in disease pathogenesis. However, B cell characterization in children with INS remains limited. Here, using single-cell RNA sequencing, we demonstrate that a B cell transcriptional program poised for effector functions represents the major immune perturbation in blood samples from children with active INS.
View Article and Find Full Text PDFPresent evidence regarding the efficacy and safety of levamisole in childhood nephrotic syndrome (NS), particularly the steroid-sensitive NS (SSNS), is limited. We searched relevant databases such as PubMed/MEDLINE, Embase, Google Scholar, and Cochrane CENTRAL till June 30, 2020. We included 12 studies for evidence synthesis (5 were clinical trials that included 326 children).
View Article and Find Full Text PDFArticle Synopsis
- Significant healthcare challenges are posed by rare diseases in underserved areas like the Middle East, which lack genomic diagnostic services.
- A clinical genomics facility was established in the UAE to diagnose and manage rare disease patients, utilizing methods like exome sequencing and chromosomal microarrays, demonstrating a cumulative diagnostic yield of 32.5%.
- The majority of diagnosed Mendelian disorders were identified in young patients, with many receiving delayed diagnoses due to limited access to genetic testing, highlighting the importance of local genomic services for timely management.
Background: Peritonitis is an important complication and cause of morbidity in patients undergoing peritoneal dialysis (PD). Corynebacterium species, often considered skin and mucosal contaminants, are a rare cause of PD-associated peritonitis and have been acknowledged in published guidelines for the diagnosis and treatment of PD peritonitis only over the last decade.
Case-diagnosis/treatment: We present two children with difficult-to-treat episodes of PD peritonitis due to Corynebacterium amycolatum.
We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility.
View Article and Find Full Text PDF