Publications by authors named "M B Zariwala"
Article Synopsis
- - A study evaluated the management of primary ciliary dyskinesia (PCD) in pediatric participants using a multicenter, observational approach, collecting data on therapy types and their annual usage.
- - Over 137 participants were monitored for 13 years, finding that nearly all received antibiotics, with a significant number using cephalosporins and chronic azithromycin, and older patients tended to utilize more therapies.
- - Results indicated that therapy usage varies significantly, often correlating with age and specific types of ciliary defects, highlighting the need for more disease-specific research to better understand the effectiveness of these treatments.
Article Synopsis
- PCD (Primary Ciliary Dyskinesia) and CF (Cystic Fibrosis) are both genetic diseases that affect how the lungs work and cause issues from a young age, but PCD is thought to be milder, even though evidence is limited.
- The study wanted to see how children with PCD compare to those with CF in terms of health over time, especially focusing on children with certain severe forms of PCD.
- They found that kids with PCD and the severe type had lower lung function than kids with CF, but their nutrition was similar, with more CF kids getting sick from bacteria in their lungs than PCD kids.
This study aims to develop an innovative microencapsulation method for coated Polymyxin B, utilizing various polysaccharides such as hydroxypropyl β-cyclodextrin, alginate, and chitosan, implemented through a three-fluid nozzle (3FN) spray drying process. High-performance liquid chromatography (HPLC) analysis revealed that formulations with a high ratio of sugar cage, hydroxypropyl β-cyclodextrin (HPβCD), and sodium alginate (coded as ALGCDP) resulted in a notable 16-fold increase in Polymyxin B recovery compared to chitosan microparticles. Morphological assessments using fluorescence labeling confirmed successful microparticle formation with core/shell structures.
View Article and Find Full Text PDFVariation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental. Our approach using complementary RNA-seq and targeted long-read DNA sequencing can prioritize identification of non-coding variants that lead to disease via alteration of gene splicing or expression. We have identified a patient with primary ciliary dyskinesia with a pathogenic coding variant on one allele of the SPAG1 gene, while the second allele appears normal by whole exome sequencing despite an autosomal recessive inheritance pattern.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects. Diagnosis relies on a combination of tests for confirmation, including nasal nitric oxide (nNO) measurements, high-speed videomicroscopy analysis (HSVMA), immunofluorescent staining, axonemal ultrastructure analysis via transmission electron microscopy (TEM), and genetic testing. Notably, there is no single gold standard confirmatory or exclusionary test.
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