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A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient

Chear CT, Ripen AM, Mohamed SA, Dhaliwal JS

Gene, 2015 Apr 15;560(2):245-8.
PMID: 25680287 DOI: 10.1016/j.gene.2015.02.019

Bruton's tyrosine kinase (BTK), encoded by the BTK gene, is a cytoplasmic protein critical in B cell development. Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA), a primary immunodeficiency with characteristically low or absent B cells and antibodies. This report describes a five year-old boy who presented with otitis externa, arthritis, reduced immunoglobulins and no B cells. Flow cytometry showed undetectable monocyte BTK expression. Sequencing revealed a novel mutation at exon 13 of the BTK gene which created a de novo splice site with a proximal 5 nucleotide loss resulting in a truncated BTK protein. The patient still suffered from ear infection despite intravenous immunoglobulin replacement therapy. In this study, mosaicism was seen only in the mother's genomic DNA. These results suggest that a combination of flow cytometry and BTK gene analysis is important for XLA diagnosis and carrier screening.
Fulltext Dural tear post mastoidectomy repaired with Dura Gen

Wong CY, Khairi MD, Mohamed SA, Irfan M

Med J Malaysia, 2010 Dec;65(4):307-8.
PMID: 21901952

Dural exposure may occur during the course of thinning the tegmen tympani and tegmen mastoideum in mastoid procedure. If large area of dura is exposed or lacerated, cerebrospinal fluid and brain herniation may enter the mastoid cavity. We report a case of a patient with injured dura mater and tegmen mastoideum during mastoidectomy for chronic suppurative otitis media with cholesteatoma managed by using DuraGen. The dura mater and tegmen defect healed totally showing the success of the procedure. A collagen matrix like DuraGen is an option for repairing dural tear in mastoid region.
Unplanned PICU Readmission in a Middle-Income Country: Who Is at Risk and What Is the Outcome?

Mat Bah MN, Syed Mohamed SA, Abdullah N, Alias EY

Pediatr Crit Care Med, 2020 11;21(11):e959-e966.
PMID: 32590834 DOI: 10.1097/PCC.0000000000002406

OBJECTIVES: To study the rate of unplanned PICU readmission, determine the risk factors and its impact on mortality.
DESIGN: A single-center retrospective cross-sectional study.
SETTING: Tertiary referral PICU in Johor, Malaysia.
PATIENTS: All children admitted to the PICU over 8 years were included. Patients readmitted into PICU after the first PICU discharge during the hospitalization period were categorized into "early" (within 48 hr) and "late" (after 48 hr), and factors linked to the readmissions were identified. The mortality rate was determined and compared between no, early, and late readmission.
INTERVENTIONS: None.
MEASUREMENTS AND MAIN RESULTS: There were 2,834 patients in the study with 70 early and 113 late readmissions. Therefore, the rate of early and late PICU readmission was 2.5% (95% CI, 1.9-3.0%) and 3.9% (95% CI, 3.2-4.7%), respectively. The median length of stay of the second PICU admission for early and late readmissions was 2.7 days (interquartile range, 1.1-7.0 d) and 3.2 days (interquartile range, 1.2-7.5 d), respectively. The majority of early and late readmissions had a similar diagnosis with their first PICU admission. Multivariable multinomial logistic regression revealed a Pediatric Index Mortality 2 score of greater than or equal to 15, chronic cardiovascular condition, and oxygen supplement upon discharge as independent risk factors for early PICU readmission. Meanwhile, an infant of less than 1 year old, having cardiovascular, other congenital and genetic chronic conditions and being discharged between 8 AM and 5 PM was an independent risk factor for late readmission. There was no significant difference in the mortality rate of early (12.9%), late (13.3%), and no readmission (10.7%).
CONCLUSIONS: Despite the lack of resources and expertise in lower- and middle-income countries, the rate and factors for PICU readmission are similar to those in high-income countries. However, PICU readmission has no statistically significant association with mortality.

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