1.Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR
Norlelawati AT ; Mohd Danial G ; Nora H ; Nadia O ; Zatur Rawihah K ; Nor Zamzila A ; Naznin M
The Malaysian Journal of Pathology 2016;38(1):11-18
Background: Synovial sarcoma (SS) is a rare cancer and accounts for 5-10% of adult soft tissue
sarcomas. Making an accurate diagnosis is difficult due to the overlapping histological features of SS
with other types of sarcomas and the non-specific immunohistochemistry profile findings. Molecular
testing is thus considered necessary to confirm the diagnosis since more than 90% of SS cases carry
the transcript of t(X;18)(p11.2;q11.2). The purpose of this study is to diagnose SS at molecular level
by testing for t(X;18) fusion-transcript expression through One-step reverse transcriptase real-time
Polymerase Chain Reaction (PCR). Method: Formalin-fixed paraffin-embedded tissue blocks of 23
cases of soft tissue sarcomas, which included 5 and 8 cases reported as SS as the primary diagnosis
and differential diagnosis respectively, were retrieved from the Department of Pathology, Tengku
Ampuan Afzan Hospital, Kuantan, Pahang. RNA was purified from the tissue block sections and
then subjected to One-step reverse transcriptase real-time PCR using sequence specific hydrolysis
probes for simultaneous detection of either SYT-SSX1 or SYT-SSX2 fusion transcript. Results:
Of the 23 cases, 4 cases were found to be positive for SYT-SSX fusion transcript in which 2 were
diagnosed as SS whereas in the 2 other cases, SS was the differential diagnosis. Three cases were
excluded due to failure of both amplification assays SYT-SSX and control β-2-microglobulin. The
remaining 16 cases were negative for the fusion transcript. Conclusion: This study has shown that
the application of One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript
is feasible as an aid in confirming the diagnosis of synovial sarcoma.
2.Procalcitonin as a sepsis marker: Experience of an intensive care setting in Malaysia
Basri MAT NOR ; Azrina M. RALIB ; Abdul Hadi MOHAMED ; Nor Zamzila ABDULLAH
Brunei International Medical Journal 2013;9(4):243-252
Introduction::
During infection, there is increased expression of CALC-I gene resulting in ubiquitous release of procalcitonin (PCT). Since the expression of PCT is dependent on the genetic constituents of a population, this study aimed to validate the diagnostic performance of PCT in differentiating sepsis from noninfectious systemic inflammatory response syndrome (SIRS) in a Malaysian intensive care unit (ICU).
Materials and Methods::
Ninety-five patients fulfilling the criteria for SIRS were enrolled. Daily concentrations of PCT, C-reactive protein (CRP) and white cell count (WCC) were measured over three days. The diagnostic and predictive performance of these biomarkers were assessed using area under the curve of the ROC.
Results::
In this study, medical and surgical cohorts had similar PCT concentrations. Peak (p=0.02) and daily PCT (p<0.001) concentrations were significantly higher in patients with sepsis compared to SIRS. There were no significant differences in the CRP and WCC concentrations between the two groups. Peak PCT was significantly higher in patients with bacteraemia than those without (49.1 [19.3- 57] vs. 6.9 [1.1-25.6 ng/ml], p=0.001). PCT was diagnostic of sepsis and bacteraemia (AUC of 0.73 [0.64-0.83] and 0.80 [0.66-0.93] respectively). Peak PCT was significantly higher in septic patients with culture positive compared to culture negative (p=0.02). At the optimal cut-point of 10.68 ng/ml for peak PCT, sepsis was very likely with specificity of 86% and psotive predictive value (PPV) of 91%. There was a good correlation between PCT concentration and the Sequential Organ Failure Assessment (SOFA) score in the sepsis cohort (r=0.62, p<0.0001).
Conclusion:
PCT was better than CRP or WCC in differentiating sepsis from non-infectious SIRS in critically-ill patients. PCT is diagnostic of sepsis and bacteraemia, and is also useful as an indicator of severity of organ failure in sepsis.
3.Preliminary study on association of β2 - Adrenergic Receptor Polymorphism with hypertension in hypertensive subjects attending Balok Health Centre, Kuantan
AE Atia ; K Norsidah ; A Nor Zamzila ; M Rafidah Hanim ; D Samsul ; MAM Aznan ; AR Rashidah ; AT Norlelawati
The Medical Journal of Malaysia 2012;67(1):25-30
Polymorphisms within the β2-adrenergic receptor (ADRB2)
gene have been repeatedly linked to hypertension. Among
the ADRB2 polymorphisms detected, Arg16Gly and Gln27Glu
codons are considered the two most important variations.
The amino acid substitution at these codons may lead to
abnormal regulation of ADRB2 activity. The aim of the
present study was to assess the association between ADRB2
polymorphisms and hypertension. This case-control study
consisted of 100 unrelated subjects (50 hypertensive and 50
matched normal controls). Arg16Gly and the Gln27Glu
polymorphisms were analyzed by polymerase chain reactionrestriction
fragment length polymorphism assay. There were
no significant evidence of association in allelic and
genotypes distribution of Arg16Gly and Glu27Gln with
blood pressure and hypertension. These findings suggest
that the variation within codon 16 and 27 of ADRB2 gene
were unlikely to confer genetic susceptibility for
hypertension in our population samples.

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