1.Secondary polycythaemia in a Malay girl with homozygous Hb Tak
Hanizah Salwa AMRAN ; Mimi Azura AZIZ ; Elizabeth GEORGE ; Noraesah MAHMUD ; Tze Yan LEE ; Sabariah Md NOOR
The Malaysian Journal of Pathology 2017;39(3):321-326
Hb Tak is one of more than 200 high affinity haemoglobin variants reported worldwide. It resultsfrom the insertion of two nucleotides (AC) at the termination codon, between codon 146 and codon147 of the beta-globin gene [Beta 147 (+AC)]. Polycythaemia is the main clinical feature althoughaffected carriers are usually asymptomatic and do not require intervention. Several case studies inthis region have reported the co-inheritance of Hb Tak with Hb E, delta beta and beta thalassaemiawith one case of homozygous Hb Tak in a Thai boy. In this case report, a cluster of haemoglobinTak was found in a family of Malay ethnic origin. Cascade family screening was conducted whileinvestigating a 4-year old girl who presented with symptomatic polycythaemia. She had 2 previousHb analysis done, at 7-month and 2-year-old with the diagnosis of possible Hb Q Thailand andHomozygous Hb D, respectively. Both diagnosis did not fit her clinical presentations. She was plethoric,had reduced exercise tolerance as well as cardiomyopathy. Her parents were consanguineouslymarried and later diagnosed as asymptomatic carriers of Hb Tak. Consequently, re-analysis of thegirl’s blood sample revealed a homozygous state of Hb Tak. In conclusion, high oxygen affinityhaemoglobin like Hb Tak should be considered in the investigation of polycythaemic patients withabnormal Hb analyses. In this case, DNA analysis was crucial in determining the correct diagnosis.
2.Use of Paclitaxel Coated Drug Eluting Technology to Improve Central Vein Patency for Haemodialysis Access Circuits: Any Benefit?
Tze Tec CHONG ; Hao Yun YAP ; Chieh Suai TAN ; Qingwei Shaun LEE ; Sze Ling CHAN ; Ian Jun YAN WEE ; Tjun Yip TANG
Vascular Specialist International 2020;36(1):21-27
Purpose:
Central venous stenosis is a recurring problem affecting dialysis access patency. Increasing evidence suggests that the use of drug-coated balloons (DCBs) improves target lesion primary patency (TLPP) in dialysis access. However, few studies have investigated the use of DCBs specifically in central venous stenosis. Thus, this study presents our initial experience with DCBs in the central vein of a dialysis access circuit.
Materials and Methods:
This is a retrospective cohort study of all hemodialysis patients who underwent central vein angioplasty with DCB between February 2017 and March 2018 at Singapore General Hospital. We compared the primary patency post DCB angioplasty to the primary patency of the patient’s previous plain old balloon angioplasty (POBA).
Results:
We observed a 100% anatomic and procedural success rate with no complications. The median follow-up period was 151 days (interquartile range, 85.5- 234 days) and no patients were lost to follow-up. The 30- and 90-day TLPPs after DCB were 93.3% and 75.7%, respectively. The mean primary patency in our study group post-DCB during the follow-up period was 164 days (vs. 140 days in the POBA group). However, no statistically significant difference was detected.
Conclusion
DCB showed a similar TLPP to that for POBA in treating central venous stenosis with a trend toward a longer re-intervention-free period for DCB. However, there were numerous confounding factors and a well-designed randomized controlled trial is warranted to assess the true utility of DCB in treating central venous stenosis.
3.Evaluation of the Luminex ARIES HSV 1&2 Assay and Comparison with the FTD Neuro 9 and In-house Real-Time PCR Assays for Detecting Herpes Simplex Viruses.
Chun Kiat LEE ; Chean Nee CHAI ; Sharah Mae CAPINPIN ; Alynn ANG ; Sau Yoke NG ; Peak Ling LEE ; Christopher Wai Siong NG ; Gabriel YAN ; Hong Kai LEE ; Lily Lily CHIU ; Roland JUREEN ; Benedict YAN ; Tze Ping LOH
Annals of Laboratory Medicine 2018;38(5):440-445
BACKGROUND: Human herpes simplex virus type 1 (HSV-1) and type 2 (HSV-2) are responsible for a plethora of human diseases, of which cutaneous and mucocutaneous infections are the most prevalent. In its most severe form, HSV infection can cause meningitis/encephalitis. We compared the Luminex ARIES HSV 1&2 assay (Luminex Corp., Austin, TX, USA), an automated sample-to-result molecular solution, to two non-automated HSV DNA assays. METHODS: A total of 116 artificial controls were used to determine the analytical performance of the ARIES assay. Controls were prepared by spiking universal transport medium (UTM) and cerebrospinal fluid (CSF) samples from patients who tested negative for HSV by an in-house HSV-1 and -2 DNA assay with reference materials (SeraCare Life Sciences, MA, USA; ZeptoMetrix Corp., MA, USA). Another 117 clinical samples were then used to compare the clinical performance of the ARIES assay with those of an in-house assay and the FTD Neuro 9 assay (Fast Track Diagnostics, Junglinster, Luxembourg). RESULTS: The analytical sensitivity (95% limit of detection) of the ARIES assay was 318 copies/mL (UTM samples) and 935 copies/mL (CSF samples) for HSV-1 strain 96 and 253 copies/mL (UTM samples) and 821 copies/mL (CSF samples) for HSV-2 strain 09. No cross-reactivity was observed in samples spiked with 14 non-HSV microorganisms. Compared with the reference result (agreement between the in-house and FTD Neuro 9 results), the ARIES assay had overall concordance rates of 98.2% (111/113) and 100% (113/113) for HSV-1 and HSV-2, respectively. CONCLUSIONS: The ARIES assay appears to be an excellent alternative for rapid detection and differentiation of HSV in skin and genital infections, meningitis, and encephalitis.
Biological Science Disciplines
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Cerebrospinal Fluid
;
DNA
;
Encephalitis
;
Herpes Simplex*
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Herpesvirus 1, Human
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Herpesvirus 2, Human
;
Humans
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Meningitis
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Real-Time Polymerase Chain Reaction*
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Simplexvirus*
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Skin