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Maternal blood : potential use in prenatal screening and diagnostics

Karuppiah, Thilakavathy, Jammal Ahmad Essa, Rozita Rosli

Buletin Persatuan Genetik Malaysia, 2002;8(1):0-0.
MyJurnal

Smaller family size and advancing parental age have increased the demand for prenatal diagnosis.
Prenatal cytogenetic diagnoses currently used, such as amniocentesis and chorionic villus
sampling, are usually not preferred by the expectant couples due to the risk imposed on the mother and child. High false positive rates (5%) of current non-invasive screening methods, such as serum analysts or ultrasound, cause a large number of unnecessary invasive practices to be performed, which apart from the associated risk, place considerable psychological distress on the couples
involved (Wald et al., 1999). (Copied from article).
Fulltext Determination of polycyclic aromatic hydrocarbons in human blood samples using solid phase extraction and gas chromatography mass spectrometry- a review

Samer Al-Battawi, Yu Bin Ho, Mohd Talib Latif, Vivien How, Karuppiah Thilakavathy

Malaysian Journal of Medicine and Health Sciences, 2019;15(204):165-169.
MyJurnal

Polycyclic aromatic hydrocarbons (PAHs) are ubiquitous pollutants with toxic effects and adverse health impacts on general population. Several methods of extraction had been applied to extract PAHs from human blood samples such as solid phase extraction (SPE). The SPE represents one of the most common techniques for extraction and clean-up procedures as it needs low quantity of solvents with less manual efforts. Similarly, various analytical instruments like gas chromatography coupled to mass spectrometry (GC-MS) was used to measure the PAHs levels. Gas chromatog- raphy is a simple, fast, and very efficient method for solvents and small organic molecules. This review provides an overview of the measured concentrations of PAHs in human blood samples through the application of SPE and GC- MS during the last ten years. While these studies used various solvents, their application of SPE method and GC-MS revealed rewarding results about the determination of PAHs levels in the human samples.
Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature

Lee YL, Ting TH, Lim CT, Arrumugam-Arthini C, Karuppiah T, Ling KH

J Pediatr Endocrinol Metab, 2023 Oct 26;36(10):988-992.
PMID: 37621150 DOI: 10.1515/jpem-2023-0171

OBJECTIVES: PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence.
CASE PRESENTATION: A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines.
CONCLUSIONS: Genetic testing is essential to confirm PAX4-MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients.
Fulltext Impact of the Inflow Population From Outbreak Areas on the COVID-19 Epidemic in Yunnan Province and the Recommended Control Measures: A Preliminary Study

Sun Z, He G, Huang N, Chen H, Zhang S, Zhao Z, et al.

Front Public Health, 2020;8:609974.
PMID: 33344408 DOI: 10.3389/fpubh.2020.609974

Background: COVID-19 developed into a global pandemic in 2020 and poses challenges regarding the prevention and control capabilities of countries. A large number of inbound travelers from other regions could lead to a renewed outbreak of COVID-19 in the local regions. Globally, as a result of the imbalance in the control of the epidemic, all countries are facing the risk of a renewed COVID-19 outbreak brought about by travelers from epidemic areas. Therefore, studies on a proper management of the inbound travelers are urgent. Methods: We collected a total of 4,733,414 inbound travelers and 174 COVID-19 diagnosed patients in Yunnan province from 21 January 2020 to 20 February 2020. Data on place of origin, travel history, age, and gender, as well as whether they had suspected clinical manifestations for inbound travelers in Yunnan were collected. The impact of inbound travelers on the local epidemic was analyzed with a collinear statistical analysis and the effect of the control measures on the epidemic was evaluated with a sophisticated modeling approach. Results: Of the 174 COVID-19 patients, 60.9% were not from Yunnan, and 76.4% had a history of travel in Hubei. The amount of new daily cases in Yunnan was significant correlated with the number of inbound travelers from Hubei and suspected cases among them. Using Susceptible-Exposed-Infectious-Recovered (SEIR) model analysis, we found that the prevention and control measures dropped the local R0 down to 1.07 in Yunnan province. Conclusions: Our preliminary analysis showed that the proper management of inbound travelers from outbreak areas has a significantly positive effect on the prevention and control of the virus. In the process of resettlement, some effective measures taken by Yunnan province may provide an important reference for preventing the renewed COVID-19 outbreak in other regions.