Rohan W. Jayasekara

Microbiome of the placenta in pre-eclampsia supports the role of bacteria in the multifactorial cause of pre-eclampsia

This study was aimed at detecting, identifying, quantifying and comparing the bacteria present in the placental tissues of women with pre‐eclampsia with that of normotensive pregnant women.

Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women

Aim:  Genetic thrombophilias are known to contribute to adverse pregnancy outcomes. Studies in Western populations show that 5, 10‐methylenetetrahydrofolate reductase (MTHFR) 677C>T and Factor V (F5) 1691G>A (Leiden) polymorphisms are commonly associated with pre‐eclampsia and recurrent spontaneous pregnancy loss. The objective of this study was to investigate the association of MTHFR 677C>T (rs1801133); 1298A>C (rs1801131) and F5 1691G>A (rs6025); 4070A>G (rs1800595) polymorphisms with pre‐eclampsia and recurrent pregnancy loss among Sinhalese women in Sri Lanka.

Vascular endothelial growth factor family gene polymorphisms in preeclampsia in Sinhalese women in Sri-Lanka

Objective: To investigate the association of polymorphisms in the vascular endothelial growth factor (VEGF) family genes (VEGFA rs699947, VEGFA rs3025039, PGF rs1042886, KDR rs2071559 and KDR rs2305948) with preeclampsia in Sinhalese women in Sri-Lanka. Methods: We conducted a case-control study where 175 nulliparous Sinhalese women with preeclampsia and 171 normotensive women matched for age, ethnicity, parity and BMI were recruited in tertiary care maternity hospitals in Sri-Lanka. Preeclampsia was diagnosed using international guidelines. DNA extracted from peripheral venous blood and was genotyped using the Sequenom MassARRAY system. χ2-test was used to compare the distribution of allele and genotype frequencies between the cases and the control subjects. Results: The frequency of PGF rs1042886 variant allele (odds ratio (OR) 1.5, 95% confidence interval (CI) 1.1–2.1) and dominant genotype model (aOR 1.6, 95% CI 1.0–2.4) were increased in preeclamptic women compared to controls. VEGFA rs699947, VEGFA rs3025039, KDR rs2071559, and KDR rs2305948 polymorphisms were not associated with preeclampsia. Conclusion: Maternal PGF rs1042886 polymorphism is associated with preeclampsia in Sinhalese women in Sri-Lanka.

The urine protein heat coagulation test—a useful screening test for proteinuria in pregnancy in developing countries: a method validation study

In many parts of the developing world, the urine protein heat coagulation test is routinely used to screen for proteinuria in pregnancy. The aim of this study was to determine whether ≥1+ on a standardised heat coagulation test reliably detects significant proteinuria and to compare it with the dipstick test for urinary protein. Heat coagulation test, dipstick test and 24‐hour urine protein excretion results of 102 women were compared. ≥1+ on heat coagulation test is as sensitive and specific as ≥2+ on the dipstick test in detecting proteinuria of ≥500 mg/day. The heat coagulation test, however, is less sensitive than ≥1+ on dipstick in detecting lesser degrees of proteinuria.

Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population — implications for association study design and clinical genetic testing services

We investigated the prevalence of genotypes/alleles of single nucleotide polymorphisms (SNP) and haplotypes defined by them in three genes in which variations are associated with venous thromboembolism in 80 Sinhalese, 80 Sri Lankan Tamils and 80 Moors in the Sri Lankan population and compared the SNP data with that of other populations in Southern India and haplotype data with that of HapMap populations. The genes and polymorphisms investigated were Methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133), 1298A>C (rs1801131), 1317T>C, 1793G>A (rs2274976); Factor V (F5) - 1691G>A (rs6025) and 4070A>G (rs1800595); and prothrombin (F2) - 20210G>A (rs1799963). The polymorphisms were genotyped using PCR/RFLP methods. The prevalence of the variant alleles of each polymorphism in the Sinhalese, Tamils, and Moors was MTHFR 677T: Sinhalese - 13%, Tamils - 9%, Moors - 9%. 1317T>C: Sinhalese - 0%; Tamils - 0%; Moors - 0%. 1793A: Sinhalese - 19%, Tamils - 19%, Moors - 19%. F5 1691A: Sinhalese - 2%, Tamils - 3%, Moors - 2%. 4070G: Sinhalese - 6%, Tamils - 5%, Moors - 8%. F2 20210A: Sinhalese - 0%, Tamils - 0%, Moors - 0%. The frequencies observed were similar to data from other South Indian populations; the haplotype data showed haplotypes unique to the Sri Lankan population when compared to HapMap populations. rs9651118 was identified as a SNP that splits the haplotypes harbouring the functionally significant 677T allele in the MTHFR gene. This data would be useful in planning genetic association studies in the Sri Lankan population and in deciding on which genetic variants should be tested in a clinical genetic testing service.

Anatomical relations of the superficial sensory branches of the radial nerve: a cadaveric study with clinical implications

BackgroundAnatomically, it is difficult to give a systematic description of the superficial branch of the radial nerve (SBRN). Our aim was to describe the exact relationship of the SBRN to fixed bony points of radial styloid and Listers tubercle, and to the cephalic vein. We also compared our data with other international studies.MethodsThe study was a descriptive anatomical study. Twenty-five forearms were dissected. Measurements were made from predefined fixed reference points.ResultsThe mean distance to the point of emergence of the nerve from the radial styloid was 8.54 cm (SD = 1.32). The nerve branched at a mean distance of 5.57 cm (SD = 1.43) from the radial styloid. The mean distance to the point where the most medial and most lateral branches of the nerve crossing the wrist joint, measured from the Listers tubercle were 2.51 cm (SD = 0.53) and 3.90 cm (SD = 0.64). In 17 specimens(68%) cephalic vein crossed the SBRN superficially once. Mean distance from the radial styloid to the most distal point where the vein crossed the nerve was 5.10 cm. Diffefrence between mean distance to the point of emergence and branching point, when compared with other international studies were not statistically significant. (P value > 0.05)ConclusionsWe recommend avoiding transverse incisions in the snuffbox region between 2.51 cm and 3.90 cm from the Listers tubercle. We also recommend avoiding cannulation of the cephalic vein in the distal forearm.

Attitudes towards the new genetic and assisted reproductive technologies in Sri Lanka: A preliminary report

Discussions about the ethical and social impacts of the new reproductive and genetic technologies have tended to be dominated by concerns that have originated in European and North American societies. In this paper, we explore perspectives on these issues from a distinctively Asian perspective. Using a questionnaire-based descriptive study, we examined the attitudes of 36 Sri Lankan Medical Officers following a course preparing them for the Master of Surgery (Obstetrics and Gynaecology) Part I examination in Colombo. The survey highlights an extremely positive response to many aspects of the new technologies in contrast to the long-standing ambivalence towards prenatal diagnosis and the prospect of therapeutic termination. We end by discussing some of the ways in which ideas about re-birth and fate may influence the reception of the new technologies among some doctors.

A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation in which the gonads of an individual are characterized by the presence of both mature ovarian and testicular tissues. The objective of this paper is to report the clinical, cytogenetic and histopathological findings in Sri Lankan patients diagnosed with OT-DSD who were referred to the Human Genetics Unit for cytogenetic evaluation during 2005 to 2011. Five patients had histopathologically confirmed OT-DSD. Their ages at presentation ranged from 2 mo to 47 yr. Clinical symptoms varied from ambiguous genitalia and inguinal hernias at birth to a lower abdominal mass presenting in adulthood. All 5 were reared as phenotypic males. An ovotestis was detected in all cases except one, and the predominant karyotype was 46,XY. The findings in this series of predominantly 46,XY karyotype are in contrast to previously published reports that have reported 46,XX as being the predominant karyotype. It is therefore recommended that individuals with ambiguous genitalia who have the 46,XY karyotype should be thoroughly investigated by ultrasonographic or laparoscopic assessment to determine the exact nature of their internal genital organs. OT-DSD should also be considered in the differential diagnosis of patients with cryptorchidism and inguinal hernia.

A study of three candidate genes for pre‐eclampsia in a Sinhalese population from Sri Lanka

Aim:  The aim of these investigations was to study three candidate genes for pre‐eclampsia – epidermal growth factor (EGF), transforming growth factor alpha, and angiotensinogen – in pregnant Sinhalese women from Sri Lanka, the first such study undertaken in this ethnic group. Reproducibility of results of genetic association studies of candidate genes for pre‐eclampsia has not been consistent across populations. One of the factors that may contribute to such inconsistencies is genetic stratification due to population admixture. We therefore compared the allele frequencies of these candidate genes in healthy Sri Lankan subjects from three ethnic groups – Sinhalese, Sri Lankan Tamils and Moors – and in white Western Europeans.

Genetic polymorphism of orosomucoid (ORM) in populations of the United Kingdom, Indian subcontinent, and Cambodia.

SummaryThe genetic variation of the human serum orosomucoid (ORM) was investigated by isoelectric focusing (IEF) followed by immunofixation in 15 different populations from East Midlands (United Kingdom), India, Sri Lanka, and Cambodia. Statistically significant differences were observed between various Asiatic and British populations, however differences within Asiatic and European populations were minor. The distribution of ORM1 alleles in populations investigated to date suggests an interesting east-west geographical cline. There is a suggestion that present day wide polymorphism at the ORM1 locus may be influenced by selection.