Background: Malaysia is the first country in the Western Pacific Region to receive the validation certificate for the elimination of mother-to-child transmission of human immunodeficiency virus (HIV). The validation report recommends making sexual and reproductive health and rights of women living with HIV a priority. This article explores and assesses the sexual and reproductive health, rights, and access to healthcare services of Malaysia’s women living with HIV (WLHIV). Methods: A qualitative secondary analysis conducted on 73 WLHIV from all over Malaysia comprised 11 in-depth interviews and 16 focus group discussions. Data were extracted from the original interview transcripts that emerged from the following questions: (1) “What are your experiences as a woman living with HIV in relation to your sexual and reproductive health and rights?” (2) “What are your experiences in accessing contraception?” (3) “What are your day-to-day experiences as a woman living with HIV?” Data were analyzed using thematic analysis. Results: Four themes emerged from the study findings: “lack of negotiation,” “idealism in pregnancy,” “coping with restrictions,” and “past and future fears.” The four themes are grounded in religion, a patriarchal culture, meaning and expectations of motherhood, taking risks and going against medical advice to pursue fertility desires, fear of HIV transmission, and the side effects of contraceptive use. Conclusion The complexities involved in decision-making regarding contraceptive use revealed how WLHIV may have unresolved reproductive health needs inconsistent with healthcare providers’ focus on HIV management and prevention. Suggestions are made for improving the sexual and reproductive health and rights of WLHIV in Malaysia, which include establishing a reproductive health counseling program.

Background & Objective: Circulating microRNAs (miRNAs) expressions have been suggested as potential biomarkers for Parkinson’s Disease (PD). Identification of early biomarkers for PD is important and crucial as PD symptoms occur at a late stage. Hence, these biomarkers could be used in molecular diagnosis for early detection. We therefore examined and compared the expression of circulating miRNAs between PD patients and controls. We also compared the miRNAs expression between early-onset PD (EOPD) and late-onset PD (LOPD). Methods: RNA was extracted from the plasma of EOPD (onset age <50 years; n=14), LOPD (onset age < 60 years; n=14) and healthy controls (n=11). The miRNAs expression was determined using the Affymetrix GeneChip microarray. Differential analysis was performed using the R software. Significantly differentiated miRNAs were subsequently analyzed for functional enrichment and biological pathway using the FunRich v1.3 software based on the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. The Omics.net was used to determine the predicted target mRNAs of these miRNAs, and their interactions, based on the five most differentially expressed miRNAs. Results: In total, 273 miRNAs were upregulated in PD patients compared to controls. The most significant miRNAs were hsa-miR-301a-3p, 100-5p, 140-5p, 486-3p, 143-3p (fold change ranging from 11.2 – 32.0). A total of 140 circulating miRNAs were differentially expressed in EOPD compared to LOPD. Five of these miRNAs (one upregulated miRNA (hsa-miR-29b-3p) and four downregulated miRNAs (hsa-miR-297, 4462, 1909-5p and 346) belonged exclusively to the EOPD patients. The predicted gene targets of these miRNAs involved in dopaminergic synapse regulation, crucial to the pathogenesis of PD. Conclusion: Circulating miRNAs differ between PD patients and controls, and between EOPD and LOPD patients. A validation study with a larger and more diverse multi-ethnic population should be conducted to confirm our results.

Autoimmune haemolytic anaemia (AIHA) is a group of disorders wherein autoantibody causes decompensated acquired haemolysis. There has been no epidemiological study of autoimmune haemolytic anaemia (AIHA) in Malaysia. This study retrospectively analysed the epidemiology of AIHA including Evan’s Syndrome in a Tertiary Haematology Centre in Malaysia. Patients diagnosed with AIHA and Evan’s Syndrome at 18 years old and above between 1 January 1994 to 1 October 2020 at the out-patient Haematology Clinic of Hospital Raja Permaisuri Bainun, Ipoh were selected. Patients’ information was retrieved from the outpatient clinic records. A total of 71 patients were included of which predominantly female. The mean age for both genders were comparable. Ethnic stratification revealed AIHA was higher in Malays followed by Chinese and Indian. Warm AIHA was most prevalent at 40.8%, compared to cold AIHA and Evan’s Syndrome (both 23.9%), and mixed AIHA (11.3%). Primary was more common than secondary AIHA followed by Evan’s Syndrome. Approximately half of the secondary AIHA and secondary Evan’s Syndrome were due to SLE. Overall, 67.6% of patients received corticosteroid only and 28.2% combined with immunosuppressant. Individuals at higher age and females have higher risk of developing AIHA and Evan’s Syndrome. The highest prevalence was seen among the Malay ethnic. Primary warm AIHA is the most common type and majority of Evan’s syndrome are secondary to autoimmune diseases.

Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a congenital defect in the Mullerian duct that results in the absence of a uterus in women. The aetiology of this syndrome is unknown and has been considered a sporadic genetic disease. MRKH, together with anorectal anomaly, is an extremely rare condition and has only been reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula) was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit (ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3, STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them, the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27 biological processes that connected with 23 interactions, and are likely to cause MRKH syndrome in this patient.