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Fulltext Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities

Thong MK, See-Toh Y, Hassan J, Ali J

Genet Med, 2018 10;20(10):1114-1121.
PMID: 30093710 DOI: 10.1038/s41436-018-0135-0

Advances in genetic and genomic technology changed health-care services rapidly in low and middle income countries (LMICs) in the Asia-Pacific region. While genetic services were initially focused on population-based disease prevention strategies, they have evolved into clinic-based and therapeutics-oriented service. Many LMICs struggled with these noncommunicable diseases and were unprepared for the needs of a clinical genetic service. The emergence of a middle class population, the lack of regulatory oversight, and weak capacity-building in medical genetics expertise and genetic counseling services led to a range of genetic services of variable quality with minimal ethical oversight. Some of the current shortcomings faced include the lack of awareness of cultural values in genetic health care, the variable stages of socioeconomic development and educational background that led to increased demand and abuse of genetics, the role of women in society and the crisis of gender selection, the lack of preventive and care services for genetic and birth defects, the issues of gene ethics in medicine, and the lack of understanding of some religious controversies. These challenges provide opportunities for both developing and developed nations to work together to reduce the inequalities and to ensure a caring, inclusive, ethical, and cost-effective genetic service in the region.
Gastrointestinal stromal tumour in a jejunal diverticulum: The eighth reported case worldwide with a brief review of the literature

Chiew SF, Toh YF, Looi LM, Cheah PL

Malays J Pathol, 2023 Dec;45(3):473-478.
PMID: 38155388

Jejunal diverticulosis is uncommon and so are gastrointestinal stromal tumours (GIST) arising in the jejunum. GIST arising in a jejunal diverticulum is a rarity and to date there are only 7 cases in the English literature. Our case of GIST occurring in a jejunal diverticulum of a 48-year-old lady would be the first reported in Malaysia and the 8th in the world. As in most cases, the clinical presentation and radiological findings of this patient were non-specific. With a history of acute abdominal pain, vomiting and fever, the patient was provisionally diagnosed as a case of twisted ovarian cyst and subjected to laparotomy. An intact roundish jejunal diverticulum 5.0 cm x 5.0 cm, about 50 cm distal to the duodeno-jejunal junction was found and resected with a segment of small intestine. Microscopic examination showed a tumour of the cut open diverticular wall, with epithelioid to spindled cells, demonstrating a mitotic rate of 1-2 per 5 mm2, confined to, while infiltrating the wall of the diverticulum. The immunohistochemical profile of positive staining for CD117, DOG-1, smooth muscle actin and CD34, and negative expression of desmin and S100 protein, clinched the diagnosis of GIST. Based on the AFIP Criteria for risk stratification,1 the patient was categorised as having moderate risk for disease progression, and was not offered further targeted imatinib as an immediate measure. The patient has remained well at the time of writing i.e. 8 months following excision, and continues on active surveillance by the surgical and oncological teams, with the option of imatinib, should the necessity arise. This case is presented not merely for the sake of documenting its rarity, but as a reminder to stay alert for uncommon conditions in histopathology practice.
Phyllodes tumours of the breast: retrospective analysis of a University Hospital's experience

Toh YF, Cheah PL, Looi LM, Teoh KH, Tan PH

Malays J Pathol, 2016 Apr;38(1):19-24.
PMID: 27126660

Taking cognizance of the purported variation of phyllodes tumours in Asians compared with Western populations, this study looked at phyllodes tumours of the breast diagnosed at the Department of Pathology, University of Malaya Medical Centre over an 8-year period with regards to patient profiles, tumour parameters, treatment offered and outcome. Sixty-four new cases of phyllodes tumour were diagnosed during the period, however only 30 (21 benign, 4 borderline and 5 malignant) finally qualified for entry into the study. These were followed-up for 4-102 months (average = 41.7 months). Thirteen cases (8 benign, 3 borderline, 2 malignant) were Chinese, 9 (all benign) Malay, 7 (4 benign, 1 borderline, 2 malignant) Indian and 1 (malignant) Indonesian. Prevalence of benign versus combined borderline and malignant phyllodes showed a marginally significant difference (p=0.049) between the Malays and Chinese. Patients' ages ranged from 21-70 years with a mean of 44.9 years with no significant difference in age between benign, borderline or malignant phyllodes tumours. Except for benign phyllodes tumours (mean size = 5.8 cm) being significantly smaller at presentation compared with borderline (mean size = 12.5 cm) and malignant (mean size = 15.8 cm) (p<0.05) tumours, history of previous pregnancy, breast feeding, hormonal contraception and tumour laterality did not differ between the three categories. Family history of breast cancer was noted in 2 cases of benign phyllodes. Local excision was performed in 17 benign, 2 borderline and 3 malignant tumours and mastectomy in 4 benign, 2 borderline and 2 malignant tumours. Surgical clearance was not properly recorded in 10 benign phyllodes tumours. Six benign and all 4 borderline and 5 malignant tumours had clearances of <10 mm. Two benign tumours recurred locally at 15 and 49 months after local excision, however information regarding surgical clearance was not available in both cases. One patient with a malignant tumour developed a radiologically-diagnosed lung nodule 26 months after mastectomy, was given a course of radiotherapy and remained well 8-months following identification of the lung nodule.
ERRATUM: Phyllodes tumours of the breast: retrospective analysis of a University Hospital's experience

Toh YF, Cheah PL, Looi LM, Teoh KH, Tan PH

Malays J Pathol, 2016 08;38(2):175.
PMID: 27568677

No abstract available.
Cyclooxygenase-2 (COX2) expression in adenocarcinoma surpasses that of squamous cell carcinoma in the uterine cervix

Marutha Muthu AK, Cheah PL, Koh CC, Chew MF, Toh YF, Looi LM

Malays J Pathol, 2017 Dec;39(3):251-255.
PMID: 29279587 MyJurnal

Over the years, adenocarcinoma (ADC), which has a worse prognosis than squamous cell carcinoma (SCC) of the cervix, has shown an increasing trend. Cyclooxygenase-2 (COX2) expression which has been associated with worse prognosis in several solid cancers was studied for its association with SCC and ADC of the cervix. 35 histologically re-confirmed SCC and 35 ADC were immunohistochemically stained for COX2 using a mouse monoclonal antibody to COX2 (1:100; Dako: Clone CX-294) on a Ventana Benchmark XT. The histoscore was computed as intensity of staining, semi-quantitated on a scale of 0-3 with 0 = negative, 1 = weak, 2 = moderate and 3 = strong staining intensity; multiplied by percentage of immunopositivity on a scale of 0-4 with 0 = <1%, 1 = 1-25%, 2 = 26-50%, 3 = 51-75% and 4 = ≥75% of immunopositive tumour cells. Histoscore 1-3/12 was considered as low and ≥4/12 as high COX2 expression. SCC affected Chinese more than Malays, while Malays had more ADC (p = 0.032). Mean age at presentation of SCC (57.5 years) was about a decade later than ADC at 47.9 years (p = 0.002). 30/35 (85.7%) of SCC and 34/35 (97.1%) of ADC expressed COX2. Histoscores of ADC (median = 4.0, IQR = 3.0-6.0) was significantly higher (p = 0.014) than those of SCC (median = 3.0, IQR = 2.0-3.0). High histoscores (≥4/12) were more frequent in ADC (55.9%) compared with SCC (26.7%) (p = 0.018), implicating COX2, either directly or indirectly, as a possible player in influencing the poorer outcome of ADC compared with SCC.
Fulltext Adaptation of a Theory-Based Mobile App to Improve Access to HIV Prevention Services for Transgender Women in Malaysia: Focus Group Study

Gautam K, Shrestha R, Dlamini S, Razali B, Paudel K, Azwa I, et al.

JMIR Form Res, 2024 Aug 13;8:e56250.
PMID: 39137407 DOI: 10.2196/56250

BACKGROUND: Globally, transgender women have been disproportionately affected by the HIV epidemic, including in Malaysia, where an estimated 11% of transgender women are living with HIV. Available interventions designed specifically to meet transgender women's needs for HIV prevention are limited. Mobile health, particularly smartphone mobile apps, is an innovative and cost-effective strategy for reaching transgender women and delivering interventions to reduce HIV vulnerability.
OBJECTIVE: This study aims to adapt a theory-based mobile health HIV prevention smartphone app, HealthMindr, to meet the unique needs of transgender women in Malaysia. We conducted theater testing of the HealthMindr app with transgender women and key stakeholders and explored barriers to transgender women's uptake of HIV pre-exposure prophylaxis (PrEP).
METHODS: From February to April 2022, a total of 6 focus group (FG) sessions were conducted with 29 participants: 4 FG sessions with transgender women (n=18, 62%) and 2 FG sessions with stakeholders (n=11, 38%) providing HIV prevention services to transgender women in Malaysia. Barriers to PrEP uptake and gender-affirming care services among transgender women in Malaysia were explored. Participants were then introduced to the HealthMindr app and provided a comprehensive tour of the app's features and functions. Participants provided feedback on the app and on how existing features should be adapted to meet the needs of transgender women, as well as any features that should be removed or added. Each FG was digitally recorded and transcribed. Transcripts were coded inductively using Dedoose software (version 9.0.54; SocioCultural Research Consultants, LLC) and analyzed to identify and interpret emerging themes.
RESULTS: Six subthemes related to PrEP barriers were found: stigma and discrimination, limited PrEP knowledge, high PrEP cost, accessibility concerns, alternative prevention methods, and perceived adverse effects. Participants suggested several recommendations regarding the attributes and app features that would be the most useful for transgender women in Malaysia. Adaptation and refinement of the app were related to the attributes of the app (user interface, security, customizable colors, themes, and avatars), feedback, and requests for additional mobile app functional (appointment booking, e-consultation, e-pharmacy, medicine tracker, mood tracker, resources, and service site locator) and communication (peer support group, live chat, and discussion forum) features.
CONCLUSIONS: The results reveal that multifaceted barriers hinder PrEP uptake and use among transgender women in Malaysia. The findings also provide detailed recommendations for successfully adapting the HealthMindr app to the context of Malaysian transgender women, with a potential solution for delivering tailored HIV prevention, including PrEP, and increasing accessibility to gender-affirming care services.