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An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

Tan SL, Ahmad Narihan MGB, Koa AJ

BMC Pediatr, 2023 Oct 28;23(1):541.
PMID: 37898736 DOI: 10.1186/s12887-023-04376-5

BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS.
CASE PRESENTATION: Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia.
CONCLUSIONS: The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype.
Fulltext Prevalence, risk factors and association with gallstone disease of non-alcoholic fatty liver disease among rural indigenous communities: A cross-sectional study in Sarawak, Malaysia

Yew TT, Cheah WL, Koa AJ, Chow HB

Malays Fam Physician, 2025;20:8.
PMID: 40093926 DOI: 10.51866/oa.634

INTRODUCTION: This study aimed to evaluate the prevalence and risk factors of non-alcoholic fatty liver disease (NAFLD) among Dayak communities in Malaysia, shedding light on an underexplored population.
METHODS: A cross-sectional study was undertaken among Dayak villagers in Sarawak aged 18 years and above using an interview-based questionnaire, followed by an anthropometric measurement, a blood test and an abdominal ultrasound.
RESULTS: A total of 324 participants met the inclusion criteria. Among them, 42.9% were men, and the mean age was 49.85±14.9 years. The prevalence of NAFLD was substantially high at 58%, with 43.1% of the participants having mild fatty liver (grade 1). NAFLD was closely associated with waist circumference and body mass index (BMI) (P<0.001). Central obesity, as indicated by waist circumference and BMI, emerged as a potent risk factor, with higher values correlating with an increased likelihood of NAFLD. A higher prevalence of NAFLD was observed in the participants with an advancing age, an elevated triglyceride level (66.7%) and a lower high-density lipoprotein cholesterol level (81.6%). However, these associations did not remain significant in the multivariate analysis. Gallstones, which share common risk factors with NAFLD, were not significantly associated with NAFLD in this population (P=0.853).
CONCLUSION: This study defines the prevalence and association of NAFLD with sociodemographic characteristics, health profiles and gallstone disease among indigenous villages in Dayak communities. A high BMI and central obesity are found to be independent risk factors of NAFLD.
Fulltext Radiological Study of the Ethmoidal Arteries in the Nasal Cavity and Its Pertinence to the Endoscopic Surgeon

Kho JPY, Tang IP, Tan KS, Koa AJ, Prepageran N, Rajagopalan R

Indian J Otolaryngol Head Neck Surg, 2019 Nov;71(Suppl 3):1994-1999.
PMID: 31763282 DOI: 10.1007/s12070-018-1415-3

We studied the ethmoidal arteries using preexisting computer tomography of the paranasal sinuses (CT PNS) and statistically scrutinized data obtained between genders. A descriptive study from 77 CT PNS dated January 2016-December 2016 were collected and reviewed by two radiologists. A total of 54 (108 sides) CT PNS were studied of patients aged 18-77 years. 37 are male, 17 are female; with Bumiputera Sarawak predominance of 25 patients, 12 Malays, 16 Chinese and one Indian. Rate of identification are as follows: anterior ethmoidal artery (AEA)-100%, middle ethmoidal artery (MEA)-30%, posterior ethmoidal artery (PEA)-86%. The average distance from AEA-MEA is 8.1 ± 1.52 mm, MEA-PEA is 5.5 ± 1.29 mm and AEA-PEA is 12.9 ± 1.27 mm. The mean distance from PEA-the anterior wall of sphenoid is 7.7 ± 3.96 mm, and PEA-optic canal is 8.5 ± 3.1 mm with no statistical difference when compared between gender. AEA frequently presented with a long mesentery 57.4%, while 87.1% of PEA was hidden in a bony canal. The vertical distance of the AEA-skull base ranges from 0 to 12.5 mm whilst PEA-skull base is 0-4.7 mm. There is no statistical difference in distances of AEA, MEA nor PEA to skull base when analyzed between genders; t(82) = 1.663, p > 0.05, t(32) = 0.403, p > 0.05 and t(75) = 1.333, p > 0.05 respectively. We newly discovered, that 50% of MEA is hidden in a bony canal, and its distance to skull base ranged 0-5.3 mm. MEA and PEA less commonly have a short or long mesentery. Knowledge on the ethmoidal arteries especially in our unstudied population of diverse ethnicity, gains to assist surgeons worldwide, when embarking in endoscopic transnasal surgeries.
Prevalence and clinical correlates of positive aldosterone-to-renin ratio screening in obese hypertensive patients with obstructive sleep apnea: a Southeast Asian cross-sectional study

Loh HH, Tay SP, Koa AJ, Yong MC, Said A, Chai CS, et al.

J Hum Hypertens, 2026 Sep;40(9):755-762.
PMID: 42570943 DOI: 10.1038/s41371-026-01195-w

Although routine screening for primary aldosteronism (PA) is increasingly recognized among patients with obstructive sleep apnea (OSA), data regarding aldosterone-to-renin ratio (ARR) screening positivity among Southeast Asian OSA populations remain limited, particularly in resource-limited settings. This study aimed to determine the prevalence and clinical correlates of ARR positivity screening among obese hypertensive OSA patients. In this cross-sectional study, obese hypertensive adults with confirmed OSA were recruited. Blood samples were analyzed for plasma aldosterone concentration (PAC), plasma renin concentration (PRC), serum potassium, and standard metabolic indices. Therapeutic intensity score (TIS) was used to quantify antihypertensive burden. ARR-based categories were applied to stratify patients into (i) positive ARR (Group 1), (ii) low renin/negative ARR (Group 2), or (iii) negative ARR (Group 3). Among 160 patients, 11.9% were classified in Group 1 and 20.0% as Group 2. Serum potassium levels were significantly lower in Group 2 compared with Group 3. An inverse association between PRC and uric acid was observed in the overall cohort, although the model fit was weak. In males, serum potassium, uric acid, and TIS were significantly associated with RAAS activity and were associated with greater likelihood for ARR positive screen. A substantial proportion of obese hypertensive OSA patients demonstrated ARR positivity. However, routine clinical and metabolic parameters alone were insufficient to reliably identify affected individuals. These findings support maintaining a low threshold for PA screening in hypertensive OSA patients.