CASE PRESENTATIONS: We report the first two human cases from Sabah, Borneo, Malaysia which expands the global reach of this important pathogen. Here, we illustrate their epidemiological risk factors, clinical presentation and resulting sequelae of both patients.
CONCLUSION: The continued public health threat of zoonotic infections such as S.suis, highlights the need for accurate epidemiological surveillance, regulation of pig farming, slaughtering and continued advocacy of best practices for pork preparation and consumption.
RESULTS: We analyzed the whole-genome deep sequencing data (~ 30×) of five native trios from Peninsular Malaysia and North Borneo, and characterized the genomic variants, including single nucleotide variants (SNVs), small insertions and deletions (indels) and copy number variants (CNVs). We discovered approximately 6.9 million SNVs, 1.2 million indels, and 9000 CNVs in the 15 samples, of which 2.7% SNVs, 2.3% indels and 22% CNVs were novel, implying the insufficient coverage of population diversity in existing databases. We identified a higher proportion of novel variants in the Orang Asli (OA) samples, i.e., the indigenous people from Peninsular Malaysia, than that of the North Bornean (NB) samples, likely due to more complex demographic history and long-time isolation of the OA groups. We used the pedigree information to identify de novo variants and estimated the autosomal mutation rates to be 0.81 × 10- 8 - 1.33 × 10- 8, 1.0 × 10- 9 - 2.9 × 10- 9, and ~ 0.001 per site per generation for SNVs, indels, and CNVs, respectively. The trio-genomes also allowed for haplotype phasing with high accuracy, which serves as references to the future genomic studies of OA and NB populations. In addition, high-frequency inherited CNVs specific to OA or NB were identified. One example is a 50-kb duplication in DEFA1B detected only in the Negrito trios, implying plausible effects on host defense against the exposure of diverse microbial in tropical rainforest environment of these hunter-gatherers. The CNVs shared between OA and NB groups were much fewer than those specific to each group. Nevertheless, we identified a 142-kb duplication in AMY1A in all the 15 samples, and this gene is associated with the high-starch diet. Moreover, novel insertions shared with archaic hominids were identified in our samples.
CONCLUSION: Our study presents a full catalogue of the genome variants of the native Malaysian populations, which is a complement of the genome diversity in Southeast Asians. It implies specific population history of the native inhabitants, and demonstrated the necessity of more genome sequencing efforts on the multi-ethnic native groups of Malaysia and Southeast Asia.
Case presentation: A 29-year-old man presented with pneumonia and melioidosis septicaemia. His condition was complicated with infective endocarditis and septic emboli to the brain. Despite difficulties in reaching a diagnosis, the patient was successfully treated using intravenous gentamicin and ceftazidime and was discharged well.
Discussion: The role of gentamicin in the treatment of the gentamicin-susceptible strain of B. pseudomallei remains unclear.
METHODS: Miri General Hospital is a remote center in Sarawak, Malaysia, serving a population with difficult access to neurosurgical services. Two neurosurgeons were stationed here on a rotational basis every fortnight during the pandemic to handle neurosurgical cases. Patients were triaged depending on their urgent needs for surgery or transfer to a neurosurgical center and managed accordingly. All patients were screened for potential risk of contracting COVID-19 prior to the surgery. Based on this, the level of personal protective equipment required for the health care workers involved was determined.
RESULTS: During the initial 6 weeks of the Movement Control Order in Malaysia, there were 50 urgent neurosurgical consultations. Twenty patients (40%) required emergency surgery or intervention. There were 9 vascular (45%), 5 trauma (25%), 4 tumor (20%), and 2 hydrocephalus cases (10%). Eighteen patients were operated at Miri General Hospital, among whom 17 (94.4%) survived. Ninety percent of anticipated transfers were avoided. None of the medical staff acquired COVID-19.
CONCLUSIONS: This framework allowed timely intervention for neurosurgical emergencies (within a safe limit), minimized transfer, and enabled uninterrupted neurosurgical services at a remote center with difficult access to neurosurgical care during a pandemic.