Displaying all 3 publications

  1. Le DQ, Satyanarayana B, Fui SY, Shirai K
    Biol Trace Elem Res, 2018 Dec;186(2):538-545.
    PMID: 29577182 DOI: 10.1007/s12011-018-1313-2
    The present study, aimed at observing the total concentration of mercury (Hg) in edible finfish species with an implication to human health risk, was carried out from the Setiu mangrove wetlands on the east coast of Peninsular Malaysia. Out of 20 species observed, the highest Hg concentrations were found among carnivores-fish/invertebrate-feeders, followed by omnivores and carnivores-invertebrate-feeders, while the lowest concentrations in herbivores. The Hg concentrations varied widely with fish species and body size, from 0.12 to 2.10 mg/kg dry weight. A positive relationship between body weight and Hg concentration was observed in particular for Toxotes jaculatrix and Tetraodon nigroviridis. Besides the permissible range of Hg concentration up to 0.3 mg/kg (cf. United States Environmental Protection Agency (USEPA)) in majority of species, the carnivore feeders such as Acanthopagrus pacificus, Gerres filamentosus, and Caranx ignobilis have shown excess amounts (> 0.40 mg/kg flesh weight) that raising concerns over the consumption by local people. However, the weekly intake of mercury-estimated through the fish consumption in all three trophic levels-suggests that the present Hg concentrations are still within the range of Provisional Tolerable Weekly Intake (PTWI) reported by the Joint FAO/WHO Expert Committee on Food Additives (JECFA). Perhaps, a multi-species design for Hg monitoring at Setiu wetlands would be able to provide further insights into the level of toxicity transfer among other aquatic organisms and thereby a strong health risk assessment for the local communities.
  2. Lachs L, Johari NAM, Le DQ, Safuan CDM, Duprey NN, Tanaka K, et al.
    Mar Pollut Bull, 2019 Nov;148:85-96.
    PMID: 31422307 DOI: 10.1016/j.marpolbul.2019.07.059
    Pulau Redang and Pulau Tioman have experienced huge tourism growth over the last two decades, but minimal sewage treatment may threaten the resilience of their coral reefs. This study uses stable isotope techniques to identify suitable bioindicators of sewage nutrients (δ15N) at these islands by measuring macroalgae (Lobophora spp.), gastropods (Drupella spp.), scleractinian coral (Acropora spp.), and leather coral (Sinularia spp.). At tourist hubs using seepage septic tank systems, enrichment of Acropora δ15N (Redang, +0.7‰) and Sinularia δ15N (Tioman, +0.4‰) compared to pristine background levels indicate enhanced sewage nutrient discharge. Carbon isotopes and survey data suggest that sedimentation did not confound these δ15N trends. Potential damaging effects of sewage discharge on the coral reef communities at both islands are highlighted by strong correlations between Acropora δ15N and regional variation in coral reef community structure, and exclusive occurrence of degraded reefs at regions of high sewage influence.
  3. Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, et al.
    Genet Med, 2022 Dec;24(12):2453-2463.
    PMID: 36305856 DOI: 10.1016/j.gim.2022.08.007
    PURPOSE: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects.

    METHODS: Patients with CBHA in 176 families were genetically examined using exome sequencing. Patients with disease-causing variants were clinically evaluated.

    RESULTS: Disease-causing variants were identified in 96 of the 176 families (54.5%). After excluding 6 families, 48 patients from 42 families were categorized as having syndromic associations with CBHA, whereas the remaining 51 patients from 48 families had isolated CBHA. In 51 patients, 26 aberrant genes were identified, of which, 20 (76.9%) caused disease in 1 family each. The most prevalent genes were CACNA1A, ITPR1, and KIF1A. Of the 26 aberrant genes, 21 and 1 were functionally annotated to atrophy and hypoplasia, respectively. CBHA+S was more clinically severe than CBHA-S. Notably, ARG1 and FOLR1 variants were identified in 2 families, leading to medical treatments.

    CONCLUSION: A wide genetic and clinical diversity of CBHA was revealed through exome sequencing in this cohort, which highlights the importance of comprehensive genetic analyses. Furthermore, molecular-based treatment was available for 2 families.

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