Modern mangroves are among the most carbon-rich biomes on Earth, but their long-term (≥106 years) impact on the global carbon cycle is unknown. The extent, productivity and preservation of mangroves are controlled by the interplay of tectonics, global sea level and sedimentation, including tide, wave and fluvial processes. The impact of these processes on mangrove-bearing successions in the Oligo-Miocene of the South China Sea (SCS) is evaluated herein. Palaeogeographic reconstructions, palaeotidal modelling and facies analysis suggest that elevated tidal range and bed shear stress optimized mangrove development along tide-influenced tropical coastlines. Preservation of mangrove organic carbon (OC) was promoted by high tectonic subsidence and fluvial sediment supply. Lithospheric storage of OC in peripheral SCS basins potentially exceeded 4,000 Gt (equivalent to 2,000 p.p.m. of atmospheric CO2). These results highlight the crucial impact of tectonic and oceanographic processes on mangrove OC sequestration within the global carbon cycle on geological timescales.
The Sandakan Formation of the Segama Group is exposed across the Sandakan Peninsular in eastern Sabah. This Upper Miocene part of the Segama Group unconformably overlies the Garinono Formation and is conformably overlain by the Bongaya Formation. This formation was investigated with detailed logging of outcrops and microfossils analysis in order to map the depositional facies and sedimentary environment. This study showed the presence of seven lithofacies: Thick amalgamated sandstone; thin, lenticular interbedded HCS sandstones and mudstone; laminated mudstone with Rhizophora; trough cross-bedded sandstone; laminated mudstone; strip mudstone with thin sandstone and siltstone; and interbedded HCS sandstone and mudstone. Based on the presence of Rhizophora, Brownlowia, Florchuetia sp., Polypodium, Stenochleana palustris, Ascidian spicule low angle cross bedding, very fine grained sandstone, thin alternations of very fine sandstone, silt and clay layers showing cyclicity (muddy rhythemites), rocks in the Sandakan Formation are interpreted as mangal estuary and open marine facies. Three facies associations could be deduced from the seven lithofacies: Gradual coarsening upwards shoreface; abrupt change facies and prograding estuary facies association.
Acute leukaemia may rarely present as diffuse papules, nodules and plaques forming leonine facies. Leukaemia cutis generally carries a poor prognosis, and responds less well to chemotherapy. We described a case of acute myelomonocytic leukaemia presenting as leonine facies as a result of extensive cutaneous infiltration. The patient did not achieve haematological remission following standard induction chemotherapy and succumbed 6 weeks after the diagnosis was made.
This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18-25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05) but no significant difference was found between races. Out of the 286 subjects, 49 (17.1%) were of ideal facial shape, 156 (54.5%) short and 81 (28.3%) long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts.
Sixty-nine novel α,β-unsaturated carbonyl based compounds, including cyclohexanone, tetralone, oxime, and oxime ether analogs, were synthesized. The antiproliferative activity determined by using seven different human cancer cell lines provided a structure-activity relationship. Compound 8ag exhibited high antiproliferative activity against Panc-1, PaCa-2, A-549, and PC-3 cell lines, with IC50 value of 0.02 μM, comparable to the positive control Erlotinib. The ten most active antiproliferative compounds were assessed for mechanistic effects on BRAF(V600E), EGFR TK kinases, and tubulin polymerization, and were investigated in vitro to reverse efflux-mediated resistance developed by cancer cells. Compound 8af exhibited the most potent BRAF(V600E) inhibitory activity with an IC50 value of 0.9 μM. Oxime analog 7o displayed the most potent EGFR TK inhibitory activity with an IC50 of 0.07 μM, which was analogous to the positive control. Some analogs including 7f, 8af, and 8ag showed a dual role as anticancer and MDR reversal agents.
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder that is classically associated with intractable diarrhea with an onset within the first few months of life. Herein, we investigated and reported novel mutations in two causal genes in 3 Malaysian cases. Genomic DNA was extracted from peripheral blood obtained from patients in two Malaysian Chinese families. The exons of SKIV2L and TTC37 genes were amplified and sequenced by bi-directional sequencing to identify the point mutations within the coding sequence. Three Chinese boys from two families with characteristic features and clinical course were diagnosed with THES. In family-1, two point mutations were identified in the SKIV2L gene (c.1891G>A and c.3187C>T). In family-2, a single-nucleotide duplication (c.3426dupA) was found in the TTC37 gene. These mutations cause the production of abnormal non-functional gene product leading to the clinical manifestations in the patients. We reported three point mutations, which have not been previously described in other patients with THES in SKIV2L and TTC37 genes, including one nonsense, one frameshift, and one missense mutations.
The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal; however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal imbalances.
26 cases of congenital hypothyroidism were diagnosed at the Penang General Hospital from 1979 to 1993. Therewere 19 femalesand7males, thefemaletomaleratiowas2 .7 : 1. All three main ethnic groups were almost equally afflicted (10 Chinese,8Malays,8 Indians). The mean age at diagnosis was 15.8 months (range 21 days — 9 years) and only 11 (42.3%) patients were diagnosed within thefirst three months of life. 19 (73.7%) patients were diagnosed within thefirstyear and 7 (26.3%) after the firstyear. The correct referral diagnosis was made in less than half (n = 11) of the patients, with a mean of 2.3 doctors being consulted prior to the diagnosis. The five most common clinical features were coarse facies (n = 22), dry skin (n = 22), macroglossia (n = 21), lethargy (n = 20) and constipation (n = 19). The develop-ment quotient was appropriate for chronologi-cal age in less than one third (n = 8) of patients while the school performance was at least average in only less than one third (n = 5) of school-goers (n = 16). The mean (SD) T4 at diagnosis was 23.7 (12.2) nmollL while the mean (SD) TSH at diagnosis was 72.7 (37.0) mUIL. In the light of these clinical findings, screening for congenital hypothyroidism with a view to early diagnosis and prompt treatment are strongly recommended.
Groundwater in fractured metasedimentary rock in Malaysia is a potential source of water for drinking and industrial uses. Industries including agricultural processing, mineral water bottling, manufacturing and golf courses pumped the water from the underlying fractured rocks. Fifty eight tubewells belong to private companies operating in various places in West Coast of Peninsular Malaysia were evaluated for their yield and quality of water. Rotary percussion methods were used for the drilling to a maximum depth of 200 m. The productivity of the wells and the characteristics of the aquifer were evaluated by pumping test using both the constant discharge rate and steps drawdown methods. The average yield of the wells at allowable drawdown of 40 m was found to be 416 m3 per day. Results from water quality analysis indicated that the water was fresh with an average total dissolved solids (TDS) concentration of 101 to 150 mg/L. The hardness of the water varies from as low as 13 mg/L to a maximum of 353 mg/L. On the average, the water was moderately hard with the average hardness value of 80 mg/L. The water facies of the groundwater was found to be of calcium-sodium-bicarbonate water.
PurposeGenome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common challenge in GWAS is the interpretation of signals, which are usually attributed to the genes closest to the polymorphic markers that display the strongest statistical association. Naturally occurring complete loss of function (knockout) of these genes in humans can inform GWAS interpretation by unmasking their deficiency state in a clinical context.MethodsWe exploited the unique population structure of Saudi Arabia to identify novel knockout events in genes previously highlighted in GWAS using combined autozygome/exome analysis.ResultsWe report five families with homozygous truncating mutations in genes that had only been linked to human disease through GWAS. The phenotypes observed in the natural knockouts for these genes (TRAF3IP2, FRMD3, RSRC1, BTBD9, and PXDNL) range from consistent with, to unrelated to, the previously reported GWAS phenotype.ConclusionWe expand the role of human knockouts in the medical annotation of the human genome, and show their potential value in informing the interpretation of GWAS of complex traits.
A comprehensive study of the chemical composition of rainwater was carried out from October 2016 to September 2017 in the equatorial tropical rainforest region of northwestern Borneo. Monthly cumulative rainwater samples were collected from different locations in the Limbang River Basin (LRB) and were later categorized into seasonal samples representing northeast monsoon (NEM), southwest monsoon (SWM), and inter-monsoon (IM) periods. Physical parameters (pH, EC, TDS, DO, and turbidity), major ions (HCO3-, Cl-, Ca2+, Mg2+, Na+, and K+) and trace metals (Co, Ni, Cd, Fe, Mn, Pb, Zn, and Cu) were analyzed from collected rainwater samples. Rainwater is slightly alkaline with mean pH higher than 5.8. Chloride and bicarbonate are the most abundant ions, and the concentration of major ions in seasonal rainwater has shown slight variation which follows a descending order of HCO3-> Cl-> Na+ > Ca2+ > Mg2+ > K+ in NEM and Cl- > HCO3- > Na+ > Ca2+ > K+ > Mg2+ in SWM and Cl- > HCO3- > Na+ > Ca2+ > Mg2+ > K+ in IM period. Trace metals such as Fe and Ni have shown dominance in seasonal rainwater samples, and all the metals have shown variation in concentration in different seasons. Variation in chemical characteristic of seasonal rainwater samples identified through piper diagram indicates dominance of Ca2+-Mg2+-HCO3- and mixed Ca2+-Mg2+-Cl- facies during NEM, SWM, and IM periods. Statistical analysis of the results through two-way ANOVA and Pearson's correlation also indicates significant variation in physico-chemical characteristics. This suggests a variation in contributing sources during the monsoon seasons. Factor analysis confirmed the source variation by explaining the total variance of 79.80%, 90.72%, and 90.52% with three factor components in NEM, SWM, and IM rainwater samples with different loading of parameters. Enrichment factor analysis revealed a combined contribution of marine and crustal sources except K+ which was solely from crustal sources. Sample analysis of backward air mass trajectory supports all these findings by explaining seasonal variation in the source of pollutants reaching the study area. Overall, the results show that the chemical composition of seasonal rainwater samples in LRB was significantly influenced by natural as well as anthropogenic processes. These include (long-range and local) industrial activities, fossil fuel combustion, forest burning, transportation activities including road transport and shipping activities, and land-derived soil dust along with chemical constituents carried by seasonal wind.
Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P
Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value
We have developed and characterised a mouse model of Japanese encephalitis virus (JEV) infection via
footpad inoculation in order to better mimic viral transmission by mosquito bites. Two-week-old and
5-week-old mice consistently developed signs of infection such as ruffled fur, weight loss, hunchback
posture, tremors, mask-like facies and occasionally, hindlimb paralysis at 4 days post infection (dpi)
and 11-13 dpi, respectively. Most of the animals died within 24 to 48 hours following the onset of signs
of infection, with mortalities of 100% and 33.3% in 2-week-old and 5-week-old mice, respectively.
Mild meningitis and variable parenchymal inflammation with formation of microglial nodules, focal
necrosis and neuronophagia, and perivascular cuffing by inflammatory cells were observed in the
caudate nucleus, putamen, thalamus, cerebral cortex, brainstem, and spinal cord. Viral antigens/RNA
were demonstrated by immunohistochemisty and in situ hybridization, respectively, in most of these
areas as well as in the hippocampus and cerebellum, albeit more focally. The pathological findings in
this mouse model were generally similar to human Japanese encephalitis (JE) and other established JE
models but perhaps, compared to other JEV mouse models, it demonstrates lethal encephalitic infection
more consistently. We believe that our mouse model should be useful to study the pathogenesis of JE,
and for testing anti-viral drugs and vaccines
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P