The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many ...populations. Cost and technology limitations remain the challenges in performing large-scale genome sequencing projects in many developing countries, including Vietnam. As one of the most rapidly adopted genetic tests, non-invasive prenatal testing (NIPT) data offers an alternative untapped resource for genetic studies. Here we performed a large-scale genomic analysis of 2683 pregnant Vietnamese women using their NIPT data and identified a comprehensive set of 8,054,515 single-nucleotide polymorphisms, among which 8.2% were new to the Vietnamese population. Our study also revealed 24,487 disease-associated genetic variants and their allele frequency distribution, especially 5 pathogenic variants for prevalent genetic disorders in Vietnam. We also observed major discrepancies in the allele frequency distribution of disease-associated genetic variants between the Vietnamese and other populations, thus highlighting a need for genome-wide association studies dedicated to the Vietnamese population. The resulted database of Vietnamese genetic variants, their allele frequency distribution, and their associated diseases presents a valuable resource for future genetic studies.
A chemical investigation of K. heteroclite led to isolation of two new dibenzocyclooctadienes (1 and 2) together with 14 known compounds (3-16) by using multiple chromatographic techniques. New ...compounds (1 and 2) were obtained and identified by spectroscopic methods (HRESIMS, 1D and 2D NMR, and ECD) as well as by comparison of their experimental data with those reported in the literatures. All the isolates were evaluated for their ability to modulate TNF-α production in lipopolysaccharide (LPS) stimulated RAW264.7 cells. Among them, compound 5 displayed the most inhibition against tumor necrosis factor (TNF)-α production with IC50 value of 6.16±0.14 µM. Whereas, compounds (1, 3, and 6) showed the significant inhibition (IC50 values ranging from 9.41 to 14.54 µM), and compounds (2, 4, 9, 10, 13, 15, and 16) exhibited moderate inhibition (IC50 values ranging from 19.27 to 40.64 µM) toward TNF-α production, respectively.
Accurate profiling of population‐specific recessive diseases is essential for the design of cost‐effective carrier screening programs. However, minority populations and ethnic groups, including ...Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease‐associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2–12 times higher than in the world populations, including beta‐thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost‐effective carrier screening programs specific to the Vietnamese population.
Prevalent recessive diseases in Vietnam.
This study applies the idea of computing with words to develop an advanced genetic method to design the Linguistic Rule Base Systems (LRBSs) from a given dataset to solve the dataset regression ...problem, whose rules can be considered human knowledge. It has two primary specific features. The first is its ability to ensure the uncertain equality of two dataset contents assigned to each of its designed rules: the dataset content the users capture when reading it and the one the proposed method computes and assigns to it. Then, Tarski et al.'s interpretability concept in the math logics field does require the designed fuzzy sets to be isomorphic images of their assigned words. It implies their soundness in representing their words. The second is its ability to ensure the LRBs' scalability, an essential feature of human knowledge stating that it can grow while maintaining its existing one. Then, the proposed method can utilize the existing LRBSs optimality to design a new optimized LRBSs generation to increase the regression precision by allowing the existing L-attributes' word sets to grow. Compared to existing methods, the conducted experimental study can justify its performance and benefits in solving the regression problems using benchmark datasets in this area.
Cancer has emerged as a significant global health challenge, ranking as the second leading cause of death worldwide. Moreover, cancer patients frequently experience compromised immune systems, ...rendering them susceptible to bacterial infections. Combining anticancer and antibacterial properties in a single drug could lead to improved overall treatment outcomes and patient well-being. In this context, the present study focused on a series of hydrophilic naphthoimidazolium salts with donor groups (
NI-R
), aiming to create dual-functional agents with antibacterial and anticancer activities. Among these compounds,
NI-TPA
demonstrated notable antibacterial activity, particularly against drug-resistant bacteria, with MIC value of 7.8 μg mL
−1
. Furthermore,
NI-TPA
exhibited the most potent cytotoxicity against four different cancer cell lines, with an IC
50
range of 0.67-2.01 μg mL
−1
. The observed high cytotoxicity of
NI-TPA
agreed with molecular docking and dynamic simulation studies targeting c-Met kinase protein. Additionally,
NI-TPA
stood out as the most promising candidate for two-photo excitation, fluorescence bioimaging, and localization in lysosomes. The study findings open new avenues for the design and development of imidazolium salts that could be employed in phototheranostic applications for cancer treatment and bacterial infections.
Molecular design and synthesis toward two-photon-excited and lysosome-targeted fluorescent naphthoimidazolium salts with anticancer and antibacterial activity.
This study provides an update on the movement ecology of the Sunda pangolin (Manis javanica) in three distinct ecoregions of Vietnam. Using radio telemetry, we tracked 12 pangolins rescued from the ...illegal wildlife trade and translocated to protected areas. We found that the average home range of translocated Sunda pangolins was 1.58 km2 and did not vary significantly between sexes, mass, or habitat. However, there was a marked decrease in range size with decreasing sizes of suitable forest space and terrain, or a localized abundance of resources in some locations. Pangolins were most active from 03:00 to 04:00. The study highlights the need for further research to fully understand the ecology of this unique and enigmatic species.
To demonstrate the prevalence of maternal mosaic monosomy X (MMXO) in a cohort of pregnant women in Vietnam.
All 105,594 singleton pregnant women undergoing noninvasive prenatal screening (NIPS) ...between January 2019 and February 2021 in Vietnam were analyzed by measuring discordance between size- and count-based z-scores for chromosome X (ChrX) to identify suspected cases of MMXO and validated by fluorescence
hybridization (FISH) on maternal blood.
We identified 295 (0.279%) suspected MMXO cases. After FISH analysis, MMXO was confirmed in 125 cases (42.37%), revealing the MMXO prevalence of 0.118% (95% CI: 0.097-0.139%) in this cohort.
We found a relatively high prevalence of MMXO in Vietnamese pregnant women and demonstrated a strong influence of MMXO on the ChrX z-score using a count-based method, resulting in false positives. The size-based method is not sensitive to MMXO and therefore achieves higher PPV.
Three organoplatinum(II) complexes bearing natural arylolefin and quinoline derivatives, namely, 4-methoxy-5-(2-methoxy-2-oxoethoxy)-2-(prop-2-en-1-yl)phenyl(quinolin-8-olato)platinum(II), Pt(C 13 H ...15 O 4 )(C 9 H 6 NO), ( I ), 4-methoxy-5-(2-oxo-2-propoxyethoxy)-2-(prop-2-en-1-yl)phenyl(quinoline-2-carboxylato)platinum(II), Pt(C 15 H 19 O 4 )(C 10 H 6 NO 2 ), ( II ), and chlorido4-methoxy-5-(2-oxo-2-propoxyethoxy)-2-(prop-2-en-1-yl)phenyl(quinoline)platinum(II), Pt(C 15 H 19 O 4 )Cl(C 9 H 7 N), ( III ), were synthesized and structurally characterized by IR and 1 H NMR spectroscopy, and by single-crystal X-ray diffraction. The results showed that the cycloplatinated arylolefin coordinates with Pt II via the carbon atom of the phenyl ring and the C=C olefinic group. The deprotonated 8-hydroxyquinoline (C 9 H 6 NO) and quinoline-2-carboxylic acid (C 10 H 6 NO 2 ) coordinate with the Pt II atom via the N and O atoms in complexes ( I ) and ( II ) while the quinoline (C 9 H 7 N) coordinates via the N atom in ( III ). Moreover, the coordinating N atom in complexes ( I )–( III ) is in the cis position compared to the C=C olefinic group. The crystal packing is characterized by C—H...π, C—H...O for ( II ) and ( III ), C—H...Cl for ( III ) and π–π for ( I ) interactions.
Background
The Ginkgo biloba special extract, EGb 761® has been widely used in the treatment of neuropsychiatric disorders, including Alzheimer’s disease (AD).
Methods
To guide clinical practice in ...the Asian region, the Asian Clinical Expert Group on Neurocognitive Disorders compiled evidence‐based consensus recommendations regarding the use of EGb 761® in neurocognitive disorders with/without cerebrovascular disease.
Results
Key randomized trials and robust meta‐analyses have demonstrated significant improvement in cognitive function, neuropsychiatric symptoms, activities of daily living (ADL) and quality of life with EGb 761®versus placebo in patients with mild‐to‐moderate dementia. In those with mild cognitive impairment (MCI), EGb 761® has also demonstrated significant symptomatic improvement versus placebo. World Federation of Societies of Biological Psychiatry guidelines list EGb 761® with the same strength of evidence as acetylcholinesterase inhibitors and N‐methyl‐D‐aspartate (NMDA) antagonists e.g. memantine (Grade 3 recommendation; Level B evidence). Only EGb 761® had Level B evidence in improving cognition, behaviour, and ADL in both AD and vascular dementia patients. Safety analyses show EGb 761® to have a positive risk‐benefit profile. While concerns have been raised regarding a possible increased bleeding risk, several randomized trials and two meta‐analyses have not supported this association.
Conclusions
The Expert Group foresee an important role for EGb 761®, used alone or as an add‐on therapy, in the treatment of MCI and dementias, particularly when patients do not derive benefit from acetylcholinesterase inhibitors or NMDA antagonists. EGb 761® should be used in alignment with local clinical practice guidelines.
Abstract
α-Thalassemia is a common inherited blood disorder manifested mainly by the deletions of α-globin genes. In geographical areas with high carrier frequencies, screening of α-thalassemia ...carrier state is therefore of vital importance. This study presents a novel method for identifying female carriers of common α-thalassemia deletions using samples routinely taken for non-invasive prenatal tests for screening of fetal chromosomal aneuploidies. A total of 68,885 Vietnamese pregnant women were recruited and α-thalassemia statuses were determined by gap-PCR, revealing 5344 women (7.76%) carried deletions including αα/−−
SEA
(4.066%), αα/−α
3.7
(2.934%), αα/−α
4.2
(0.656%), and rare genotypes (0.102%). A two-stage model was built to predict these α-thalassemia deletions from targeted sequencing of the HBA gene cluster on maternal cfDNA. Our method achieved F1-scores of 97.14–99.55% for detecting the three common genotypes and 94.74% for detecting rare genotypes (−α
3.7
/−α
4.2
, αα/−−
THAI
, −α
3.7
/−−
SEA
, −α
4.2
/−−
SEA
). Additionally, the positive predictive values were 100.00% for αα/αα, 99.29% for αα/−−
SEA
, 94.87% for αα/−α
3.7
, and 96.51% for αα/−α
4.2
; and the negative predictive values were 97.63%, 99.99%, 99.99%, and 100.00%, respectively. As NIPT is increasingly adopted for pregnant women, utilizing cfDNA from NIPT to detect maternal carriers of common α-thalassemia deletions will be cost-effective and expand the benefits of NIPT.
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