ABSTRACT
Viet Nam has a coastline of 3200 km with thousands of islands providing diverse habitats for benthic harmful algal species including species of Gambierdiscus. Some of these species produce ciguatera toxins, which may accumulate in large carnivore fish potentially posing major threats to public health. This study reports five species of Gambierdiscus from Vietnamese waters, notably G. australes, G. caribaeus, G. carpenteri, G. pacificus, and G. vietnamensis sp. nov. All species are identified morphologically by LM and SEM, and identifications are supported by molecular analyses of nuclear rDNA (D1-D3 and D8-D10 domains of LSU, SSU, and ITS1-5.8S-ITS2 region) based on cultured material collected during 2010-2021. Statistical analyses of morphometric measurements may be used to differentiate some species if a sufficiently large number of cells are examined. Gambierdiscus vietnamensis sp. nov. is morphologically similar to other strongly reticulated species, such as G. belizeanus and possibly G. pacificus; the latter species is morphologically indistinguishable from G. vietnamensis sp. nov., but they are genetically distinct, and molecular analysis is deemed necessary for proper identification of the new species. This study also revealed that strains denoted G. pacificus from Hainan Island (China) should be included in G. vietnamensis sp. nov.
Subject(s)
Ciguatera Poisoning , Dinoflagellida , Animals , Dinoflagellida/genetics , DNA, Ribosomal/genetics , Phylogeny , VietnamABSTRACT
The popularity of labor migration in Vietnam leaves millions of children at home. The study aims to compare the mental health of left-behind children (LBC) and non-left-behind children (NLBC) in a Vietnamese sample and examine social factors that could influence LBC's mental health. The study enrolled a sample of 371 LBC and 302 NLBC. Emotional Symptoms and Conduct Problems subscale of the SDQ were regarded as indicators of mental health. Results showed no differences between LBC and NLBC in terms of Emotional symptoms and Conduct problems. Notably, female LBC was more susceptible to Emotional symptoms than male LBC and female NLBC. Social support from family was negatively associated with mental health problems. No association was found between parent-child communication and mental health.
Subject(s)
Mental Health , Parent-Child Relations , Humans , Male , Female , Prevalence , Protective Factors , Vietnam/epidemiology , Social Support , Communication , China/epidemiology , Rural Population , Surveys and QuestionnairesABSTRACT
The study of species biodiversity within the Caenorhabditis genus of nematodes would be facilitated by the isolation of as many species as possible. So far, over 50 species have been found, usually associated with decaying vegetation or soil samples, with many from Africa, South America and Southeast Asia. Scientists based in these regions can contribute to Caenorhabditis sampling and their proximity would allow intensive sampling, which would be useful for understanding the natural history of these species. However, severely limited research budgets are often a constraint for these local scientists. In this study, we aimed to find a more economical, alternative growth media to rear Caenorhabditis and related species. We tested 25 media permutations using cheaper substitutes for the reagents found in the standard nematode growth media (NGM) and found three media combinations that performed comparably to NGM with respect to the reproduction and longevity of C. elegans. These new media should facilitate the isolation and characterization of Caenorhabditis and other free-living nematodes for the researchers in the poorer regions such as Africa, South America, and Southeast Asia where nematode diversity appears high.
ABSTRACT
Inactivating mutations of the CYP21A2 gene, encoding for steroid synthesis, have been reported in patients with congenital adrenal hyperplasia (CAH). We report a case of an infant who were diagnosed with CAH and presented with the severe phenotype of CAH with symptoms such as increased testicular volume, elevated of 17-hydroxyprogesteron, testosterone and progesterone. In this study, we established an assay for the detection of unusual genetic in the CYP21A2 gene in the proband and his family. A novel nonsense mutation c.374C > G which caused a substitutions of Serine for a stop codon at codon 125 (p.S125*) within exon 3 was found in the proband. Parental genotype studies confirmed carrier state in the father, but the mother showed a wild allele by PCR and sequencing. This inspired us to find deletions using multiplex ligation-dependent probe amplification (MLPA) technique. The probands were found to have a large deletion in exons 1 and 3, while the mother only had deletion in exon 1. Therefore, mutation c.374C > G (p.S125*) in the proband is considered as a heterozygous deletion. This mutation caused a truncated protein which lead to the salt wasting CAH phenotype of the proband. This novel nonsense mutation expands the CYP21A2 mutation spectrum in CAH disorder. This case also highlights the need of caution when interpreting results of molecular genetic testing during genetic counseling.
Subject(s)
Adrenal Hyperplasia, Congenital/genetics , Asian People/genetics , Codon, Nonsense/genetics , Mutation , Steroid 21-Hydroxylase/genetics , Female , Genotype , Humans , Infant , Male , Parents , VietnamABSTRACT
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as variants in cohesin complex genes, in which mutations in the NIPBL gene have been estimated to account for up to 80%. Our study included three Vietnamese patients with typical CdLS phenotypes. Whole exome sequencing revealed two known heterozygous mutations c.6697G>A (p.Val2233Met) and c.2602C>T (p.Arg868X), and a novel heterozygous mutation c.4504delG (p.Val1502fsX87) in the NIPBL gene of the three patients. In silico analyses of the identified mutations predicted possible damaging and truncating effects on the NIPBL protein. Inherited analyses in the patients' families showed that all of the mutations are de novo. Our results lead a definitive diagnosis of patients with CdLS and expand the spectrum of mutations in the NIPBL gene. These findings also confirm whole exome sequencing is an efficient tool for genetic screening of CdLS.
Subject(s)
Cell Cycle Proteins/genetics , De Lange Syndrome/genetics , Cell Cycle Proteins/analysis , De Lange Syndrome/epidemiology , De Lange Syndrome/physiopathology , Female , Genetic Testing/methods , Genetic Testing/statistics & numerical data , High-Throughput Nucleotide Sequencing/methods , Humans , Infant , Male , Mutation/genetics , Vietnam/epidemiologyABSTRACT
Historically, it had been widely accepted that the female mammalian ovary contained a limited number of oocytes that would reduce over time, without the possibility of replenishment. However, recent studies have suggested that female germline stem cells (FGSCs) could replenish the oocyte-pool in adults. The aim of this study was to isolate FGSCs from porcine ovaries and differentiate them into oocyte-like cells (OLCs). The FGSCs were successfully isolated from porcine ovarian tissue and cultured in vitro, in DMEM/F-12 medium supplemented with growth factors (EGF, FGF, GDNF, etc.) and a supplement (N21). These cells possessed spherical morphology and expressed specific germline characteristics (Vasa, Stella, Oct4, c-kit). By evaluating different conditions for in vitro differentiation of FGSCs, co-culturing the isolated FGSCs with MEF cells, under three-dimensional (3D) cell cultures, were shown to be optimal. FGSCs could successfully be differentiated into OLCs and reached about 70 µm in diameter, with a large number of surrounding somatic cells. Importantly, OLCs contained large nuclei, about 25-30 µm, with filamentous chromatin, similar to oocyte morphology, and expressed oocyte-specific markers (Gdf9, Zp2, SCP3, etc.) at the same level as oocytes. In conclusion, we successfully isolated FGSCs from porcine ovarian tissue and differentiated them into oocyte-like cells. This will provide a valuable model for studying a new, alternative source of oocytes.
Subject(s)
Cell Culture Techniques , Oocytes/cytology , Oogonial Stem Cells/cytology , Ovary/cytology , Animals , Cell Differentiation , Cell Proliferation , Chromatin/metabolism , Cryopreservation , DNA-Binding Proteins/metabolism , Female , Granulosa Cells/cytology , Growth Differentiation Factor 9/metabolism , Ovum/cytology , Swine , Zona Pellucida Glycoproteins/metabolismABSTRACT
The clinical presentation of distal duplications of the long arm of chromosome (chr) 16 is currently not well described. Only one case of microduplication of chr16q22.1 and another involving the chr16q22.1q23.1 region have been reported so far. Here, using array comparative genomic hybridization, we identified a second case of chr16q22.1q23.1 duplication in a Vietnamese boy, who shares significant clinical phenotype with the previously described case. Aside from developmental delay, intellectual disability and midface hypoplasia, our patient also displays a forked tongue, visual impairment and external ptosis. Our report further expands the clinical spectrum associated with duplication of this region.
Subject(s)
Chromosome Duplication , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 1 , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Adolescent , Comparative Genomic Hybridization , Facies , Genetic Association Studies , Humans , Male , Phenotype , VietnamABSTRACT
Deep neural networks are often applied to medical images to automate the problem of medical diagnosis. However, a more clinically relevant question that practitioners usually face is how to predict the future trajectory of a disease. Current methods for prognosis or disease trajectory forecasting often require domain knowledge and are complicated to apply. In this paper, we formulate the prognosis prediction problem as a one-to-many prediction problem. Inspired by a clinical decision-making process with two agents-a radiologist and a general practitioner - we predict prognosis with two transformer-based components that share information with each other. The first transformer in this framework aims to analyze the imaging data, and the second one leverages its internal states as inputs, also fusing them with auxiliary clinical data. The temporal nature of the problem is modeled within the transformer states, allowing us to treat the forecasting problem as a multi-task classification, for which we propose a novel loss. We show the effectiveness of our approach in predicting the development of structural knee osteoarthritis changes and forecasting Alzheimer's disease clinical status directly from raw multi-modal data. The proposed method outperforms multiple state-of-the-art baselines with respect to performance and calibration, both of which are needed for real-world applications. An open-source implementation of our method is made publicly available at https://github.com/Oulu-IMEDS/CLIMATv2.
Subject(s)
Alzheimer Disease , Osteoarthritis, Knee , Humans , Alzheimer Disease/diagnostic imaging , Calibration , Neural Networks, Computer , RadiologistsABSTRACT
We describe a new treefrog species from Lao Cai Province, northwestern Vietnam. The new species is assigned to the genus Zhangixalus based on a combination of the following morphological characters: (1) dorsum green, smooth; body size medium (SVL 30.1-32.2 in males); (2) fingers webbed; tips of digits expanded into large disks, bearing circum-marginal grooves; (3) absence of dermal folds along limbs; (4) absence of supracloacal fold and tarsal projection. The new species can be distinguished from its congeners by: (1) dorsal surface of the head and body green without spots; (2) axilla and groin cream with a black blotch; (3) ventral cream without spot; (4) chin creamy with grey marbling; anterior part of the thigh and ventral surface of tibia orange without spots; posterior parts of thigh orange with a large black blotch; (5) ventral side of webbing orange with some grey pattern (6) iris red-bronze, pupils black; (7) finger webbing formula I1»-1»II1-2III1-1IV, toe webbing formula I½-½II0-1½III»-1¾IV1¾-½V. Phylogenetically, the new species is nested in the same subclade as Z.jodiae, Z.pinglongensis, and Z.yaoshanensis, with genetic distances ranging from 3.23% to 4.68%. The new species can be found in evergreen montane tropical forests at an elevation of about 1,883 m a.s.l. This new discovery brings the number of known genus Zhangixalus species to 42 and the number of species reported from Vietnam to 10.
ABSTRACT
RATIONALE: Skeletal dysplasias are a complex series of rare genetic disorders that cause irregular development of bones, joints, and cartilages in children. A total of 770 disorders associated with 41 groups of skeletal dysplasia have been documented, demonstrating a wide range of clinical manifestations and varying levels of severity. In addition to conventional methods, whole genome sequencing has emerged as a useful approach to pinpointing the underlying etiology of skeletal dysplasias. PATIENT CONCERNS: A 13-month-old female was admitted to the hospital due to the symptoms of jaundice and failure to thrive. DIAGNOSES: The child was subjected to blood tests and a radiographic assessment. The blood chemistries revealed elevated levels of total bilirubin (178 µmol/L), bile acids (198 µmol/L), and low levels of serum calcium (1.69 mmol/L) and phosphate (0.8 mmol/L), along with irregular skeletal development in the forearms and legs, considering rickets and cholestasis. INTERVENTIONS: Whole exome sequencing data of the proband revealed a homozygous mutation of c.388dupA in the BAAT (bile acid-CoA: amino acid N-acyltransferase) gene sequence. This mutation caused a frameshift in the amino acid of the BAAT protein, resulting in the pR130Kfs*12 variant. This mutation has been identified as the underlying cause of skeletal dysplasia in the proband. OUTCOMES: A novel frameshift mutation in the BAAT gene of a Vietnamese female child diagnosed with skeletal dysplasia has been studied by whole exome sequencing analysis. LESSONS: This research reported a case of skeletal dysplasia caused by a frameshift mutation in the BAAT gene. The results of this study contribute to our understanding of the diverse factors that influence irregular skeletal development in children and provide genetic data to support clinical practice.
Subject(s)
Frameshift Mutation , Humans , Female , Infant , Acyltransferases/genetics , Exome Sequencing , Bone Diseases, Developmental/genetics , Bone Diseases, Developmental/diagnosisABSTRACT
Introduction: To explore the feasibility and safety of retroperitoneal laparoscopic partial nephrectomy (RLPN) with selective artery clamp (SAC) in patients with renal cell carcinoma (RCC). Methods: The authors recruited three men and two women who underwent RLPN for T1 RCC between December 2022 and May 2023 at a tertiary hospital. The median age of the patients was 32 years (range, 25-70 years). The tumour size ranged from 3 to 4.5 cm. The R.E.N.A.L scores were 4x, 5p, 8a, 5a, and 8ah. The median preoperative eGFR was 96.9 (74.3-105.2). Renal computed tomography angiography was performed before the surgery to evaluate the artery branches. The operation time, number of clamped arteries, warm ischaemic time (WIT), intraoperative blood loss, RCC type, postoperative hospital stay, changes in renal function, and complications were evaluated. The follow-up duration was 6 months. Results: The median operation time was 120 (75-150) minutes. One artery was clamped in four patients, while three were clamped in one patient. The median WIT was 22 (15-30) min, and the median blood loss was 150 (100-300) ml. No complications were recorded, and the resection margin was negative in all patients. The median decrease in eGFR was 6 (4-30%). Conclusions: RLPN with SAC for T1 RCC is safe and feasible in clinical practice.
ABSTRACT
Talaromyces sp. DC2 is an endophytic fungus that was isolated from the stem of Catharanthus roseus (L.) G. Don in Hanoi, Vietnam and is capable of producing vinca alkaloids. This study utilizes the PacBio Sequel technology to completely sequence the whole genome of Talaromyces sp. DC2The genome study revealed that DC2 contains a total of 34.58 Mb spanned by 156 contigs, with a GC content of 46.5%. The identification and prediction of functional protein-coding genes, tRNA, and rRNA were comprehensively predicted and highly annotated using various BLAST databases, including non-redundant (Nr) protein sequence, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Clusters of Orthologous Groups (COG), and Carbohydrate-Active Enzymes (CAZy) databases. The genome of DC2 has a total of 149, 227, 65, 153, 53, and 6 genes responsible for cellulose, hemicellulose, lignin, pectin, chitin, starch, and inulin degradation, respectively. The Antibiotics and Secondary Metabolites Analysis Shell (AntiSMASH) analyses revealed that strain DC2 possesses 20 biosynthetic gene clusters responsible for producing secondary metabolites. The strain DC2 has also been found to harbor the DDC gene encoding aromatic L-amino acid decarboxylase enzyme. Conclusively, this study has provided a comprehensive understanding of the processes involved in secondary metabolites and the ability of the Talaromyces sp. DC2 strain to degrade plant cell walls.
ABSTRACT
Anaxagorea luzonensis A. Gray, a member of the Annonaceae family, has been used to treat a variety of illnesses for a long time. For the first time, A. luzonensis volatile compounds (ALVCs) were extracted from the leaves, and the components were identified using gas chromatography-mass spectrometry (GC-MS). Further, the main compositions of ALVCs were also assessed for their ability to bind with anti-inflammatory proteins using a docking model. In addition, in vitro tests e.g. inhibition of protein degradation and the inhibition of nitric oxide release using RAW264.7 macrophage cells were utilized for evaluating the anti-inflammatory activity. The results showed that the principal compounds of ALVCs were bulnesol (34.1â¯%), cubitene (17.8â¯%), ß-eudesmol (10.4â¯%), epi-longipinanol (5.9â¯%), and (Z)-nerolidyl acetate (5.5â¯%). Three compounds viz. bulnesol, cubitene, and ß-eudesmol bound firmly to cyclooxygenase-1 (COX-1), cyclooxygenase-2 (COX-2) and 5-lipoxygenase (5-LOX), as shown by the in silico analysis, similar to the positive control diclofenac. ALVCs effectively inhibited protein degradation with the IC50 of 31 ± 2.3⯵g/mL and inhibited nitric oxide production with the IC50 of 43.30 ± 3.37⯵g/mL. These findings showed that ALVCs might have a promising anti-inflammatory effect by blocking several inflammatory proteins.
Subject(s)
Anti-Inflammatory Agents , Molecular Docking Simulation , Nitric Oxide , Volatile Organic Compounds , Animals , Mice , RAW 264.7 Cells , Anti-Inflammatory Agents/pharmacology , Anti-Inflammatory Agents/chemistry , Nitric Oxide/metabolism , Volatile Organic Compounds/pharmacology , Volatile Organic Compounds/chemistry , Volatile Organic Compounds/isolation & purification , Plant Leaves/chemistry , Gas Chromatography-Mass Spectrometry , Annonaceae/chemistry , Cyclooxygenase 2/metabolism , Plant Extracts/pharmacology , Plant Extracts/chemistry , Cyclooxygenase 1/metabolism , Macrophages/drug effects , Macrophages/metabolismABSTRACT
Developing a compact circularly polarized (CP) antenna with good radiation characteristics for handheld radio frequency identification (RFID) readers is a very challenging task. Many compact CP antennas have been reported in the open literature, but most suffer from critical drawbacks of low gain and/or high back radiation. This paper presents a metasurface (MS) based CP antenna with compact size, high gain, and high front-to-back ratio characteristics. The compact size of the proposed design is achieved by using a 2 × 2 unit-cell MS, while the CP realization is accomplished through a coupling between the MS and a Y-shaped patch as a primary CP source. The final antenna has compact overall dimensions of 0.45λ × 0.45λ × 0.02λ, where λ is the guided wavelength at the center frequency. The operating bandwidth is about 2.0% (2.43-2.48 GHz) and the broadside gain is about 6.3 dBi. Besides, the front-to-back ratio (FBR) defined by the difference gain levels between the forward and backward directions is about 18 dB. Compared with the related compact CP antennas in the literature, the proposed design has the advantages of high gain and high FBR, making it suitable for compact RFID readers.
ABSTRACT
Rice is the second-most important primary crop in the world and one of the most susceptible crops to salt stress. Soil salinization hinders seedling growth and decreases crop yield by inducing ionic and osmotic imbalances, photosynthesis disturbances, cell wall alterations, and gene expression inhibition. Plants have developed a range of defense mechanisms to adapt to salt stress. One of the most effective means is to make use of plant microRNAs (miRNAs) as post-transcriptional regulators to regulate the expression of developmental genes in order to mitigate the detrimental effects of salt stress. In this study, the miRNA sequencing data between two contrasting rice cultivars, salt-tolerant Doc Phung (DP) and salt-sensitive IR28 seedlings, were compared under control and salt stress (150 mM NaCl) conditions to determine the salt stress-responsive miRNAs. Comparative analysis of miRNA sequencing data detected a total of 69 differentially expressed miRNAs in response to salt stress treatment. Among them, 18 miRNAs from 13 gene families, MIR156, MIR164, MIR167, MIR168, MIR171, MIR396, MIR398, MIR1432, MIR1846, MIR1857, MIR1861, MIR3979, and MIR5508, were identified to be specifically and significantly expressed in the shoot and root tissues of DP seedlings. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses further revealed that these detected miRNAs regulate a range of essential biological and stress response processes, including gene transcription, osmotic homeostasis, root formation, ROS scavenger synthesis, and auxin and abscisic acid signaling pathways. Our findings provide more insight into the miRNA-mediated responsive mechanisms of rice under salt stress and should benefit the improvement of salt stress tolerance in rice.
Subject(s)
MicroRNAs , Oryza , Oryza/genetics , Gene Expression Regulation, Plant , MicroRNAs/genetics , Plants, Genetically Modified , Salt Stress/geneticsABSTRACT
BACKGROUND: Androgens and androgen receptor (AR) are critical regulators of the masculinization process in male sexual development. The absence of a functioning AR results in the development of the androgen insensitivity syndrome (AIS), a rare disorder of sexual development (DSD) characterized by the external genitalia feminization, gynecomastia, and impaired spermatogenesis. OBJECTIVE: To determine the AR gene mutations associated with male DSD in four unrelated Vietnamese patients. METHODS: To detect the disease-causing mutations, whole exome sequencing (WES) was performed on four patients diagnosed with AIS. Sanger sequencing was then used for validation of the identified mutations. Finally, 12 web-based tools, three-dimensional protein modeling software, and the guidelines issued by the American College of Medical Genetics and Genomics were used to assess the potential pathogenicity of these mutations. RESULTS: Four distinct novel mutations, namely c.1834T > A (p.Cys612Ser), c.2122 C > G (p.Leu708Val), c.2630T > G (p.Phe877Cys), and c.2641 C > A (p.Leu881Met) in the AR gene, were identified in four AIS patients using WES. The in silico analysis results revealed that the Cys612, Leu708, Phe877, and Leu881 sites are important for an appropriate response to androgens of the AR, and mutation at these sites can have adverse effects on the AR functions, androgen-AR interaction, and AR signaling pathway. CONCLUSIONS: WES and in silico analyses strongly suggested that four novel AR mutations are pathogenic and have led to the development of AIS in the four Vietnamese patients under consideration.
Subject(s)
Androgen-Insensitivity Syndrome , Humans , Male , Androgen-Insensitivity Syndrome/genetics , Androgen-Insensitivity Syndrome/diagnosis , Androgen-Insensitivity Syndrome/metabolism , Androgens , Receptors, Androgen/genetics , Receptors, Androgen/metabolism , Southeast Asian People , MutationABSTRACT
In this study, strain DM10 was isolated from mangrove roots and characterized as a halotolerant plant growth-promoting bacterium. Strain DM10 exhibited the ability to solubilize phosphate, produce siderophore, show 1-aminocyclopropane-1-carboxylic acid deaminase activity, and hydrolyze starch. The rice plants subjected to a treatment of NaCl (200 mM) and inoculated with strain DM10 showed an improvement in the shoot length, root length, and dried weight, when compared to those exposed solely to saline treatment. The comprehensive genome sequencing of strain DM10 revealed a genome spanning of 4,171,745 bp, harboring 3626 protein coding sequences. Within its genome, strain DM10 possesses genes responsible for both salt-in and salt-out strategies, indicative of a robust genetic adaptation aimed at fostering salt tolerance. Additionally, the genome encodes genes involved in phosphate solubilization, such as the synthesis of gluconic acid, high-affinity phosphate transport systems, and alkaline phosphatase. In the genome of DM10, we identified the acdS gene, responsible for encoding 1-aminocyclopropane-1-carboxylate deaminase, as well as the amy1A gene, which encodes α-amylase. Furthermore, the genome of DM10 contains sequences associated with the iron (3+)-hydroxamate and iron uptake clusters, responsible for siderophore production. Such data provide a deep understanding of the mechanism employed by strain DM10 to combat osmotic and salinity stress, facilitate plant growth, and elucidate its molecular-level behaviors.
ABSTRACT
Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene. In MDC1A, laminin- α2 chain expression is absent or significantly reduced, leading to some early-onset clinical symptoms including severe hypotonia, muscle weakness, skeletal deformity, non-ambulation, and respiratory insufficiency. Methods: Six patients from five unrelated Vietnamese families presenting with congenital muscular dystrophy were investigated. Targeted sequencing was performed in the five probands. Sanger sequencing was carried out in their families. Multiplex ligation-dependent probe amplification was performed in one family to examine an exon deletion. Results: Seven variants of the LAMA2 (NM_000426) gene were identified and classified as pathogenic/likely pathogenic variants using American College of Medical Genetics and Genomics criteria. Two of these variants were not reported in the literature, including c.7156-5_7157delinsT and c.8974_8975insTGAT. Sanger sequencing indicated their parents as carriers. The mothers of family 4 and family 5 were pregnant and a prenatal testing was performed. The results showed that the fetus of the family 4 only carries c.4717 + 5G>A in the heterozygous form, while the fetus of the family 5 carries compound heterozygous variants, including a deletion of exon 3 and c.4644C>A. Conclusion: Our findings not only identified the underlying genetic etiology for the patients, but also provided genetic counseling for the parents whenever they have an offspring.
ABSTRACT
Marinobacter sp. strain C7 was isolated from seawater collected on the Con Bung coast, Vietnam. Here, we report a draft genome sequence of strain C7 consisting of 4,057,300 bp with 59.2% GC content and 109 contigs. The genome sequence of strain C7 provides an overview of its halophilic properties.
ABSTRACT
This paper presents a direct comparison of the mechanical and crack-healing properties of strain hardening cementitious composites (SHCC) under water submersion in a laboratory and in a natural environment outdoors. Portland cement, slag, crumb rubber powder, and hybrid polyethylene and polyvinyl alcohol fibers were used for the SHCC, and mixture proportions were determined. Specimens were exposed to different environmental conditions. A sequence of experimental tests including those for density, compressive strength, and tensile properties was performed to assess the mechanical properties of the SHCC. To confirm the healing feasibility of the SHCC, crack width reduction, stiffness recovery, and tensile performance at post-healing were adopted. The test results showed that underwater conditions are better than natural conditions in improving both the mechanical and crack-healing properties of SHCC. Specifically, the SHCC cured in natural conditions had a lower compressive strength, tensile strength, and tensile strain capacity than that cured in underwater conditions by 10%, 4%, and 3%, respectively. The SHCC cured in underwater conditions had a healing threshold of crack width of 60 µm, while the SHCC cured in natural conditions had very limited crack-healing capacity. Additionally, stiffness recovery of the SHCC cured in underwater conditions was higher than that cured in natural conditions.