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1.
Ann Med Surg (Lond) ; 86(5): 2437-2441, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38694288

RESUMO

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.

2.
Zookeys ; 1197: 93-113, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38628553

RESUMO

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.

3.
IEEE Trans Med Imaging ; 43(1): 529-541, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37672368

RESUMO

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.


Assuntos
Doença de Alzheimer , Osteoartrite do Joelho , Humanos , Doença de Alzheimer/diagnóstico por imagem , Calibragem , Redes Neurais de Computação , Radiologistas
4.
3 Biotech ; 13(12): 416, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38009164

RESUMO

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.

5.
PLoS One ; 18(8): e0288334, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37607186

RESUMO

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.

6.
Front Genet ; 14: 1183663, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37388928

RESUMO

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.

7.
PLoS One ; 18(5): e0286140, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37224116

RESUMO

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.


Assuntos
MicroRNAs , Oryza , Oryza/genética , Regulação da Expressão Gênica de Plantas , MicroRNAs/genética , Plantas Geneticamente Modificadas , Estresse Salino/genética
8.
J Phycol ; 59(3): 496-517, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36866508

RESUMO

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.


Assuntos
Ciguatera , Dinoflagellida , Animais , Dinoflagellida/genética , DNA Ribossômico/genética , Filogenia , Vietnã
9.
Psychol Health Med ; 28(4): 876-883, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36411537

RESUMO

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.


Assuntos
Saúde Mental , Relações Pais-Filho , Humanos , Masculino , Feminino , Prevalência , Fatores de Proteção , Vietnã/epidemiologia , Apoio Social , Comunicação , China/epidemiologia , População Rural , Inquéritos e Questionários
10.
Genes Genomics ; 45(4): 467-474, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-35445939

RESUMO

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.


Assuntos
Síndrome de Resistência a Andrógenos , Humanos , Masculino , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/diagnóstico , Síndrome de Resistência a Andrógenos/metabolismo , Androgênios , Receptores Androgênicos/genética , Receptores Androgênicos/metabolismo , População do Sudeste Asiático , Mutação
11.
Materials (Basel) ; 15(18)2022 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-36143648

RESUMO

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.

12.
Microbiol Resour Announc ; 11(7): e0040422, 2022 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-35674436

RESUMO

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.

13.
J Nematol ; 532021.
Artigo em Inglês | MEDLINE | ID: mdl-33860269

RESUMO

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.

14.
Genes Genomics ; 43(2): 115-121, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33460028

RESUMO

BACKGROUND: Primordial dwarfism (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain. OBJECTIVE: To determine the exact cause of the disease in two Vietnamese patients priory diagnosed with PD by severe pre-and postnatal growth retardation with marked microcephaly and some bone abnormalities. METHODS: Whole-exome sequencing was performed for the two patients and mutations in genes related to PD were screened. Sanger sequencing was applied to examine the mutations in the patients of their families. RESULTS: Three novel mutations in the PCNT gene which have not been reported previously were identified in the two patients. Of which, two frameshift mutations (p.Thr479Profs*6 and p.Glu2742Alafs*8) were detected in patient I and one stop-gained mutation (p.Gln1907*) was detected in the patient II. These mutations may result in a truncated PCNT protein, leading to an inactivated PACT domain corresponding to residue His3138-Trp3216 of PCNT protein. Therefore, the three mutations may cause a deficiency of protein functional activity and result in the phenotypes of primordial dwarfism in the two patients. CONCLUSIONS: Clinical presentations in combination with genetic analyses supported an accurate diagnosis of the two patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). In addition, these results have important implications for prenatal genetic screening and genetic counseling for the families.


Assuntos
Antígenos/genética , Nanismo/genética , Retardo do Crescimento Fetal/genética , Microcefalia/genética , Osteocondrodisplasias/genética , Criança , Pré-Escolar , Nanismo/patologia , Retardo do Crescimento Fetal/patologia , Humanos , Masculino , Microcefalia/patologia , Mutação , Osteocondrodisplasias/patologia , Fenótipo
15.
FEBS Open Bio ; 11(1): 124-132, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33176055

RESUMO

Cytochromes P450 (CYPs or P450s) comprise a superfamily of heme-containing monooxygenases that are involved in a variety of biological processes. CYPs have broad utilities in industry, but most exhibit low thermostability, limiting their use on an industrial scale. Highly thermostable enzymes can be obtained from thermophiles in geothermal areas, including hot springs, offshore oil-producing wells and volcanoes. Here, we report the identification of a gene encoding for a thermophilic CYP from the Binh Chau hot spring metagenomic database, which was designated as P450-T2. The deduced amino acid sequence showed the highest identity of 73.15% with CYP203A1 of Rhodopseudomonas palustris, supporting that P450-T2 is a member of the CYP203A subfamily. Recombinant protein expression yielded 541 nm. The optimal temperature and pH of P450-T2 were 50 °C and 8.0, respectively. The half-life of P450-T2 was 50.2 min at 50 °C, and its melting temperature was 56.80 ± 0.08 °C. It was found to accept electrons from all tested redox partners systems, with BmCPR-Fdx2 being the most effective partner. Screening for putative substrates revealed binding of phenolic compounds, such as l-mimosine and emodin, suggesting a potential application of this new thermophilic P450 in the production of the corresponding hydroxylated products.


Assuntos
Proteínas de Bactérias/metabolismo , Sistema Enzimático do Citocromo P-450/metabolismo , Fontes Termais/microbiologia , Metagenoma , Sequência de Aminoácidos/genética , Proteínas de Bactérias/genética , Proteínas de Bactérias/isolamento & purificação , Sistema Enzimático do Citocromo P-450/genética , Sistema Enzimático do Citocromo P-450/isolamento & purificação , Emodina/metabolismo , Mimosina/metabolismo , Proteínas Recombinantes/genética , Proteínas Recombinantes/isolamento & purificação , Proteínas Recombinantes/metabolismo , Rodopseudomonas/enzimologia , Rodopseudomonas/genética , Homologia de Sequência de Aminoácidos , Especificidade por Substrato/genética , Vietnã
16.
Diagnostics (Basel) ; 10(10)2020 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-32987775

RESUMO

Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for obtaining a precise diagnosis without the need for immunohistochemistry. WES was performed in the two siblings and their parents, followed by prioritization of variants and validation by Sanger sequencing. Very rare variants with moderate to high predicted impact in genes associated with neuromuscular disorders were selected. We identified two pathogenic missense variants, c.778C>T (p.H260Y) and c.2987G>A (p.C996Y), in the LAMA2 gene (NM_000426.3), in the homozygous state in two siblings, and in the heterozygous state in their unaffected parents, which were confirmed by Sanger sequencing. Variant c.2987G>A has not been reported previously. These variants may lead to a change in the structure and function of laminin-α2, a member of the family of laminin-211, which is an extracellular matrix protein that functions to stabilize the basement membrane of muscle fibers during contractions. Overall, WES enabled an accurate diagnosis of both patients with LAMA2-related muscular dystrophy and expanded the spectrum of missense variants in LAMA2.

17.
Preprint em Inglês | medRxiv | ID: ppmedrxiv-20192484

RESUMO

We present a sample pooling approach and the results of its application for mass screening of SARS-CoV-2 in >96,000 asymptomatic individuals. Our approach did not compromise the sensitivity of PCR, while increasing the throughput and reducing 77% of the costs. 22/32 asymptomatic cases would have been missed without mass screening.

18.
Front Pediatr ; 8: 321, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32793520

RESUMO

Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15-20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecular analysis in females is highly desirable. The aim of the study was to identify the mutations in two unrelated Vietnamese girls suspected with OTCD and the carriers in their families for definitive diagnosis and proper counseling. Case Presentation: Two patients presented with an acute encephalopathy at the first admission. Biochemical tests revealed hyperammonemia, hyperlactatemia, elevated glutamine level, elevated transaminase, elevated urinary orotic and uracil acid levels, and disorder of prothrombin time. Brain magnetic resonance imaging indicated cerebral edema. Based on the clinical and laboratory results, the two patients were diagnosed with urea cycle disorders. Therefore, the two patients were managed by stopping feeding, with infused glucose, l-carnitine, l-arginine, and sodium benzoate, and with hemofiltration. The two patients were alert and recovered with normal blood ammonia levels after 72 h of treatment. The family history of patient 1 showed that her brother died at 4 days of age due to a coma and dyspnea, while her parents were asymptomatic. Variable phenotypes were observed in three generations of the patient 2's family, including asymptomatic (mother), affected female adults dying at the first symptom (grandmother and aunt), and affected males dying in the first week of life (uncle, cousin, and siblings). Whole-exome sequencing showed two mutations in the OTC gene, including one novel missense mutation, c.365A>T, in the patient 1 and one previously reported splicing mutation, c.717+1G>A, in the patient 2. The two mutations are evaluated as likely pathogenic and pathogenic, respectively, according to the recommendations of the American College of Medical Genetics and Genomics (ACMG). Genetic analyses in the families indicated the mothers were heterozygous. Conclusion: Clinical, biochemical, and molecular findings accurately diagnosed the two patients with late-onset OTCD. Our results explained the genetic causes and proposed the risk in the patients' families, which could be useful for genetic counseling and monitoring in prenatal diagnosis.

19.
IEEE Trans Med Imaging ; 39(12): 4346-4356, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32804644

RESUMO

Knee osteoarthritis (OA) is one of the highest disability factors in the world. This musculoskeletal disorder is assessed from clinical symptoms, and typically confirmed via radiographic assessment. This visual assessment done by a radiologist requires experience, and suffers from moderate to high inter-observer variability. The recent literature has shown that deep learning methods can reliably perform the OA severity assessment according to the gold standard Kellgren-Lawrence (KL) grading system. However, these methods require large amounts of labeled data, which are costly to obtain. In this study, we propose the Semixup algorithm, a semi-supervised learning (SSL) approach to leverage unlabeled data. Semixup relies on consistency regularization using in- and out-of-manifold samples, together with interpolated consistency. On an independent test set, our method significantly outperformed other state-of-the-art SSL methods in most cases. Finally, when compared to a well-tuned fully supervised baseline that yielded a balanced accuracy (BA) of 70.9 ± 0.8% on the test set, Semixup had comparable performance - BA of 71 ± 0.8% ( p=0.368 ) while requiring 6 times less labeled data. These results show that our proposed SSL method allows building fully automatic OA severity assessment tools with datasets that are available outside research settings.


Assuntos
Osteoartrite do Joelho , Algoritmos , Humanos , Variações Dependentes do Observador , Osteoartrite do Joelho/diagnóstico por imagem , Radiografia , Aprendizado de Máquina Supervisionado
20.
Medicina (Kaunas) ; 56(2)2020 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-32074972

RESUMO

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.


Assuntos
Proteínas de Ciclo Celular/genética , Síndrome de Cornélia de Lange/genética , Proteínas de Ciclo Celular/análise , Síndrome de Cornélia de Lange/epidemiologia , Síndrome de Cornélia de Lange/fisiopatologia , Feminino , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Lactente , Masculino , Mutação/genética , Vietnã/epidemiologia
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