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1.
Infez Med ; 32(2): 222-230, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38827828

RESUMO

Mycoplasma genitalium is an emerging sexually transmitted infection, with increasing rates of macrolide resistance and some ways of treatments being recommended by many countries. This study aimed to investigate the prevalence of M. genitalium infection, M. genitalium co-infection with other sexually transmitted organisms, and the frequency of macrolide antibiotic resistance genotypes identified in urethral specimens collected from male and urethral, vaginal and cervical specimens from female who visited the STIs clinic of HCMC Hospital of Dermato-Venereology, Vietnam. The results obtained positive samples for C. trachomatis was 8.46%, N. gonorrhoeae was 6.28%, and M. genitalium was 5.95%. Fifty-five out of 90 M. genitalium samples were found to have mutations in the 23S rRNA gene associated with macrolide resistance (61.11%). M. genitalium/C. trachomatis co-infection was 6.19%, and M. genitalium/N. gonorrhoeae was 1.22%. The percentage of M. genitalium carrying the macrolide resistance mutant gene co-infected with C. trachomatis accounted for 37.50%. The high prevalence of the M. genitalium mutations associated with macrolide resistance showed the importance of M. genitalium testing.

2.
Acta Crystallogr E Crystallogr Commun ; 80(Pt 6): 630-635, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38845708

RESUMO

Three organoplatinum(II) complexes bearing natural aryl-olefin and quinoline derivatives, namely, [4-meth-oxy-5-(2-meth-oxy-2-oxoeth-oxy)-2-(prop-2-en-1-yl)phen-yl](quinolin-8-olato)platinum(II), [Pt(C13H15O4)(C9H6NO)], (I), [4-meth-oxy-5-(2-oxo-2-propoxyeth-oxy)-2-(prop-2-en-1-yl)phen-yl](quinoline-2-carboxy-l-ato)platinum(II), [Pt(C15H19O4)(C10H6NO2)], (II), and chlorido-[4-meth-oxy-5-(2-oxo-2-propoxyeth-oxy)-2-(prop-2-en-1-yl)phen-yl](quinoline)-plat-inum(II), [Pt(C15H19O4)Cl(C9H7N)], (III), were synthesized and structurally characterized by IR and 1H NMR spectroscopy, and by single-crystal X-ray diffraction. The results showed that the cyclo-platinated aryl-olefin coordinates with PtII via the carbon atom of the phenyl ring and the C=Colefinic group. The deprotonated 8-hy-droxy-quinoline (C9H6NO) and quinoline-2-carb-oxy-lic acid (C10H6NO2) coordinate with the PtII atom via the N and O atoms in complexes (I) and (II) while the quinoline (C9H7N) 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=Colefinic 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)] inter-actions.

3.
Nat Prod Res ; : 1-8, 2024 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-38824679

RESUMO

This study attempts to reveal antioxidants in the plant parts of Myxopyrum smilacifolium (Wall.) Blume using antioxidant assays and LC-MS/MS analysis. Methanol is the most effective solvent for collecting antioxidants. The roots-derived methanol extract demonstrates the greatest antioxidant activity, corresponding to the extremely low IC50 values of 16.39 µg/mL and 19.80 µg/mL for DPPH and ABTS radicals, respectively. The high phenolic and flavonoid contents are the primary reason for outstanding total antioxidant capacity (TAC; i.e. 247.73 ± 1.62 mg GA/g or 163.93 ± 0.83 mg AS/g) of the root extract. LC-MS/MS quantification of five phenolic compounds reveals exceptionally high amounts of quercetin and luteolin in the root extract, ranging from 238.86 ± 5.74 to 310.99 ± 1.44 µg/g and from 201.49 ± 7.84 to 234.10 ± 2.54 µg/g, respectively, in the root-derived methanol extract. The achievement highlights M. smilacifolium as a promising source of natural antioxidants for large-scale medical applications.

4.
ChemMedChem ; : e202400316, 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38856518

RESUMO

We are reporting a short and convenient pathway for the synthesis of novel ß-carboline-bisindole hybrid compounds from relatively cheap and commercially available chemicals such as tryptamine, dialdehydes and indoles. These newly designed compounds can also be prepared in high yields with the tolerance of many functional groups under mild conditions. Notably, these ß-carboline-bisindole hybrid compounds exhibited some promising applications as anticancer agents against the three common cancer cell lines MCF-7 (breast cancer), SK-LU-1 (lung cancer), and HepG2 (liver cancer). The two best compounds 5b and 5g inhibited the aforementioned cell lines with the same range of the reference Ellipticine at less than 2 µM. A molecular docking study to gain more information about the interactions between the synthesized molecules and the kinase domain of the EGFR was performed. Therefore, this finding can have significant impacts on the development of future research in medicinal chemistry and drug discovery.

5.
Sex Reprod Healthc ; 41: 100998, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38906085

RESUMO

PURPOSE: While programs had been implemented by both the government and non-governmental organizations to address inequity in maternal health care in mountainous areas in Vietnam, the expected outcomes were not fully reached due to existing barriers from health workers mainly providing the health services. This study explores prominent issues faced by health workers in delivering maternal care in Cao Bang, focusing on their impact on the local population's daily lives and overall development. METHODS: A qualitative study was conducted with 15 participants working as health managers, commune health workers, commune midwives, and village health workers in selected communes of a mountainous and border district located in the Northeast Cao Bang province. RESULTS: Main barriers include the incompetent healthcare workforce, ineffective use of facility resources, lack of work commitment, and unscientific traditional beliefs. CONCLUSION: Future community programs should implement strict policies, defined rights, and clear responsibilities for health workers handling these obstacles to optimize the quality of maternal health care services in these remote areas.

6.
PLoS One ; 19(5): e0304278, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38814919

RESUMO

OBJECTIVE: To investigate the correlation between oxygen saturation index (OSI) and oxygenation index (OI) for evaluating the blood oxygenation status in neonates with respiratory failure requiring mechanical ventilation support and to assess the predictive capability of OSI in determining clinically relevant OI cutoffs. METHODS: A prospective study was conducted on neonates who received invasive mechanical ventilation at the neonatal intensive care unit of tertiary hospital in Vietnam. Bland-Altman analysis was utilized to evaluate the agreement between OSI and OI. RESULTS: A total of 123 neonates, including both term and preterm infants, were included in the study. A high agreement rate of 94.3% within the 95% limits of agreement (between OI and OSI), with a narrow similarity value of 3.3 (95% CI: -5.1 to 11.8) and high correlation coefficient (r = 0.791, p<0.001) was observed. The OSI cut-off value for predicting an OI of >15 was determined to be 7.45, with a sensitivity of 100% and a specificity of 87.4% (AUC 0.955; 95% CI: 0.922-0.989, p < 0.05). Similarly, an OSI cutoff value of 9.9 corresponded to an OI of 25, displaying a sensitivity of 100% and specificity of 87.4% (AUC 0.92). The receiver operating characteristic (ROC) curves for OSI exhibited statistically significant results (p < 0.05). CONCLUSION: The findings demonstrate a strong correlation between OSI and OI in neonates with respiratory failure. Furthermore, OSI, as a non-invasive method, can serve as a substitute for OI to evaluate the severity of hypoxic respiratory failure and lung injury in neonates.


Assuntos
Saturação de Oxigênio , Respiração Artificial , Insuficiência Respiratória , Humanos , Recém-Nascido , Insuficiência Respiratória/terapia , Insuficiência Respiratória/sangue , Masculino , Feminino , Estudos Prospectivos , Hipóxia/sangue , Hipóxia/diagnóstico , Oxigênio/metabolismo , Oxigênio/sangue , Unidades de Terapia Intensiva Neonatal , Recém-Nascido Prematuro , Curva ROC
7.
Acta Crystallogr E Crystallogr Commun ; 80(Pt 5): 550-554, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38721425

RESUMO

The complex [Pt(C9H6NO)Cl(C2H4)], (I), was synthesized and structurally characterized by ESI mass spectrometry, IR, NMR spectroscopy, DFT calculations and X-ray diffraction. The results showed that the deprotonated 8-hy-droxy-quinoline (C9H6NO) coordinates with the PtII atom via the N and O atoms while the ethyl-ene coordinates in the η2 manner and in the trans position compared to the coordinating N atom. The crystal packing is characterized by C-H⋯O, C-H⋯π, Cl⋯π and Pt⋯π inter-actions. Complex (I) showed high selective activity against Lu-1 and Hep-G2 cell lines with IC50 values of 0.8 and 0.4 µM, respectively, 54 and 33-fold more active than cisplatin. In particular, complex (I) is about 10 times less toxic to normal cells (HEK-293) than cancer cells Lu-1 and Hep-G2. Furthermore, the reaction of complex (I) with guanine at the N7 position was proposed and investigated using the DFT method. The results indicated that replacement of the ethyl-ene ligand with guanine is thermodynamically more favorable than the Cl ligand and that the reaction occurs via two consecutive steps, namely the replacement of ethyl-ene with H2O and the water with the guanine mol-ecule.

8.
J Imaging ; 10(5)2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38786551

RESUMO

This paper presents a novel approach to mind-wandering prediction in the context of webcam-based online learning. We implemented a Singular Value Decomposition (SVD)-based 1D temporal eye-signal extraction method, which relies solely on eye landmark detection and eliminates the need for gaze tracking or specialized hardware, then extract suitable features from the signals to train the prediction model. Our thorough experimental framework facilitates the evaluation of our approach alongside baseline models, particularly in the analysis of temporal eye signals and the prediction of attentional states. Notably, our SVD-based signal captures both subtle and major eye movements, including changes in the eye boundary and pupil, surpassing the limited capabilities of eye aspect ratio (EAR)-based signals. Our proposed model exhibits a 2% improvement in the overall Area Under the Receiver Operating Characteristics curve (AUROC) metric and 7% in the F1-score metric for 'not-focus' prediction, compared to the combination of EAR-based and computationally intensive gaze-based models used in the baseline study These contributions have potential implications for enhancing the field of attentional state prediction in online learning, offering a practical and effective solution to benefit educational experiences.

9.
J Fungi (Basel) ; 10(5)2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38786707

RESUMO

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.

10.
Curr Genet ; 70(1): 7, 2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38743270

RESUMO

Fermented eggplant is a traditional fermented food, however lactic acid bacteria capable of producing exopolysaccharide (EPS) have not yet been exploited. The present study focused on the production and protective effects against oxidative stress of an EPS produced by Lacticaseibacillus paracasei NC4 (NC4-EPS), in addition to deciphering its genomic features and EPS biosynthesis pathway. Among 54 isolates tested, strain NC4 showed the highest EPS yield and antioxidant activity. The maximum EPS production (2.04 ± 0.11 g/L) was achieved by culturing in MRS medium containing 60 g/L sucrose at 37 °C for 48 h. Under 2 mM H2O2 stress, the survival of a yeast model Saccharomyces cerevisiae treated with 0.4 mg/mL NC4-EPS was 2.4-fold better than non-treated cells, which was in agreement with the catalase and superoxide dismutase activities measured from cell lysates. The complete genome of NC4 composed of a circular chromosome of 2,888,896 bp and 3 circular plasmids. The NC4 genome comprises more genes with annotated function in nitrogen metabolism, phosphorus metabolism, cell division and cell cycle, and iron acquisition and metabolism as compared to other reported L. paracasei. Of note, the eps gene cluster is not conserved across L. paracasei. Pathways of sugar metabolism for EPS biosynthesis were proposed for the first time, in which gdp pathway only present in few plant-derived bacteria was identified. These findings shed new light on the cell-protective activity and biosynthesis of EPS produced by L. paracasei, paving the way for future efforts to enhance yield and tailor-made EPS production for food and pharmaceutical industries.


Assuntos
Fermentação , Lacticaseibacillus paracasei , Estresse Oxidativo , Polissacarídeos Bacterianos , Solanum melongena , Polissacarídeos Bacterianos/biossíntese , Polissacarídeos Bacterianos/metabolismo , Solanum melongena/microbiologia , Solanum melongena/genética , Solanum melongena/metabolismo , Lacticaseibacillus paracasei/metabolismo , Lacticaseibacillus paracasei/genética , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Antioxidantes/metabolismo , Peróxido de Hidrogênio/metabolismo , Genoma Bacteriano , Alimentos Fermentados/microbiologia , Superóxido Dismutase/metabolismo , Superóxido Dismutase/genética
11.
Adv Neonatal Care ; 24(3): E47-E55, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38729651

RESUMO

BACKGROUND: The neonatal phase is vital for child survival, with a substantial portion of deaths occurring in the first month. Neonatal mortality rates differ significantly between Vietnam (10.52/1000 live births) and the United States (3.27/1000). In response to these challenges, interventions such as the Helping Babies Breathe (HBB) program have emerged, aiming to enhance the quality of care provided during childbirth, and the postpartum period in low-resource settings. PURPOSE: The purpose of this study was to explore stakeholder perceptions of the HBB program in Vietnam postpandemic, aiming to identify requisites for resuming training. METHODS: Utilizing qualitative content analysis, 19 in-person semistructured interviews were conducted with diverse stakeholders in 2 provinces of Central Vietnam. RESULTS: The content analysis revealed following 5 main themes: (1) the pandemic's impact on HBB training; (2) resource needs for scaling up HBB training as the pandemic abates; (3) participants' perceptions of the pandemic's effect on HBB skills and knowledge; (4) the pandemic's influence on a skilled neonatal resuscitation workforce; and (5) future prospects and challenges for HBB training in a postpandemic era. IMPLICATIONS FOR PRACTICE AND RESEARCH: This research highlights the importance of sustainable post-HBB training competencies, including skill assessment, innovative knowledge retention strategies, community-based initiatives, and evidence-based interventions for improved healthcare decision-making and patient outcomes. Healthcare institutions should prioritize skill assessments, refresher training, and collaborative efforts among hospitals, authorities, non-government organizations, and community organizations for evidence-based education and HBB implementation.


Assuntos
Pesquisa Qualitativa , Ressuscitação , Humanos , Vietnã , Recém-Nascido , Ressuscitação/educação , Feminino , Masculino , Adulto , Asfixia Neonatal/terapia , Mortalidade Infantil , Lactente
12.
Pediatr Int ; 66(1): e15770, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38641933

RESUMO

BACKGROUND: WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott-Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported. METHODS: We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology. RESULTS: We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non-stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients. CONCLUSION: Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.


Assuntos
Síndrome de Wiskott-Aldrich , Humanos , Masculino , Análise Mutacional de DNA , Mutação , Vietnã , Síndrome de Wiskott-Aldrich/diagnóstico , Síndrome de Wiskott-Aldrich/genética , Proteína da Síndrome de Wiskott-Aldrich/genética
13.
Health Sci Rep ; 7(4): e2026, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38585012

RESUMO

Background and Aims: Job satisfaction of healthcare workers from conventional and university hospitals (or teaching hospitals) might be different due to several factors, for example medical staff required to carry out multiple clinical and teaching tasks simultaneously. Our study aimed to determine how the job satisfaction among healthcare workers in university hospitals is different from those in conventional hospitals. Methods: A cross-sectional study was conducted by using the validated and contextualized job satisfaction tool for the Vietnamese context to survey 216 healthcare workers at a university hospital in Vietnam from January to March 2020 with online Google forms. Results: The results indicated low overall job satisfaction (43.1%) in our study university hospital with the score cutoff of 80%. However, healthcare workers still reported high job satisfaction rates in certain aspects, such as personal empathy (70.8%), discipline, and reward (67.6%), co-worker collaboration (65.3%), training and promotion (63%), workplace environment (57.4%), and salary and allowance (44.9%). Subgroup analysis revealed statistically significant differences in job satisfaction (p < 0.01) related to age (31 to 40-year-old), and job position with ORs 3.9, and 8.6 respectively. Conclusion: University hospitals need to improve the healthcare workers' job satisfaction. It is recommended that special human resource strategies should be developed focusing on keeping satisfying older healthcare staff by recognizing their contributions and providing appropriate benefits based on their positions in the hospital.

14.
Hum Immunol ; 85(3): 110796, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38580537

RESUMO

The diversity of clinical manifestations in COVID-19 has been observed not only among individuals but also among various populations in globally. HLA molecules play a central role in physiology, protective immunity, and deleterious, disease-related autoimmune reactivity or overreaction. This study exploited the association between HLA frequencies and SARS-CoV-2 susceptibility and disease severity among the Vietnamese cohort (159 patients and 52 controls). A significant difference in frequency of both HLA class I and II in mild, moderate, and severe/fatal COVID-19 patients and negative exposure individuals - the controls were observed. Regarding SARS-CoV-2 sensitivity, HLA-A*03:01, 30:01, HLA-DQA1*01:02, DRB1*15:01, and DRB5*02:02 presented higher frequency in the control group compared with infected patients but DRB1 09:01 frequency was higher in infected patients. Regarding COVID-19 severity, HLA-F*01:01, 01:03 and DPA1*01:03 and 02:01, DPB1*04:01, DQA1*01:02, and DQB1*05:02 alleles were detected with higher frequency in severe patients but DOB*01:01, DRB1*05:01 and 09:01 had a significantly higher frequency in the mild group than remaining groups. Surprisingly, HLA-DQA1*01:02 and DRB1*09:01 alleles were identified with both inversely potential roles in protective function and severe risk. The obtained data herein will contribute to explore on the role of host genetic background in the pathology of COVID-19 disease.


Assuntos
COVID-19 , Frequência do Gene , Predisposição Genética para Doença , Índice de Gravidade de Doença , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Alelos , COVID-19/genética , COVID-19/imunologia , Antígenos HLA/genética , População do Sudeste Asiático , Vietnã
15.
Sci Data ; 11(1): 321, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38548727

RESUMO

Flexible bronchoscopy has revolutionized respiratory disease diagnosis. It offers direct visualization and detection of airway abnormalities, including lung cancer lesions. Accurate identification of airway lesions during flexible bronchoscopy plays an important role in the lung cancer diagnosis. The application of artificial intelligence (AI) aims to support physicians in recognizing anatomical landmarks and lung cancer lesions within bronchoscopic imagery. This work described the development of BM-BronchoLC, a rich bronchoscopy dataset encompassing 106 lung cancer and 102 non-lung cancer patients. The dataset incorporates detailed localization and categorical annotations for both anatomical landmarks and lesions, meticulously conducted by senior doctors at Bach Mai Hospital, Vietnam. To assess the dataset's quality, we evaluate two prevalent AI backbone models, namely UNet++ and ESFPNet, on the image segmentation and classification tasks with single-task and multi-task learning paradigms. We present BM-BronchoLC as a reference dataset in developing AI models to assist diagnostic accuracy for anatomical landmarks and lung cancer lesions in bronchoscopy data.


Assuntos
Broncoscopia , Neoplasias Pulmonares , Humanos , Inteligência Artificial , Neoplasias Pulmonares/diagnóstico por imagem , Tórax/diagnóstico por imagem , Pontos de Referência Anatômicos/diagnóstico por imagem
16.
Sci Rep ; 14(1): 7461, 2024 03 29.
Artigo em Inglês | MEDLINE | ID: mdl-38553482

RESUMO

The common autosomal recessive (AR) mutation carrier is still unknown in Vietnam. This study aims to identify the most common AR gene mutation carriers in women of reproductive age to build a Vietnamese-specific carrier screening panel for AR and X-linked disorders in the preconception and prenatal healthcare program. A cross-sectional study was conducted at University Medical Center-Branch 2 in Ho Chi Minh City from December 1st, 2020, to June 30th, 2023. 338 women have consented to take a 5 mL blood test to identify 540 recessive genes. The carrier screening panel was designed based on the American College of Medical Genetics and Genomics (ACMG)-recommended genes and suggestions from 104 clinical experts in Vietnam. Obstetricians and genetic experts counseled all positive testing results to discuss the possibility of recessive diseases in their offspring. The most common recessive disorders were defined at a prevalence of 1 in 60 or greater, and those were added to a Vietnamese-specific carrier screening panel. 338 non-pregnant and pregnant women underwent the expanded carrier screening (ECS). The carrier frequency was 63.6%, in which 215 women carried at least one AR gene mutation. GJB2 hearing impairment was identified as the most common chronic condition (1 in 5). The second most common AR disorder was beta-thalassemia (1 in 16), followed by cystic fibrosis (1 in 23), G6PD deficiency (1 in 28), Wilson's disease (1 in 31), Usher's syndrome (1 in 31), and glycogen storage disease (1 in 56). Seven common recessive genes were added in ethnic-based carrier screening. Women in the South of Vietnam have been carried for many recessive conditions at high frequency, such as hearing impairment, genetic anemia, and cystic fibrosis. It is necessary to implement a preconception and prenatal screening program by using seven widely popular AR genes in a Vietnamese-specific carrier screening panel to reduce the burden related to AR and X-linked disorders.


Assuntos
Fibrose Cística , Perda Auditiva , Humanos , Feminino , Gravidez , Testes Genéticos/métodos , Triagem de Portadores Genéticos/métodos , Vietnã/epidemiologia , Fibrose Cística/genética , Prevalência , Estudos Transversais , Mutação , Perda Auditiva/genética
17.
Front Pediatr ; 12: 1165492, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38415210

RESUMO

Background: Pathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot-Marie-Tooth type 2S (CMT2S; OMIM #616155). SMARD1 is a severe and fatal condition characterized by infantile-onset respiratory distress, diaphragmatic palsy, and distal muscular weakness, while CMT2S follows a milder clinical course, with slowly progressive distal muscle weakness and sensory loss, without manifestations of respiratory disorder. Methods: Whole-exome sequencing of the IGHMBP2 gene was performed for eight Vietnamese patients with IGHMBP2-related neuromuscular disorders including five patients with SMARD1 and the others with CMT2S. Results: We identified one novel IGHMBP2 variant c.1574T > C (p.Leu525Pro) in a SMARD1 patient. Besides that, two patients shared the same pathogenic variants (c.1235 + 3A > G/c.1334A > C) but presented completely different clinical courses: one with SMARD1 who deceased at 8 months of age, the other with CMT2S was alive at 3 years old without any respiratory distress. Conclusion: This study is the first to report IGHMBP-2-related neuromuscular disorders in Vietnam. A novel IGHMBP2 variant c.1574T > C (p.Leu525Pro) expressing SMARD1 phenotype was detected. The presence of three patients with the same genotype but distinct clinical outcomes suggested the interaction of variants and other factors including relating modified genes in the mechanism of various phenotypes.

18.
Biosens Bioelectron ; 251: 116097, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38330774

RESUMO

Severe periodontitis affects nearly 1 billion individuals worldwide, highlighting the need for early diagnosis. Here, an integrated system consisting of a microfluidic chip and a portable point-of-care (POC) diagnostic device is developed using a polymethyl methacrylate (PMMA) chip fabrication and a three-dimensional printing technique, which is automatically controlled by a custom-designed smartphone application to routinely assess the presence of a specific periodontitis biomarker, odontogenic ameloblast-associated protein (ODAM). A sandwich-type fluorescence aptasensor is developed on a microfluidic chip, utilizing aptamer pair (MB@OD64 and OD35@FAM) selectively binding to target ODAM. Then this microfluidic chip is integrated into an automated Internet of Things (IoT)-based POC device, where fluorescence intensity, as a signal, from the secondary aptamer binding to ODAM in a sandwich-type binding reaction on the microfluidic chip is measured by a complementary metal oxide semiconductor (CMOS) camera with a 488 nm light-emitting diode (LED) excitation source. Obtained signals are processed by a microprocessor and visualized on a wirelessly connected smartphone application. This integrated biosensor system allows the rapid and accurate detection of ODAM within 30 min with a remarkable limit of detection (LOD) of 0.011 nM under buffer conditions. Clinical application is demonstrated by successfully distinguishing between low-risk and high-risk individuals with 100 % specificity. A strong potential in the translation of this fluorescence-based microfluidic aptasensor integrated with an IoT-based POC system is expected to be employed for non-invasive, on-site, rapid, and accurate ODAM detection, facilitating periodontitis diagnosis.


Assuntos
Técnicas Biossensoriais , Internet das Coisas , Doenças Periodontais , Periodontite , Humanos , Doenças Periodontais/diagnóstico , Periodontite/metabolismo , Proteínas
19.
Korean J Fam Med ; 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38351745

RESUMO

Background: Depression is a mental disorder common worldwide. This study determined the relationships between demographics, health status, household parameters, and depression rates among working-age household heads. Methods: We analyzed data from the Korea Welfare Panel Study Survey conducted in 2020. The 11-item version of the Center for Epidemiologic Studies Depression Scale was used to assess depression. Bivariate analyses and a multiple logistic regression model were used to evaluate the influence of these factors on depression among household heads. Results: The overall prevalence of depression among working-age household heads was 11.69% (19.83% of females and 9.58% of males). The relative risk of depression was 1.71 times higher among the unemployed than among wage earners and 2.18 times higher among those with low income than among those with general income. The relative risk of depression was 3.23 times higher in those with poor health status than in those with good health, and 2.45 times more in those with severe disabilities than in those without disabilities. The rate of depression decreased with education level, number of family members, and presence of children but increased with the presence of the disabled or elderly. Conclusion: This study provides a comprehensive overview of depression among working-age household heads and identifies factors strongly associated with depression. These findings may have implications for policymakers to reduce the burden on and improve the quality of life of household heads.

20.
J Med Case Rep ; 18(1): 90, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38347602

RESUMO

BACKGROUND: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic deletion. Clinical characteristics of this anomaly may express in different symptoms from neurological dysfunction and/or skeletal abnormalities in the later age, but it is rarely reported in pregnancy. CASE PRESENTATION: We present a case in which the Chiari malformation type I was diagnosed with comorbidities of facial anomalies (flatting forehead and micrognathia) and muscular-skeletal dysmorphologies (clenched hands and clubfeet) at the 24+6 weeks of gestation in a 29-year-old Vietnamese pregnant woman. The couple refused an amniocentesis, and the pregnancy was followed up every 4 weeks until a spontaneous delivery occurred at 38 weeks. The newborn had a severe asphyxia and seizures at birth required to have an emergency resuscitation at delivery. He is currently being treated in the intensive neonatal care unit. He carries the novel heterozygous NFIA gene mutation confirmed after birth. No further postnatal malformation detected. CONCLUSION: CMI may only represent with facial abnormalities and muscle-skeletal malformations at the early stage of pregnancy, which may also alert an adverse outcome. A novel heterozygous NFIA gene mutation identified after birth helps to confirm prenatal diagnosis of CMI and to provide an appropriate consultation.


Assuntos
Malformação de Arnold-Chiari , Masculino , Gravidez , Feminino , Recém-Nascido , Humanos , Adulto , Malformação de Arnold-Chiari/diagnóstico , Malformação de Arnold-Chiari/genética , Fatores de Transcrição NFI/genética , Diagnóstico Pré-Natal , Amniocentese , Mutação , Imageamento por Ressonância Magnética
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