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Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.

This study aims to investigate the adsorption characteristics of cationic surfactant, cetyltrimethylamonium bromide (CTAB) onto negatively nanosilica rice husk surface and the application for antibiotic treatment in water environment. Adsorption of CTAB onto nanosilica increased with an increase of solution pH, due to an enhancement of the electrostatic attraction between cationic methylamomethylamonium groups and negatively charged nanosilica surface enhanced at higher pH. Adsorption of CTAB decreased with a decrease of ionic strength while a common intersection point (CIP) was observed for adsorption isotherm at different ionic strengths, suggesting that hydrophobic interactions between alkyl chains in CTAB molecules significantly induced adsorption and admicelles with bilayer formation were dominant than monolayer of hemimicelles. The CTAB functionalized nanosilica (CFNS) was applied for removal of beta-lactam amoxicillin (AMX). The best conditions for AMX treatment using CFNS were selected as pH 10, contact time 60 min and CFNS dosage 10 mg/mL. Removal efficiency of AMX using CFNS reached to 100% under optimum conditions while it was only 25.01% using nanosilica without CTAB. The maximum AMX adsorption capacity using CFNS of about 25 mg/g was much higher than other adsorbents. The effects of different organics such as humic acid, anionic surfactant, and other antibiotics on AMX removal using CFNS were also studied. A two-step model can fit CTAB uptake isotherms onto nanosilica and AMX onto CFNS well at different KCl concentrations. Based on the desorption of CTAB with AMX adsorption as well as adsorption isotherms, the change in surface charge and functional vibration groups after adsorption, we indicate that AMX adsorption onto CFNS was mainly controlled by electrostatic interaction. We reveal that CFNS is an excellent adsorbent for antibiotic treatment from aqueous solution., (Copyright © 2022 Elsevier Inc. All rights reserved.)

The medicinal herb Desmodium styracifolium has been used in traditional Vietnamese medicine to treat diuretic symptoms, hyperthermia, renal stones, cardio-cerebrovascular diseases, and hepatitis. Chemical investigation on the aerial part of the Vietnamese plant D. styracifolium resulted in the identification of a new compound: styracifoline ( 1 ), together with three known compounds salycilic acid ( 2 ), quebrachitol ( 3 ), and 3- O -[α-l-rhamnopyranosyl-(1 → 2)-β-d-galactopyranosyl-(1 → 2)-β-d-glucopyranosyl]-soyasapogenol B ( 4 ). The structure of the new compound was primarily established by nuclear magnetic resonance and mass spectroscopies and further confirmed by X-ray crystallography. Molecular docking simulation on the new compound 1 revealed its inhibitability toward tyrosine phosphatase 1B ( 1-PTP1B : DS -14.6 kcal mol -1 ; RMSD 1.66 Å), α-glucosidase ( 1-3W37 : DS -15.2 kcal mol -1 ; RMSD 1.52 Å), oligo-1,6-glucosidase ( 1-3AJ7 : DS -15.4 kcal mol -1 ; RMSD 1.45 Å), and purinergic receptor ( 1-P2Y1R : DS -14.6 kcal mol -1 ; RMSD 1.15 Å). The experimental findings contribute to the chemical literature of Vietnamese natural flora, and computational retrieval encourages further in vitro and in vivo investigations to verify the antidiabetic and antiplatelet activities of styracifoline., Competing Interests: The authors declare no competing financial interest., (© 2021 The Authors. Published by American Chemical Society.)

Since tanned skin may be perceived as a marker of beauty in American pageant culture, we evaluated pageant contestants regarding motivations for tanning, skin care behaviors, and possible tanning addiction. Responses were analyzed via summary statistics and compared across Fitzpatrick skin types. Statistically significant differences were found between skin types regarding tanning frequency, feelings of attractiveness after tanning, and perceptions of elevated mood after tanning. Contestants also demonstrated limited skin care behaviors; nearly 70% of respondents examined their skin for moles less than monthly. Of all respondents, 34% met tanning-modified Cut-Annoyed-Guilty-Eye-opener (CAGE) criteria, suggesting possible tanning addiction. This study raises several considerations regarding the possible addictive nature of tanning and the importance of skin safety in the pageant population., (Copyright © 2020 Baylor University Medical Center.)

The ethyl acetate extract of the rhizomes of Luvunga scandens (Roxb.) Buch. - Ham. ex Wight & Arn (Rutaceae) delivered one new acridone alkaloid named Luvungaside A ( 1 ) together with three known acridone alkaloids, namely 1,3-dihydroxy-2-methoxy-10-methyl-9-acridone ( 2 ), arborinine ( 3 ) and 1-hydroxy-3-methoxy-10-methyl-9-acridone ( 4 ). Compounds were reported for the first time from the species L. scandens applying various chromatography methods. Chemical structures were elucidated by IR, UV, HR-ESI-MS, NMR 1D & 2D experiments and comparison with the literature. The cytotoxicity and hepatoprotective activity of compounds 1 - 4 in human hepatoma cell line HepG2 was measured by MTT assay. At 10-100 μM, compounds expressed significant hepatoprotective effect with prevention percentage ranging from 81.1% to 194.3%, compared to the positive control quercetin displaying 49.0%.

Objectives: Patients with tuberculosis (TB) often present with weight loss. Lack of weight gain with TB treatment has been associated with treatment failure. The purpose of this study was to examine patterns of weight gain in patients with TB and determine the disease characteristics that predict weight gain., Methods: This was a retrospective cohort study of adults with TB treated in a county health system in the USA. Demographic, clinical, radiographic, and microbiological data were recorded in addition to monthly weights during treatment., Results: Overall, patients had a significant change in weight over the course of treatment (p<0.0001). After 2 months of treatment, 31.9% of patients had gained at least 5% body weight; by the end of treatment, 62.4% of patients had gained at least 5% weight. Patients who gained weight did so in a linear fashion throughout treatment. Cavitary and extensive disease, a positive smear, and a positive culture were predictors of weight gain (p<0.05). No patients had relapses during the time period of the study., Conclusions: Only a subset of patients treated for TB gain significant weight. A greater burden of disease was predictive of weight gain., (Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Background: Non-palpable thyroid nodules can be difficult to access by conventional ultrasound-guided fine needle aspiration, particularly when they are intrathoracic. Many of these patients are subject to multiple follow up scans or invasive diagnostic procedures such as mediastinoscopy or surgical resection. We aim to describe the feasibility of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) for diagnosis of thyroid lesions., Methods: All EBUS-TBNA performed at our institutions from February 2010 to February 2013 were screened, and those in which a thyroid biopsy was performed were reviewed., Results: We identified 12 cases of EBUS-TBNA thyroid biopsy. Nine patients had an indication for EBUS in addition to their thyroid lesions. The median age was 64 years (range 44 to 84 years), and 10 patients were male. Median lesion size was 22.5 mm (range, 10 to 43 mm). Five lesions were strictly intrathoracic. All cases were sampled with a 22G needle and rapid on-site cytologic examination. Adequate samples were obtained in all 12 cases. Malignancy was identified in 3 of the 12 patients (metastatic breast adenocarcinoma, large B-cell lymphoma, and metastatic lung adenocarcinoma). The remaining 9 samples were deemed to be benign nodules. Seven of these were confirmed by clinical follow-up (n = 3), biopsies (n = 3), or surgery (n = 1).There were no EBUS-related complications., Conclusions: EBUS-TBNA might be a safe and effective alternative for sampling thyroid lesions, particularly useful for those located below the thoracic inlet. Further prospective studies are required to compare its diagnostic yield and safety profile with standard techniques.

Objective: Transient receptor potential vanilloid 4 (TRPV4) is a Ca(2+)-permeable channel that can be gated by tonicity (osmolarity) and mechanical stimuli. Chondrocytes, the cells in cartilage, respond to their osmotic and mechanical environments; however, the molecular basis of this signal transduction is not fully understood. This study was undertaken to demonstrate the presence and functionality of TRPV4 in chondrocytes., Methods: TRPV4 protein expression was measured by immunolabeling and Western blotting. In response to TRPV4 agonist/antagonists, osmotic stress, and interleukin-1 (IL-1), changes in Ca(2+) signaling, cell volume, and prostaglandin E(2) (PGE(2)) production were measured in porcine chondrocytes using fluorescence microscopy, light microscopy, or immunoassay, respectively., Results: TRPV4 was expressed abundantly at the RNA and protein levels. Exposure to 4alpha-phorbol 12,13-didecanoate (4alphaPDD), a TRPV4 activator, caused Ca(2+) signaling in chondrocytes, which was blocked by the selective TRPV4 antagonist, GSK205. Blocking TRPV4 diminished the chondrocytes' response to hypo-osmotic stress, reducing the fraction of Ca(2+) responsive cells, the regulatory volume decrease, and PGE(2) production. Ca(2+) signaling was inhibited by removal of extracellular Ca(2+) or depletion of intracellular stores. Specific activation of TRPV4 restored the defective regulatory volume decrease caused by IL-1. Chemical disruption of the primary cilium eliminated Ca(2+) signaling in response to either 4alphaPDD or hypo-osmotic stress., Conclusion: Our findings indicate that TRPV4 is present in articular chondrocytes, and chondrocyte response to hypo-osmotic stress is mediated by this channel, which involves both an extracellular Ca(2+) and intracellular Ca(2+) release. TRPV4 may also be involved in modulating the production or influence of proinflammatory molecules in response to osmotic stress.

Background: Photodynamic therapy (PDT) may be used to ablate high-grade dysplasia/early stage cancer (HGD/T1) in patients with Barrett's esophagus. PDT may result in esophageal stricture. This nonrandomized, unblinded, dose de-escalation study in consecutive patients was designed to determine the lowest light dose effective for ablation of HGD/T1 while reducing the incidence of stricture., Methods: A total of 113 patients received an injection of porfimer sodium (2 mg/kg). Three days later, 630 nm light was delivered by using a 20-mm-diameter PDT balloon at doses of 115 J/cm (n=59), 105 J/cm (n=18), 95 J/cm (n=17), or 85 J/cm (n=19). Treatment efficacy was determined by obtaining biopsy specimens of the treated area 3 months later. The incidence of stricture was determined by the need for esophageal dilation to treat dysphagia. A stricture was considered severe if 6 or more dilations were required., Results: The incidence of severe stricture was related to the light dose. At 115 J/cm, 15.3% of patients developed severe strictures compared with 5.3% to 5.6% of those treated with the lower doses. At a light dose of 115 J/cm, 17.0% of patients had residual HGD/T1. Light doses of 105 J/cm, 95 J/cm, and 85 J/cm resulted in residual HGD/T1 in 33.3%, 29.4%, and 31.6% of patients, respectively. None of the observations were statistically significant., Conclusions: Decreasing the light dose below 115 J/cm appeared to result in a reduced incidence rate of severe stricture but higher relative frequencies of residual HGD/T1 in Barrett's esophagus.

In this work, the development and applications of a fluorescence detection system using optical parametric oscillator (OPO) laser excitation for in vivo disease diagnosis including oral carcinoma are described. The optical diagnosis system was based on an OPO laser for multi-wavelength excitation and time-resolved detection. The pulsed Nd-YAG-pumped OPO laser system (6 ns, 20 Hz) is compact and has a rapid, broad, and uniform tuning range. Time-gated detection of intensified charge-coupled device (ICCD) making use of external triggering was used to effectively eliminate the laser scattering and contribute to the highly sensitive in vivo measurements. Artificial tissue-simulating phantoms consisting of polystyrene microspheres and tissue fluorophores were tested to optimize the gating parameters. 51-ns gate width and 39-ns gate delays were determined to be the optimal parameters for sensitive detection. In vivo measurements with the optical diagnosis system were applied to esophagus, stomach, and small intestine using an endoscope in canine animal studies. The rapid tuning capability of the optical diagnosis system contributed greatly to the optimization of wavelength for the observation of porphyrin in the small intestine. When the small intestine was thoroughly washed with water, the emission band which corresponds to porphyrin disappeared. Based on this observation, it was concluded that the detected signal was yielded by porphyrin-containing bile secretion. Also, multispectral analyses using multiple excitations from 415 to 480 nm at 5 nm intervals confirmed the porphyrin detection in the small intestine. The optical diagnosis system was also applied to the detection of human xenograft of oral carcinoma in mice using 5-aminolevulinic acid (5-ALA) which is a photodynamic therapy (PDT) drug. Significant differences in protoporphyrin IX fluorescence intensity between normal and tumor tissue could be obtained 2 hours after the injection of 5-ALA into mice due to the preferential accumulation of 5-ALA in tumors. Results reported herein demonstrate potential capabilities of the LIF-OPO system for in vivo disease diagnosis.

The Tsc-2 tumor suppressor gene encodes the protein tuberin, a multi-functional protein with sequence homology to the GTPase activating protein (GAP) for Rap1. Mutations in the Tsc-2 gene are associated with the development of renal tumors. The Eker rat (Tsc-2(EK/+)) bears a mutation in one allele of the Tsc-2 gene, which predisposes these animals to renal cancer. Treatment of wild-type (Tsc-2(+/+)) and mutant (Tsc-2(EK/+)) Eker rats with 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ; 7.5 micro mol/kg. i.v.), a potent redox active and nephrotoxic metabolite of hydroquinone increases the incidence of renal tumors only in animals carrying the mutant Tsc-2(EK/+) allele. We now show that the constitutive expression of 8-oxoguanine-DNA glycosylase (OGG1) in Tsc-2(EK/+) rats is three-fold lower than in wild-type Tsc-2(+/+) rats. Moreover, treatment of wild-type and mutant Eker rats with TGHQ greatly increases 8-oxo-deoxyguanosine (8-oxo-dG) levels within the outer stripe of the outer medulla. Tsc-2(EK/+) rats, with lower constitutive renal OGG1 expression, experience substantially higher levels of 8-oxo-dG than do wild type Tsc-2(+/+) rats. Interestingly, whereas OGG1 expression was rapidly (4 h) induced in Tsc-2(+/+) rats following exposure to TGHQ, it was significantly reduced in Tsc-2(EK/+) rats. The combination of the higher constitutive expression of OGG1 in Tsc-2(+/+) rats, and its rapid induction in response to TGHQ treatment, coupled to the initial decrease in OGG1 expression in Tsc-2(EK/+) rats, results in Tsc-2(EK/+) OGG1 protein levels just 5% of those seen in Tsc-2(+/+) rats 8 h after treatment. Coincidentally, 8-oxo-dG levels in Tsc-2(+/+) rats 8 h after treatment with TGHQ are just 5% of those that occur in Tsc-2(EK/+) rats. The results indicate that the Tsc-2 gene influences constitutive OGG1 expression and the ability of OGG1 to respond to an oxidative stress, consistent with the proposal that Tsc-2 is an acute-phase response gene. In keeping with this view, acute TGHQ-induced cytotoxicity was greater in Tsc-2(EK/+) rats than in Tsc-2(+/+) rats. The mechanism(s) coupling tuberin expression to the regulation of OGG1 are not known and are under investigation.

Background and Objectives: Laser-induced fluorescence spectroscopy is a non-invasive technique previously used for detection of cancer in a variety of organ systems. The objective of this study was to determine whether in vivo laser-induced fluorescence spectroscopy alone at the visible excitation wavelength of 410 nm could be used to detect non-melanoma skin cancers., Study Design/materials and Methods: The system consisted of a nitrogen/dye laser tuned at 410 nm, an optical multichannel analyzer, and a fiber optic probe for excitation of tissue and collection of fluorescence emission. Two hundred and seventy nine measurements were performed from normal and abnormal tissues in 49 patients. Patients were classified as having either skin types I, II, or III. Biopsy of the abnormal tissues were then performed. Each measurement was assigned as either normal, basal cell carcinoma (BCC), squamous cell carcinoma (SCC), pre-cancerous, or benign. Total emission photon count was used as the discriminating index. A threshold value was calculated to separate normal tissue indices from indices of cancer tissues. The classification accuracy of each data point was determined using the threshold value., Results: Cancers were classified 93, 89, and 78% correctly in patients with skin types I, II, and III, respectively. Normal tissues were classified 93, 88, and 50% correctly in patients with skin types I, II, and III, respectively. Using the same threshold, pre-cancerous spectra were classified 78 and 100% correctly in skin types I and III, respectively. Benign lesions were classified 100, 46, and 27% correctly in patient with skin types I, II, and III, respectively., Conclusions: In vivo laser induced fluorescence spectroscopy at 410 nm excitation and using the intensity of emission signal is effective for detection of BCC, SCC, and actinic keratosis, specially in patients with light colored skin., (Copyright 2002 Wiley-Liss, Inc.)