A general chemical principle for creating closure-stabilizing integrin inhibitors.

Integrins are validated drug targets with six approved therapeutics. However, small-molecule inhibitors to three integrins failed in late-stage clinical trials for chronic indications. Such unfavorable outcomes may in part be caused by partial agonism, i.e., the stabilization of the high-affinity, extended-open integrin conformation. Here, we show that the failed, small-molecule inhibitors of integrins αIIbß3 and α4ß1 stabilize the high-affinity conformation. Furthermore, we discovered a simple chemical feature present in multiple αIIbß3 antagonists that stabilizes integrins in their bent-closed conformation. Closing inhibitors contain a polar nitrogen atom that stabilizes, via hydrogen bonds, a water molecule that intervenes between a serine residue and the metal in the metal-ion-dependent adhesion site (MIDAS). Expulsion of this water is a requisite for transition to the open conformation. This change in metal coordination is general to integrins, suggesting broad applicability of the drug-design principle to the integrin family, as validated with a distantly related integrin, α4ß1.

New biomarkers for liver involvement by dengue infection in adult Vietnamese patients: a case-control study.

Liver injury with marked elevation of aspartate aminotransferase enzyme (AST) is commonly observed in dengue infection. To understand the pathogenesis of this liver damage, we compared the plasma levels of hepatic specific, centrilobular predominant enzymes (glutamate dehydrogenase, GLDH; glutathione S transferase-α, αGST), periportal enriched 4-hydroxyphenylpyruvate dioxygenase (HPPD), periportal predominant arginase-1 (ARG-1), and other non-specific biomarkers (paraoxonase-1, PON-1) in patients with different outcomes of dengue infection. This hospital-based study enrolled 87 adult dengue patients, stratified into three groups based on plasma AST levels (< 80, 80-400, > 400 U/L) in a 1:1:1 ratio (n = 40, n = 40, n = 40, respectively. The new liver enzymes in the blood samples from the 4th to 6th days of their illness were measured by commercial enzyme-linked immunosorbent assay (ELISA) or colorimetric kits. Based on the diagnosis at discharge days, our patients were classified as 40 (46%) dengue without warning signs (D), 35 (40.2%) dengue with warning signs (DWS), and 11 (12.6%) severe dengue (SD) with either shock (two patients) or AST level over 1000 U/L (nine patients), using the 2009 WHO classification. The group of high AST (> 400 U/L) also had higher ALT, GLDH, ARG-1, and HPPD than the other groups, while the high (> 400 U/L) and moderate (80-400 U/L) AST groups had higher ALT, αGST, ARG-1, and HPPD than the low AST group (< 80 U/L). There was a good correlation between AST, alanine aminotransferase enzyme (ALT), and the new liver biomarkers such as GLDH, αGST, ARG-1, and HPPD. Our findings suggest that dengue-induced liver damage initiates predominantly in the centrilobular area toward the portal area during the dengue progression. Moreover, these new biomarkers should be investigated further to explain the pathogenesis of dengue and to validate their prognostic utility.

Glycoside constituents from Cayratia geniculata.

Using various chromatographic separations, six glycoside derivatives (1-6), including one new ent-labdane glucoside named cayratioside (1), were isolated from the methanol extract of Cayratia geniculata stems and leaves. Their structures were elucidated by detailed analysis of the 1D, 2D NMR, and HRESIQTOF mass spectra. The inhibitory effect of 1-6 on LPS-induced NO production in RAW264.7 cells was also evaluated. Among isolated compounds, 1 exhibited moderate activity with an IC50 value of 59.65 ± 1.85 µM.

Expanded Polytetrafluoroethylene Combined with Human Acellular Dermis Matrix for the Nasal Reconstruction in Patients with Postoperative Deformities.

INTRODUCTION: Augmentation rhinoplasty is one of five aesthetic surgeries in the world. Expanded polytetrafluoroethylene (ePTFE) has been reported as a rational choice to augment the nasal dorsum and tip. However, its application for nasal tip augmentation has some debates. This study presented a technique using ePTFE grafts combined with human acellular dermis matrix (HADM) to reconstruct a deformed nose caused by previous rhinoplasties. METHODS: 50 female patients who came to the hospital from 08/2022 to 09/2022 for surgical revision of their nasal deformity. ePTFE was applied to reconstruct the nasal dorsum, tip, and columella strut. HADM grafts were utilized to reinforce the reconstructed framework. Patients were evaluated for at least 12 months for both aesthetic and functional results. RESULTS: Postoperatively, the nasal dorsal length increased from 38.9 ± 1.32 to 43.4 ± 1.22 mm; while, the projection of the nasal tip also raised from 19.8 ± 1.16 to 23.9 ± 1.05 mm. 38 patients (76%) reported that their breathing and smelling were improved compared to preoperatively. No cases had implant reactions, extrusion, or warping columella strut. Most of the patients (84%) were satisfied with the surgical outcomes. Three patients (6%) had redness at the nasal tip. The nasal tip of ten patients (20%) was hardened for 3 months postoperatively. There were 6% of patients who developed an infection and 2% of patients had asymmetric soft tissues of the tip 3 postoperative months. CONCLUSION: This technique brought satisfactory aesthetic and functional results to patients, with no extrusion or rejection observed 12 months postoperatively. Infection was a prominent complication that should be considered and strictly monitored. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Evaluation of Dihydroartemisinin-Piperaquine Efficacy and Molecular Markers in Uncomplicated Falciparum Patients: A Study across Binh Phuoc and Dak Nong, Vietnam.

Background and Objectives: Malaria continues to be a significant global health challenge. The efficacy of artemisinin-based combination therapies (ACTs) has declined in many parts of the Greater Mekong Subregion, including Vietnam, due to the spread of resistant malaria strains. This study was conducted to assess the efficacy of the Dihydroartemisinin (DHA)-Piperaquine (PPQ) regimen in treating uncomplicated falciparum malaria and to conduct molecular surveillance of antimalarial drug resistance in Binh Phuoc and Dak Nong provinces. Materials and Methods: The study included 63 uncomplicated malaria falciparum patients from therapeutic efficacy studies (TES) treated following the WHO treatment guidelines (2009). Molecular marker analysis was performed on all 63 patients. Methods encompassed Sanger sequencing for pfK13 mutations and quantitative real-time PCR for the pfpm2 gene. Results: This study found a marked decrease in the efficacy of the DHA-PPQ regimen, with an increased rate of treatment failures at two study sites. Genetic analysis revealed a significant presence of pfK13 mutations and pfpm2 amplifications, indicating emerging resistance to artemisinin and its partner drug. Conclusions: The effectiveness of the standard DHA-PPQ regimen has sharply declined, with rising treatment failure rates. This decline necessitates a review and possible revision of national malaria treatment guidelines. Importantly, molecular monitoring and clinical efficacy assessments together provide a robust framework for understanding and addressing detection drug resistance in malaria.

Porous adsorbent derived from acid activation of food waste biochar: A sustainable approach for novel removal chlorophenol in wastewater.

In this study, porous biochar (PBC) was prepared by acid activation of biochar derived from food waste (FWBC) and used as a suitable approach for the removal of 4-chlorophenol (CP) in wastewater. The characterization of PBC and the influent of different experimental conditions are determined. After the acid activation process, the surface area, porosity, and functional groups of PBC were developed. The removal performances of CP (1 mg/L) by PBC and FWBC were archived at 97.8 and 82.1%, respectively. Adsorption kinetics and isotherms of CP were followed by the second-order and Langmuir models, respectively. The maximum capacities of CP uptake onto mono-layer of FWBC and PBC based on the Langmuir model were determined at 79.8 and 108.7 mg/g, respectively. Besides, PBC could remove more than 89% CP from wastewater within 45 min of reaction time and it is suitable to reuse 8 times with over 60% adsorption efficiency of CP. In addition, the adsorption mechanism and environmental impact were discussed in detail. This work could bring a sustainable approach to the treatment of CP in wastewater as well as the management of food waste in Vietnam.

Effectiveness and safety of a cream product containing zinc oxide for alleviating mosquito bite symptoms.

BACKGROUND: People frequently experience discomfort with immediate wheal, delayed papules, and pruritus from mosquito bites. A topical cream product containing zinc oxide is commercially available for the management of insect bites, but there has been no published evidence for its effectiveness and safety. AIMS: To evaluate the effectiveness and safety of this product in symptoms caused by mosquito bites. METHODS: An open-label, controlled study was performed on 41 healthy participants. All subjects received Aedes aegypti mosquito bites on the forearm. Then test product was randomly applied to the bitten areas of the left or right arm. The other arm was left untreated (control). The onset of pruritus relief was noted. The severity of pruritus was assessed using a visual analogue scale (VAS), ranging from 0 mm (no pruritus) to 100 mm (severe pruritus), and a 4-point pruritus score (0 = none; 1 = mild, not affecting normal activities; 2 = moderate, affecting normal activities to some extent; 3 = severe, significantly affecting activities) at four time points: 15 minutes after the mosquito bite (baseline), as well as 1 hour, 24 hours, and 48 hours after initiating treatment. The size of the bite reaction lesion was also measured at all time points. Any local cutaneous adverse reactions observed during the study were documented. RESULTS: The onset of pruritus relief in the treated group (25 ± 21.7 minutes) was significantly faster compared to the untreated group (118.7 ± 304.8 minutes). The reduction in VAS score at 1 hour was significantly greater in the product group (30.5 ± 16.22) compared to the control group (14.9 ± 9.9). Moreover, there was a significant difference in the reduction of pruritus score at 1 hour, with the product group (1.1 ± 0.5) showing a higher reduction compared to the control group (0.3 ± 0.4). However, there was no significant difference in the reduction of bite lesion size between the two groups. Throughout the study, no adverse events were reported. CONCLUSION: Our preliminary findings indicate that the product effectively reduces pruritus caused by mosquito bites but does not have a significant impact on the size of the bite lesions. The product was found to be safe and may be an option for managing mosquito bites pruritus.

Polycyclic Aromatic Hydrocarbons from Domestic Solid Waste Incinerators in Nam Dinh Province, Northern Area of Vietnam: A Comprehensive Assessment of Emission, Source Markers and Human Health Risk.

A comprehensive research of the polycyclic aromatic hydrocarbons (PAHs) emission from domestic waste incinerators in northern areas of Vietnam, were investigated. Sixty-four samples from two domestic waste incinerators were collected and analyzed for PAHs. The PAHs concentrations in the samples were determined using gas chromatography coupled with mass spectrometry. In April, June, September, and November 2021, Σ16PAHs mean concentrations in chimney air samples were 970.9 ± 57.4, 1061.9 ± 49.8, 1070.7 ± 41.3 and 1136.1 ± 136.5 µg m-3, respectively. The mean emission factors of Σ16PAHs were 7.5 mg/kg. The mean percentages of low molecular weight PAHs were predominant in the analyzed air samples. The toxic equivalent quotient of samples ranged from 30.7 to 41.7 mg/kg, whereas the incremental lifetime cancer risk exceeded 10- 3. This results implied a high level of concern with potentially negative health consequences. The four diagnostic ratios of PAHs were found and can be used for identification of sources markers from domestic waste incinerators.

Level of BTEX in the Areas of Domestic Waste Incinerators in Northern Vietnam: A Comprehensive Assessment of Contamination, Composition and Human Health Risk.

The trend of the treatment of solid domestic waste by the domestic waste incinerator system is an option to improve waste management and to reduce the negative impacts on the environment and human health. Benzene, toluene, ethylbenzene, and xylenes (o-, m- and p-) (BTEX) are toxic chemical environmental contaminants that are released from different sources such as the domestic waste incinerator system. To determine the concentration of BTEX in the ambient air from these incinerator areas, the research team conducted four sampling campaigns in April, June, September, and November 2021, with a total of 80 samples collected. Concentrations of benzene, toluene, (m,p)-xylenes, o- xylenes and ethylbenzene ranged from 4.53 to 36.75 µg/m3, from 16.29 µg/m3 to 125.36 µg/m3, from 2.82 µg/m3 to 31.45 µg/m3, from 1.42 µg/m3 to 25.61 µg/m3, from 1.32 µg/m3 to 10.79 µg/m3, respectively. As a result of the risk assessment, it was determined that the incinerator's exhaust gas caused secondary environmental damage, impacting the health of not only workers but also people living in nearby communities. On that basis, the article recommends applying a number of management measures to minimize the negative impacts of the operation of the solid waste incinerator on the environment and the health of the workers operating the incinerator.

Adipogenesis of ear mesenchymal stem cells (EMSCs): adipose biomarker-based assessment of genetic variation, adipocyte function, and brown/brite differentiation.

Ear mesenchymal stem cells (EMSCs) have been investigated to differentiate into adipocytes, chondrocytes, and muscle cells in vitro. However, the factors controlling adipogenesis of this stem cell population in vitro, function, and type of adipocytes raised from them are still unclear. Here we found that genetics have a modest effect on adipogenic capacity of EMSCs. Adipocytes differentiated from EMSCs have a potential function in lipid metabolism as indicated by expression of lipogenic genes and this function of EMSC adipocytes is regulated by genetics. EMSCs failed to be differentiated into brite/brown adipocytes due to their lack of a thermogenic program, but adipocytes raised from EMSCs showed a fate of white adipocytes. Overall, our data suggest that EMSCs differentiate into functional white adipocytes in vitro and this is genetic-dependent.

Growth Stimulation, Phosphate Resolution, and Resistance to Fungal Pathogens of Some Endogenous Fungal Strains in the Rhizospheres of Medicinal Plants in Vietnam.

Endophytic fungi are recognized for their many potential applications in agriculture, such as supporting cropland expansion and increasing the yield and resistance of plants by creating antibiotics that inhibit the growth of pathogenic microorganisms. In addition, they can produce enzymes that break down hard-to-solubilize substances within soil, dissolve phosphates, fix nitrogen, reduce metals, and produce hormones that promote plant growth (auxin, cytokinin, and gibberellins) to keep crops healthy. In this report, three strains of endophytic fungi, namely, N1, N2, and N3, were isolated from the roots of Stevia rebaudiana (Bert.) Hemsl., Polyscias fruticosa, and Angelica dahurica in some localities in Vietnam. Through a screening process, it was found that they can produce high levels of indole acetic acid (IAA), resolve phosphates, and resist disease, and they were selected to as an alternative to chemical fertilizers to make probiotics in order to increase medicinal plant yields. The results show that the three strains of fungi have the ability to degrade phosphate to 341.90, 1498.46, and 390.79 ppm; the content of IAA produced in the culture medium reached 49.00, 52.35, and 33.34 ppm. Based on some morphological characteristics and an internal transcribed spacer gene sequence analysis of the fungal strains, N1, N2, and N3 were named Penicillium simplicissimum CN7, Talaromyces flavus BC1, and Trichoderma konilangbra DL3, respectively, which have the ability to inhibit the growth of pathogenic fungal strains, such as fungus C. gloeosporioides (CD1), fungus F. oxysporum, fungus L. theobromae N13, and N. dimidiatum. They grow significantly over a period of 5 to 6 days.

Association of Smoking Media Literacy with Vietnamese and South Korean Adolescents' Susceptibility to Smoking.

Studies on how smoking media literacy (SML) is associated with susceptibility to smoking among adolescents in South Korea and Vietnam are scarce. Thus, we examined the association of SML with susceptibility to smoking among adolescents in these countries to initiate a collaborative global health program. In total, 460 adolescents (Vietnam: 277, South Korea: 183) aged 15-18 completed an online cross-sectional survey. SML was measured using the 15-item SML scale. Susceptibility to smoking was measured by three questions on future smoking and if offered a cigarette by a friend. A multiple logistic regression model explored the association of SML with susceptibility to smoking. The study revealed that higher SML was significantly associated with lower susceptibility to smoking among Vietnamese, but not South Korean adolescents. Further studies to identify pathways between other factors associated with SML and susceptibility to smoking are needed to develop culture-specific intervention strategies for smoking prevention.

Comprehensive determination of polychlorinated biphenyls and brominated flame retardants in surface sediment samples from Hanoi urban area, Vietnam: Contamination status, accumulation profiles, and potential ecological risks.

Comprehensive and updated information about polychlorinated biphenyls (PCBs) and brominated flame retardants (BFRs) in surface sediments from Hanoi, the capital city of Vietnam, is rather scarce. In this study, concentrations and profiles of 209 PCBs, 41 polybrominated diphenyl ethers (PBDEs), 2,2',4,4',5,5'-hexabromobiphenyl (BB-153), hexabromocyclododecane (HBCD), pentabromoethylbenzene (PBEB), 1,2-bis(2,4,6-tribromophenoxy)ethane (BTBPE), and decabromodiphenyl ethane (DBDPE) were determined in sediment samples collected from the Red River and some inner-city rivers of Hanoi. Concentrations (ng/g dry weight, median and range) of pollutants decreased in the order: DBDPE (28; not detected ND - 59) ≈ PCBs (27; 1.7-50) > PBDEs (23; 0.20-61) > HBCD (1.2; ND - 5.2) > BTBPE (0.46; ND - 3.6) > BB-153 (0.004; ND - 0.014) > PBEB (ND). Pollutant levels in the inner-city river sediments were about one to two orders of magnitude higher than those measured in the Red River main stream sediments. Tri-to hexa-CBs are major homologs but detailed profiles vary between individual samples, reflecting source and/or seasonal variations. CB-11 and CB-209 were found at higher proportions in sediments than in technical PCB mixtures, suggesting their novel sources from pigments. Deca-BDE and DBDPE are the most predominant BFRs with an increasing trend predicted for DBDPE. A preliminary ecological risk assessment was conducted for these pollutants in sediments. Total PCBs and deca-BDE in a few inner-city river sediments may exhibit adverse effects on benthic organisms, but no serious risk was estimated in general.

Thickness effect on low-power driving of MoS2 transistors in balanced double-gate fields.

In field-effect transistors (FETs), when the thickness of the semiconducting transition metal dichalcogenides (TMDs) channel exceeds the maximum depletion depth, the entire region cannot be completely controlled by a single-gate electric field. The layer-to-layer carrier transitions between the van der Waals interacted TMD layers result in the extraordinary anisotropic carrier transport in the in-plane and out-of-plane directions. The performance of the TMD FETs can be largely enhanced by optimizing the thickness of the TMD channel as well as increasing the effective channel area through which the gate field is delivered. In this study, we investigated the carrier behavior and device performance in double-gate FETs fabricated using a 57 nm thick MoS2, which is thicker than the maximum depletion depth of about 50 nm, and a much thinner 4 nm thick MoS2. The results showed that in the thick MoS2, the gate voltages at both ends formed two independent channels which had no synergistic effect on the device performance owing to the inefficient delivery of the vertical electric field. On the other hand, in the thin MoS2 channel, the double-gate voltages effectively controlled one channel, resulting in twice the carrier mobility and operation in a low electric field region, i.e. below 0.2 MV cm-1.

Serum total iron-binding capacity and iron status in patients with non-dialysis-dependent chronic kidney disease: A cross-sectional study in Vietnam.

BACKGROUND AND OBJECTIVES: We performed this study to evaluate serum iron and ferritin concentrations, serum total iron-binding capacity (TIBC), and proportion of overall iron deficiency among patients with non-dialysisdependent chronic kidney disease (ND-CKD). METHODS AND STUDY DESIGN: A hospital-based cross-sectional observational study was conducted on 175 adult patients with stage 3-5 chronic kidney disease (CKD) by using 51 healthy age-sex-matched Vietnamese adults as the control group. We next examined the prevalence of anemia and determined the serum iron and ferritin concentrations and TIBC. Anemia in CKD was defined as hemoglobin levels <13 g/dL in men and <12 g/dL in women. Transferrin saturation (TSAT, %) was calculated as (serum iron x 100)/TIBC. Functional iron deficiency was defined as serum ferritin >100 ng/mL and TSAT <20%, and absolute iron deficiency was defined as serum ferritin <100 ng/mL and TSAT <20%. Overall iron deficiency was defined as the presence of either absolute or functional iron deficiency. RESULTS: Anemia prevalence in our study was approximately 88.6% with a mean hemoglobin concentration of 9.71±2.26 g/dL. The median serum TIBC was lower in the CKD group (50.4 µmol/L) than in the control group (66.0 µmol/L; p<0.001). The proportion of overall iron deficiency was 44.0%. TIBC had a diagnostic value for overall iron deficiency (area under the ROC curve=0.81; p<0.001). CONCLUSIONS: Anemia and iron deficiency are common in Vietnamese patients with NDCKD. TIBC had diagnostic value for overall iron deficiency.

Endocrine disrupting compounds in sediment from KimNguu river, Northern area of Vietnam: a comprehensive assessment of seasonal variation, accumulation pattern and ecological risk.

This research presents the assessment of seasonal variation, accumulation pattern and ecological risk of selected endocrine disrupting compounds (S-EDCs) in sediment samples covering six sites in KimNguu river, Hanoi, Northern area of Vietnam. Selected EDCs compose polychlorinated biphenyls (PCBs), polycyclic aromatic hydrocarbons (PAHs) and polybrominated diphenyl ethers (PBDEs). Sediment sampling was carried out in dry season (April) and wet season (October) in 2018. Results pointed out a significant contamination with ∑6PCBs, ∑16PAHs and ∑7PBDE concentrations ranging from 4.73 to 36.34 ng g-1 dw, from 3.57 to 84.39 ng g-1 dw and from 4.49 to 12.49 ng g-1 dw, respectively. Composition analyses indicated the predominance of PCB 138, PCB 153, M-PAHs (Middle molecular weight PAHs: BaA, Chr, Pyr, Flt), BDE-47, BDE-99 and BDE-209. The values of TEQDL-PCBs, TEQ∑8PAHs and TEQ∑16PAHs range from 4.6 to 10.4 ng kg-1 dw, from 0.28 to 1.28 ng g-1 dw and from 0.29 to 1.38 ng g-1 dw, respectively. Ecological risks of S-EDCs range from very low to medium levels in the sediment of KimNguu river.

No Clinical Benefit of Empirical Antimicrobial Therapy for Pediatric Diarrhea in a High-Usage, High-Resistance Setting.

Background: Pediatric diarrheal disease presents a major public health burden in low- to middle-income countries. The clinical benefits of empirical antimicrobial treatment for diarrhea are unclear in settings that lack reliable diagnostics and have high antimicrobial resistance (AMR). Methods: We conducted a prospective multicenter cross-sectional study of pediatric patients hospitalized with diarrhea containing blood and/or mucus in Ho Chi Minh City, Vietnam. Clinical parameters, including disease outcome and treatment, were measured. Shigella, nontyphoidal Salmonella (NTS), and Campylobacter were isolated from fecal samples, and their antimicrobial susceptibility profiles were determined. Statistical analyses, comprising log-rank tests and accelerated failure time models, were performed to assess the effect of antimicrobials on disease outcome. Results: Among 3166 recruited participants (median age 10 months; interquartile range, 6.5-16.7 months), one-third (1096 of 3166) had bloody diarrhea, and 25% (793 of 3166) were culture positive for Shigella, NTS, or Campylobacter. More than 85% of patients (2697 of 3166) were treated with antimicrobials; fluoroquinolones were the most commonly administered antimicrobials. AMR was highly prevalent among the isolated bacteria, including resistance against fluoroquinolones and third-generation cephalosporins. Antimicrobial treatment and multidrug resistance status of the infecting pathogens were found to have no significant effect on outcome. Antimicrobial treatment was significantly associated with an increase in the duration of hospitalization with particular groups of diarrheal diseases. Conclusions: In a setting with high antimicrobial usage and high AMR, our results imply a lack of clinical benefit for treating diarrhea with antimicrobials; adequately powered randomized controlled trials are required to assess the role of antimicrobials for diarrhea.

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

BACKGROUND: Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase. CASE PRESENTATION: We performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia, palsy, liver failure and Kayser-Fleischer (K-F) rings and were diagnosed with Wilson disease in the Human Genetics Department, Vietnam National Children's Hospital. The entire coding region and adjacent splice sites of ATP7B gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the ATP7B gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations. CONCLUSIONS: In this study, five mutations in the ATP7B gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans.