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We report a case of small bowel obstruction (SBO) caused by internal hernia from Meckel's diverticulum (MD). Abdominal CT scan showed an abnormal dilated blind-ending structure in continuity with the distal ileum in the right lower quadrant, suggesting Meckel's diverticulum. MPR images revealed a "double beak-sign" at the point of MD and a collapsed closed loop with mesenteric vessels converging to the diverticulum. Since the patient has no prior history of abdominal surgery, the diagnosis of internal hernia caused by Meckel's diverticulum was considered. On laparoscopic exploration, an abnormal orifice for internal hernia created by adhesion from the tip of Meckel's diverticulum to the adjacent mesentery was revealed, confirming the diagnosis. The patient was discharged after 7 days without postoperative complications. MD-associated internal hernia is a rare cause of small bowel obstruction and should be considered to avoid delay in treatment. Multidetector Computed Tomography (MDCT) is the first-line imaging modality of choice and may offer some suggestive imaging features to make an accurate preoperative diagnosis.

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In forensics, one-third of sudden deaths remain unexplained after a forensic autopsy. A majority of these sudden unexplained deaths (SUDs) are considered to be caused by inherited cardiovascular diseases. In this study, we investigated 40 young SUD cases (<40 years), with non-diagnostic structural cardiac abnormalities, using Targeted NGS (next-generation sequencing) for 167 genes previously associated with inherited cardiomyopathies and channelopathies. Fifteen cases identified 17 variants on related genes including the following: AKAP9, CSRP3, GSN, HTRA1, KCNA5, LAMA4, MYBPC3, MYH6, MYLK, RYR2, SCN5A, SCN10A, SLC4A3, TNNI3, TNNI3K, and TNNT2. Of these, eight variants were novel, and nine variants were reported in the ClinVar database. Five were determined to be pathogenic and four were not evaluated. The novel and unevaluated variants were predicted by using in silico tools, which revealed that four novel variants (c.5187_5188dup, p.Arg1730llefsTer4 in the AKAP9 gene; c.1454A>T, p.Lys485Met in the MYH6 gene; c.2535+1G>A in the SLC4A3 gene; and c.10498G>T, p.Asp3500Tyr in the RYR2 gene) were pathogenic and three variants (c.292C>G, p.Arg98Gly in the TNNI3 gene; c.683C>A, p.Pro228His in the KCN5A gene; and c.2275G>A, p.Glu759Lys in the MYBPC3 gene) still need to be further verified experimentally. The results of our study contributed to the general understanding of the causes of SUDs. They provided a scientific basis for screening the risk of sudden death in family members of victims. They also suggested that the Targeted NGS method may be used to identify the pathogenic variants in SUD victims.

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OBJECTIVES: We studied the immunogenicity after primary and booster vaccinations of the Abdala COVID-19 vaccine, a receptor-binding domain protein subunit vaccine, in Vietnamese people by determining the level of neutralization and cross-neutralization activities against the ancestral SARS-CoV-2 and its variants and SARS-CoV-1. METHODS: We performed a prospective observational study, enrolling adults aged 19-59 years in Dong Thap province, southern Vietnam, and collected blood samples from baseline until 4 weeks after the booster dose. We measured anti-nucleocapsid, anti-spike, and neutralizing antibodies against SARS-CoV-2 and assessed the cross-neutralization against 14 SARS-CoV-2 variants and SARS-CoV-1. Complementary antibody data came from Vietnamese health care workers fully vaccinated with ChAdOx1-S. RESULTS: After primary vaccination, anti-spike antibody and neutralizing antibodies were detectable in 98.4% and 87% of 251 study participants, respectively, with neutralizing antibody titers similar to that induced by ChAdOx1-S vaccine. Antibody responses after a homologous (Abdala COVID-19) or heterologous (messenger RNA BNT162b2) booster could neutralize 14 SARS-CoV-2 variants (including Omicron) and SARS-CoV-1. CONCLUSIONS: Abdala COVID-19 vaccine is immunogenic in Vietnamese people. Enhanced antibody response after a booster dose could cross-neutralize 14 SARS-CoV-2 variants and SARS-CoV-1. Our results have added to the growing body of knowledge about the contribution of protein subunit vaccine platforms to pandemic control.

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The JNET classification, combined with magnified narrowband imaging (NBI), is essential for predicting the histology of colorectal polyps and guiding personalized treatment strategies. Despite its recognized utility, the diagnostic efficacy of JNET classification using NBI with dual focus (DF) magnification requires exploration in the Vietnamese context. This study aimed to investigate the diagnostic performance of the JNET classification with the NBI-DF mode in predicting the histology of colorectal polyps in Vietnam. A cross-sectional study was conducted at the University Medical Center in Ho Chi Minh City, Vietnam. During real-time endoscopy, endoscopists evaluated the lesion characteristics and recorded optical diagnoses using the dual focus mode magnification according to the JNET classification. En bloc lesion resection (endoscopic or surgical) provided the final pathology, serving as the reference standard for optical diagnoses. A total of 739 patients with 1353 lesions were recruited between October 2021 and March 2023. The overall concordance with the JNET classification was 86.9%. Specificities and positive predictive values for JNET types were: type 1 (95.7%, 88.3%); type 2A (81.4%, 90%); type 2B (96.6%, 54.7%); and type 3 (99.9%, 93.3%). The sensitivity and negative predictive value for differentiating neoplastic from non-neoplastic lesions were 97.8% and 88.3%, respectively. However, the sensitivity for distinguishing malignant from benign neoplasia was lower at 64.1%, despite a specificity of 95.9%. Notably, the specificity and positive predictive value for identifying deep submucosal cancer were high at 99.8% and 93.3%. In Vietnam, applying the JNET classification with NBI-DF demonstrates significant value in predicting the histology of colorectal polyps. This classification guides treatment decisions and prevents unnecessary surgeries.

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The Lower Quang Tri River Group, situated in central Vietnam, faces a myriad of challenges, notably the decline in groundwater levels and the salinisation of both groundwater and surface water, significantly impacting water availability for domestic, agricultural, and industrial purposes. To address these pressing concerns, this study adopts a comprehensive methodology integrating hydrogeological measurements, isotopic techniques, and chemical analyses of various water sources, including local precipitation, surface water bodies, reservoirs, and groundwater samples. Utilising the deuterium and oxygen-18 signatures (δ2H and δ18O) in water molecules as environmental tracers for the assessment of base flow and water sources enables a nuanced understanding of the intricate interaction between surface water and groundwater. Research findings elucidate that during the dry season, groundwater recharge primarily stems from water in the reservoirs over approximately seven months. Base flow contributes between 80 and 85 % of streamflow during the rainy season, escalating to 100 % during the dry season. The mean travelling time of the base flow is estimated at 120 ± 10 days using the sine curve model developed by Rodgers et al. The insights gleaned from this study are poised to play a pivotal role in guiding the local water resources managers in licensing for the exploitation of a right quantities of groundwater as sustainable management strategies in the region.

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This study aimed to use a computational approach that combined the classification-based QSAR model, molecular docking, ADME studies, and molecular dynamics (MD) to identify potential inhibitors of Fyn kinase. First, a robust classification model was developed from a dataset of 1,078 compounds with known Fyn kinase inhibitory activity, using the XGBoost algorithm. After that, molecular docking was performed between potential compounds identified from the QSAR model and Fyn kinase to assess their binding strengths and key interactions, followed by MD simulations. ADME studies were additionally conducted to preliminarily evaluate the pharmacokinetics and drug-like characteristics of these compounds. The results showed that our obtained model exhibited good predictive performance with an accuracy of 0.95 on the test set, affirming its reliability in identifying potent Fyn kinase inhibitors. Through the application of this model in conjunction with molecular docking and ADME studies, nine compounds were identified as potential Fyn kinase inhibitors, including 208 (ZINC70708110), 728 (ZINC8792432), 734 (ZINC8792187), 736 (ZINC8792350), 738 (ZINC8792286), 739 (ZINC8792309), 817 (ZINC33901069), 852 (ZINC20759145), and 1227 (ZINC100006936). MD simulations further demonstrated that the four most promising compounds, 728, 734, 736, and 852 exhibited stable binding with Fyn kinase during the simulation process. Additionally, a web-based platform ( https://fynkinase.streamlit.app/ ) has been developed to streamline the screening process. This platform enables users to predict the activity of their substances of interest on Fyn kinase from their SMILES, using our classification-based QSAR model and molecular docking.

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OBJECTIVE: SEANUTS II Vietnam aims to obtain an in-depth understanding of the nutritional status and nutrient intake of children between 0.5-11.9 years old. DESIGN: Cross-sectional survey. SETTING: A multistage cluster systematic random sampling method was implemented in different regions in Vietnam: North Mountainous, Central Highlands, Red River Delta, North Central and Coastal Area, Southeast and Mekong River Delta. PARTICIPANTS: 4001 children between 6 months and 11.9 years of age. RESULTS: Prevalence of stunting and underweight was higher in rural than in urban children, whereas overweight and obese rates were higher in urban areas. 12.0% of the children had anemia and especially children 0.5-1-year-old were affected (38.6%). Low serum retinol was found in 6.2% of children ≥ 4 years old. Prevalence of vitamin D insufficiency was 31.1% while 60.8% had low serum zinc. For nutrient intake, overall, 80.1% of the children did not meet the estimated energy requirements. For calcium intake, ∼60% of the younger children did not meet the RNI while it was 92.6% in children >7 years old. For vitamin D intake, 95.0% of the children did not meet RNI. CONCLUSIONS: SEANUTS II Vietnam indicated that overnutrition was more prevalent than undernutrition in urban areas, while undernutrition was found more in rural areas. The high prevalence of low serum zinc, vitamin D insufficiency and the inadequate intakes of calcium and vitamin D are of concern. Nutrition strategies for Vietnamese children should consider three sides of malnutrition and focus on approaches for the prevention malnutrition.

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Acetone is a well-known volatile organic compound that is widely used in different industrial and domestic areas, but it can cause dangerous effects on human health. Thus, the fabrication of highly sensitive and selective sensors for recognition of acetone is incredibly important. Here, we prepared the SnO2/Pd-NiO (SPN) nanowires-based gas sensor for the detection of acetone, in which, the amount of Pd nanoparticles were varied to enhance the performance of the devices. We demonstrated that the acetone gas sensing performance of the SPN device was significantly enhanced, showing increases of 3.72 and 6.53 folds compared to pristine SnO2 and NiO sensors, respectively. The Pd-NiO 0.01% wt Pd SPN sensor (SPN-1) exhibited an excellent response (Ra/Rg = 14.88) toward 500 ppm acetone gas. The SPN-1 sensor also showed a fast gas response time of 11/150 seconds with 500 ppm Acetone at 450 °C, while the recovery time was 468/526 seconds. Additionally, the sensor showed good selectivity toward acetone over other reducing gases, such as NH3, CH4, and VOCs. With those results, the SPN-1 sensor shows superiority compared to sensors based on pure materials.

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A simple paper-based chromatography coupling with nickel foam decorated Au nanodendrite (PP-AuND/NiF) was fabricated for simultaneous separation and surface-enhanced Raman scattering (SERS) detection of Rhodamine-6G (R6G) from a mixture of analytes. The three-dimensional porous nickel foam (NiF) was employed as a sampling diffusion platform, and AuND with a high surface active area beneficial for SERS efficiency was electro-deposited directly onto the NiF frame. The structure of AuND/NiF was characterized by X-ray diffraction and scanning electron microscopy. The AuND/NiF could detect R6G at 0.1 nM, and the enhancement factor was 1.84 x 106. The AuND/NiF was durable, with a slight signal decrease after 6 m of drop-testing. Also, upon three days of exposure to ambient air, the signal droped only 3.35 %. Subsequently, the PP-AuND/NiF was constructed by directly situating AuND/NiF on a paper strip, serving as a sample in and out to AuND/NiF. A mixture of two SERS active compounds, namely 2-Naphthalenethiol (2-NpSH) and Rhodamine 6G (R6G), was prepared in ethanol: water (1:1) solution to evaluate PP-AuND/NiF separation capability. Raman measurements along different distances of AuND/NiF were performed, and the signal of 2-NpSH was dismissed after 3.0 mm, while R6G's signals were observed throughout AuND/NiF. In general, the PP-AuND/NiF demonstrated effective separation and SERS measurement of analytes in a mixture, which could be applicable for more complex samples in the future, especially in clinical analysis.

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Hand, foot and mouth disease (HFMD) is highly prevalent in the Asia Pacific region, particularly in Vietnam. To develop effective interventions and efficient vaccination programs, we inferred the age-time-specific transmission patterns of HFMD serotypes enterovirus A71 (EV-A71), coxsackievirus A6 (CV-A6), coxsackievirus A10 (CV-A10), coxsackievirus A16 (CV-A16) in Ho Chi Minh City, Vietnam from a case data collected during 2013-2018 and a serological survey data collected in 2015 and 2017. We proposed a catalytic model framework with good adaptability to incorporate maternal immunity using various mathematical functions. Our results indicate the high-level transmission of CV-A6 and CV-A10 which is not obvious in the case data, due to the variation of disease severity across serotypes. Our results provide statistical evidence supporting the strong association between severe illness and CV-A6 and EV-A71 infections. The HFMD dynamic pattern presents a cyclical pattern with large outbreaks followed by a decline in subsequent years. Additionally, we identify the age group with highest risk of infection as 1-2 years and emphasise the risk of future outbreaks as over 50% of children aged 6-7 years were estimated to be susceptible to CV-A16 and EV-A71. Our study highlights the importance of multivalent vaccines and active surveillance for different serotypes, supports early vaccination prior to 1 year old, and points out the potential utility for vaccinating children older than 5 years old in Vietnam.

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BACKGROUND: Preterm infants are more likely to experience severe respiratory syncytial virus (RSV) disease compared to term infants. The reasons for this are multi-factorial, however their immature immune system is believed to be a major contributing factor. METHODS: We collected cord blood from 25 preterm (gestational age 30.4-34.1 weeks) and 25 term infants (gestation age 37-40 weeks) and compared the response of cord blood mononuclear cells (CBMCs) to RSVA and RSVB stimulation using neutralising assays, high-dimensional flow cytometry, multiplex cytokine assays and RNA-sequencing. FINDINGS: We found that preterm and term infants had similar maternally derived neutralising antibody titres to RSVA and RSVB. Preterm infants had significantly higher myeloid dendritic cells (mDC) RSV infection compared to term infants. Differential gene expression analysis of RSVA stimulated CBMCs revealed enrichment of genes involved in cytokine production and immune regulatory pathways involving IL-10, IL-36γ, CXCL1, CXCL2, SOCS1 and SOCS3 in term infants, while differentially expressed genes (DEGs) in preterm infants were related to cell cycle (CDK1, TTK, ESCO2, KNL1, CDC25A, MAD2L1) without associated expression of immune response genes. Furthermore, enriched genes in term infants were highly correlated suggesting an increased co-ordination of their immune response to RSVA. When comparing DEGs in preterm and term infants following RSVB stimulation, no differences in immune response genes were identified. INTERPRETATION: Overall, our data suggests that preterm infants have a more restricted immunological response to RSVA compared with term infants. While further studies are required, these findings may help to explain why preterm infants are more susceptible to severe RSV disease and identify potential therapeutic targets to protect these vulnerable infants. FUNDING: Murdoch Children's Research Institute Infection and Immunity theme grant.

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We report on a 2023 outbreak of severe hand, foot, and mouth disease in southern Vietnam caused by an emerging lineage of enterovirus A71 subgenogroup B5. Affected children were significantly older than those reported during previous outbreaks. The virus should be closely monitored to assess its potential for global dispersal.

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BACKGROUND: Copper (Cu), an essential trace mineral regulating multiple actions of inflammation and oxidative stress, has been implicated in risk for preterm birth (PTB). OBJECTIVES: This study aimed to determine the association of maternal Cu concentration during pregnancy with PTB risk and gestational duration in a large multicohort study including diverse populations. METHODS: Maternal plasma or serum samples of 10,449 singleton live births were obtained from 18 geographically diverse study cohorts. Maternal Cu concentrations were determined using inductively coupled plasma mass spectrometry. The associations of maternal Cu with PTB and gestational duration were analyzed using logistic and linear regressions for each cohort. The estimates were then combined using meta-analysis. Associations between maternal Cu and acute-phase reactants (APRs) and infection status were analyzed in 1239 samples from the Malawi cohort. RESULTS: The maternal prenatal Cu concentration in our study samples followed normal distribution with mean of 1.92 µg/mL and standard deviation of 0.43 µg/mL, and Cu concentrations increased with gestational age up to 20 wk. The random-effect meta-analysis across 18 cohorts revealed that 1 µg/mL increase in maternal Cu concentration was associated with higher risk of PTB with odds ratio of 1.30 (95% confidence interval [CI]: 1.08, 1.57) and shorter gestational duration of 1.64 d (95% CI: 0.56, 2.73). In the Malawi cohort, higher maternal Cu concentration, concentrations of multiple APRs, and infections (malaria and HIV) were correlated and associated with greater risk of PTB and shorter gestational duration. CONCLUSIONS: Our study supports robust negative association between maternal Cu and gestational duration and positive association with risk for PTB. Cu concentration was strongly correlated with APRs and infection status suggesting its potential role in inflammation, a pathway implicated in the mechanisms of PTB. Therefore, maternal Cu could be used as potential marker of integrated inflammatory pathways during pregnancy and risk for PTB.

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Objective: Human respiratory syncytial virus (RSV) is a primary cause of paediatric severe acute respiratory infection (SARI) worldwide, especially in developing countries. We investigated the genetic characteristics of RSV in northern Viet Nam to determine the prevalence and distribution of subtypes as well as the diversity and transmission patterns of genotypes. Methods: In two facilities, from January 2017 to December 2020, 1563 clinical specimens were collected from paediatric patients hospitalized with SARI and tested for RSV. Selected positive samples underwent sequencing analysis targeting the second hypervariable region of the G gene using next-generation sequencing. Results: The RSV positivity rate was 28.02% (438/1563 samples), and prevalence was highest in children aged < 1 year (43.84%; 192/438). Subtype RSV-A accounted for 53.42% (234/438) of cases, RSV-B for 45.89% (201/438), and there was coinfection in 0.68% (3/438). Both subtypes cocirculated and peaked during August-September in each year of the study. Phylogenetic analysis showed that RSV-A samples belonged to the ON1 genotype, which has three subgenotypes: ON1.1, ON1.2 and ON1.3. However, we did not find the 72-nucleotide duplication in the second hypervariable region of the G gene, a characteristic of genotype ON1, in any RSV-A samples. RSV-B samples belonged to genotype BA9. Discussion: Our results provide additional molecular characterization of RSV infections in Viet Nam. Specially, our study is the first to report the absence of the 72-nucleotide duplication in the G gene of RSV-A genotype ON1 in Viet Nam, which may help in understanding the genetic evolution of RSV and be useful for vaccine development in the future.

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Introduction: Different therapies have been applied to keloids and hypertrophic scars. Intense pulsed light (IPL) has recently been used but the evidence is limited. This study was to evaluate the effectiveness and safety of IPL as monotherapy for keloids and hypertrophic scars. Methods: This was a before-and-after interventional study on 16 patients with 50 scars who underwent IPL. Seven scars receive one IPL session, seven received two sessions, and 36 received three sessions. Outcomes were evaluated by the Vancouver Scar Scale (VSS), Patient and Observer Scar Assessment Scale (POSAS), scar ultrasound, colorimeter for pigmentation and erythema, and side effects. Results: After the treatment, most outcomes significantly improved except that the pigmentation of the scars did not change. Scar thickness significantly reduced by nearly 10% after the first IPL session, 15% after the second session, and>20% after the third session. All side effects were mild with crust (33.3-46%), blisters (8.3-40%), and hyperpigmentation around the scar (0-14%); the pain was moderate as assessed by the patients. Conclusion: IPL is a safe and effective treatment for keloids and hypertrophic scars. More studies are required to confirm our results.

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The chemical investigation of Homotrigona apicalis propolis collected in Binh Dinh province, Vietnam, led to the isolation of nine compounds, including four sesquiterpenes: spathulenol (1), 1αH,5ßH-aromandendrane-4ß,10α-diol (2), 1ß,6α-dihydroxy-4(15)-eudesmene (3), and 1ßH,5ßH-aromandendrane-4α,10ß-diol (4); three triterpenes: acetyl oleanolic acid (5), 3α-hydroxytirucalla-8,24-dien-21-oic acid (6), and ursolic acid (7); and two xanthones: cochinchinone A (8) and α-mangostin (9). Sesquiterpens 1-4 and triterpene 6 were isolated for the first time from stingless bee propolis. Plants in the Cratoxylum and Aglaia genus were suggested as resin sources of the propolis sample. In the antibacterial activity evaluation, the EtOH extract only showed moderate activity on S. aureus, while the isolated compounds 7-9 showed good antibacterial activity, with IC50 values of 0.56 to 17.33 µg/mL. The EtOH extract displayed selective cytotoxicity against the A-549 cancer cell line, with IC50 values of 22.82 ± 0.86 µg/mL, and the xanthones 8 and 9 exhibited good activity against the KB, HepG-2, and A-549 cancer cell lines, with IC50 values ranging from 7.55 ± 0.25 µg/mL to 29.27 ± 2.07 µg/mL. The cytotoxic effects of xanthones 8 and 9 were determined by the inhibition of the EGFR and HER2 pathways using a molecular docking study. Compounds 8 and 9 displayed strong binding affinity with EFGR and HER2, with values of -9.3 to -9.9 kcal/mol. Compounds 5, 8, and 9 showed potential α-glucosidase inhibitory activities, which were further confirmed by computational studies. The binding energies of compounds 5, 8, and 9 were lower than that of arcabose.

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In this paper, we propose two new provable algorithms for tracking online low-rank approximations of high-order streaming tensors with missing data. The first algorithm, dubbed adaptive Tucker decomposition (ATD), minimizes a weighted recursive least-squares cost function to obtain the tensor factors and the core tensor in an efficient way, thanks to an alternating minimization framework and a randomized sketching technique. Under the canonical polyadic (CP) model, the second algorithm, called ACP, is developed as a variant of ATD when the core tensor is imposed to be identity. Both algorithms are low-complexity tensor trackers that have fast convergence and low memory storage requirements. A unified convergence analysis is presented for ATD and ACP to justify their performance. Experiments indicate that the two proposed algorithms are capable of streaming tensor decomposition with competitive performance with respect to estimation accuracy and runtime on both synthetic and real data.

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OBJECTIVE: To evaluate a pharmacist-led intervention's effectiveness in reducing drug-related problems (DRPs ( related to prescriptions for pediatric outpatients. METHODS: We conducted a randomized controlled trial. We recruited and randomly assigned 31 physicians to control or intervention groups. We collected 775 prescriptions (375 from the control group and 400 from the intervention group) at the start. For 3 weeks, intervention physicians received additional information and meetings with pharmacists in addition to the usual practices of the hospital. We then collected prescriptions at the end of the study. We classified DRPs, based on reliable references (Supplemental Table S1) at baseline and endpoint (a week after the intervention). The primary outcome was the proportion of prescriptions with DRPs, and secondary outcomes were the proportions of prescriptions with specific DRP types. RESULTS: The influence of the intervention on general DRPs and specific DRPs was the study's main finding. The pharmacist-led intervention helped reduce the prescriptions with DRPs proportion in the intervention group to 41.0%, compared with 49.3% in the control group (p < 0.05). The DRPs proportion related to the timing of administration relative to meals, unlike the other DRP types, increased in the control group (from 31.7% to 34.9%) and decreased in the intervention group (from 31.3% to 25.3%), with a significant difference between the 2 groups at endpoint (p < 0.01). Patients aged >2 to ≤6 years (OR, 1.871; 95% CI, 1.340-2.613) and receiving ≥5 drugs (OR, 5.037; 95% CI, 2.472-10.261) were at greater risk of experiencing DRPs related to prescribing. CONCLUSIONS: A pharmacist-led intervention improved DRP occurrence related to physicians' prescribing. Pharmacists could be involved in in-depth research with physicians in the prescribing process to provide tailored interventions.

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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.

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As a source of clean energy, hydrogen (H2) is a promising alternative to fossil fuels in reducing the carbon footprint. However, due to the highly explosive nature of H2, developing a high-performance sensor for real-time detection of H2 gas at low concentration is essential. Here, we demonstrated the H2 gas sensing performance of Ag/Pd nanoparticle-functionalized ZnO nanoplates. Bimetallic Ag/Pd nanoparticles with an average size of 8 nm were prepared and decorated on the surface of ZnO nanoplates to enhance the H2 gas sensing performance. Compared with pristine ZnO, the sensor based on ZnO nanoplate doped with Ag/Pd (0.025 wt%) exhibited an outstanding response upon exposure to H2 gas (R a/R g = 78 for 500 ppm) with fast response time and speedy recovery. The sensor also showed excellent selectivity for the detection of H2 over the interfering gases (i.e., CO, NH3, H2S, and VOCs). The superior gas sensing of the sensor was dominated by the morphological structure of ZnO, and the synergistic effect of strong adsorption and the optimum catalytic characteristics of the bimetallic Ag/Pd enhances the hydrogen response of the sensors. Thus, bimetallic Ag/Pd-doped ZnO is a promising sensing material for the quantitative determination of H2 concentration towards industrial applications.