Oriented Linear Self-Assembly of Colloidal Nanocrystals through Regioselective Formation of Hydrogen-Bonded Supramolecular Bridges.

The linear assembly of nanocrystals (NCs) with orientational order presents a significant challenge in the field of colloidal assembly. This study presents an efficient strategy for assembling oleic acid (OAH)-capped, faceted rare earth NCs─such as nanorods, nanoplates, and nanodumbbells─into flexible chain-like superstructures. Remarkably, these NC chains exhibit a high degree of particle orientation even with an interparticle distance reaching up to 15 nm. Central to this oriented assembly method is the facet-selective adsorption of low-molecular-weight polyethylene glycol (PEG), such as PEG-400 (Mn = 400), onto specific facets of NCs. This regioselectivity is achieved by exploiting the lower binding affinity of OAH ligands on the (100) facets of rare earth NCs, enabling facet-specific ligand displacement and subsequent PEG attachment. By adjusting the solvent polarity, the linear assembly of NCs is induced by the solvophobic effect, which simultaneously promotes the formation of hydrogen-bonded PEG supramolecular bridges. These supramolecular bridges effectively connect NCs and exhibit sufficient robustness to maintain the structural integrity of the chains, despite the large interparticle spacing. Notably, even when coassembling different types of NCs, the resulting multicomponent chains still feature highly selective facet-to-facet connections. This work not only introduces a versatile method for fabricating well-aligned linear superstructures but also provides valuable insights into the fundamental principles governing the facet-selective assembly of NCs in solution.

Lipid Dysregulation Induced by Gasoline and Diesel Exhaust Exposure and the Interaction with Age.

Limited knowledge exists regarding gasoline and diesel exhaust effects on lipid metabolism. This study collected gasoline and diesel exhaust under actual driving conditions and conducted inhalation exposure on male young and middle-aged C57BL/6J mice for 4 h/day for 5 days to simulate commuting exposure intensity. Additionally, PM2.5 from actual roadways, representing gasoline and diesel vehicles, was generated for exposure to human umbilical vein endothelial cells (HUVECs) and normal liver cells (LO2) for 24, 48, and 72 h to further investigate exhaust particle toxicity. Results showed that diesel exhaust reduced total cholesterol and low-density lipoprotein cholesterol levels in young mice, indicating disrupted lipid metabolism. Aspartate aminotransferase and alanine aminotransferase levels increased by 53.7% and 21.7%, respectively, suggesting potential liver injury. Diesel exhaust exposure decreased superoxide dismutase and increased glutathione peroxidase levels. Cell viability decreased, and reactive oxygen species levels increased in HUVECs and LO2 following exposure to exhaust particles, with dose- and time-dependent effects. Diesel exhaust particles exhibited more severe inhibition of cell proliferation and oxidative damage compared to gasoline exhaust particles. These findings provide novel evidence of the risk of disrupted lipid metabolism due to gasoline and diesel exhaust, emphasizing the toxicity of diesel exhaust.

Correction: Controllable synthesis of star-shaped FeCoMnOx nanocrystals and their self-assembly into superlattices with low-packing densities.

Correction for 'Controllable synthesis of star-shaped FeCoMnOx nanocrystals and their self-assembly into superlattices with low-packing densities' by Zhe Xia et al., Chem. Commun., 2024, 60, 3409-3412, https://doi.org/10.1039/D4CC00332B.

Mining Semantic Correlations Between Mispredictions and Corrections for Interactive Semantic Segmentation.

Interactive semantic segmentation pursues high-quality segmentation results at the cost of a small number of user clicks. It is attracting more and more research attention for its convenience in labeling semantic pixel-level data. Existing interactive segmentation methods often pursue higher interaction efficiency by mining the latent information of user clicks or exploring efficient interaction manners. However, these works neglect to explicitly exploit the semantic correlations between user corrections and model mispredictions, thus suffering from two flaws. First, similar prediction errors frequently occur in actual use, causing users to repeatedly correct them. Second, the interaction difficulty of different semantic classes varies across images, but existing models use monotonic parameters for all images which lack semantic pertinence. Therefore, in this article, we explore the semantic correlations existing in corrections and mispredictions by proposing a simple yet effective online learning solution to the above problems, named correction-misprediction correlation mining ( CM2 ). Specifically, we leverage the correction-misprediction similarities to design a confusion memory module (CMM) for automatic correction when similar prediction errors reappear. Furthermore, we measure the semantic interaction difficulty by counting the correction-misprediction pairs and design a challenge adaptive convolutional layer (CACL), which can adaptively switch different parameters according to interaction difficulties to better segment the challenging classes. Our method requires no extra training besides the online learning process and can effectively improve interaction efficiency. Our proposed CM2 achieves state-of-the-art results on three public semantic segmentation benchmarks.

Effects of heat waves and cold spells on blood parameters: a cohort study of blood donors in Tianjin, China.

BACKGROUND: With the increasing occurrence of extreme temperature events due to climate change, the attention has been predominantly focused on the effects of heat waves and cold spells on morbidity and mortality. However, the influence of these temperature extremes on blood parameters has been overlooked. METHODS: We conducted a cohort study involving 2,752 adult blood donors in Tianjin, China, between January 18, 2013, and June 25, 2021. The generalized additive mixed model was used to investigate the effects and lagged effects of heat waves and cold spells on six blood parameters of blood donors, including alanine aminotransferase (ALT), white blood cell count (WBC), red blood cell count (RBC), hemoglobin (HB), hematocrit (HCT), and platelet count (PLT). Subgroup analyses were stratified by sex, age, and BMI. RESULTS: Heat waves and cold spells are associated with changes in blood parameters, particularly HB and PLT. Heat waves increased HB and PLT, while cold spells increased HB and decreased PLT. The effect of heat waves is greater than that of cold spells. The largest effect of heat waves on HB and PLT occurred at lag1 with 2.6 g/L (95% CI: 1.76 to 3.45) and lag7 with 9.71 × 10^9/L (95% CI: 6.26 to 13.17), respectively, while the largest effect of cold spells on HB and PLT occurred at lag0 with 1.02 g/L (95% CI: 0.71 to 1.33) and lag2 with -3.85 × 10^9/L (95% CI: -5.00 to -2.70), respectively. In subgroup analysis, the effect of cold spells on ALT was greater in the 40-49 age group. CONCLUSION: We indicated that heat waves and cold spells can impact hemoglobin and platelet counts in the human body. These findings provide evidence linking heat waves or cold spells to diseases and may reduce health risks caused by extreme temperature events.

Controllable synthesis of star-shaped FeCoMnOx nanocrystals and their self-assembly into superlattices with low-packing densities.

We present a novel method for synthesizing monodisperse, star-shaped FeCoMnOx nanocrystals with tunable concavity. Through liquid-air interfacial assembly, these colloidal nanostars can form two-dimensional superlattices, which are characterized by low packing densities. Notably, the ability to adjust the degree of concavity of nanostars allows for the tuning of the packing symmetry of the assembled superlattices.

Family resilience, patient-reported symptoms in young stroke dyads: The effect of caregiver readiness and social support.

AIMS AND OBJECTIVES: To investigate empirically the direct effect and potential mechanism of family resilience on patient-reported outcomes among young stroke dyads in China. BACKGROUND: Young patients with stroke have been becoming an important public health issue. According to relevant theories and previous studies, we found that family resilience might play an important role in patient's symptoms. However, it is less clear about the specific relationship and potential mechanisms of these two variables. DESIGN: We used a prospective cross-sectional design. METHODS: A multi-item questionnaire was used to assess the constructs of interest. Researchers progressively constructed and validated conditional process models. The PROCESS macro was used to verify the research hypotheses. RESULTS: A total of 560 questionnaires were collected in this study. We found that family resilience of stroke patients and their spouses had a direct effect on the physical, psychological and social aspects of patient-reported symptoms. We further revealed that caregiver preparedness partially mediated the relationship between family resilience and patient's symptoms in stroke patient-spouse dyads, while perceived social support moderated the relationship between caregiver preparedness and patient's symptoms. Finally, we observed that the impact of caregiver readiness and social support on patients' symptoms predominantly manifested in physical and physiological outcomes. CONCLUSIONS: Our research provides evidence about the positive impact of family resilience on patient-reported symptoms in young stroke dyads. Meanwhile, it further revealed how caregiver preparedness and perceived social support may play out in the relationship. PRACTICE IMPLICATIONS: Our research introduces a novel perspective and pathway to enhance short-term recovery outcomes for patients. It also furnishes clinicians and nurses with evidence to guide the implementation of interventions aimed at improving patient health outcomes and facilitating smoother transitions from the hospital to home. IMPACT: What problem did the study address? Families play a crucial role in a patient's recovery process from illness, with family resilience serving as an important force for families to overcome adversity. However, the impact on patient symptoms and the underlying mechanisms of this relationship are uncertain. Empirical research is required to validate these aspects. What were the main findings? Family resilience has a positive impact on the physical, psychological and social aspects of patient-reported symptoms in young stroke dyads. Both the actor effect and partner effect are supported. The impact of caregiver readiness and social support on patient-reported symptoms is primarily observed in physical and physiological outcomes. Where and on whom will the research have an impact? This study offers a novel approach to enhance the short-term recovery of stroke patients. The researchers believe that the findings of this study will play an even more significant role during patients' transition from the hospital to home. REPORTING METHOD: This study followed the STROBE statement of cross-sectional studies. PATIENT OR PUBLIC CONTRIBUTION: The study was conducted by patients, their spouses, healthcare professionals and the research team.

Effect of consumption of sheep and cow milk on rat brain fatty acid and phospholipid composition.

The effect of sheep milk and cow milk on the lipid composition of rat brain was investigated in two feeding experiments of 28-days duration. Total lipids of the rat brain were extracted using ethanol-hexane, and the fatty acids and phospholipid contents analysed using gas chromatography with flame ionization detection (GC-FID) and phosphorus-31 nuclear magnetic resonance (31P NMR). Furthermore, freeze-dried pooled samples were analysed using attenuated total reflectance Fourier Transform Infrared and Fourier Transform Raman Spectroscopy and analysed with multivariate methods. A significantly (P < 0.05) higher C18:2 content was found in the cow milk group compared with sheep milk-treated groups in Study one. In Study two, a significantly (P < 0.05) lower C16:0 content was present in the sheep milk-treated group compared to the control low Ca/P group. No significant (P > 0.05) differences were observed in the spectroscopy analyses. It is concluded that sheep and cow milks fed to rats for 28-days had a low effect on the brain lipidome.

Effect of online intervention mode on breastfeeding results: a systematic review and meta-analysis.

OBJECTIVE: To evaluate the effect of Internet based intervention model on breastfeeding knowledge, attitude, self-confidence and breastfeeding rate. METHODS: An electronic literature search of PubMed, Embase, Web of Science, Cochrane Library, CINAHL, CNKI, Wanfang, CBM and VIP database was performed using combinations of the keywords "Breastfeeding," "Breastfeeding, Exclusive," "Internet," "Online," and "Website". The retrieval period was from their inception to March 31, 2023. Quality appraisal was performed using the Cochrane 5.1 for randomized controlled trials (RCTs). RevMan5.3 was used for data analysis. RESULTS: Thirty-two studies were included in the review, with a total of 9514 samples. The results of Meta-analysis showed that, compared with routine nursing, the intervention model based on the Internet can effectively improve breastfeeding knowledge and attitude of pregnant women, improve breastfeeding self-confidence (P < 0.05), and improve the rate of exclusive breastfeeding in the short term (within 6 weeks) and the long-term postpartum (3-6 months) had a positive effect on the rate of exclusive breastfeeding (P < 0.05). CONCLUSIONS: The Internet breastfeeding intervention model may be an effective intervention to improve the effect of exclusive breastfeeding. In the future, more high-quality, large-sample randomized controlled trials can be carried out to further explore the effect of the Internet intervention model on breastfeeding.

A patient with tumor necrosis factor receptor-associated periodic syndrome misdiagnosed as Kawasaki disease: A case report and literature review.

This article reports a case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) misdiagnosed as Kawasaki disease and summarizes the clinical features and therapeutic progress of TRAPS and the relationship between its clinical manifestations and gene mutations. We retrospectively analyzed a patient with tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) -mutated auto-inflammatory disease who was misdiagnosed with Kawasaki disease in another hospital. The clinical features and therapeutic progress of TRAPS were analyzed by combining clinical features and gene reports of this case and literature review. TRAPS onset occurred in a female pediatric patient at the age of 4 months. The child and in his father at the age of 6 years, both of whom manifested periodic fever, and recurrent rash, as well as elevated leukocytes, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) during episodes but normal between episodes. This child carried a heterozygous mutation in TNFRSF1A located in the region 6442923-6442931 on chromosome 12. The nucleic acid alteration was: c.298 (exon3) _c.306 (exon3) 291 delCTCAGCTGC, resulting in a 3 amino acid deletion p.L100_C 102del 292 (p.Leu100_Cys102del) (NM_001065). After etanercept treatment, the symptoms of fever and rash disappeared, and the levels of ESR, CRP, interleukin (IL)-1, IL-6, and TNF-α levels were normal. Subsequently, no liver, kidney, or cardiac amyloidosis and severe etanercept-related adverse events were observed at 1-year follow-up. TRAPS pathogenesis is associated with TNFRSF1A mutation, which is characterized by periodic episodes of fever, mostly accompanied by recurrent rashes, periorbital edema, abdominal pain, and serious complications of organ amyloidosis. Moreover, etanercept can effectively alleviate the clinical symptoms and high inflammation level of TRAPS.

Qualitative and quantitative studies on chemical constituents of Ling-gui-zhu-gan decoction: In vitro and in vivo.

Ling-gui-zhu-gan decoction has significant therapeutic effects in the treatment of diseases related to phlegm and fluid retention. In this study, we aimed to qualitatively characterize the chemical constituents of Ling-gui-zhu-gan decoction in vitro and in vivo by HPLC coupled to Fourier transform ion cyclotron resonance MS, and quantitively determine the contents of typical chemical constituents by HPLC method. As a result, a total of 75 chemical constituents were discovered including 37 flavonoids and their glycosides, 20 saponins, 9 sterols, 3 organic acids and their derivatives, 3 lactones, 2 coumarins, and 1 alcohol. Among them, 17 chemical constituents were specifically identified. Subsequently, an HPLC method was established for simultaneous determination of seven chemical constituents. Finally, a total of 40 prototype components were initially detected by HPLC-MS method in the biological samples of rats after their water extract was orally administrated. Among them, 29, 27, 12, and 32 prototype components were detected in plasma, bile, urine, and feces, respectively. Moreover, 34 metabolites, including 16 phase II metabolites, were detected for the first time. In conclusion, this study lays the foundation for the identification of chemical components in vitro and in vivo and the elucidation of the potential pharmacodynamic components of Ling-gui-zhu-gan decoction.

Interpretable LSTM model reveals transiently-realized patterns of dynamic brain connectivity that predict patient deterioration or recovery from very mild cognitive impairment.

Alzheimer's Disease (AZD) is a neurodegenerative disease for which there is now no known effective treatment. Mild cognitive impairment (MCI) is considered a precursor to AZD and affects cognitive abilities. Patients with MCI have the potential to recover cognitive health, can remain mildly cognitively impaired indefinitely or eventually progress to AZD. Identifying imaging-based predictive biomarkers for disease progression in patients presenting with evidence of very mild/questionable MCI (qMCI) can play an important role in triggering early dementia intervention. Dynamic functional network connectivity (dFNC) estimated from resting-state functional magnetic resonance imaging (rs-fMRI) has been increasingly studied in brain disorder diseases. In this work, employing a recent developed a time-attention long short-term memory (TA-LSTM) network to classify multivariate time series data. A gradient-based interpretation framework, transiently-realized event classifier activation map (TEAM) is introduced to localize the group-defining "activated" time intervals over the full time series and generate the class difference map. To test the trustworthiness of TEAM, we did a simulation study to validate the model interpretative power of TEAM. We then applied this simulation-validated framework to a well-trained TA-LSTM model which predicts the progression or recovery from questionable/mild cognitive impairment (qMCI) subjects after three years from windowless wavelet-based dFNC (WWdFNC). The FNC class difference map points to potentially important predictive dynamic biomarkers. Moreover, the more highly time-solved dFNC (WWdFNC) achieves better performance in both TA-LSTM and a multivariate CNN model than dFNC based on windowed correlations between timeseries, suggesting that better temporally resolved measures can enhance the model's performance.

Transient Intervals of Significantly Different Whole Brain Connectivity Predict Recovery vs. Progression from Mild Cognitive Impairment: New Insights from Interpretable LSTM Classifiers.

The high dimensionality and complexity of time-varying measures of functional brain connectivity have created an environment in which a very rich transformation of the data remains difficult to map into disease states without some form of reduction (averaging, clustering, statistical blindness to the multivariate interactions between features that modulate their contributions). In this work, employing a recently developed architecture for long short-term memory classifiers that supports use of gradient-based model interpretability techniques, we predict progression or recovery from mild cognitive impairment (MCI) from an instantaneous (windowless) wavelet-based measure of dynamic functional network connectivity. This time-attention LSTM (TA-LSTM) model achieves 0.79 AUC on the task of predicting which MCI patients who will recover (RMCI) vs. those who will progress (PMCI) to AZD within a three-year timeframe. Using a common gradient-based model interpretation technique, saliency analysis, on this TA-LSTM points to potentially important predictive dynamic biomarkers, including the duration of the highly salient time intervals and the average connectivity patterns within these highly salient intervals.

Bullying Perpetration and Homophobic Teasing: Mediation through Gender Role Attitudes.

Homophobic teasing or name-calling, one form of school-related gender-based violence, refers to the use of derogatory language or actions towards sexual- or gender-nonconforming individuals. Research in the Global North has indicated that it is highly prevalent among adolescents, and is associated with a broad range of negative outcomes for both victims and perpetrators. However, such behaviors remain understudied in China. Using a cross-sectional design, the present study investigated the structural relations between homophobic teasing, bullying perpetration, and gender role attitudes among 1915 Chinese high school students. The results showed that 11.5% of the participants had perpetrated such harassment in the past month. Structural equation analyses revealed that bullying perpetration predicted more teasing involvement, and that the relationship was partially mediated by gender role attitudes among both female and male youth. The moderation effect of sex was found only for the direct effect of bullying; such that males who engaged in bullying were more likely to perpetrate homophobic teasing than females. These findings suggest the need for further examination and effective interventions and preventions for the behavior in Chinese contexts.

Does Friend Support Matter? The Association between Gender Role Attitudes and School Bullying among Male Adolescents in China.

This study investigated the association between gender role attitudes, perceived friend support, and school bullying among male adolescents from 11 schools in two cities in China. A total of 3172 Chinese adolescents between 12 and 20 years of age (48.80% girls and 51.20% boys) completed questionnaires that included measures of bullying, gender role attitudes, and perceived social support. In terms of outcome measures, the Chinese version of the Illinois Bully Scale (IBS), Attitudes toward Women Scale for Adolescents (AWSA), and Multidimensional Scale of Perceived Social Support (MSPSS) were used to assess bullying perpetration, gender role attitudes, and perceived friend support, respectively. Based on masculinity theories and the stress-buffering theory, the study found that male adolescents held more traditional gender role attitudes (t = 30.78, p < 0.001) and reported higher prevalence of bullying behaviors (36.02%) than girls (31.20%). In addition, boys' bullying behaviors were significantly predicted by gender role attitudes through perceived friend support. That is, male youth with more conservative gender role attitudes reported less perceived friend support (adjusted OR = 1.055; SE = 0.013), which elevated their risks of bullying perpetration (adjusted OR = 2.082; SE = 0.302). These findings have critical implications for bullying intervention and prevention through gender equity education.

Fabrication of Oriented Colloidal Crystals from Capillary Assembly of Polymer-Tethered Gold Nanoparticles.

Self-assembled colloidal crystals (CCs) or nanoparticle (NPs) superlattices have attracted significant attention due to their potential applications in many fields. However, due to the complex interactions that govern the self-assembly, it is difficult to predict and control the superstructure organization of CCs. Herein, a facile yet effective way is demonstrated to fabricate oriented CCs from capillary assembly of polymer-tethered gold NPs (AuNPs). Assembly mechanism of polymer-tethered AuNPs and their superlattice structures are systematically studied by in situ small-angle X-ray scattering (SAXS) technology. The results show that the oriented CCs of polymer-tethered AuNPs can be obtained upon solvent evaporation in a capillary tube and the oriented structure is mainly determined by the chain length of polymer ligands and size of AuNPs. Assembly of AuNPs tethered by short-chain ligand can result in oriented face-centered cubic (fcc) superlattice, whereas AuNPs tethered by long-chain ligand can assemble into an oriented body-centered tetragonal (bct) superlattice structure. Interestingly, in situ SAXS study shows that for the sample of bct superlattice structure, a transformation from fcc to bct superlattice upon solvent evaporation is observed, which strongly depends on chain length of ligands. This work provides a useful guide for polymer-tethered AuNPs to prepare orientation colloidal crystals.

An autopsy case of unexpected death due to Addison's disease caused by adrenal tuberculosis.

BACKGROUND: Adrenal tuberculosis is difficult to diagnose due to non-specific symptom. Unexpected death due to adrenal insufficiency after trauma surgery is rare. CASE PRESENTATION: A 45-year-old man, who was admitted to hospital because of trauma to the right hand, died unexpectedly on the 13th day after replantation of amputated fingers. He was diagnosed with brain edema and diluted hyponatremia. Autopsy and histopathologic examination revealed severe brain edema combined with cerebellar tonsillar hernia, extensive destruction of adrenal gland caused by bilateral adrenal tuberculosis and right lung invasive pulmonary tuberculosis. CONCLUSIONS: Trauma and pulmonary tuberculosis complicated with adrenal tuberculosis induced the adrenal crisis, which eventually lead to severe cerebral edema and hernia, and finally death from respiratory and circulatory failure. This autopsy and histopathologic examination suggested a possible pathophysiologic mechanism of sudden death due to diluted hyponatremia after trauma surgery.

Gradient Decomposition Methods for Training Neural Networks With Non-ideal Synaptic Devices.

While promising for high-capacity machine learning accelerators, memristor devices have non-idealities that prevent software-equivalent accuracies when used for online training. This work uses a combination of Mini-Batch Gradient Descent (MBGD) to average gradients, stochastic rounding to avoid vanishing weight updates, and decomposition methods to keep the memory overhead low during mini-batch training. Since the weight update has to be transferred to the memristor matrices efficiently, we also investigate the impact of reconstructing the gradient matrixes both internally (rank-seq) and externally (rank-sum) to the memristor array. Our results show that streaming batch principal component analysis (streaming batch PCA) and non-negative matrix factorization (NMF) decomposition algorithms can achieve near MBGD accuracy in a memristor-based multi-layer perceptron trained on the MNIST (Modified National Institute of Standards and Technology) database with only 3 to 10 ranks at significant memory savings. Moreover, NMF rank-seq outperforms streaming batch PCA rank-seq at low-ranks making it more suitable for hardware implementation in future memristor-based accelerators.

Propofol mediates pancreatic cancer cell activity through the repression of ADAM8 via SP1.

Propofol is a commonly used anesthetic with controversial effects on cancer cells. A growing number of studies have demonstrated that low concentrations of propofol are associated with tumor suppression and when used as an intravenous anesthesia improved recurrence­free survival rates for many cancers, but deeper insights into its underlying mechanism are needed. The study detailed herein focused upon the effect of propofol on pancreatic cancer cells and the mechanism by which propofol reduces A disintegrin and metalloproteinase 8 (ADAM8) expression. The ability of propofol to impact the proliferation, migration and cell cycle of pancreatic cancer cell lines was assessed in vitro. This was mechanistically explored following the identification of SP1 binding sites within ADAM8, which enabled the regulatory effects of specificity protein 1 (SP1) on ADAM8 following propofol treatment to be further explored. Ultimately, this study was able to show that propofol significantly inhibited the proliferation, migration and invasion of pancreatic cancer cells and decreased the percentage of cells in S­phase. Propofol treatment was also shown to repress ADAM8 and SP1 expression, but was unable to affect ADAM8 expression following knockdown of SP1. Moreover, a direct physical interaction between SP1 and ADAM8 was verified using co­immunoprecipitation and dual­luciferase reporter assays. Cumulatively, these results suggest that propofol represses pathological biological behaviors associated with pancreatic cancer cells through the suppression of SP1, which in turn results in lower ADAM8 mRNA expression and protein levels.

[A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene].

OBJECTIVE: To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD). METHODS: The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype. RESULTS: Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively. CONCLUSION: The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.