Giant chiral magnetoelectric oscillations in a van der Waals multiferroic.

Helical spin structures are expressions of magnetically induced chirality, entangling the dipolar and magnetic orders in materials1-4. The recent discovery of helical van der Waals multiferroics down to the ultrathin limit raises prospects of large chiral magnetoelectric correlations in two dimensions5,6. However, the exact nature and magnitude of these couplings have remained unknown so far. Here we perform a precision measurement of the dynamical magnetoelectric coupling for an enantiopure domain in an exfoliated van der Waals multiferroic. We evaluate this interaction in resonance with a collective electromagnon mode, capturing the impact of its oscillations on the dipolar and magnetic orders of the material with a suite of ultrafast optical probes. Our data show a giant natural optical activity at terahertz frequencies, characterized by quadrature modulations between the electric polarization and magnetization components. First-principles calculations further show that these chiral couplings originate from the synergy between the non-collinear spin texture and relativistic spin-orbit interactions, resulting in substantial enhancements over lattice-mediated effects. Our findings highlight the potential for intertwined orders to enable unique functionalities in the two-dimensional limit and pave the way for the development of van der Waals magnetoelectric devices operating at terahertz speeds.

Tuning commensurability in twisted van der Waals bilayers.

Moiré superlattices based on van der Waals bilayers1-4 created at small twist angles lead to a long wavelength pattern with approximate translational symmetry. At large twist angles (θt), moiré patterns are, in general, incommensurate except for a few discrete angles. Here we show that large-angle twisted bilayers offer distinctly different platforms. More specifically, by using twisted tungsten diselenide bilayers, we create the incommensurate dodecagon quasicrystals at θt = 30° and the commensurate moiré crystals at θt = 21.8° and 38.2°. Valley-resolved scanning tunnelling spectroscopy shows disparate behaviours between moiré crystals (with translational symmetry) and quasicrystals (with broken translational symmetry). In particular, the K valley shows rich electronic structures exemplified by the formation of mini-gaps near the valence band maximum. These discoveries demonstrate that bilayers with large twist angles offer a design platform to explore moiré physics beyond those formed with small twist angles.

Spin-orbit exciton-induced phonon chirality in a quantum magnet.

The interplay of charge, spin, lattice, and orbital degrees of freedom in correlated materials often leads to rich and exotic properties. Recent studies have brought new perspectives to bosonic collective excitations in correlated materials. For example, inelastic neutron scattering experiments revealed non-trivial band topology for magnons and spin-orbit excitons (SOEs) in a quantum magnet CoTiO3 (CTO). Here, we report phonon properties resulting from a combination of strong spin-orbit coupling, large crystal field splitting, and trigonal distortion in CTO. Specifically, the interaction between SOEs and phonons endows chirality to two [Formula: see text] phonon modes and leads to large phonon magnetic moments observed in magneto-Raman spectra. The remarkably strong magneto-phononic effect originates from the hybridization of SOEs and phonons due to their close energy proximity. While chiral phonons have been associated with electronic topology in some materials, our work suggests opportunities may arise by exploring chiral phonons coupled to topological bosons.

Electrostatic moiré potential from twisted hexagonal boron nitride layers.

Moiré superlattices host a rich variety of correlated electronic phases. However, the moiré potential is fixed by interlayer coupling, and it is dependent on the nature of carriers and valleys. In contrast, it has been predicted that twisted hexagonal boron nitride (hBN) layers can impose a periodic electrostatic potential capable of engineering the properties of adjacent functional layers. Here, we show that this potential is described by a theory of electric polarization originating from the interfacial charge redistribution, validated by its dependence on supercell sizes and distance from the twisted interfaces. This enables controllability of the potential depth and profile by controlling the twist angles between the two interfaces. Employing this approach, we further demonstrate how the electrostatic potential from a twisted hBN substrate impedes exciton diffusion in semiconductor monolayers, suggesting opportunities for engineering the properties of adjacent functional layers using the surface potential of a twisted hBN substrate.

Machine learning and multi-omics data reveal driver gene-based molecular subtypes in hepatocellular carcinoma for precision treatment.

The heterogeneity of Hepatocellular Carcinoma (HCC) poses a barrier to effective treatment. Stratifying highly heterogeneous HCC into molecular subtypes with similar features is crucial for personalized anti-tumor therapies. Although driver genes play pivotal roles in cancer progression, their potential in HCC subtyping has been largely overlooked. This study aims to utilize driver genes to construct HCC subtype models and unravel their molecular mechanisms. Utilizing a novel computational framework, we expanded the initially identified 96 driver genes to 1192 based on mutational aspects and an additional 233 considering driver dysregulation. These genes were subsequently employed as stratification markers for further analyses. A novel multi-omics subtype classification algorithm was developed, leveraging mutation and expression data of the identified stratification genes. This algorithm successfully categorized HCC into two distinct subtypes, CLASS A and CLASS B, demonstrating significant differences in survival outcomes. Integrating multi-omics and single-cell data unveiled substantial distinctions between these subtypes regarding transcriptomics, mutations, copy number variations, and epigenomics. Moreover, our prognostic model exhibited excellent predictive performance in training and external validation cohorts. Finally, a 10-gene classification model for these subtypes identified TTK as a promising therapeutic target with robust classification capabilities. This comprehensive study provides a novel perspective on HCC stratification, offering crucial insights for a deeper understanding of its pathogenesis and the development of promising treatment strategies.

Evidence for moiré excitons in van der Waals heterostructures.

Recent advances in the isolation and stacking of monolayers of van der Waals materials have provided approaches for the preparation of quantum materials in the ultimate two-dimensional limit1,2. In van der Waals heterostructures formed by stacking two monolayer semiconductors, lattice mismatch or rotational misalignment introduces an in-plane moiré superlattice3. It is widely recognized that the moiré superlattice can modulate the electronic band structure of the material and lead to transport properties such as unconventional superconductivity4 and insulating behaviour driven by correlations5-7; however, the influence of the moiré superlattice on optical properties has not been investigated experimentally. Here we report the observation of multiple interlayer exciton resonances with either positive or negative circularly polarized emission in a molybdenum diselenide/tungsten diselenide (MoSe2/WSe2) heterobilayer with a small twist angle. We attribute these resonances to excitonic ground and excited states confined within the moiré potential. This interpretation is supported by recombination dynamics and by the dependence of these interlayer exciton resonances on twist angle and temperature. These results suggest the feasibility of engineering artificial excitonic crystals using van der Waals heterostructures for nanophotonics and quantum information applications.

Elucidating Piezoelectricity and Strain in Monolayer MoS2 at the Nanoscale Using Kelvin Probe Force Microscopy.

Strain engineering modifies the optical and electronic properties of atomically thin transition metal dichalcogenides. Highly inhomogeneous strain distributions in two-dimensional materials can be easily realized, enabling control of properties on the nanoscale; however, methods for probing strain on the nanoscale remain challenging. In this work, we characterize inhomogeneously strained monolayer MoS2 via Kelvin probe force microscopy and electrostatic gating, isolating the contributions of strain from other electrostatic effects and enabling the measurement of all components of the two-dimensional strain tensor on length scales less than 100 nm. The combination of these methods is used to calculate the spatial distribution of the electrostatic potential resulting from piezoelectricity, presenting a powerful way to characterize inhomogeneous strain and piezoelectricity that can be extended toward a variety of 2D materials.

A novel biomarker associated with EBV infection improves response prediction of immunotherapy in gastric cancer.

BACKGROUND: Novel biomarkers are required in gastric cancer (GC) treated by immunotherapy. Epstein-Barr virus (EBV) infection induces an immune-active tumor microenvironment, while its association with immunotherapy response is still controversial. Genes underlying EBV infection may determine the response heterogeneity of EBV + GC. Thus, we screened hub genes associated with EBV infection to predict the response to immunotherapy in GC. METHODS: Prognostic hub genes associated with EBV infection were screened using multi-omic data of GC. EBV + GC cells were established and confirmed by EBV-encoded small RNA in situ hybridization (EBER-ISH). Immunohistochemistry (IHC) staining of the hub genes was conducted in GC samples with EBER-ISH assay. Infiltrating immune cells were stained using immunofluorescence. RESULTS: CHAF1A was identified as a hub gene in EBV + GC, and its expression was an independent predictor of overall survival (OS). EBV infection up-regulated CHAF1A expression which also predicted EBV infection well. CHAF1A expression also predicted microsatellite instability (MSI) and a high tumor mutation burden (TMB). The combined score (CS) of CHAF1A expression with MSI or TMB further improved prognostic stratification. CHAF1A IHC score positively correlated with the infiltration of NK cells and macrophages M1. CHAF1A expression alone could predict the immunotherapy response, but its CS with EBV infection, MSI, TMB, or PD-L1 expression showed better effects and improved response stratification based on current biomarkers. CONCLUSIONS: CHAF1A could be a novel biomarker for immunotherapy of GC, with the potential to improve the efficacy of existing biomarkers.

ß2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer.

BACKGROUND: Our previous study demonstrated that ß2-microglobulin (ß2M) promoted ER+/HER2- breast cancer survival via the SGK1/Bcl-2 signaling pathway. However, the role of ß2M has not been investigated in ER-/HER2+ breast cancer. Here, we aimed to determine the role of ß2M in ER-/HER2+ breast cancer. METHODS: The interaction between ß2M and HFE was confirmed by co-immunoprecipitation, mass spectrometry, yeast two-hybrid screening, and His pull-down. The knockdown and overexpression of ß2M or HFE were performed in MDA-MB-453 cells, and ERK signaling pathway was subsequently analyzed via western blotting. Apoptotic cells were detected using flow cytometer. ß2M, HFE, and p-ERK1/2 were examined in tumor and paired adjacent tissues via immunohistochemistry. RESULTS: HFE was found to be an interacting protein of ß2M in ER-/HER2+ breast cancer cells MDA-MB-453 by co-immunoprecipitation and mass spectrometry. A yeast two-hybrid system and His-pull down experiments verified that ß2M directly interacted with HFE. ß2M and HFE as a complex were mainly located in the cytoplasm, with some on the cytomembrane of MDA-MB-453 cells. In addition to breast cancer cells BT474, endogenous ß2M directly interacted with HFE in breast cancer cells MDA-MB-453, MDA-MB-231, and MCF-7. ß2M activated the ERK signaling pathway by interacting with HFE and induced apoptosis of MDA-MB-453 cells. The expression of HFE and p-ERK1/2 showed significantly high levels in HER2-overexpressing breast cancer tumor tissue compared with adjacent normal tissue, consistent with the results obtained from the cell experiments. CONCLUSIONS: ß2M induced apoptosis of tumor cells via activation of the ERK signal pathway by directly interacting with HFE in HER2-overexpressing breast cancer.

Correlation of endolymphatic hydrops and perilymphatic enhancement with the clinical features of Ménière's disease.

OBJECTIVES: To use three-dimensional real inversion recovery (3D-real IR) MRI to investigate correlations between endolymphatic hydrops (EH) grades or the degree of perilymphatic enhancement (PE) and clinical features of Ménière's disease (MD), as previous findings have been inconsistent. METHODS: A total of 273 consecutive patients with definite unilateral MD were retrospectively enrolled from September 2020 to October 2021. All patients underwent 3D-real IR and 3D-T2WI 6 h after intravenous gadolinium injection. MD-related symptom duration and vertigo frequency were recorded. EH grades were evaluated, the signal intensity ratio (SIR) was measured, and correlations between clinical features and EH, PE were assessed respectively. RESULTS: The study included 123 males and 150 females, with a mean age of 53.0 years. A longer duration of vertigo was associated with higher cochlear EH grades, whereas the opposite was true for the duration of aural fullness. A longer time since vertigo onset was associated with higher vestibular EH grades; the opposite was true for the duration of individual vertigo attacks. The multiple regression analysis revealed that age, tinnitus duration, and vestibular EH were risk factors for SIR. Furthermore, the low-frequency hearing threshold (HT) was a risk factor for cochlear and vestibular EH, and the SIR. CONCLUSION: The EH grade and SIR (an indicator for the quantitative evaluation of PE) were correlated with clinical features and HT of MD; thus, imaging can be a valuable tool in planning individualised treatment. CLINICAL RELEVANCE STATEMENT: This study revealed that the grade of endolymphatic hydrops and degree of perilymphatic enhancement positively correlates with the length of time since onset of clinical symptoms and hearing thresholds in patients with Ménière's disease, facilitating the tailored treatment. KEY POINTS: • Relationships between 3-dimensional real inversion recovery features and clinical symptoms in Ménière's disease are unknown. • Symptom duration and hearing thresholds correlated with endolymphatic hydrops grades and degree of perilymphatic enhancement. • MRI features correlate with MD severity; thus, imaging is valuable for planning tailored treatment.

Selective Capacitive Recovery of Rare-Earth Ions from Wastewater over Phosphorus-Modified TiO2 Cathodes via an Electro-Adsorption Process.

Large amounts of wastewater containing low-concentration (<10 ppm) rare-earth ions (REIs) are discharged annually in China's rare-earth mining and processing industry, resulting in severe environmental pollution and economic losses. Hence, achieving efficient selective recovery of low-concentration REIs from REIs-containing wastewater is essential for environmental protection and resource recovery. In this study, a pseudocapacitance system was designed for highly efficient capacitive selective recovery of REIs from wastewater using the titanium dioxide/P/C (TiO2/P/C) composite electrode, which exhibited over 99% recovery efficiency for REIs, such as Eu3+, Dy3+, Tb3+, and Lu3+ in mixed solution. This system maintained high efficiency and more than 90 times the enrichment concentration of REIs even after 100 cycles. Ti4+ of TiO2 was reduced to Ti3+ of Ti3O5 under forward voltage in the system, which trapped the electrons of phosphorus site and caused it to be oxidized to phosphate with a strong affinity for REIs, thus improving the selectivity of REIs. Under reverse voltage, Ti3O5 was oxidized to TiO2, which transferred electrons to phosphate and transformed to the phosphorus site, resulting in the desorption and enrichment of REIs and the regeneration of the electrode. This study provides a promising method for the efficient recovery of REIs from wastewater.

CircETV6 acts as an oncogenic driver in hepatocellular carcinoma progression.

Circular RNA (circRNA) plays important role in hepatocellular carcinoma (HCC) progression. However, the role and mechanism of circETV6 in HCC progression remain unclear. The levels of circETV6, ETV6, miR-383-5p, and PTPRE were tested by quantitative reverse-transcription polymerase chain reaction. Cell functions were assessed using the 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl-2H-tetrazolium bromide assay, 5-ethynyl-2'-deoxyuridine assay, colony formation assay, wound healing assay, transwell assay, and flow cytometry. The protein levels of poptosis-related markers and PTPRE were determined by western blot analysis. RNA interaction was analyzed by dual-luciferase reporter assay and RNA pull-down assay. A xenograft model was established to assess circETV6 roles in vivo. CircETV6 was highly expressed in HCC tissues and cells. CircETV6 knockdown repressed HCC cell proliferation, migration, invasion, and cell cycle, while accelerated apoptosis. CircETV6 targeted miR-383-5p, and miR-383-5p inhibition reversed the regulation of circETV6 knockdown on HCC cell progression. CircETV6 promoted PTPRE level via targeting miR-383-5p. Overexpressed PTPRE abolished the inhibition effect of miR-383-5p on HCC cell progression. In addition, circETV6 knockdown slowed HCC tumor growth in vivo. CircETV6 might facilitate HCC progression via the miR-383-5p/PTPRE axis, providing a novel target for HCC treatment.

LINC-p21 Regulates Pancreatic ß-Cell Function in Type 2 Diabetes Mellitus.

This study aimed to investigate the underlying mechanism and assess the biological role of long intergenic non-coding RNA (LINCRNA)-p21 in type 2 diabetes mellitus (T2DM). LINC-p21 and miR-335-3p expression levels were evaluated in blood from T2DM patients, healthy individuals, and mouse islet ß-cell line MIN6 cells grown in a high glucose environment. Apoptosis-related proteins, iNOS, and IGF-1 were detected in vitro and in vivo. Bioinformatics was used to predict that miR-335-3p had complementary binding sites to IGF-1, and a dual-luciferase reporter confirmed the targeting link between LINC-p21 and miR-335-3p. LINC-p21 was highly expressed in the T2DM serum and cells, and LINC-p21 was significantly associated with T2DM prognosis. In vitro and in vivo dysfunction of ß-cells was reduced by LINC-p21 knockdown. MiR-335-3p and IGF-1 may be potential targets of LINC-p21 and miR-335-3p, respectively, after the prediction of the target of LINC-p21 was verified by dual-luciferase assay. Anti-miR-335-3p made LINC-p21 knockdown function again; however, interference of IGF-1 mRNA restored the function of LINC-p21. The miR-335-3p/IGF-1 axis may have a role in the functional protection of pancreatic ß-cells by LINC-p21 silencing, boosting insulin production, and slowing the course of diabetes.

The Roles of Circular RNAs in Ischemic Stroke through Modulating Neuroinflammation.

Ischemic stroke (IS) remains a serious threat to human health. Neuroinflammatory response is an important pathophysiological process after IS. Circular RNAs (circRNAs), a member of the non-coding RNA family, are highly expressed in the central nervous system and widely involved in regulating physiological and pathophysiological processes. This study reviews the current evidence on neuroinflammatory responses, the role of circRNAs in IS and their potential mechanisms in regulating inflammatory cells, and inflammatory factors affecting IS damage. This review lays a foundation for future clinical application of circRNAs as novel biomarkers and therapeutic targets.

Selection on the promoter regions plays an important role in complex traits during duck domestication.

BACKGROUND: Identifying the key factors that underlie complex traits during domestication is a great challenge for evolutionary and biological studies. In addition to the protein-coding region differences caused by variants, a large number of variants are located in the noncoding regions containing multiple types of regulatory elements. However, the roles of accumulated variants in gene regulatory elements during duck domestication and economic trait improvement are poorly understood. RESULTS: We constructed a genomics, transcriptomics, and epigenomics map of the duck genome and assessed the evolutionary forces that have been in play across the whole genome during domestication. In total, 304 (42.94%) gene promoters have been specifically selected in Pekin duck among all selected genes. Joint multi-omics analysis reveals that 218 genes (72.01%) with selected promoters are located in open and active chromatin, and 267 genes (87.83%) with selected promoters were highly and differentially expressed in domestic trait-related tissues. One important candidate gene ELOVL3, with a strong signature of differentiation on the core promoter region, is known to regulate fatty acid elongation. Functional experiments showed that the nearly fixed variants in the top selected ELOVL3 promoter in Pekin duck decreased binding ability with HLF and increased gene expression, with the overexpression of ELOVL3 able to increase lipid deposition and unsaturated fatty acid enrichment. CONCLUSIONS: This study presents genome resequencing, RNA-Seq, Hi-C, and ATAC-Seq data of mallard and Pekin duck, showing that selection of the gene promoter region plays an important role in gene expression and phenotypic changes during domestication and highlights that the variants of the ELOVL3 promoter may have multiple effects on fat and long-chain fatty acid content in ducks.

Deep learning Radiomics Based on Two-Dimensional Ultrasound for Predicting the Efficacy of Neoadjuvant Chemotherapy in Breast Cancer.

We investigate the predictive value of a comprehensive model based on preoperative ultrasound radiomics, deep learning, and clinical features for pathological complete response (pCR) after neoadjuvant chemotherapy (NAC) for the breast cancer. We enrolled 155 patients with pathologically confirmed breast cancer who underwent NAC. The patients were randomly divided into the training set and the validation set in the ratio of 7:3. The deep learning and radiomics features of pre-treatment ultrasound images were extracted, and the random forest recursive elimination algorithm and the least absolute shrinkage and selection operator were used for feature screening and DL-Score and Rad-Score construction. According to multifactorial logistic regression, independent clinical predictors, DL-Score, and Rad-Score were selected to construct the comprehensive prediction model DLRC. The performance of the model was evaluated in terms of its predictive effect, and clinical practicability. Compared to the clinical, radiomics (Rad-Score), and deep learning (DL-Score) models, the DLRC accurately predicted the pCR status, with an area under the curve (AUC) of 0.937 (95%CI: 0.895-0.970) in the training set and 0.914 (95%CI: 0.838-0.973) in the validation set. Moreover, decision curve analysis confirmed that the DLRC had the highest clinical value among all models. The comprehensive model DLRC based on ultrasound radiomics, deep learning, and clinical features can effectively and accurately predict the pCR status of breast cancer after NAC, which is conducive to assisting clinical personalized diagnosis and treatment plan.

Quantifying Strain in Moiré Superlattice.

In twisted van der Waals (vdW) bilayers, intrinsic strain associated with the moiré superlattice and unintentionally introduced uniaxial strain may be present simultaneously. Both strains are able to lift the degeneracy of the E2g phonon modes in Raman spectra. Because of the different rotation symmetry of the two types of strain, the corresponding Raman intensity exhibits a distinct polarization dependence. We compare a 2.5° twisted MoS2 bilayer, in which the maximal intrinsic moiré strain is anticipated, and a natural MoS2 bilayer with an intentionally introduced uniaxial strain. By analyzing the frequency shift of the E2g doublet and their polarization dependence, we can not only determine the direction of unintentional uniaxial strain in the twisted bilayer but also quantify both strain components. This simple strain characterization method based on far-field Raman spectra will facilitate the studies of electronic properties of moiré superlattices under the influence of combined intrinsic and external strains.

Fermi Pressure and Coulomb Repulsion Driven Rapid Hot Plasma Expansion in a van der Waals Heterostructure.

Transition metal dichalcogenide heterostructures provide a versatile platform to explore electronic and excitonic phases. As the excitation density exceeds the critical Mott density, interlayer excitons are ionized into an electron-hole plasma phase. The transport of the highly non-equilibrium plasma is relevant for high-power optoelectronic devices but has not been carefully investigated previously. Here, we employ spatially resolved pump-probe microscopy to investigate the spatial-temporal dynamics of interlayer excitons and hot-plasma phase in a MoSe2/WSe2 twisted bilayer. At the excitation density of ∼1014 cm-2, well exceeding the Mott density, we find a surprisingly rapid initial expansion of hot plasma to a few microns away from the excitation source within ∼0.2 ps. Microscopic theory reveals that this rapid expansion is mainly driven by Fermi pressure and Coulomb repulsion, while the hot carrier effect has only a minor effect in the plasma phase.

Dietary sodium butyrate positively modulated intestinal microbial community, but did not promote growth of largemouth bass (Micropterus salmoides).

This study investigated the effects of dietary sodium butyrate (NaB) on growth, serum biochemical indices, intestine histology, and gut microbiota of largemouth bass (Micropterus salmoides). A basal diet was formulated and used as the control diet (Con), and five additional diets were prepared by supplementing NaB (50%) in the basal diet at 2.0, 4.0, 8.0, 12.0, and 16.0 g/kg inclusion (NaB-2, NaB-4, NaB-8, NaB-12, and NaB-16 diets). Then, the six diets were fed to triplicate groups of largemouth bass juveniles (2.4 ± 0.1 g) for 8 weeks. NaB supplementation linearly and quadratically affected weight gain (WG) and feed intake (FI) (P < 0.05). The NaB-16 group displayed lower WG (- 6.8%) and FI than the Con group (P < 0.05), while no differences were found in WG and feed conversion ratio between the other NaB groups and Con group (P > 0.05). Serum alkaline phosphatase and lysozyme activities were higher in the NaB groups (P < 0.05), and D-lactate content was lower in the NaB-12 group (P < 0.05) than the control. Intestinal lipase activity in NaB-2, NaB-4 group, and villi width in NaB-8 group were also higher than those in the Con group (P < 0.05). Compared to the Con group, the intestinal abundances of Firmicutes and Mycoplasma were increased and the abundances of Proteobacteria, Achromobacter and Plesiomonas were decreased in NaB-4 and NaB-16 groups (P < 0.05). In conclusion, dietary NaB did not promote the growth of juvenile largemouth bass, but positively modulated the intestinal microbial community.

[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].

OBJECTIVE: To analyze the clinical features and genetic characteristics of a patient with Shwachman-Diamond syndrome (SDS) due to compound heterozygous variants of SBDS gene. METHODS: A female child with SDS who was admitted to the Children's Hospital Affiliated to Zhengzhou University in February 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her elder sister and parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The child, a 1-year-and-1-month-old girl, had mainly manifested with diarrhea, hematochezia, growth retardation and malnutrition, along with increased transaminases and decreased neutrophils and hemoglobin. Anteroposterior X-ray of her left wrist indicated significantly delayed bone age. Colonoscopy revealed that her colorectal mucosa was erosive with oily food residues attached to the intestinal lumen. Genetic testing revealed that she has harbored c.258+2T>C and c.100A>G compound heterozygous variants of the SBDS gene. The c.258+2T>C variant has derived from her father and known to be pathogenic, whilst the other has derived from her mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.100A>G variant was classified as likely pathogenic (PM1+PM2_Supporting+PM3+PM5+PP3). CONCLUSION: The compound heterozygous variants of c.258+2T>C and c.100A>G probably underlay the SDS in this child. For children with refractory diarrhea, liver damage and growth retardation, SDS should be suspected, and genetic testing can facilitate the diagnosis and treatment.