Aqueous zinc-based batteries(ZBBs)are promising for grid-scale energy storage owing to their safety and cost-effectiveness;however,their practical application is hindered by rapid capacity fading and unstable cathodes...Aqueous zinc-based batteries(ZBBs)are promising for grid-scale energy storage owing to their safety and cost-effectiveness;however,their practical application is hindered by rapid capacity fading and unstable cathodes caused by sluggish Zn^(2+)kinetics and structural degradation in alkaline electrolytes.Herein,to address these challenges,we utilize amphiphilic polymer(PVP)to realize the composite of nickel-based complexes and ZIF-67.The hierarchical nickel-cobalt layered double hydroxide(NiCo-LDH)was prepared by metal ion exchange strategy.PVP-mediated-mediated suppression of agglomeration,combined with Ni^(2+)-induced framework reconstruction,synergistically modulated the morphology,resulting in mesoporous nanosheets with hydroxyl-rich surfaces.This design generated high-valence Co^(3+)species through charge-compensation-driven oxidation,thereby significantly accelerating Zn^(2+)ion diffusion and reducing the interfacial resistance.The optimized NiCo-LDH-100cathode(Ni:Co=3:1)achieves cycling stability and exceptional energy/power densities(0.49 mWh cm^(-2)/49.1 mW cm^(-2)).This study provides a solution for the cathode instability of Ni-Zn batteries through a coordination-derivatiz ation strategy,which is promising for advancing sustainable energy storage technologies.展开更多
Despite various treatment protocols and newly recognized therapeutics,there are no effective treatment approaches against coronavirus disease.New therapeutic strategies including the use of stem cells-derived secretom...Despite various treatment protocols and newly recognized therapeutics,there are no effective treatment approaches against coronavirus disease.New therapeutic strategies including the use of stem cells-derived secretome as a cell-free therapy have been recommended for patients with critical illness.The pro-regenerative,pro-angiogenic,anti-inflammatory,anti-apoptotic,immunomodulatory,and trophic properties of stem cells-derived secretome,extracellular vesicles(EVs),and bioactive factors have made them suitable candidates for respiratory tract regeneration in coronavirus disease 2019(COVID-19)patients.EVs including microvesicles and exosomes can be applied for communication at the intercellular level due to their abilities in the long-distance transfer of biological messages such as mRNAs,growth factors,transcription factors,microRNAs,and cytokines,and therefore,simulate the specifications of the parent cell,influencing target cells upon internalization and/or binding.EVs exhibit both anti-inflammatory and tolerogenic immune responses by regulation of proliferation,polarization,activation,and migration of different immune cells.Due to effective immunomodulatory and high safety including a minimum risk of immunogenicity and tumorigenicity,mesenchymal stem cell(MSC)-EVs are more preferable to MSC-based therapies.Thus,as an endogenous repair and inflammation-reducing agent,MSCEVs could be used against COVID-19 induced morbidity and mortality after further mechanistic and preclinical/clinical investigations.This review is focused on the therapeutic perspective of the secretome of stem cells in alleviating the cytokine storm and organ injury in COVID-19 patients.展开更多
Chronic ethanol consumption is associated with changes in the function and structure of the lungs. The aim of this study was to investigate the effect of chronic ethanol exposure on the lungs and whether ginger extrac...Chronic ethanol consumption is associated with changes in the function and structure of the lungs. The aim of this study was to investigate the effect of chronic ethanol exposure on the lungs and whether ginger extract mitigated pulmonary abnormalities induced by ethanol in rats. Male Wistar rats were divided into the control group, the ethanol group, and the ethanol plus ginger extract group. Six weeks of ethanol treatment increased the proliferation of lung cells, and induced fibrosis, inflammation and leukocyte infiltration. A significant rise in the level of 8-hydroxydeoxyguanosine, NADPH oxidase, and oxidized low-density lipoprotein was also observed. Ginger extract significantly ameliorated the above changes. These findings indicate that ethanol induces abnormalities in the lungs by oxidative DNA damage and oxidative stress, and that these effects can be alleviated by ginger, which may function as an antioxidant and anti-inflammatory agent.展开更多
BACKGROUND Mesenteric ischemia is significantly more common in end-stage kidney disease patients undergoing chronic dialysis than in the general population and is associated with high morbidity and mortality. However,...BACKGROUND Mesenteric ischemia is significantly more common in end-stage kidney disease patients undergoing chronic dialysis than in the general population and is associated with high morbidity and mortality. However, reports on prognostic factors in this population are limited.AIM To elucidate the in-hospital outcomes of acute mesenteric ischemia in chronic dialysis patients and to analyze protective factors for survival.METHODS The case data of 426 chronic dialysis patients who were hospitalized in a tertiary medical center for acute mesenteric ischemia over a 14-year period were retrospectively reviewed. Of these cases, 103 were surgically confirmed, and the patients were enrolled in this study. A Cox regression analysis was used to evaluate the protective factors for survival.RESULTS The in-hospital mortality rate among the 103 enrolled patients was 46.6%.Univariate analysis was performed to compare factors in survivors and nonsurvivors, with better in-hospital outcomes associated with a surgery delay(defined as the time from onset of signs and symptoms to operation) < 4.5 d, no shock, a higher potassium level on day 1 of hospitalization, no resection of the colon, and a total bowel resection length < 110 cm. After 1 wk of hospitalization, patients with lower white blood cell count and neutrophil counts, higher lymphocyte counts, and lower C-reactive protein levels had better in-hospital outcomes. Following multivariate adjustment, a higher potassium level on day 1 of hospitalization(HR 1.71, 95%CI 1.19 to 2.46;P = 0.004), a lower neutrophil count(HR 0.91, 95%CI 0.84 to 0.99;P = 0.037) at 1 wk after admission, resection not involving the colon(HR 2.70, 95%CI 1.05 to 7.14;P = 0.039), and a total bowel resection length < 110 cm(HR 4.55,95%CI 1.43 to 14.29;P = 0.010) were significantly associated with survival.CONCLUSION A surgery delay < 4.5 d, no shock, no resection of the colon, and a total bowel resection length <110 cm predicted better outcomes in chronic dialysis patients with acute mesenteric ischemia.展开更多
Anodic urea oxidation reaction(UOR)is an intriguing half reaction that can replace oxygen evolution reaction(OER)and work together with hydrogen evolution reaction(HER)toward simultaneous hydrogen fuel generation and ...Anodic urea oxidation reaction(UOR)is an intriguing half reaction that can replace oxygen evolution reaction(OER)and work together with hydrogen evolution reaction(HER)toward simultaneous hydrogen fuel generation and urea-rich wastewater purification;however,it remains a challenge to achieve overall urea electrolysis with high efficiency.Herein,we report a multifunctional electrocatalyst termed as Rh/Ni V-LDH,through integration of nickel-vanadium layered double hydroxide(LDH)with rhodium single-atom catalyst(SAC),to achieve this goal.The electrocatalyst delivers high HER mass activity of0.262 A mg^(-1) and exceptionally high turnover frequency(TOF)of 2.125 s^(-1) at an overpotential of100 m V.Moreover,exceptional activity toward urea oxidation is addressed,which requires a potential of 1.33 V to yield 10 mA cm^(-2),endorsing the potential to surmount the sluggish OER.The splendid catalytic activity is enabled by the synergy of the Ni V-LDH support and the atomically dispersed Rh sites(located on the Ni-V hollow sites)as evidenced both experimentally and theoretically.The selfsupported Rh/Ni V-LDH catalyst serving as the anode and cathode for overall urea electrolysis(1 mol L^(-1) KOH with 0.33 mol L^(-1) urea as electrolyte)only requires a small voltage of 1.47 V to deliver 100 mA cm^(-2) with excellent stability.This work provides important insights into multifunctional SAC design from the perspective of support sites toward overall electrolysis applications.展开更多
One in three Americans is at risk for developing chronic kidney disease （CKD） and end-stage renal disease （ESRD）, leading to the need for dialysis or a kidney transplant. Small-molecule drugs have been proposed as...One in three Americans is at risk for developing chronic kidney disease （CKD） and end-stage renal disease （ESRD）, leading to the need for dialysis or a kidney transplant. Small-molecule drugs have been proposed as therapies to manage kidney diseases, but high dosages are often required to achieve therapeutic efficacy, generating off-target side effects, some of which are lethal. To address these limitations, we developed a novel kidney-targeting multimodal micelle （KM） system for drug delivery applications. SpecificaU~ we incorporated the kidney-targeting peptide （Lysine-Lysine-Glutamic acid-Glutamic acid-Glutamic acid）3-Lysine） （（KKEEE）3K） into micelles. This peptide binds to megalin, a multi-ligand cell surface receptor present on renal tubule cells. When incubated with human kidney proximal tubule cells, KMs were found to be biocompatible in vitro. In vivo, KMs showed higher accumulation in the kidneys as compared to a non-targeted （NT） control upon intravenous injection in wild-type C57BL/6J mice. Histological evaluation showed no signs of tissue damage, while blood urea nitrogen （BUN） and creatinine levels were within normal ranges, validating the preservation of kidney health upon micelle administration. To our knowledge, this is the first utilization of （KKEEE）BK in a nanoparticle formulation, and our study offers strong evidence that this novel nanoparticle platform can be used as a candidate drug delivery carrier to direct therapeutics to diseased tissue in CKD.展开更多
Background Congenital anomalies of the kidneys and urinary tract(CAKUT)are the most common cause of prenatally diagnosed developmental malformation.This study aimed to assess the relationship between maternal diseases...Background Congenital anomalies of the kidneys and urinary tract(CAKUT)are the most common cause of prenatally diagnosed developmental malformation.This study aimed to assess the relationship between maternal diseases and CAKUT in offspring.Methods This retrospective study enrolled all pregnant women registered from January 2020 to December 2022 at one medical center.Medical information on maternal noncommunicable diseases,including obesity,hypertension,diabetes mellitus,kidney disease,hyperthyroidism,hypothyroidism,psychiatric disease,epilepsy,cancer,and autoimmune disease was collected.Based on the records of ultrasound scanning during the third trimester,the diagnosis was classified as isolated urinary tract dilation(UTD)or kidney anomalies.Multivariate logistic regression was performed to establish models to predict antenatal CAKUT.Results Among the 19,656 pregnant women,perinatal ultrasound detected suspicious CAKUT in 114(5.8/1000)fetuses,comprising 89 cases with isolated UTD and 25 cases with kidney anomalies.The risk of antenatal CAKUT was increased in the fetuses of mothers who experienced gestational diabetes,thyroid dysfunction,neuropsychiatric disease,anemia,ovarian and uterine disorders.A prediction model for isolated UTD was developed utilizing four confounding factors,namely gestational diabetes,gestational hypertension,maternal thyroid dysfunction,and hepatic disease.Similarly,a separate prediction model for kidney anomalies was established based on four distinct confounding factors,namely maternal thyroid dysfunction,gestational diabetes,disorders of ovarian/uterine,and kidney disease.Conclusions Isolated UTD and kidney anomalies were associated with different maternal diseases.The results may inform the clinical management of pregnancy and highlight potential differences in the genesis of various subtypes of CAKUT.展开更多
Background： Patients on hemodialysis have a high-mortality risk. Tiffs study analyzed factors associated with death in patients on maintenance hemodialysis （MHD）. While some studies used baseline data of MHD patien...Background： Patients on hemodialysis have a high-mortality risk. Tiffs study analyzed factors associated with death in patients on maintenance hemodialysis （MHD）. While some studies used baseline data of MHD patients, this study used the most recent data obtained from patients just prior to either a primary endpoint or the end of the study period to iliad the characteristics of patients preceding death.Methods： Participants were selected from 16 blood purification centers in China from January 2012 to December 2014, Patients＇ data were collected retrospectively. Based on survival status, the participants were divided into two groups： survival group and the death group. Logistic regression analysis was performed to determine/＇actors associated with all-cause mortality.展开更多
Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in childhood.The present study identified the possible genetic contributions to primary VUR in children...Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in childhood.The present study identified the possible genetic contributions to primary VUR in children.Methods Patients with primary VUR were enrolled and analysed based on a national multi-center registration network(Chinese Children Genetic Kidney Disease Database,CCGKDD)that covered 23 different provinces/regions in China from 2014 to 2019.Genetic causes were sought using whole-exome sequencing(WES)or targeted-exome sequencing.Results A total of 379 unrelated patients(male:female 219:160)with primary VUR were recruited.Sixty-four(16.9%)children had extrarenal manifestations,and 165(43.5%)patients showed the coexistence of other CAKUT phenotypes.Eighty-eight patient(23.2%)exhibited impaired renal function at their last visit,and 18 of them(20.5%)developed ESRD at the median age of 7.0(IQR 0.9–11.4)years.A monogenic cause was identified in 28 patients(7.39%).These genes included PAX2(n=4),TNXB(n=3),GATA3(n=3),SLIT2(n=3),ROBO2(n=2),TBX18(n=2),and the other 11 genes(one gene for each patient).There was a significant difference in the rate of gene mutations between patients with or without extrarenal complications(14.1%vs.6%,P=0.035).The frequency of genetic abnormality was not statistically significant based on the coexistence of another CAKUT(9.6%vs.5.6%,P=0.139,Chi-square test)and the grade of reflux(9.4%vs.6.7%,P=0.429).Kaplan–Meier survival curve showed that the presence of genetic mutations did affect renal survival(Log-rank test,P=0.01).PAX2 mutation carriers(HR 5.1,95%CI 1.3–20.0;P=0.02)and TNXB mutation carriers(HR 20.3,95%CI 2.4–168.7;P=0.01)were associated with increased risk of progression to ESRD.Conclusions PAX2,TNXB,GATA3 and SLIT2 were the main underlying monogenic causes and accounted for up to 46.4%of monogenic VUR.Extrarenal complications and renal function were significantly related to the findings of genetic factors in children with primary VUR.Like other types of CAKUT,several genes may be responsible for isolated VUR.展开更多
The full utilization of active metal sites is meaningful for enhancing the application of materials in the energy storage field.In this study,a nickel-based nanosphere(NiSA-SSA-Co)precursor was obtained via effective ...The full utilization of active metal sites is meaningful for enhancing the application of materials in the energy storage field.In this study,a nickel-based nanosphere(NiSA-SSA-Co)precursor was obtained via effective doping based on a dual-ligand complex.With thermal activation,the pore microstructure of the precursor was modulated,and a transition state complex(NiSA-SSA-Co-350)was fabricated.NiSA-SSA-Co-350 not only retains part of the framework structure,but also fully exposes the metal nodes and enhances the efficiency of the active sites.NiSA-SSA-Co-350 exhibits optimal conductivity and intrinsic reactivity when applied as an electrode material for nickel-zinc batteries(NZBs).In contrast to the precursor,NiSA-SSA-Co-350with large specific surface area shows a higher specific capacity(0.30 mAh cm^(-2)at 3 mA cm^(-2)).This work hopefully provides a new perspective on the study of nanomaterial porosity in energy storage applications.展开更多
Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration ...Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.展开更多
Background Steroid-sensitive nephrotic syndrome is a prevalent glomerular disease in children.The 2021 guidelines for glomerular disease management by Kidney Disease:Improving Global Outcomes and the 2023 recommendati...Background Steroid-sensitive nephrotic syndrome is a prevalent glomerular disease in children.The 2021 guidelines for glomerular disease management by Kidney Disease:Improving Global Outcomes and the 2023 recommendations for steroidsensitive nephrotic syndrome management by International Pediatric Nephrology Association recommend rituximab for frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome in children.However,there is considerable variation in rituximab application,including administration timing,dose,frequency,concomitant medications,and follow-up schedules.In addition,rituximab use for nephrotic syndrome remains off-label in most countries.Data sources The“Pediatric Nephrology Committee of the Chinese Medical Doctor Association”,the“Pediatric Nephrology Society of the Chinese Medical Association”,and the“Fudan University GRADE Center”collaborated to develop a clinical practice guideline for rituximab in pediatric steroid-sensitive nephrotic syndrome.Databases and starting/ending time for retrieval were as follows.Databases in English:PubMed,Embase,Cochrane,and Scopus;database in Chinese:Chinese Biomedical Literature Service provided by SinoMed.The publication dates were limited to those from 2004 to June 26,2022.Results Through systematic reviews and meta-analyses covering nine clinically relevant patient or population covered,intervention,comparator,and outcome questions,seven recommendations were formulated and formally graded according to these guidelines.Conclusions This guideline aspires to serve as a pivotal resource for healthcare providers,offering guidance on administration timing,dosage,frequency,concomitant medications,and follow-up protocols.展开更多
Background: The efficacy of hemodialysis (HD) is closely associated with patient survival time and quality of life. The classical method (CLM) to calculate the urea clearance index (Kt/V) and urea reduction rate (URR)...Background: The efficacy of hemodialysis (HD) is closely associated with patient survival time and quality of life. The classical method (CLM) to calculate the urea clearance index (Kt/V) and urea reduction rate (URR) requires multiple blood tests. A novel method that may be used as a noninvasive alternative to CLM is required.Methods: Based on the urea kinetic model, a new method, named the "assessment method" (ASM), was established to calculate blood urea nitrogen after HD, based on parameters obtained during HD. The consistency of the Kt/V and URR values between the ASM and CLM was evaluated in 41 patients from the China-Japan Friendship Hospital between September 2017 and December 2018.Results: Forty-one patients (24 males and 17 females;mean age, 55.7 ± 14.2 years) undergoing regular HD in our hospital were randomly selected for this study. The blood flow rate was 244.5 ± 19.6 mL/min and the dialysate flow rate was 500 mL/min. We obtained Kt/V (CLM = 1.40 ± 0.06, ASM = 1.37 ± 0.07) and URR (CLM = 68.6 ± 6.4%, ASM = 67.7 ± 7.2%) values. Pairedt-test indicated no significant differences between the ASM- and CLM-derived values. The intraclass correlation coefficients were 0.907 and 0.916 for Kt/V and URR, respectively. Similarly, Bland-Altman plots suggested good concordance between the 2 methods.Conclusions: The Kt/V and URR values calculated using the ASM and CLM were in significant agreement, and both can be used to effectively assess the adequacy of HD in patients undergoing maintenance HD. The ASM is an effective, rapid, inexpensive, and noninvasive alternative to the CLM for obtaining Kt/V and URR values. The ASM has good potential for clinical application, particularly for patients in areas of low socioeconomic status.展开更多
Objective:To compare the seropositivity of Toxoplasma gondii in a group of peritoneal dialysis patients with hemodialysis patients and a general local population as a control group in Tabriz,Northwest Iran.Methods:A t...Objective:To compare the seropositivity of Toxoplasma gondii in a group of peritoneal dialysis patients with hemodialysis patients and a general local population as a control group in Tabriz,Northwest Iran.Methods:A total of 176 individuals were participated in the present study.Among them,42 were peritoneal dialysis patients,84 were hemodialysis patients and 50 were healthy volunteers.Anti-Toxoplasma immunoglobulin G and immunoglobulin M serologic study was administered on the collected serums and then the obtained data were analyzed using statistical methods.Results:In the present research,70.2%of hemodialysis patients,66.6%of peritoneal dialysis patients and 68%of control group had positive results for anti-Toxoplasma immunoglobulin G antibody.All individuals of the groups had negative serologic results for anti-Toxoplasma immunoglobulin M antibody.There was no significant difference between Toxoplasma gondii seropositivity in hemodialysis patients and peritoneal dialysis patients and general population(P>0.05).Conclusions:The findings showed that either peritoneal dialysis or hemodialysis doesn’t increase the risk of Toxoplasma seropositivity in our region(Northwest Iran).It could be explained by the fact that the present research is carried out in a high seroprevalent area scale in which the majority of normal population had previous exposure to this parasitical infection.展开更多
Lighvan cheese(Lighvan panir)is among the most famous traditional cheese in Iran for its desired aroma and flavor.Undoubtedly,the lactic acid bacteria especially the genus Lactobacillus are the critical factors in dev...Lighvan cheese(Lighvan panir)is among the most famous traditional cheese in Iran for its desired aroma and flavor.Undoubtedly,the lactic acid bacteria especially the genus Lactobacillus are the critical factors in developing the aroma,flavor,and texture in Lighvan cheese.In this study,the Lactobacillus population of the main Lighvan cheese was investigated.The Lactobacillus of the main Lighvan cheese was isolated using specific culture methods according to previously published Guidelines.Then,the phylogenetic features were investigated and the phenotypic characteristics were examined using specific culture methods.Twenty-eight Gram-positive bacterial species were identified belonged to the genus Lactobacillus.According to the same sequences as each other,three groups(A,B,and C)of isolates were categorized with a high degree of similarity to L.fermentum(100%)and L.casei group(L.casei,L.paracasei,and L.rhamnosus)(99.0 to 100%).Random amplified polymorphic DNA(RAPD)fingerprint analysis manifested the presence of three clusters that were dominant in traditional Lighvan cheese.ClusterІwas divided into 4 sub-clusters.By the result of carbohydrate fermentation pattern and 16S rRNA sequencing,isolates were identified as L.rhamnosus.The isolates in clusters II and III represented L.paracasei and L.fermentum,respectively as they were identified by 16S rRNA sequencing and fermented carbohydrate patterns.Our result indicated that the specific aroma and flavor of traditional Lighvan cheese can be related to its Lactobacillus population including L.fermentum,L.casei,L.paracasei,and L.rhamnosus.展开更多
Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of S...Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of SPLIS patients.Methods A literature search was performed in PubMed,Web of Science,and Scopus databases,and eligible studies were included.For all patients,demographic,clinical,laboratory,and molecular data were collected and analyzed.Results Fifty-five SPLIS patients(54.9%male,45.1%female)were identified in 19 articles.Parental consanguinity and positive family history were reported in 70.9%and 52.7%of patients,respectively.Most patients(54.9%)primarily manifested within the first year of life,nearly half of whom survived,while all patients with a prenatal diagnosis of SPLIS(27.5%)died at a median[interquartile(IQR)]age of 2(1.4–5.3)months(P=0.003).The most prevalent clinical feature was endocrinopathies,including primary adrenal insufficiency(PAI)(71.2%)and hypothyroidism(32.7%).Kidney disorders(42,80.8%)were mainly in the form of steroid-resistant nephrotic syndrome(SRNS)and progressed to end-stage kidney disease(ESKD)in 19(36.5%)patients at a median(IQR)age of 6(1.4–42.6)months.Among 30 different mutations in SGPL1,the most common was c.665G>A(p.Arg222Gln)in 11(20%)patients.Twenty-six(49.1%)patients with available outcome were deceased at a median(IQR)age of 5(1.5–30.5)months,mostly following ESKD(23%)or sepsis/septic shock(23%).Conclusion In patients with PAI and/or SRNS,SGPL1 should be added to diagnostic genetic panels,which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.展开更多
基金financially supported by the National Natural Science Foundation of China(No.52371240)
文摘Aqueous zinc-based batteries(ZBBs)are promising for grid-scale energy storage owing to their safety and cost-effectiveness;however,their practical application is hindered by rapid capacity fading and unstable cathodes caused by sluggish Zn^(2+)kinetics and structural degradation in alkaline electrolytes.Herein,to address these challenges,we utilize amphiphilic polymer(PVP)to realize the composite of nickel-based complexes and ZIF-67.The hierarchical nickel-cobalt layered double hydroxide(NiCo-LDH)was prepared by metal ion exchange strategy.PVP-mediated-mediated suppression of agglomeration,combined with Ni^(2+)-induced framework reconstruction,synergistically modulated the morphology,resulting in mesoporous nanosheets with hydroxyl-rich surfaces.This design generated high-valence Co^(3+)species through charge-compensation-driven oxidation,thereby significantly accelerating Zn^(2+)ion diffusion and reducing the interfacial resistance.The optimized NiCo-LDH-100cathode(Ni:Co=3:1)achieves cycling stability and exceptional energy/power densities(0.49 mWh cm^(-2)/49.1 mW cm^(-2)).This study provides a solution for the cathode instability of Ni-Zn batteries through a coordination-derivatiz ation strategy,which is promising for advancing sustainable energy storage technologies.
文摘Despite various treatment protocols and newly recognized therapeutics,there are no effective treatment approaches against coronavirus disease.New therapeutic strategies including the use of stem cells-derived secretome as a cell-free therapy have been recommended for patients with critical illness.The pro-regenerative,pro-angiogenic,anti-inflammatory,anti-apoptotic,immunomodulatory,and trophic properties of stem cells-derived secretome,extracellular vesicles(EVs),and bioactive factors have made them suitable candidates for respiratory tract regeneration in coronavirus disease 2019(COVID-19)patients.EVs including microvesicles and exosomes can be applied for communication at the intercellular level due to their abilities in the long-distance transfer of biological messages such as mRNAs,growth factors,transcription factors,microRNAs,and cytokines,and therefore,simulate the specifications of the parent cell,influencing target cells upon internalization and/or binding.EVs exhibit both anti-inflammatory and tolerogenic immune responses by regulation of proliferation,polarization,activation,and migration of different immune cells.Due to effective immunomodulatory and high safety including a minimum risk of immunogenicity and tumorigenicity,mesenchymal stem cell(MSC)-EVs are more preferable to MSC-based therapies.Thus,as an endogenous repair and inflammation-reducing agent,MSCEVs could be used against COVID-19 induced morbidity and mortality after further mechanistic and preclinical/clinical investigations.This review is focused on the therapeutic perspective of the secretome of stem cells in alleviating the cytokine storm and organ injury in COVID-19 patients.
文摘Chronic ethanol consumption is associated with changes in the function and structure of the lungs. The aim of this study was to investigate the effect of chronic ethanol exposure on the lungs and whether ginger extract mitigated pulmonary abnormalities induced by ethanol in rats. Male Wistar rats were divided into the control group, the ethanol group, and the ethanol plus ginger extract group. Six weeks of ethanol treatment increased the proliferation of lung cells, and induced fibrosis, inflammation and leukocyte infiltration. A significant rise in the level of 8-hydroxydeoxyguanosine, NADPH oxidase, and oxidized low-density lipoprotein was also observed. Ginger extract significantly ameliorated the above changes. These findings indicate that ethanol induces abnormalities in the lungs by oxidative DNA damage and oxidative stress, and that these effects can be alleviated by ginger, which may function as an antioxidant and anti-inflammatory agent.
基金Supported by Linkou Chang Gung Memorial Hospital,No. CMRPG1K0141 and CMRPG1J0033。
文摘BACKGROUND Mesenteric ischemia is significantly more common in end-stage kidney disease patients undergoing chronic dialysis than in the general population and is associated with high morbidity and mortality. However, reports on prognostic factors in this population are limited.AIM To elucidate the in-hospital outcomes of acute mesenteric ischemia in chronic dialysis patients and to analyze protective factors for survival.METHODS The case data of 426 chronic dialysis patients who were hospitalized in a tertiary medical center for acute mesenteric ischemia over a 14-year period were retrospectively reviewed. Of these cases, 103 were surgically confirmed, and the patients were enrolled in this study. A Cox regression analysis was used to evaluate the protective factors for survival.RESULTS The in-hospital mortality rate among the 103 enrolled patients was 46.6%.Univariate analysis was performed to compare factors in survivors and nonsurvivors, with better in-hospital outcomes associated with a surgery delay(defined as the time from onset of signs and symptoms to operation) < 4.5 d, no shock, a higher potassium level on day 1 of hospitalization, no resection of the colon, and a total bowel resection length < 110 cm. After 1 wk of hospitalization, patients with lower white blood cell count and neutrophil counts, higher lymphocyte counts, and lower C-reactive protein levels had better in-hospital outcomes. Following multivariate adjustment, a higher potassium level on day 1 of hospitalization(HR 1.71, 95%CI 1.19 to 2.46;P = 0.004), a lower neutrophil count(HR 0.91, 95%CI 0.84 to 0.99;P = 0.037) at 1 wk after admission, resection not involving the colon(HR 2.70, 95%CI 1.05 to 7.14;P = 0.039), and a total bowel resection length < 110 cm(HR 4.55,95%CI 1.43 to 14.29;P = 0.010) were significantly associated with survival.CONCLUSION A surgery delay < 4.5 d, no shock, no resection of the colon, and a total bowel resection length <110 cm predicted better outcomes in chronic dialysis patients with acute mesenteric ischemia.
基金finically supported by the National Key R&D Program of China(2017YFE0120500)the National Natural Science Foundation of China(51972129,51702150,and 21725102)+2 种基金the Key Research and Development Program of Hubei(2020BAB079)Bintuan Science and Technology Program(2020DB002,and 2022DB009)the Science and Technology Innovation Committee Foundation of Shenzhen(JCYJ20210324141613032 and JCYJ20190809142019365)。
文摘Anodic urea oxidation reaction(UOR)is an intriguing half reaction that can replace oxygen evolution reaction(OER)and work together with hydrogen evolution reaction(HER)toward simultaneous hydrogen fuel generation and urea-rich wastewater purification;however,it remains a challenge to achieve overall urea electrolysis with high efficiency.Herein,we report a multifunctional electrocatalyst termed as Rh/Ni V-LDH,through integration of nickel-vanadium layered double hydroxide(LDH)with rhodium single-atom catalyst(SAC),to achieve this goal.The electrocatalyst delivers high HER mass activity of0.262 A mg^(-1) and exceptionally high turnover frequency(TOF)of 2.125 s^(-1) at an overpotential of100 m V.Moreover,exceptional activity toward urea oxidation is addressed,which requires a potential of 1.33 V to yield 10 mA cm^(-2),endorsing the potential to surmount the sluggish OER.The splendid catalytic activity is enabled by the synergy of the Ni V-LDH support and the atomically dispersed Rh sites(located on the Ni-V hollow sites)as evidenced both experimentally and theoretically.The selfsupported Rh/Ni V-LDH catalyst serving as the anode and cathode for overall urea electrolysis(1 mol L^(-1) KOH with 0.33 mol L^(-1) urea as electrolyte)only requires a small voltage of 1.47 V to deliver 100 mA cm^(-2) with excellent stability.This work provides important insights into multifunctional SAC design from the perspective of support sites toward overall electrolysis applications.
文摘One in three Americans is at risk for developing chronic kidney disease （CKD） and end-stage renal disease （ESRD）, leading to the need for dialysis or a kidney transplant. Small-molecule drugs have been proposed as therapies to manage kidney diseases, but high dosages are often required to achieve therapeutic efficacy, generating off-target side effects, some of which are lethal. To address these limitations, we developed a novel kidney-targeting multimodal micelle （KM） system for drug delivery applications. SpecificaU~ we incorporated the kidney-targeting peptide （Lysine-Lysine-Glutamic acid-Glutamic acid-Glutamic acid）3-Lysine） （（KKEEE）3K） into micelles. This peptide binds to megalin, a multi-ligand cell surface receptor present on renal tubule cells. When incubated with human kidney proximal tubule cells, KMs were found to be biocompatible in vitro. In vivo, KMs showed higher accumulation in the kidneys as compared to a non-targeted （NT） control upon intravenous injection in wild-type C57BL/6J mice. Histological evaluation showed no signs of tissue damage, while blood urea nitrogen （BUN） and creatinine levels were within normal ranges, validating the preservation of kidney health upon micelle administration. To our knowledge, this is the first utilization of （KKEEE）BK in a nanoparticle formulation, and our study offers strong evidence that this novel nanoparticle platform can be used as a candidate drug delivery carrier to direct therapeutics to diseased tissue in CKD.
基金supported by the National Key Research and Development Program of China(2021YFC2701101,to RJ)the Program of Shanghai Academic/Technology Research(23141900700,to RJ).
文摘Background Congenital anomalies of the kidneys and urinary tract(CAKUT)are the most common cause of prenatally diagnosed developmental malformation.This study aimed to assess the relationship between maternal diseases and CAKUT in offspring.Methods This retrospective study enrolled all pregnant women registered from January 2020 to December 2022 at one medical center.Medical information on maternal noncommunicable diseases,including obesity,hypertension,diabetes mellitus,kidney disease,hyperthyroidism,hypothyroidism,psychiatric disease,epilepsy,cancer,and autoimmune disease was collected.Based on the records of ultrasound scanning during the third trimester,the diagnosis was classified as isolated urinary tract dilation(UTD)or kidney anomalies.Multivariate logistic regression was performed to establish models to predict antenatal CAKUT.Results Among the 19,656 pregnant women,perinatal ultrasound detected suspicious CAKUT in 114(5.8/1000)fetuses,comprising 89 cases with isolated UTD and 25 cases with kidney anomalies.The risk of antenatal CAKUT was increased in the fetuses of mothers who experienced gestational diabetes,thyroid dysfunction,neuropsychiatric disease,anemia,ovarian and uterine disorders.A prediction model for isolated UTD was developed utilizing four confounding factors,namely gestational diabetes,gestational hypertension,maternal thyroid dysfunction,and hepatic disease.Similarly,a separate prediction model for kidney anomalies was established based on four distinct confounding factors,namely maternal thyroid dysfunction,gestational diabetes,disorders of ovarian/uterine,and kidney disease.Conclusions Isolated UTD and kidney anomalies were associated with different maternal diseases.The results may inform the clinical management of pregnancy and highlight potential differences in the genesis of various subtypes of CAKUT.
文摘Background： Patients on hemodialysis have a high-mortality risk. Tiffs study analyzed factors associated with death in patients on maintenance hemodialysis （MHD）. While some studies used baseline data of MHD patients, this study used the most recent data obtained from patients just prior to either a primary endpoint or the end of the study period to iliad the characteristics of patients preceding death.Methods： Participants were selected from 16 blood purification centers in China from January 2012 to December 2014, Patients＇ data were collected retrospectively. Based on survival status, the participants were divided into two groups： survival group and the death group. Logistic regression analysis was performed to determine/＇actors associated with all-cause mortality.
基金This work was supported by the Grant NSFC-81800602 from National Natural Science Foundation of China(Dr.Jia-Lu Liu)the Grant 20184Y0176 from Shanghai Municipal Commission of Health and Family Planning Youth Research Program(Dr.Jia-Lu Liu)+2 种基金the Grant SHDC12016107 from Shanghai Shenkang Hospital Developmental Center(Dr.Hong Xu)the Grant NSFC-81670609 from National Natural Science Foundation of China(Dr.Hong Xu)the Grant 2018YFA0801102 from National Key Research and Development Project(Dr.Hong Xu).
文摘Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in childhood.The present study identified the possible genetic contributions to primary VUR in children.Methods Patients with primary VUR were enrolled and analysed based on a national multi-center registration network(Chinese Children Genetic Kidney Disease Database,CCGKDD)that covered 23 different provinces/regions in China from 2014 to 2019.Genetic causes were sought using whole-exome sequencing(WES)or targeted-exome sequencing.Results A total of 379 unrelated patients(male:female 219:160)with primary VUR were recruited.Sixty-four(16.9%)children had extrarenal manifestations,and 165(43.5%)patients showed the coexistence of other CAKUT phenotypes.Eighty-eight patient(23.2%)exhibited impaired renal function at their last visit,and 18 of them(20.5%)developed ESRD at the median age of 7.0(IQR 0.9–11.4)years.A monogenic cause was identified in 28 patients(7.39%).These genes included PAX2(n=4),TNXB(n=3),GATA3(n=3),SLIT2(n=3),ROBO2(n=2),TBX18(n=2),and the other 11 genes(one gene for each patient).There was a significant difference in the rate of gene mutations between patients with or without extrarenal complications(14.1%vs.6%,P=0.035).The frequency of genetic abnormality was not statistically significant based on the coexistence of another CAKUT(9.6%vs.5.6%,P=0.139,Chi-square test)and the grade of reflux(9.4%vs.6.7%,P=0.429).Kaplan–Meier survival curve showed that the presence of genetic mutations did affect renal survival(Log-rank test,P=0.01).PAX2 mutation carriers(HR 5.1,95%CI 1.3–20.0;P=0.02)and TNXB mutation carriers(HR 20.3,95%CI 2.4–168.7;P=0.01)were associated with increased risk of progression to ESRD.Conclusions PAX2,TNXB,GATA3 and SLIT2 were the main underlying monogenic causes and accounted for up to 46.4%of monogenic VUR.Extrarenal complications and renal function were significantly related to the findings of genetic factors in children with primary VUR.Like other types of CAKUT,several genes may be responsible for isolated VUR.
基金supported by the National Natural Science Foundation of China(52371240)the Postgraduate Research&Practice Innovation Program of Jiangsu Province(KYCX23_3511)。
文摘The full utilization of active metal sites is meaningful for enhancing the application of materials in the energy storage field.In this study,a nickel-based nanosphere(NiSA-SSA-Co)precursor was obtained via effective doping based on a dual-ligand complex.With thermal activation,the pore microstructure of the precursor was modulated,and a transition state complex(NiSA-SSA-Co-350)was fabricated.NiSA-SSA-Co-350 not only retains part of the framework structure,but also fully exposes the metal nodes and enhances the efficiency of the active sites.NiSA-SSA-Co-350 exhibits optimal conductivity and intrinsic reactivity when applied as an electrode material for nickel-zinc batteries(NZBs).In contrast to the precursor,NiSA-SSA-Co-350with large specific surface area shows a higher specific capacity(0.30 mAh cm^(-2)at 3 mA cm^(-2)).This work hopefully provides a new perspective on the study of nanomaterial porosity in energy storage applications.
基金J.R.is supported by National Natural Science Foundation of China(NSFC-8182207)Shanghai Academic/Technology Research Leader(19XD1420600)Chinese Academy of Medical Sciences(2019-RC-HL_020).
文摘Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.
文摘Background Steroid-sensitive nephrotic syndrome is a prevalent glomerular disease in children.The 2021 guidelines for glomerular disease management by Kidney Disease:Improving Global Outcomes and the 2023 recommendations for steroidsensitive nephrotic syndrome management by International Pediatric Nephrology Association recommend rituximab for frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome in children.However,there is considerable variation in rituximab application,including administration timing,dose,frequency,concomitant medications,and follow-up schedules.In addition,rituximab use for nephrotic syndrome remains off-label in most countries.Data sources The“Pediatric Nephrology Committee of the Chinese Medical Doctor Association”,the“Pediatric Nephrology Society of the Chinese Medical Association”,and the“Fudan University GRADE Center”collaborated to develop a clinical practice guideline for rituximab in pediatric steroid-sensitive nephrotic syndrome.Databases and starting/ending time for retrieval were as follows.Databases in English:PubMed,Embase,Cochrane,and Scopus;database in Chinese:Chinese Biomedical Literature Service provided by SinoMed.The publication dates were limited to those from 2004 to June 26,2022.Results Through systematic reviews and meta-analyses covering nine clinically relevant patient or population covered,intervention,comparator,and outcome questions,seven recommendations were formulated and formally graded according to these guidelines.Conclusions This guideline aspires to serve as a pivotal resource for healthcare providers,offering guidance on administration timing,dosage,frequency,concomitant medications,and follow-up protocols.
基金Trans- verse Research Project of China-Japan Friendship Hospital(No: 2017-HX-9)。
文摘Background: The efficacy of hemodialysis (HD) is closely associated with patient survival time and quality of life. The classical method (CLM) to calculate the urea clearance index (Kt/V) and urea reduction rate (URR) requires multiple blood tests. A novel method that may be used as a noninvasive alternative to CLM is required.Methods: Based on the urea kinetic model, a new method, named the "assessment method" (ASM), was established to calculate blood urea nitrogen after HD, based on parameters obtained during HD. The consistency of the Kt/V and URR values between the ASM and CLM was evaluated in 41 patients from the China-Japan Friendship Hospital between September 2017 and December 2018.Results: Forty-one patients (24 males and 17 females;mean age, 55.7 ± 14.2 years) undergoing regular HD in our hospital were randomly selected for this study. The blood flow rate was 244.5 ± 19.6 mL/min and the dialysate flow rate was 500 mL/min. We obtained Kt/V (CLM = 1.40 ± 0.06, ASM = 1.37 ± 0.07) and URR (CLM = 68.6 ± 6.4%, ASM = 67.7 ± 7.2%) values. Pairedt-test indicated no significant differences between the ASM- and CLM-derived values. The intraclass correlation coefficients were 0.907 and 0.916 for Kt/V and URR, respectively. Similarly, Bland-Altman plots suggested good concordance between the 2 methods.Conclusions: The Kt/V and URR values calculated using the ASM and CLM were in significant agreement, and both can be used to effectively assess the adequacy of HD in patients undergoing maintenance HD. The ASM is an effective, rapid, inexpensive, and noninvasive alternative to the CLM for obtaining Kt/V and URR values. The ASM has good potential for clinical application, particularly for patients in areas of low socioeconomic status.
基金Supported by Student’s Research Committee of Tabriz University of Medical Sciences(Project No.92-11-45).
文摘Objective:To compare the seropositivity of Toxoplasma gondii in a group of peritoneal dialysis patients with hemodialysis patients and a general local population as a control group in Tabriz,Northwest Iran.Methods:A total of 176 individuals were participated in the present study.Among them,42 were peritoneal dialysis patients,84 were hemodialysis patients and 50 were healthy volunteers.Anti-Toxoplasma immunoglobulin G and immunoglobulin M serologic study was administered on the collected serums and then the obtained data were analyzed using statistical methods.Results:In the present research,70.2%of hemodialysis patients,66.6%of peritoneal dialysis patients and 68%of control group had positive results for anti-Toxoplasma immunoglobulin G antibody.All individuals of the groups had negative serologic results for anti-Toxoplasma immunoglobulin M antibody.There was no significant difference between Toxoplasma gondii seropositivity in hemodialysis patients and peritoneal dialysis patients and general population(P>0.05).Conclusions:The findings showed that either peritoneal dialysis or hemodialysis doesn’t increase the risk of Toxoplasma seropositivity in our region(Northwest Iran).It could be explained by the fact that the present research is carried out in a high seroprevalent area scale in which the majority of normal population had previous exposure to this parasitical infection.
基金supported and funded scheme by the Molecular Medicine Research Center,Biomedicine Institute,Tabriz University of Medical Sciences,Tabriz,Iran.
文摘Lighvan cheese(Lighvan panir)is among the most famous traditional cheese in Iran for its desired aroma and flavor.Undoubtedly,the lactic acid bacteria especially the genus Lactobacillus are the critical factors in developing the aroma,flavor,and texture in Lighvan cheese.In this study,the Lactobacillus population of the main Lighvan cheese was investigated.The Lactobacillus of the main Lighvan cheese was isolated using specific culture methods according to previously published Guidelines.Then,the phylogenetic features were investigated and the phenotypic characteristics were examined using specific culture methods.Twenty-eight Gram-positive bacterial species were identified belonged to the genus Lactobacillus.According to the same sequences as each other,three groups(A,B,and C)of isolates were categorized with a high degree of similarity to L.fermentum(100%)and L.casei group(L.casei,L.paracasei,and L.rhamnosus)(99.0 to 100%).Random amplified polymorphic DNA(RAPD)fingerprint analysis manifested the presence of three clusters that were dominant in traditional Lighvan cheese.ClusterІwas divided into 4 sub-clusters.By the result of carbohydrate fermentation pattern and 16S rRNA sequencing,isolates were identified as L.rhamnosus.The isolates in clusters II and III represented L.paracasei and L.fermentum,respectively as they were identified by 16S rRNA sequencing and fermented carbohydrate patterns.Our result indicated that the specific aroma and flavor of traditional Lighvan cheese can be related to its Lactobacillus population including L.fermentum,L.casei,L.paracasei,and L.rhamnosus.
文摘Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of SPLIS patients.Methods A literature search was performed in PubMed,Web of Science,and Scopus databases,and eligible studies were included.For all patients,demographic,clinical,laboratory,and molecular data were collected and analyzed.Results Fifty-five SPLIS patients(54.9%male,45.1%female)were identified in 19 articles.Parental consanguinity and positive family history were reported in 70.9%and 52.7%of patients,respectively.Most patients(54.9%)primarily manifested within the first year of life,nearly half of whom survived,while all patients with a prenatal diagnosis of SPLIS(27.5%)died at a median[interquartile(IQR)]age of 2(1.4–5.3)months(P=0.003).The most prevalent clinical feature was endocrinopathies,including primary adrenal insufficiency(PAI)(71.2%)and hypothyroidism(32.7%).Kidney disorders(42,80.8%)were mainly in the form of steroid-resistant nephrotic syndrome(SRNS)and progressed to end-stage kidney disease(ESKD)in 19(36.5%)patients at a median(IQR)age of 6(1.4–42.6)months.Among 30 different mutations in SGPL1,the most common was c.665G>A(p.Arg222Gln)in 11(20%)patients.Twenty-six(49.1%)patients with available outcome were deceased at a median(IQR)age of 5(1.5–30.5)months,mostly following ESKD(23%)or sepsis/septic shock(23%).Conclusion In patients with PAI and/or SRNS,SGPL1 should be added to diagnostic genetic panels,which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.
