BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of life.Patients often enter remission within several months,although relapse can oc...BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of life.Patients often enter remission within several months,although relapse can occur later in life.Mutations in the ABCC8 gene,which encodes the sulfonylurea receptor 1 of the ATP-sensitive potassium channel in pancreatic beta cells,are associated with TNDM and permanent neonatal diabetes.This study describes a novel de novo c.3880C>T heterozygous ABCC8 variant that causes TNDM and can be treated with sulfonylurea therapy.CASE SUMMARY We retrospectively analyzed 2 Chinese patients with TNDM who were diagnosed,treated,or referred for follow-up between September 2017 and September 2023.The patients were tested for mutations using targeted next-generation sequencing.Patients with neonatal diabetes mellitus caused by a c.3880C>T heterozygous missense variant in the ABCC8 gene have not been reported before.Both children had an onset of post-infectious diabetic ketoacidosis,which is worth noting.At a follow-up visit after discontinuing insulin injection,oral glyburide was found to be effective with no adverse reactions.CONCLUSION Early genetic testing of neonatal diabetes mellitus aids in accurate diagnosis and treatment and helps avoid daily insulin injections that may cause pain.展开更多
Chronic inflammation,through a variety of mechanisms,plays a key role in the occurrence and development of digestive system malignant tumors(DSMTs).In this study,we feature and provide a comprehensive understanding of...Chronic inflammation,through a variety of mechanisms,plays a key role in the occurrence and development of digestive system malignant tumors(DSMTs).In this study,we feature and provide a comprehensive understanding of DSMT prevention strategies based on preventing or controlling chronic inflammation.The development and evaluation of cancer prevention strategies is a longstanding process.Cancer prevention,especially in the early stage of life,should be emphasized throughout the whole life course.Issues such as the time interval for colon cancer screening,the development of direct-acting antiviral drugs for liver cancer,and the Helicobacter pylori vaccine all need to be explored in long-term,large-scale experiments in the future.展开更多
To the Editor,Blau syndrome(BS)is a rare autosomal dominant disorder that occurs early in childhood.It is caused by mutations in nucleotide-binding oligomerization domain-containing protein 2(NOD2),also known as caspa...To the Editor,Blau syndrome(BS)is a rare autosomal dominant disorder that occurs early in childhood.It is caused by mutations in nucleotide-binding oligomerization domain-containing protein 2(NOD2),also known as caspase activation and recruitment domain 15(CARD15).NOD2 mutations result in the activation of nuclear factor-kappa B and induction inflammation.1 Some patients develop the disease in a familial manner,but sporadic cases can occur.The main clinical manifestations of BS are the triad of rash,arthritis,and iridocyclitis,while multiple aortitis,deafness,heart disease,liver,spleen,and central nervous system are also involved.2 The disease was first described by Dr.Blau in 1985.展开更多
Neuroinflammation is implicated in the pathophysiology of depression. The reduction of hippocampal volume indepression remains controversial because of interindividual variability in clinical studies. Herein, we studi...Neuroinflammation is implicated in the pathophysiology of depression. The reduction of hippocampal volume indepression remains controversial because of interindividual variability in clinical studies. Herein, we studied theeffects of clomipramine, a tricyclic antidepressant (TCA) that modulates serotonin and norepinephrine uptake, onchronic mild unpredictable stress (CMS) induced depressive-like behaviors, hippocampal neuroinflammation, and hippocampal volume. Using a rat model of CMS induced depression, we administered clomipramine every day for4 weeks, starting 8 weeks after the beginning of the CMS procedure. Behavioral changes were measured by forcedswim test, open field test, and elevated plus maze. Neuroinflammation in the hippocampus was assessed byimmunohistochemistry, Western blot analysis, and quantitative polymerase chain reaction. Hippocampal volumeswere dynamically measured using T2- weighted imaging with 7T structural magnetic resonance imaging.展开更多
Neuroinflammation is implicated in the pathophysiology of depression.The reduction of hippocampal volume in depression remains controversial because of interindividual variability in clinical studies.Herein,we studied...Neuroinflammation is implicated in the pathophysiology of depression.The reduction of hippocampal volume in depression remains controversial because of interindividual variability in clinical studies.Herein,we studied the effects of clomipramine,a tricyclic antidepressant(TCA)that modulates serotonin and norepinephrine uptake,on chronic mild unpredictable stress(CMS)-induced depressive-like behaviors,hippocampal neuroinflammation,and hippocampal volume.展开更多
Importance:Dexmedetomidine inhibits the inflammatory response associated with cardiopulmonary bypass(CPB)and protects neural function.However,the mechanism of dexmedetomidine’s anti-inflammatory pathway is unclear.Ob...Importance:Dexmedetomidine inhibits the inflammatory response associated with cardiopulmonary bypass(CPB)and protects neural function.However,the mechanism of dexmedetomidine’s anti-inflammatory pathway is unclear.Objective:To investigate the effect of dexmedetomidine on the cognitive level and expression of inflammatory factors in children with congenital heart disease undergoing intraoperative CPB.Methods:Ninety children with congenital heart disease were recruited and randomly divided into 3 groups of 30 children in each.In Group 1,a 1.0μg·kg-1·h-1 intravenous bolus of dexmedetomidine was administered 10 minutes after induction of anesthesia,followed by a 0.2μg·kg-1·h-1 infusion until the surgical incision.In Group 2,a 0.5μg/kg intravenous bolus of dexmedetomidine was administered 10 minutes after induction of anesthesia,followed by a 0.1μg·kg-1·h-1 infusion until the surgical incision.The control group was given physiological saline using the same method as in Groups 1 and 2.The serum levels of nuclear factor-kappa B(NF-κB),S-100βprotein,neuron-specific enolase(NSE),tumor necrosis factor-α(TNF-α),and interleukin-6(IL-6)were measured before the surgery(T1),at the end of CPB(T2),2 hours after CPB(T3),6 hours after CPB(T4),and 24 hours after CPB(T5).The Wechsler Intelligence Scale for children(WISC)was measured before the operation and at 3,6,and 12 months after the operation to evaluate the neurodevelopmental state of the children.Results:The levels of the NF-κB,S-100βprotein,NSE,TNF-α,IL-6 were significantly higher at T2,T3,or T4 than before the surgery(T1)in the control group or the dexmedetomidine groups.However,the increases of NF-κB,TNF-α,IL-6,S-100βand NSE levels were significantly smaller in the dexmedetomidine groups than those in the control group(P<0.017).The WISC scores were similar among the three groups before or after the operation.Interpretation:The increases in NF-κB,TNF-α,and IL-6 levels indicated aggravation of the inflammatory reaction and the increase S-100βprotein and NSE levels indicated that the nervous system was damaged.Administration of dexmedetomidine to children with congenital heart disease undergoing intraoperative CPB can inhibit the inflammatory response and may ameliorate the neurodevelopmental damage caused by CPB.展开更多
Introduction:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and convulsions.Case presentation:We describe two...Introduction:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and convulsions.Case presentation:We describe two brothers with FBPase deficiency.The proband developed severe hypoglycemia and progressed to status epilepticus,and the brother showed slightly hypoglycemia with a good prognosis.Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers,which were inherited from the father and the mother,respectively.Conclusion:Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.展开更多
Introduction To improve compliance with voiding diaries in children with primary monosymptomatic nocturnal enuresis(PMNE),a new modified 3-day weekend frequency-volume chart(FVC)was designed,and the compliance and val...Introduction To improve compliance with voiding diaries in children with primary monosymptomatic nocturnal enuresis(PMNE),a new modified 3-day weekend frequency-volume chart(FVC)was designed,and the compliance and validity of this modified FVC was evaluated by comparing with the International Children's Continence Society(ICCS)recommended voiding diary.Methods A total of 1200 patients with PMNE were enrolled in the study from 13 centers in China and were randomly assigned to record this modified FVC or the ICCS-recommended voiding diary.The primary outcome measure was the compliance,assessed by comparing the completing index and the quality score of diaries between two groups.The secondary outcome measure was the validity,evaluated by comparing the constituent of subtypes,micturition parameters and response rate to desmopressin.Results Among the 1200 participants enrolled in the study,447 patients completed the ICCS-recommended voiding diary and 469 completed the modified diary.The diurnal completing index and the quality score of the modified FVC group were better than those of the ICCS group.In addition,there was no significant difference between these two groups in the subtype classification,or in the response rate to desmopressin.Conclusions The modified FVC could be applied to obtain the voiding characteristics of children with PMNE as the ICCS-recommended voiding diary does and offers a reasonable and better choice for children with PMNE from the unselected population in the future.展开更多
OBJECTIVE:To investigate the effect of—Xiaoyi Yusi decoction(XYYSD,消异育嗣汤),a Traditional Chinese Medicine(TCM),on in vitro fertilization and embryo transfer(IVF-ET)in patients with endometriosis,and to study the ...OBJECTIVE:To investigate the effect of—Xiaoyi Yusi decoction(XYYSD,消异育嗣汤),a Traditional Chinese Medicine(TCM),on in vitro fertilization and embryo transfer(IVF-ET)in patients with endometriosis,and to study the mechanism underpinning the action.METHODS:Women who underwent IVF-ET were divided into three groups by simple randomization:the treatment(n=32;with TCM treatment),patient(n=28;with endometriosis alone),and control(n=33;with male factor alone)groups.The luteal phase short-acting gonadotropin-releasing hormone agonist prolonged protocol was used in all three groups.To compare the changes in TCM scores and reproductive outcomes before and after TCM intervention in patients with endometriosis,partial least-squares discriminant analysis was used to analyze the follicular fluid samples of each group and screen and compare metabolites using the MetaboA nalyst software.RESULTS:The clinical data indicated that following TCM intervention,kidney deficiency and blood stasis symptom patterns improved dramatically in patients with endometriosis and that their clinical pregnancy rate increased significantly(71.9%vs 57.1%,P<0.05).Metabolomics showed that the two groups of samples were separated before and after TCM intervention.After TCM intervention,the intervention group was close to the control group,indicating that the TCM had a certain effect.Pathway analysis revealed that after TCM intervention,the metabolism of glycerin phospholipid,pyruvate,and citric acid was regulated.CONCLUSIONS:Through the pyruvate and glycerophospholipid metabolism pathways and tricarboxylic acid cycle,the TCM XYYSD successfully improved kidney deficiency and blood stasis symptom pattern,as well as the clinical reproductive outcomes of patients with endometriosis-related infertility.展开更多
To the Editor:Gain-of-function mutations in TMEM173,which encodes the protein stimulator of interferon(IFN)genes(STING),can reportedly cause an autoinflammatory syndrome termed STING-associated vasculopathy with onset...To the Editor:Gain-of-function mutations in TMEM173,which encodes the protein stimulator of interferon(IFN)genes(STING),can reportedly cause an autoinflammatory syndrome termed STING-associated vasculopathy with onset in infancy(SAVI).1-3 SAVI is characterized by cutaneous necrotic lesions,growth failure,systemic inflammation,and interstitial lung disease.1,4 Therapeutic management is challenging and difficult:steroids are only partially effective,and patients respond poorly to immunosuppressants.展开更多
Hengel et al recently reported that bi-allelic loss-of-function mutations in UDP-Glucose 6-Dehydrogenase(UGDH)caused a severe epileptic encephalopathy syndrome-Jamuar syndrome(OMIM#618792).1 The functional studies par...Hengel et al recently reported that bi-allelic loss-of-function mutations in UDP-Glucose 6-Dehydrogenase(UGDH)caused a severe epileptic encephalopathy syndrome-Jamuar syndrome(OMIM#618792).1 The functional studies partially recapitulated the clinical phenotypes in the patient-derived cerebral organoid.A reduced number of proliferating neuronal progenitors in cerebral organoids was shown,which is a critical mechanism in congenital microcephaly(CM)whose patients were born with an occipitofrontal circumference(OCF)more than 2 standard deviations below average for age and sex.However,none of the reported patients in the article presented the phenotype as CM.展开更多
Importance:Pathogenic variants in theRBM20 gene are associated with aggressive dilated cardiomyopathy(DCM).Recently,RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy(LVNC).Thus far,o...Importance:Pathogenic variants in theRBM20 gene are associated with aggressive dilated cardiomyopathy(DCM).Recently,RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy(LVNC).Thus far,only five families with LVNC have been reported to carry variants inRBM20.It remains unknown whether the variants inRBM20 associated with DCM can also cause LVNC.Objective:To elucidate the causativeRBM20 variant in two unrelated patients with both LVNC and DCM,and to identify the clinical characteristics associated with variants inRBM20.Methods:Trio whole-exome sequencing(WES)was performed.Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics(ACMG).Results:We identified two distinctde novo variants inRBM20(one per patient)in these two patients with LVNC.Both variants have been reported in patients with DCM,without the LVNC phenotype.Patient 1 was an 11-year-old girl who had DCM,LVNC,and heart failure;the ratio of noncompacted-to-compacted myocardium was 2.7:1.Ade novo heterozygous variant c.1907G>A(p.Arg636His)in exon 9 was identified in this patient.Patient 2 was a 13-year-old boy who had clinical phenotypes identical to those of Patient 1;the ratio of noncompacted-to-compacted myocardium was 3.2:1 in this patient.WES revealed ade novo heterozygous variant c.1909A>G(p.Ser637Gly)in exon 9.Both variants were previously characterized as pathogenic,and our study classified them as pathogenic variants based on the ACMG guidelines.Interpretation:We found that two patients with LVNC had variants inRBM20.Our results extended the clinical spectrum of the twoRBM20 variants and illustrated that the same variant inRBM20 can cause DCM,with or without the LVNC phenotype.展开更多
Importance: The appropriate anesthetic method can reduce the complications of children with tracheal foreign body and reduce the mortality rate of children. What kind of anesthetic method to choose has always been the...Importance: The appropriate anesthetic method can reduce the complications of children with tracheal foreign body and reduce the mortality rate of children. What kind of anesthetic method to choose has always been the focus of debate. Purpose: To evaluate the efficacy and safety of anesthesia with propofol-remifentanil combined with rocuronium for foreign body aspiration (FBA) removal with the positive-pressure ventilation technique. Methods: Medical records of patients who underwent bronchoscopy for evaluation of FBA in our unit from January 2015 to January 2018 were retrospectively reviewed. Demographic data (age and sex), nature of foreign body and location, complications, length of hospital stay and outcome were analyzed. Results: A total of 2886 children were included in this study. The median age was 24 months (8 months to 10 years). FBA was detected and removed in 95.6% of patients. The average operation time was 17 ± 5 min and average length of hospital stay was 2 days. Observed peri-interventional complications included desaturation (n = 66), laryngospasm (n = 19), laryngeal or subglottic edema (n = 15), irritating cough (n = 3), body movement (n = 76) and pneumonia (n = 206). No deaths occurred during hospitalization or follow-up in this series. Interpretation: Anesthesia with propofol-remifentanil combined with rocuronium under positive-pressure ventilation is an effective and safe technique during FBA removal in children.展开更多
基金Supported by the Department of Science and Technology of Henan Province,China,No.222102310461。
文摘BACKGROUND Transient neonatal diabetes mellitus(TNDM)is a rare form of diabetes mellitus that usually presents within the first 6 mo of life.Patients often enter remission within several months,although relapse can occur later in life.Mutations in the ABCC8 gene,which encodes the sulfonylurea receptor 1 of the ATP-sensitive potassium channel in pancreatic beta cells,are associated with TNDM and permanent neonatal diabetes.This study describes a novel de novo c.3880C>T heterozygous ABCC8 variant that causes TNDM and can be treated with sulfonylurea therapy.CASE SUMMARY We retrospectively analyzed 2 Chinese patients with TNDM who were diagnosed,treated,or referred for follow-up between September 2017 and September 2023.The patients were tested for mutations using targeted next-generation sequencing.Patients with neonatal diabetes mellitus caused by a c.3880C>T heterozygous missense variant in the ABCC8 gene have not been reported before.Both children had an onset of post-infectious diabetic ketoacidosis,which is worth noting.At a follow-up visit after discontinuing insulin injection,oral glyburide was found to be effective with no adverse reactions.CONCLUSION Early genetic testing of neonatal diabetes mellitus aids in accurate diagnosis and treatment and helps avoid daily insulin injections that may cause pain.
基金Supported by the Open Project Fund of Henan International Joint Laboratory of Prevention and Treatment of Pediatric Diseases,No.SS202204.
文摘Chronic inflammation,through a variety of mechanisms,plays a key role in the occurrence and development of digestive system malignant tumors(DSMTs).In this study,we feature and provide a comprehensive understanding of DSMT prevention strategies based on preventing or controlling chronic inflammation.The development and evaluation of cancer prevention strategies is a longstanding process.Cancer prevention,especially in the early stage of life,should be emphasized throughout the whole life course.Issues such as the time interval for colon cancer screening,the development of direct-acting antiviral drugs for liver cancer,and the Helicobacter pylori vaccine all need to be explored in long-term,large-scale experiments in the future.
基金Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority,Grand/Award Number:XTCX201819National Regional Medical Center Opening Project,Grand/Award Number:NRMC0110BCH Young Investigator Program(BCHYIP),Grant/Award Number:BCHYIP-3-39.
文摘To the Editor,Blau syndrome(BS)is a rare autosomal dominant disorder that occurs early in childhood.It is caused by mutations in nucleotide-binding oligomerization domain-containing protein 2(NOD2),also known as caspase activation and recruitment domain 15(CARD15).NOD2 mutations result in the activation of nuclear factor-kappa B and induction inflammation.1 Some patients develop the disease in a familial manner,but sporadic cases can occur.The main clinical manifestations of BS are the triad of rash,arthritis,and iridocyclitis,while multiple aortitis,deafness,heart disease,liver,spleen,and central nervous system are also involved.2 The disease was first described by Dr.Blau in 1985.
文摘Neuroinflammation is implicated in the pathophysiology of depression. The reduction of hippocampal volume indepression remains controversial because of interindividual variability in clinical studies. Herein, we studied theeffects of clomipramine, a tricyclic antidepressant (TCA) that modulates serotonin and norepinephrine uptake, onchronic mild unpredictable stress (CMS) induced depressive-like behaviors, hippocampal neuroinflammation, and hippocampal volume. Using a rat model of CMS induced depression, we administered clomipramine every day for4 weeks, starting 8 weeks after the beginning of the CMS procedure. Behavioral changes were measured by forcedswim test, open field test, and elevated plus maze. Neuroinflammation in the hippocampus was assessed byimmunohistochemistry, Western blot analysis, and quantitative polymerase chain reaction. Hippocampal volumeswere dynamically measured using T2- weighted imaging with 7T structural magnetic resonance imaging.
文摘Neuroinflammation is implicated in the pathophysiology of depression.The reduction of hippocampal volume in depression remains controversial because of interindividual variability in clinical studies.Herein,we studied the effects of clomipramine,a tricyclic antidepressant(TCA)that modulates serotonin and norepinephrine uptake,on chronic mild unpredictable stress(CMS)-induced depressive-like behaviors,hippocampal neuroinflammation,and hippocampal volume.
基金Scientific and Technological Projects of Henan Province,China(no.182102310440)Medical Science R&D Program of Henan Province,China(no.2018020598)International Research Laboratory Program of Henan Province,China(no.201605-005).
文摘Importance:Dexmedetomidine inhibits the inflammatory response associated with cardiopulmonary bypass(CPB)and protects neural function.However,the mechanism of dexmedetomidine’s anti-inflammatory pathway is unclear.Objective:To investigate the effect of dexmedetomidine on the cognitive level and expression of inflammatory factors in children with congenital heart disease undergoing intraoperative CPB.Methods:Ninety children with congenital heart disease were recruited and randomly divided into 3 groups of 30 children in each.In Group 1,a 1.0μg·kg-1·h-1 intravenous bolus of dexmedetomidine was administered 10 minutes after induction of anesthesia,followed by a 0.2μg·kg-1·h-1 infusion until the surgical incision.In Group 2,a 0.5μg/kg intravenous bolus of dexmedetomidine was administered 10 minutes after induction of anesthesia,followed by a 0.1μg·kg-1·h-1 infusion until the surgical incision.The control group was given physiological saline using the same method as in Groups 1 and 2.The serum levels of nuclear factor-kappa B(NF-κB),S-100βprotein,neuron-specific enolase(NSE),tumor necrosis factor-α(TNF-α),and interleukin-6(IL-6)were measured before the surgery(T1),at the end of CPB(T2),2 hours after CPB(T3),6 hours after CPB(T4),and 24 hours after CPB(T5).The Wechsler Intelligence Scale for children(WISC)was measured before the operation and at 3,6,and 12 months after the operation to evaluate the neurodevelopmental state of the children.Results:The levels of the NF-κB,S-100βprotein,NSE,TNF-α,IL-6 were significantly higher at T2,T3,or T4 than before the surgery(T1)in the control group or the dexmedetomidine groups.However,the increases of NF-κB,TNF-α,IL-6,S-100βand NSE levels were significantly smaller in the dexmedetomidine groups than those in the control group(P<0.017).The WISC scores were similar among the three groups before or after the operation.Interpretation:The increases in NF-κB,TNF-α,and IL-6 levels indicated aggravation of the inflammatory reaction and the increase S-100βprotein and NSE levels indicated that the nervous system was damaged.Administration of dexmedetomidine to children with congenital heart disease undergoing intraoperative CPB can inhibit the inflammatory response and may ameliorate the neurodevelopmental damage caused by CPB.
基金grants from the National Natural Science Foundation of China(81701125)the Foundation of Henan Scientific committee(182102310418)+1 种基金the Foundation of Henan Provincial Department of health(2018020603)the Educational commission of Henan province of China(18A310029).
文摘Introduction:Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis,characterized by hypoglycemia,ketonuria,metabolic acidosis and convulsions.Case presentation:We describe two brothers with FBPase deficiency.The proband developed severe hypoglycemia and progressed to status epilepticus,and the brother showed slightly hypoglycemia with a good prognosis.Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers,which were inherited from the father and the mother,respectively.Conclusion:Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.
基金funding from the National Natural Foundation of China(81770710)Key Research and Development Plan of Zhejiang Province(2019C03028)+1 种基金the Major projects jointly constructed by the Zhejiang province and National Health Commission(WKJ-ZJ-1908)the Natural Science Foundation of Zhejiang Province(LQ18H050001).
文摘Introduction To improve compliance with voiding diaries in children with primary monosymptomatic nocturnal enuresis(PMNE),a new modified 3-day weekend frequency-volume chart(FVC)was designed,and the compliance and validity of this modified FVC was evaluated by comparing with the International Children's Continence Society(ICCS)recommended voiding diary.Methods A total of 1200 patients with PMNE were enrolled in the study from 13 centers in China and were randomly assigned to record this modified FVC or the ICCS-recommended voiding diary.The primary outcome measure was the compliance,assessed by comparing the completing index and the quality score of diaries between two groups.The secondary outcome measure was the validity,evaluated by comparing the constituent of subtypes,micturition parameters and response rate to desmopressin.Results Among the 1200 participants enrolled in the study,447 patients completed the ICCS-recommended voiding diary and 469 completed the modified diary.The diurnal completing index and the quality score of the modified FVC group were better than those of the ICCS group.In addition,there was no significant difference between these two groups in the subtype classification,or in the response rate to desmopressin.Conclusions The modified FVC could be applied to obtain the voiding characteristics of children with PMNE as the ICCS-recommended voiding diary does and offers a reasonable and better choice for children with PMNE from the unselected population in the future.
基金the National Natural Science Fund Project:A Theoretical Study of Renal Reproduction Based on in vitro Fertilization Follicular Fluid Differential Protein-metabolite Global Regulatory Network(No.81874484)。
文摘OBJECTIVE:To investigate the effect of—Xiaoyi Yusi decoction(XYYSD,消异育嗣汤),a Traditional Chinese Medicine(TCM),on in vitro fertilization and embryo transfer(IVF-ET)in patients with endometriosis,and to study the mechanism underpinning the action.METHODS:Women who underwent IVF-ET were divided into three groups by simple randomization:the treatment(n=32;with TCM treatment),patient(n=28;with endometriosis alone),and control(n=33;with male factor alone)groups.The luteal phase short-acting gonadotropin-releasing hormone agonist prolonged protocol was used in all three groups.To compare the changes in TCM scores and reproductive outcomes before and after TCM intervention in patients with endometriosis,partial least-squares discriminant analysis was used to analyze the follicular fluid samples of each group and screen and compare metabolites using the MetaboA nalyst software.RESULTS:The clinical data indicated that following TCM intervention,kidney deficiency and blood stasis symptom patterns improved dramatically in patients with endometriosis and that their clinical pregnancy rate increased significantly(71.9%vs 57.1%,P<0.05).Metabolomics showed that the two groups of samples were separated before and after TCM intervention.After TCM intervention,the intervention group was close to the control group,indicating that the TCM had a certain effect.Pathway analysis revealed that after TCM intervention,the metabolism of glycerin phospholipid,pyruvate,and citric acid was regulated.CONCLUSIONS:Through the pyruvate and glycerophospholipid metabolism pathways and tricarboxylic acid cycle,the TCM XYYSD successfully improved kidney deficiency and blood stasis symptom pattern,as well as the clinical reproductive outcomes of patients with endometriosis-related infertility.
文摘To the Editor:Gain-of-function mutations in TMEM173,which encodes the protein stimulator of interferon(IFN)genes(STING),can reportedly cause an autoinflammatory syndrome termed STING-associated vasculopathy with onset in infancy(SAVI).1-3 SAVI is characterized by cutaneous necrotic lesions,growth failure,systemic inflammation,and interstitial lung disease.1,4 Therapeutic management is challenging and difficult:steroids are only partially effective,and patients respond poorly to immunosuppressants.
基金supported by the Natural Science Foundation of Hunan Province,China(No.2021JJ40280)the National Key Research and Development Program of China(No.2021YFC1005300)+4 种基金the Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province,China(No.2019SK1010,2019SK1014)the National Key R&D Program of China(No.2019YFC1005100)the Hunan Provincial Science and Technology Department(China)(No.2018SK2064)the Joint Construction Project of Henan Medical Science and Technology Project(China)(No.LHGJ20200618,2018020633)the Henan Engineering Research Center of Childhood Neurodevelopment Open Project(China)(No.SG201907).
文摘Hengel et al recently reported that bi-allelic loss-of-function mutations in UDP-Glucose 6-Dehydrogenase(UGDH)caused a severe epileptic encephalopathy syndrome-Jamuar syndrome(OMIM#618792).1 The functional studies partially recapitulated the clinical phenotypes in the patient-derived cerebral organoid.A reduced number of proliferating neuronal progenitors in cerebral organoids was shown,which is a critical mechanism in congenital microcephaly(CM)whose patients were born with an occipitofrontal circumference(OCF)more than 2 standard deviations below average for age and sex.However,none of the reported patients in the article presented the phenotype as CM.
文摘Importance:Pathogenic variants in theRBM20 gene are associated with aggressive dilated cardiomyopathy(DCM).Recently,RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy(LVNC).Thus far,only five families with LVNC have been reported to carry variants inRBM20.It remains unknown whether the variants inRBM20 associated with DCM can also cause LVNC.Objective:To elucidate the causativeRBM20 variant in two unrelated patients with both LVNC and DCM,and to identify the clinical characteristics associated with variants inRBM20.Methods:Trio whole-exome sequencing(WES)was performed.Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics(ACMG).Results:We identified two distinctde novo variants inRBM20(one per patient)in these two patients with LVNC.Both variants have been reported in patients with DCM,without the LVNC phenotype.Patient 1 was an 11-year-old girl who had DCM,LVNC,and heart failure;the ratio of noncompacted-to-compacted myocardium was 2.7:1.Ade novo heterozygous variant c.1907G>A(p.Arg636His)in exon 9 was identified in this patient.Patient 2 was a 13-year-old boy who had clinical phenotypes identical to those of Patient 1;the ratio of noncompacted-to-compacted myocardium was 3.2:1 in this patient.WES revealed ade novo heterozygous variant c.1909A>G(p.Ser637Gly)in exon 9.Both variants were previously characterized as pathogenic,and our study classified them as pathogenic variants based on the ACMG guidelines.Interpretation:We found that two patients with LVNC had variants inRBM20.Our results extended the clinical spectrum of the twoRBM20 variants and illustrated that the same variant inRBM20 can cause DCM,with or without the LVNC phenotype.
文摘Importance: The appropriate anesthetic method can reduce the complications of children with tracheal foreign body and reduce the mortality rate of children. What kind of anesthetic method to choose has always been the focus of debate. Purpose: To evaluate the efficacy and safety of anesthesia with propofol-remifentanil combined with rocuronium for foreign body aspiration (FBA) removal with the positive-pressure ventilation technique. Methods: Medical records of patients who underwent bronchoscopy for evaluation of FBA in our unit from January 2015 to January 2018 were retrospectively reviewed. Demographic data (age and sex), nature of foreign body and location, complications, length of hospital stay and outcome were analyzed. Results: A total of 2886 children were included in this study. The median age was 24 months (8 months to 10 years). FBA was detected and removed in 95.6% of patients. The average operation time was 17 ± 5 min and average length of hospital stay was 2 days. Observed peri-interventional complications included desaturation (n = 66), laryngospasm (n = 19), laryngeal or subglottic edema (n = 15), irritating cough (n = 3), body movement (n = 76) and pneumonia (n = 206). No deaths occurred during hospitalization or follow-up in this series. Interpretation: Anesthesia with propofol-remifentanil combined with rocuronium under positive-pressure ventilation is an effective and safe technique during FBA removal in children.