Objective To assess the efficacy of tandem mass spectrometry-specific indicators in diagnosing β-ketothiolase deficiency(BKD)and to elucidate the associated gene variations contributing to the corresponding pathogenic phenotype,thereby facilitating rapid and accurate diagnosis of BKD.Methods Data from tandem mass spectrometry(MS/MS)screening of dried blood spots collected from 16,071 children between January 2018 and December 2021,along with results from gas chromatography-mass spectrometry(GC-MS)analysis and high-throughput sequencing of positive cases,were analyzed retrospectively.The study aimed to evaluate the contribution of specific MS/MS indicators in the clinical diagnosis of BKD and to trace the genetic etiology of this disease.Results Among the 16 071 subjects screened by MS/MS,37 cases(2.30‰)exhibited elevated C5OH levels,41 cases(2.55‰)showed increased C5∶1 levels,and 2 cases were diagnosed with BKD based on GC-MS analysis.When diagnosing BKD using C5OH as a single indicator,the false positive rate was 0.22%,which is lower than that of C5∶1(0.24%).The positive predictive value for C5OH was 5.40%,higher than that of C5∶1(4.88%).Among the 16 071 pediatric patients,only 2 cases were diagnosed with BKD due to elevated C5OH combined with increased C5∶1 levels,resulting in a positive predictive value of 100%.Whole exome sequencing of these two BKD patients revealed that both carried acetyl-CoA acetyltransferase 1(ACAT1)gene double allele missense heterozygous mutations.The four previously unreported mutation sites were c.949G>C(p.Asp317His),c.1063G>A(p.Ala355Thr),c.146G>A(p.Arg49Lys),and c.700G>A(p.Glu234Lys).These findings provide novel insights into the genetic basis of BKD.Conclusions The MS/MS screening indicator C5OH demonstrates superior diagnostic efficacy compared to C5∶1 in diagnosing BKD,as evidenced by lower false positive rates and higher positive predictive values.When diagnosing BKD,the use of combined indicators significantly enhances the accuracy of biochemical diagnosis compared to single indicators.Exome sequencing revealed that all BKD patients carried previously unreported mutations in the ACAT1.

Objective To assess the efficacy of tandem mass spectrometry-specific indicators in diagnosing β-ketothiolase deficiency(BKD)and to elucidate the associated gene variations contributing to the corresponding pathogenic phenotype,thereby facilitating rapid and accurate diagnosis of BKD.Methods Data from tandem mass spectrometry(MS/MS)screening of dried blood spots collected from 16,071 children between January 2018 and December 2021,along with results from gas chromatography-mass spectrometry(GC-MS)analysis and high-throughput sequencing of positive cases,were analyzed retrospectively.The study aimed to evaluate the contribution of specific MS/MS indicators in the clinical diagnosis of BKD and to trace the genetic etiology of this disease.Results Among the 16 071 subjects screened by MS/MS,37 cases(2.30‰)exhibited elevated C5OH levels,41 cases(2.55‰)showed increased C5∶1 levels,and 2 cases were diagnosed with BKD based on GC-MS analysis.When diagnosing BKD using C5OH as a single indicator,the false positive rate was 0.22%,which is lower than that of C5∶1(0.24%).The positive predictive value for C5OH was 5.40%,higher than that of C5∶1(4.88%).Among the 16 071 pediatric patients,only 2 cases were diagnosed with BKD due to elevated C5OH combined with increased C5∶1 levels,resulting in a positive predictive value of 100%.Whole exome sequencing of these two BKD patients revealed that both carried acetyl-CoA acetyltransferase 1(ACAT1)gene double allele missense heterozygous mutations.The four previously unreported mutation sites were c.949G>C(p.Asp317His),c.1063G>A(p.Ala355Thr),c.146G>A(p.Arg49Lys),and c.700G>A(p.Glu234Lys).These findings provide novel insights into the genetic basis of BKD.Conclusions The MS/MS screening indicator C5OH demonstrates superior diagnostic efficacy compared to C5∶1 in diagnosing BKD,as evidenced by lower false positive rates and higher positive predictive values.When diagnosing BKD,the use of combined indicators significantly enhances the accuracy of biochemical diagnosis compared to single indicators.Exome sequencing revealed that all BKD patients carried previously unreported mutations in the ACAT1.

Objective: To explore the clinical efficacy of spine subtle adjusting manipulation for postpartum low back pain (PLBP). Methods: A total of 76 patients with PLBP were randomized into a control group and a treatment group, with 38 cases in each group. The control group was treated with core muscle strengthening exercises, and the treatment group was treated with spine subtle adjusting manipulation. After 3 weeks of treatment, the clinical efficacy was observed, and the visual analog scale (VAS) score and Oswestry disability index (ODI), and the changes of lumbar Cobb angle and pelvic rotation were compared between the two groups. Results: The total effective rate of the treatment group was 92.1％, and that of the control group was 78.9％. The difference between the two groups was statistically significant (P<0.05). After treatment, the VAS score and ODI in both groups decreased, and the intra-group differences were all statistically significant (P<0.05). There were no intra-group statistical differences in the lumbar Cobb angle or pelvic rotation in the two groups (P>0.05). After treatment, there were no statistical differences in the lumbar Cobb angle or pelvic rotation between the two groups (P>0.05); the VAS score and ODI in the treatment group were significantly lower than those in the control group (P<0.05). Conclusion: Spine subtle adjusting manipulation can effectively relieve the pain for patients with PLBP, and improve their daily activity function.

Objective To compare the differences in metabolites between newborns with intrauterine growth restriction (IUGR) and appropriate for gestational age (AGA) in order to understand the changes in metabolites of newborns with IUGR and explore the possible metabolic mechanism of tissue and organ damages in patients with IUGR,with the ultimate goal of providing the basis for clinical intervention.Methods A total of 45 newborns with IUGR and 56 AGA newborns who were hospitalized in the Neonatal Intensive Care Unit of Bayi Children's Hospital,the General Hospital of the Chinese People's Liberation Army between July 2009 and June 2015 and who underwent metabolic disease screening were enrolled in this study.The differences in of 21 amino acids and 55 carnitines in peripheral blood,as well as the changes in the ratios of free carnitine and acylcarnitine to total carnitine,were compared.Results (1)According to the comparison of birth weights (＜ 3rd percentile,3rd-＜ 5th percentile,5th-＜ 10th percentile,and 10th-90th percentile),peripheral blood of the IUGR newborns with birth weight ＜ 3rd percentile contained lower concentrations of alanine (F =2.94,P =0.03),homocysteine (F =3.83,P =0.01),methionine (F =2.88,P =0.04),ornithine(F =3.32,P =0.02),serine (F =3.09,P =0.03) and tyrosine (F =4.76,P =0.00) than those of the AGA newborns.In the peripheral blood of the IUGR newborns with birth weight of 3rd-＜ 5th percentile,the diversity of alanine concentrations showed compensatory increase,and their alanine concentrations were higher than those of the AGA newborns.(2) Metabolites also had significant differences in different gestational age groups:the concentrations of alanine (t =2.423,P =0.026),proline (t =2.470,P =0.023),and 14-carbon acylcarnitine (t =-2.870,P =0.010) in premature was higher than those in full-term newborns,but the concentration of 26-carbon acylcarnitine (t =-2.189,P =0.041) was lower than full-term ones;the concentrations of alanine (t =2.354,P =0.022),glutamine (t =2.520,P =0.015),pipecolic acid (t =2.017,P =0.049),proline (t =2.204,P =0.032) in premature AGA newborns were higher than those in full-term ones,but the concentrations of homocysteine (t =-2.624,P =0.011),seven carbon acylcarnitine(t =-2.403,P =0.020),and ten carbon acylcarnitine (t =-5.739,P =0.000) were lower than those of full-term AGA newborns;the concentrations of homocysteine (t =-2.421,P =0.020),decanogl carnitine(t =-2.181,P =0.035),methyl propylene acyl carnitine (t =-2.373,P =0.022),pentyl acyl carnitine (t =-2.165,P =0.036),decyl acyl carnitine (t =-4.148,P =0.000),hydroxyl acetyl carnitine (t =-2.097,P =0.042),hydroxyl cetyl acylcarnitine (t =-2.446,P =0.019) in premature IUGR were higher than those in fullterm IUGR newborns;but the concentrations of arginine (t =2.167,P =0.036),glutamic acid (t =2.469,P =0.018),histidine (t =2.718,P =0.009),leucine/isoleucine (t =3.938,P =0.000),ornithine (t =4.264,P =0.000),serine (t =2.647,P =0.011),threonine (t =2.311,P =0.026),tryptophan (t =4.040,P =0.000),valine (t =2.700,P =0.01),7-carbon acylcarnitine (t =-2.44 1,P =0.019),18-carbon diene carnitine (t =2.449,P =0.018),capric acylcarnitine(t =-4.148,P =0.000) and hydroxyl acetyl carnitine (t =-2.097,P =0.042) were lower than those in full-term IUGR newborns.(3) For AGA newborns,metabolites had no differences between male and female (P ＞ 0.05);however,for newborns with IUGR,metabolites significantly differed between male and female,and the concentrations of aspartic acid(t=2.521,P =0.016),glutamate(t =-2.175,P =0.035) in male IUGR were lower than those in female newborns with IUGR,but the concentration of 26-carbon carnitine (t =2.231,P =0.031) was higher than that in female group.(4) Birth weight had no significant effect on free carnitine concentration or on the ratios of free carnitine and acylcarnitine to total carnitine(all P ＞ 0.05).Conclusions IUGR infants exhibit significant abnormalities in amino acid and acylcarnitine metabolism,especially those with birth weight ＜ 3rd percentile.With the increase of birth weight,amino acids and acylcarnitines showed compensatory increases or decrease,and when birth weight reached the 10th percentile,the newborns with IUGR were close to the AGA newborns.

Objective To investigate the differences of HCV infection rates among blood donors of different Chinese nationalities.Methods Anti-HCV results from more than 300000 blood donors of 41 nationalities from 8 provinces or autonomous regions were investigated and analyzed.Serum anti-HCV antibody was tested by ELISA.Results(1)The anti-HCV prevalence rate was 0.98%(676/68782) among first time blood donors;0.71%(1750/245137) among repeated donors;and the overall anti-HCV prevalence rate among all the blood donors was 0.77%(2426/313919).The anti-HCV prevalence rate was higher among first time donors,compared to repeated donors(P