With the aging of the population,the disease burden of heart valve disease in China has significantly increased.In recent years,the interventional treatment for heart valve disease has flourished,among which transcatheter aortic valve replacement(TAVR)has become the first-line treatment for elderly patients with aortic valve stenosis.China started relatively late in the field of interventional treatment for heart valve disease.The construction of heart valve centers helps to standardize the diagnosis and interventional treatment of heart valve disease in China and improve the management of prognosis for patients.Up to December 2024,a total of 453 centers have participated in the construction of heart valve centers,including 100 construction centers and 40 certification centers.The National Transcatheter Valve Therapeutics Registry(NTCVR)database has reported a total of 28 594 cases,with approximately 50％of Chinese TAVR cases recorded in NTCVR database.The construction of the heart valve centers has shown initial results,significantly optimizing the process of diagnosis and treatment of heart valve disease and improving the prognosis.At present,there are still many shortcomings in the construction of heart valve centers.For example,the follow-up rate of patients after discharge is low,and long-term management after discharge needs to be further improved.There is still a gap in some indicators between construction centers and certification centers,and the promotion of high-quality management of interventional treatment of heart valve disease in China is still a long way to go.

Objective To explore the relationship between peripheral blood mitochondrial DNA(mtDNA)copy number and urinary microalbumin(MAlb)in patients with type 2 diabetes mellitus(T2DM).Methods 87 patients with T2DM from the Endocrinology Department of East Hospital of Tongji University were selected based on inclusion criteria.According to urinary MAlb levels,patients were divided into T2DM group(MAlb＜30 mg/L)and MAlb group(MAlb＞30 mg/L).General patient information was collected,and clinical indicators such as blood glucose,lipid profile,glycated hemoglobin and insulin were measured.Peripheral blood mtDNA was extracted and the copy number was detected using real-time quantitative polymerase chain reaction(RT-PCR).Logistic regression analysis was used to identify the risk factors for albuminuria.Results Compared with T2DM group,DM duration,serum creatinine,serum uric acid and copy number of mtDNA in MAlb group increased(P＜0.05),while high density lipoprotein cholesterol decreased(P＜0.05).Logistic analysis showed that the copy number of mtDNA was the influencing factor of MAlb in T2DM patients.Conclusions The peripheral blood mtDNA copy number in T2DM patients is positively correlated with urinary microalbumin,thus providing a potential target for early detection of DKD.

Objective To explore the relationship between peripheral blood mitochondrial DNA(mtDNA)copy number and urinary microalbumin(MAlb)in patients with type 2 diabetes mellitus(T2DM).Methods 87 patients with T2DM from the Endocrinology Department of East Hospital of Tongji University were selected based on inclusion criteria.According to urinary MAlb levels,patients were divided into T2DM group(MAlb＜30 mg/L)and MAlb group(MAlb＞30 mg/L).General patient information was collected,and clinical indicators such as blood glucose,lipid profile,glycated hemoglobin and insulin were measured.Peripheral blood mtDNA was extracted and the copy number was detected using real-time quantitative polymerase chain reaction(RT-PCR).Logistic regression analysis was used to identify the risk factors for albuminuria.Results Compared with T2DM group,DM duration,serum creatinine,serum uric acid and copy number of mtDNA in MAlb group increased(P＜0.05),while high density lipoprotein cholesterol decreased(P＜0.05).Logistic analysis showed that the copy number of mtDNA was the influencing factor of MAlb in T2DM patients.Conclusions The peripheral blood mtDNA copy number in T2DM patients is positively correlated with urinary microalbumin,thus providing a potential target for early detection of DKD.

Objective To observe the efficacy of self-made auxiliary reduction device combined with sinus tarsi approach(STA)in the treatment of Sanders type Ⅱ to Ⅳ calcaneal fractures.Methods A total of 40 patients with Sanders type Ⅱ to Ⅳ calcaneal fractures admitted to our hospital from January to June 2023 were selected and divided into the control group and the observation group by the random number table method,with 20 cases in each group.Patients in the control group underwent surgical treatment with the heel extensile lateral approach(ELA),while patients in the observation group underwent surgical treatment with the auxiliary reduction device combined with STA.The surgical-related indicators,postoperative complications and ankle-foot anatomical indicators of patients in the two groups were compared.The recovery of limb function was evaluated by the American Orthopaedic Foot and Ankle Society(AOFAS)ankle-hindfoot scale and Maryland foot function score.Results There was no statistically significant difference in the operation time,postoperative incision drying time,or duration of postoperative pain between the two groups(P>0.05).The postoperative suture removal time of the patients in the observation group was shorter than that of the control group,and the difference was statistically significant(P<0.05).The incidence of skin edge necrosis of incision and the total incidence of complications of patients in the observation group were significantly lower than those in the control group(P<0.05).The B?hler angle and Gissane angle of patients in both groups increased after surgery compared with those before surgery(P<0.05);there was no statistically significant difference in the B?hler angle or Gissane angle after surgery of patients between the two groups(P>0.05).The AOFAS score1 week after surgery of the patients in the observation group was higher than that in the control group(P<0.05),while there were no statistically significant differences in the AOFAS scores or Maryland scores of patients at other time points between the two groups(P>0.05).Conclusion The use of the auxiliary reduction device in surgical treatment with STA for Sanders type Ⅱ to Ⅳ calcaneal fractures can effectively restore the function of the foot and ankle,with short postoperative suture removal time and low incidence of postoperative complications.

With the aggravation of population aging in our country,the prevalence of osteoporosis(OP)has surged dramatically.Currently,the diagnosis of OP primarily relies on bone mineral density(BMD),and the precise measurement of BMD is crucial in the diagnosis and treatment of spinal surgical diseases.In recent years,computed tomography(CT)has gained widespread attention in clinical diagnosis and treatment due to its unique advantages.Vertebral CT values not only enhance the diagnostic rate of OP but also effectively predict the occurrence of postoperative complications such as adjacent vertebral fractures,fusion device subsidence,and pedicle screw loosening.This article summarizes the research progress of vertebral CT value in the field of spine surgery,and discusses its feasibility in guiding spinal surgery and its correlation with postoperative complications of spine.Additionally,it elaborates on the progress of combining CT with artificial intelligence(AI)to assist in disease diagnosis and treatment,aiming to better promote the clinical application of vertebral CT values.

OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene. RESULTS: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295). CONCLUSIONS Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans ; Phenylketonurias/epidemiology* ; Female ; Male ; Retrospective Studies ; Phenylalanine Hydroxylase/genetics* ; Mutation ; Child, Preschool ; China/epidemiology* ; Child ; Infant

With the aging of the population,the disease burden of heart valve disease in China has significantly increased.In recent years,the interventional treatment for heart valve disease has flourished,among which transcatheter aortic valve replacement(TAVR)has become the first-line treatment for elderly patients with aortic valve stenosis.China started relatively late in the field of interventional treatment for heart valve disease.The construction of heart valve centers helps to standardize the diagnosis and interventional treatment of heart valve disease in China and improve the management of prognosis for patients.Up to December 2024,a total of 453 centers have participated in the construction of heart valve centers,including 100 construction centers and 40 certification centers.The National Transcatheter Valve Therapeutics Registry(NTCVR)database has reported a total of 28 594 cases,with approximately 50％of Chinese TAVR cases recorded in NTCVR database.The construction of the heart valve centers has shown initial results,significantly optimizing the process of diagnosis and treatment of heart valve disease and improving the prognosis.At present,there are still many shortcomings in the construction of heart valve centers.For example,the follow-up rate of patients after discharge is low,and long-term management after discharge needs to be further improved.There is still a gap in some indicators between construction centers and certification centers,and the promotion of high-quality management of interventional treatment of heart valve disease in China is still a long way to go.

Objective To observe the efficacy of self-made auxiliary reduction device combined with sinus tarsi approach(STA)in the treatment of Sanders type Ⅱ to Ⅳ calcaneal fractures.Methods A total of 40 patients with Sanders type Ⅱ to Ⅳ calcaneal fractures admitted to our hospital from January to June 2023 were selected and divided into the control group and the observation group by the random number table method,with 20 cases in each group.Patients in the control group underwent surgical treatment with the heel extensile lateral approach(ELA),while patients in the observation group underwent surgical treatment with the auxiliary reduction device combined with STA.The surgical-related indicators,postoperative complications and ankle-foot anatomical indicators of patients in the two groups were compared.The recovery of limb function was evaluated by the American Orthopaedic Foot and Ankle Society(AOFAS)ankle-hindfoot scale and Maryland foot function score.Results There was no statistically significant difference in the operation time,postoperative incision drying time,or duration of postoperative pain between the two groups(P>0.05).The postoperative suture removal time of the patients in the observation group was shorter than that of the control group,and the difference was statistically significant(P<0.05).The incidence of skin edge necrosis of incision and the total incidence of complications of patients in the observation group were significantly lower than those in the control group(P<0.05).The B?hler angle and Gissane angle of patients in both groups increased after surgery compared with those before surgery(P<0.05);there was no statistically significant difference in the B?hler angle or Gissane angle after surgery of patients between the two groups(P>0.05).The AOFAS score1 week after surgery of the patients in the observation group was higher than that in the control group(P<0.05),while there were no statistically significant differences in the AOFAS scores or Maryland scores of patients at other time points between the two groups(P>0.05).Conclusion The use of the auxiliary reduction device in surgical treatment with STA for Sanders type Ⅱ to Ⅳ calcaneal fractures can effectively restore the function of the foot and ankle,with short postoperative suture removal time and low incidence of postoperative complications.

Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.