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.

OBJECTIVE: To explore the clinical efficacy of percutaneous vertebroplasty(PVP) combined with nerve block in the treatment of lumbar osteoporotic vertebral compression fractures under the guidance of traditional chinese medicine "theory of equal emphasis on muscle and bone". METHODS: Total of 115 patients with lumbar osteoporotic vertebral compression fractures were treated by percutaneous vertebroplasty from January 2015 to March 2022, including 51 males and 64 females, aged 25 to 86 (60.5±15.9) years. Among them, 48 cases were treated with PVP operation combined with erector spinae block and joint block of the injured vertebral articular eminence (intervention group), and 67 cases were treated with conventional PVP operation (control group). The visual analogue scale(VAS) and Oswestry disability index(ODI) before operation, 3 days, 1 month and 6 months after operation between two groups were evaluated. The operation time, number of punctures and intraoperative bleeding between two groups were compared. RESULTS: The VAS and ODI scores of both groups improved significantly after operation compared with those before operation(P<0.05). Moreover, the VAS and ODI scores of 3 days and 1 month after operation of the intervention group improved more significantly than that of the control group(P<0.05). The difference of VAS and ODI scores before operation and 6 months after operation between two groups had no statistical significances(P>0.05). There was no statistically significant difference in the number of punctures and intraoperative bleeding between the two groups (P>0.05). CONCLUSION Based on the theory of "equal emphasis on muscles and bones", PVP combined with nerve block can effectively relieve paravertebral soft tissue spasm and other "muscle injuries", which can significantly improve short-term postoperative low back pain and lumbar spine mobility compared to conventional PVP treatment, and accelerate postoperative recovery, resulting in satisfactory clinical outcomes.
Male ; Female ; Humans ; Fractures, Compression/surgery* ; Vertebroplasty/methods* ; Spinal Fractures/surgery* ; Spinal Puncture ; Lumbar Vertebrae/injuries* ; Muscles ; Treatment Outcome ; Osteoporotic Fractures/surgery* ; Retrospective Studies ; Bone Cements

OBJECTIVE: To investigate the involvement of endothelial cells (ECs)-derived exosomes in the anti-apoptotic effect of Danhong Injection (DHI) and the mechanism of DHI-induced exosomal protection against postinfarction myocardial apoptosis. METHODS: A mouse permanent myocardial infarction (MI) model was established, followed by a 14-day daily treatment with DHI, DHI plus GW4869 (an exosomal inhibitor), or saline. Phosphate-buffered saline (PBS)-induced ECs-derived exosomes were isolated, analyzed by miRNA microarray and validated by droplet digital polymerase chain reaction (ddPCR). The exosomes induced by DHI (DHI-exo), PBS (PBS-exo), or DHI+GW4869 (GW-exo) were isolated and injected into the peri-infarct zone following MI. The protective effects of DHI and DHI-exo on MI hearts were measured by echocardiography, Masson's trichrome staining, and TUNEL apoptosis assay. The Western blotting and quantitative reverse transcription PCR (qRT-PCR) were used to evaluate the expression levels of miR-125b/p53-mediated pathway components, including miR-125b, p53, Bak, Bax, and caspase-3 activities. RESULTS: DHI significantly improved cardiac function and reduced infarct size in MI mice (P<0.01), which was abolished by the GW4869 intervention. DHI promoted the exosomal secretion in ECs (P<0.01). According to the results of exosomal miRNA microarray assay, 30 differentially expressed miRNAs in the DHI-exo were identified (28 up-regulated miRNAs and 2 down-regulated miRNAs). Among them, DHI significantly elevated miR-125b level in DHI-exo and DHI-treated ECs, a recognized apoptotic inhibitor impeding p53 signaling (P<0.05). Remarkably, treatment with DHI and DHI-exo attenuated apoptosis, elevated miR-125b expression level, inhibited capsase-3 activity, and down-regulated the expression levels of proapoptotic effectors (p53, Bak, and Bax) in post-MI hearts, whereas these effects were blocked by GW4869 (P<0.05 or P<0.01). CONCLUSION DHI and DHI-induced exosomes inhibited apoptosis, promoted the miR-125b expression level, and regulated the p53 apoptotic pathway in post-infarction myocardium.
Mice ; Animals ; Tumor Suppressor Protein p53/metabolism* ; Endothelial Cells/metabolism* ; Exosomes/metabolism* ; bcl-2-Associated X Protein/metabolism* ; Myocardium/metabolism* ; Myocardial Infarction/drug therapy* ; Apoptosis ; MicroRNAs/metabolism*

OBJECTIVE: To investigate the complications of tourniquet in the clinical application of lower tibiofibular fracture. METHODS: From June 2018 to September 2019, 33 cases of closed lower tibiofibular fractures (AO type 43A) were treated with plates and screws and were divided into two groups according to whether pueumatic tourniquet was used:16 cases in the observation group, 13 males and 3 females, aged 18 to 69 (38.8±17.0) years, the operation time after injury was (6.9±1.7) days, and tourniquet was not used during operation. There were 17 cases in the control group, 13 males and 4 females, aged from 21 to 71 (43.8±12.4) years, the operation time after injury was (6.5±1.0) days, automatic pneumatic tourniquetwas routinely used in the operation. The operation time, blood loss, postoperative swelling, pain and other complications were compared between two groups. RESULTS: Total of 33 patients were followed up for an average of 15 months. There was no significant difference in operation time and blood loss between two groups ( CONCLUSION The fracture of lower tibiofibular segment is superficial and easy to be exposed and fixed during operation. In order to avoid tourniquet complications, it is not recommended to use air bag tourniquet routinely or minimize the application time of tourniquet.
Adolescent ; Adult ; Aged ; Female ; Fracture Fixation, Internal ; Fractures, Bone/surgery* ; Humans ; Male ; Middle Aged ; Operative Time ; Retrospective Studies ; Tourniquets ; Treatment Outcome ; Young Adult

Objective: To investigate direct and indirect economic burden, psychological impact, and quality of life in patients with psoriasis. Methods: Patients with psoriasis were recruited nationwide from "the psoriasis patient mutual assistance network" , a WeChat official account of "psoriasis patient mutual assistance platform" , and WeChat groups of psoriasis patients in different regions between July and September in 2018. An internet-based online questionnaire survey was carried out on these patients by using a self-designed questionnaire and Dermatology Life Quality Index (DLQI) scale. Comparison of enumeration data was carried out by using chi-square test, and comparison of measurement data by using Mann-Whitney U test. Results: A total of 497 valid questionnaires were collected, and 497 patients with psoriasis were enrolled into this survey, including 190 patients with mild to moderate psoriasis and 307 patients with severe psoriasis. These patients were from 8 geographic regions of China, and mainly in east China and north China. The total annual expenditure for psoriasis per patient accounted for 20% (8%, 50%) (M[P25, P75]) of the total annual income, the annual hospitalization rate was 21.3%, the annual sick leave or absence duration was 15.0 (1.0, 40.0) days, and the unemployment rate due to psoriasis was 37.0%. Of the 497 patients, 443 (89.1%) suffered from mental stress due to psoriasis, 169 (34.0%) had suicide intention, and 23 (4.6%) had ever attempted suicide. The DLQI score for all the patients was 14 (8, 19) , 307 (61.8%) patients reported a severe or extremely severe impact on the quality of life (DLQI > 10, severe psoriasis group) , and 190 (38.2%) patients reported a mild or moderate impact on the quality of life (0 ≤ DLQI ≤ 10, mild to moderate psoriasis group) . Compared with the mild to moderate psoriasis group, the severe psoriasis group showed a significantly higher ratio of total annual expenditure to total annual income (30% vs. 10.0%, P < 0.01) , hospitalization rate (26.4% vs. 13.2%, P < 0.01) , annual sick leave or absence duration (20.0 days vs. 5.5 days, P < 0.01) , unemployment rate (47.9% vs. 19.5%, P < 0.01) , proportion of patients with mental stress (99.0% vs. 73.2%, P < 0.01) , proportion of patients with suicide intention (46.3% vs. 14.2%, P < 0.01) and proportion of patients who had suicide behavior (6.8% vs. 1.1%, P < 0.01) . Conclusions Psoriasis imposes heavy economic and psychological burden on patients, and decreases their quality of life. Meanwhile, patients with severely or extremely severely affected quality of life have higher disease burden compared with those with mildly to moderately affected quality of life.

Objective To establish the medical reference range of amino acid and acyl car-nitine tandem mass spectrometry in normal neonates in Gansu province,and provide the basis for the determination of amino acid and acyl carnitine test results in the screening of neonatal genetic metabolic diseases.Methods A non derivatization tandem mass spectro-metry kit was used to screen 77 957 samples of neonates in Gansu province.Statistical soft ware SPSS19.0 was used to analyze the 95％ reference range of 11 amino acids and 31 kinds of acylcarnitine indexes.Results The medical reference value(μmol/L) of the series mass spectra of newborn genetic metabolic diseases in Gansu province was established:ALA (216.17 ～ 727.58),ARG (1.80～33.03),CIT (4.87～30.67),GLY (183.43～841.46),LEU (79.85～289.45),MET (3.32～25.86),ORN (34.09～225.15),PHE (27.04～83.37),PRO (79.44～337.59),TYR (37.61～177.79),VAL (59.31～250.95),C0 (9.35～45.35),C2 (2.62～25.40),C3 (0.46～3.3),C3DC_C4OH (0.02～0.20),C4 (0.08～0.31),C4DC_C5OH (0.10～0.32),C5 (0.05～0.30),C5:1 (0.00～0.01),C5DC_C6OH (0.04～0.22),C6 (0.01～0.06),C6DC (0.03～0.13),C8 (0.02～0.08),C8:1 (0.05～0.31),C10 (0.02～0.12),C10:1 (0.03～0.10),C10:2 (0.01～0.10),C12 (0.02～0.13),C12:1 (0.02～0.10),C14 (0.07～0.30),C14:1 (0.03～0.13),C14:2 (0.01～0.03),C14OH (0.00～0.02),C16 (0.59～4.91),C16:1 (0.03～0.30),C16:1-OH (0.01～0.08),C16OH (0.01～0.03),C18 (0.29～1.30),C18:1 (0.57～2.32),C18:1-OH (0.01～0.05),C18:2 (0.08～0.51) and C18OH (0.00～0.02).Conclusion The establishment of the medical reference range of the normal neonatal dryblood spot amino acid and acyl carnitine tandem mass spectrometry in Gansu province can provide reference for the determination of the results of the cluster mass spectrometry in this region.

OBJECTIVETo discuss the clinical effects of external fixator combined with limited internal fixation in the treatment of pediatric distal femur fractures.

METHODSFrom January 2008 to June 2014, 17 children of distal femur fractures were treated by external fixator combined with limited internal fixation. There were 12 males and 5 females, aged from 6 to 13 years old with an average of 10.2 years, ranged in the course of disease from 1 h to 2 d. Preoperative diagnoses were confirmed by X-ray films in all children. There were 11 patients with supracondylar fracture , and 6 patients with intercondylar comminuted fracture. According to AO/ASIF classification, 9 fractures were type A1, 5 cases were type A2,and 3 cases were type C1. The intraoperative and postoperative complications, postoperative radiological examination, lower limbs length and motion of knee joints were observed. Knee joint function was assessed by KSS score.

RESULTSAll the patients were followed up from 6 to 38 months with an average of 24.4 months. No nerve or blood vessel injury was found. One case complicated with the external fixation loosening, 2 cases with the infection of pin hole and 3 cases with the leg length discrepancy. Knee joint mobility and length measurement (compared with the contralateral), the average limited inflexion was 10 degrees (0 degrees to 20 degrees), the average limited straight was 4 degrees (0 degrees to 10), the average varus or valgus angle was 3 degrees (0 degrees to 5 degrees). KSS of the injured side was (96.4 +/- 5.0) points at final follow-up, 16 cases got excellent results and 1 good. All fractures obtained healing and no epiphyseal closed early was found.

CONCLUSIONExternal fixator combined with limited internal fixation has advantages of simple operation, reliable fixation, early functional exercise in treating pediatric distal femurs fractures.

Adolescent ; Child ; External Fixators ; Female ; Femoral Fractures ; surgery ; Femur ; injuries ; surgery ; Fracture Fixation, Internal ; Humans ; Internal Fixators ; Male

Immune-mediated inflammatory injury is an important feature of the disease aggravation of hepatitis B virus-related acute-on-chronic liver failure (ACLF). Toll-like receptors (TLRs) have been shown previously to play a pivotal role in the activation of innate immunity. The purpose of this study was to characterize the TLR4 expression in peripheral blood mononuclear cells (PBMCs) of ACLF patients and its possible role in the disease aggravation. Twelve healthy subjects, 15 chronic HBV-infected (CHB) patients and 15 ACLF patients were enrolled in this study. The TLR4 expression in PBMCs and T cells of all subjects was examined by real-time PCR and flow cytometry. The correlation of TLR4 expression on T cells with the markers of disease aggravation was evaluated in ACLF patients. The ability of TLR4 ligands stimulation to induce inflammatory cytokine production in ACLF patients was analyzed by flow cytometry. The results showed that TLR4 mRNA level was upregulated in PBMCs of ACLF patients compared to that in the healthy subjects and the CHB patients. Specifically, the expression of TLR4 on CD4(+) and CD8(+) T cells of PBMCs was significantly increased in ACLF patients. The TLR4 levels on CD4(+) and CD8(+) T cells were positively correlated with serum total bilirubin (TBIL), direct bilirubin (DBIL), international normalized ratio (INR) levels and white blood cells (WBCs), and negatively correlated with serum albumin (ALB) levels in the HBV-infected patients, indicating TLR4 pathway may play a role in the disease aggravation of ACLF. In vitro TLR4 ligand stimulation on PBMCs of ACLF patients induced a strong TNF-α production by CD4(+) T cells, which was also positively correlated with the serum markers for liver injury severity. It was concluded that TLR4 expression is upregulated on T cells in PBMCs, which is associated with the aggravation of ACLF.
Adult ; End Stage Liver Disease ; metabolism ; virology ; Female ; Hepatitis B virus ; pathogenicity ; Humans ; Male ; Middle Aged ; Monocytes ; metabolism ; RNA, Messenger ; genetics ; T-Lymphocytes ; metabolism ; Toll-Like Receptor 4 ; genetics ; metabolism ; Up-Regulation

OBJECTIVETo study the rehabilitation effects ergometry on COPD patients.

METHODSThirty COPD out-patients in our Hospital were randomly divided into 2 groups. Rehabilitation group, 15 patients, performed leg ergometry exercise of 80% peak Watt x 30min/d x 3d/w x 12w. Another 15 patients were control group without exercise. All patients received conventional therapy. Pulmonary function testing (PFT), cardiopulmonary exercise testing (CPET), arterial blood gas analysis (ABG), Borg and CAT sores were done at both baseline and 12 w.

RESULTSThere was no statistically difference in lung function testing, blood gas analysis and cardiopulmonary exercise test when pre- exercises between 2 sub-groups. The IC, peak VO2 and peak, W of rehabilitation group significantly increased (P < 0.05); and Borg and CAT.scores significantly decreased (P < 0.05) from baseline; and other PFT and ABG did not change (P > 0.05). While there was no difference in control group (P > 0.05).

CONCLUSIONLeg submaximal ergometry rehabilitation improves health condition and ameliorate dyspnea symptoms in COPD patients.

Blood Gas Analysis ; Dyspnea ; therapy ; Exercise Test ; Exercise Therapy ; Humans ; Pulmonary Disease, Chronic Obstructive ; therapy ; Respiratory Function Tests