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 compare accuracy of anterior cervical pedicle screws between assist of rapid prototyping 3D guide plate and free-hand insertion, and evaluate the safety of two methods. METHODS: Eight adult cervical cadaver specimens after formaldehyde immersion, including 4 males and 4 females, aged 32 to 65(40.3±5.6) years old. After X-ray examination to exclude bone damage and deformity, 4 of them (3D guide plate group) randomly selected were for CT scan to obtain DICOM format data, and the data was imported into Mimics software for model, designed the ideal entry point and nail path for anterior cervicaltranspedicular screw (ATPS). After obtaining the personalized guide plate of the nail channel, it was exported as STL data, and the individual guide plate was printed by rapid prototyping and 3D printing technology. In turn, with the assistance of 3D guide plates, one-to-one personalized ATPS screws were placed on the four lower cervical cadaver specimens. Another 4 (free-hand group) lower cervical cadaver specimens were implanted with ATPS screws using free-hand technique. All specimens were performed CT thin-layer scanning and three-dimensional reconstruction after operation. The Tomasino method was used to evaluate the safety of the screws on the CT cross-sectional and sagittal images, to determine whether there was a cortical puncture of the lower and inner edges of the pedicle. According to the CT rating results, gradeⅠandⅡwere safe, and grade Ⅲ- Ⅴ were dangerous.And the accuracy of screws was recorded and analyzed between two groups. RESULTS: Two screws were inserted in each segment from C CONCLUSION The 3D printing rapid prototyping guide plate assisted insertion of the anterior cervical pedicle screw can significantly improve the accuracy and safety, and provide a theoretical basis for further clinical application.
Adult ; Aged ; Bone Plates ; Cervical Vertebrae/surgery* ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged ; Pedicle Screws ; Printing, Three-Dimensional

OBJECTIVETo explore the effects of Dangua Recipe (DGR) on glycolipid metabolism, serum reactive oxygen species (ROS) level, nuclear factor kappa B (NF-kappaB) positive expression and its mRNA expression level in the thoracic aorta of diabetic rats with atherosclerosis, thus revealing its partial mechanisms for intervening chronic diabetic complications.

METHODSRecruited 40 Goto-Kakisaki (GK) Wistar rats were fed with high fat forage containing metabolic inhibition Propylthiouracil, and peritoneally injected with endothelial NOS inhibitor N-nitro-L-arginine methyl ester to establish a high fat diabetes model with atherosclerosis. The modeled GK rats were stratified by body weight, and then, by blood glucose level from high to low, randomly divided into the DGR group (at the daily dose of 8 mL/kg), the metformin group (MET, at the daily dose of 150 mg/kg), the simvastatin group (SIM, at the daily dose of 2 mg/kg), and the model group (MOD, fed with pure water, at the daily dose of 8 mL/kg) according to the random number table, 10 in each group. Another 10 Wistar rats of the same ages and comparable body weight level were recruited as the normal control group. All the interventions lasted for 24 weeks by gastrogavage. The fasting blood glucose (FBG) and body weight were monitored. The HbA1c, TC, LDL-C, HDL-C, TG, serum ROS were determined. The aortic NF-kappaB level was analyzed with immunohistochemical assay. The expression of NF-kappaB (P65) mRNA in the aorta was detected with Real-time PCR.

RESULTSThe body weight in the normal control group was eventually heavier than others (P < 0.01). There was no difference among the four groups of GK modeled rats (P > 0.05). The FBG in the four GK modeled groups were higher than that in the normal control group (P < 0.01, P < 0.05). There was no statistical difference in the blood glucose level at the first visit and at the baseline among the GK modeled groups (P > 0.05). The last FBG level was obviously lower in the MET and DGR groups than in the MOD group (P < 0.01) and the SIM group (P < 0.05). Twenty-four weeks after intervention, the level of FBG, HbA1c, TC, LDL-C, HDL-C, and NF-kappaB positive expression rate of the thoracic aorta of the four groups of GK modeled rats, and NF-kappaB mRNA expression in the thoracic aorta in the MOD group, the MET group, and the DGR group were significantly higher than those in the normal control group (P < 0.01, P < 0.05). The TG level, serum ROS in the MET, DGR, and SIM groups, and the NF-kappaB mRNA expression level in the thoracic aorta in the SIM group were significantly lower than those in the normal control group (P < 0.01, P < 0.05). The levels of FBG, TC, LDL-C, serum ROS, NF-kappaB mRNA expression level in the thoracic aorta in three drug intervention groups, and NF-kappaB positive expression rate in the DGR and MET groups, and the levels of HbA1c, TG in the DGR group were significantly lower than those in the MOD group (P < 0.01, P < 0.05). The level of FBG in the MET and DGR groups were lower than that in the SIM group (P < 0.05). The level of NF-kappaB mRNA expression in the thoracic aorta of the SIM and DGR groups, and the levels of TC and LDL-C in the DGR group were significantly lower than those in the MET group (P < 0.01).

CONCLUSIONDGR played a role in preventing and treating chronic diabetic complications by comprehensively regulating blood glucose and serum lipids, as well as down-regulating oxidative stress.

Animals ; Aorta, Thoracic ; metabolism ; Atherosclerosis ; complications ; drug therapy ; metabolism ; Blood Glucose ; analysis ; Diabetic Angiopathies ; drug therapy ; metabolism ; Disease Models, Animal ; Drugs, Chinese Herbal ; therapeutic use ; Lipid Metabolism ; Male ; NF-kappa B ; metabolism ; Oxidative Stress ; Phytotherapy ; Rats ; Rats, Wistar ; Reactive Oxygen Species ; blood

OBJECTIVETo explore the clinical classification method of keloids and providing a thread for the treatment of keloids.

METHODSTo summarize the 600 cases of keloid patients we accepted and diagnosed from November 2004 to October 2012, and filling in keloid patients information sheet, recording the keloids form by photographs, analyzing the treatment, putting forward the classification method of keloids in clinic.

RESULTSAccording to the position and quantity that keloids grow, the keloid patients are divided into four major categories:one in single site, one in each site, more than one in single site and more than one in each site; According to the area and thickness of keloids, the keloid single lesion is divided into four subclasses: type of small area and thin, type of small area and thick, type of large areas and thin,type of large areas and thick; According to the number of lesions, keloid multiple lesions is divided into two subgenera: isolated multiple and dispersion multiple, different kinds of keloids suit different methods of treatment.

CONCLUSIONThe clinical classification method of keloids can be used to provide thought for the treatment of keloids, and have a good application value.

Humans ; Keloid ; classification ; pathology ; therapy

OBJECTIVETo evaluate the effect of importing triamcinolone acetonide into hypertrophic scars with skin roller needles.

METHODSThirty-two cases with burn hypertrophic scar were treated. The skin roller needles were moved back and forth on the hypertrophic scars with triamcinolone acetonide dropping on the scar surface at the same time. So the triamcinolone acetonide could be imported into the scar through needles and needle holes. The effect was evaluated as cured, effective, and no effect. The Vancouver scaring criteria and visual analogue scale was used to assess the scar color, thickness, texture and feeling before and after treatment, as well as at the untreated scar area (control).

RESULTSThirty-two cases were treated 1-3 times, including 28 cases with cured result and 4 cases with effective result. The total effective rate was 100%. The scar color, thickness, texture and feeling was significantly different between the scar before and after treatment, or between the treated and untreated scar (P < 0.05).

CONCLUSIONSImporting triamcinolone acetonide into hypertrophic scars with skin roller needles is effective. It is a new method for the treatment of large hypertrophic scar with medicine.

Burns ; complications ; Cicatrix, Hypertrophic ; drug therapy ; etiology ; Humans ; Injections, Intralesional ; instrumentation ; Needles ; Treatment Outcome ; Triamcinolone Acetonide ; administration & dosage

OBJECTIVETo access the prevalence of menopause-like symptoms, and their related factors in old and middle-aged males in the area of Hefei.

METHODSThis study included 1 026 males aged over 45 years that came to the clinic for health examination. We collected their personal data, and evaluated their general health status and the results of the questionnaire investigation using the Aging Males' Symptoms (AMS) scale.

RESULTSThe total incidence of menopause-like symptoms was 64.7% among the old and middle-aged males in Hefei area, of which 58.1% were mild, 30.9% moderate and 11.0% severe. The average AMS score was 31.2 +/- 6.8, in which the scores on psychological, physical and sexual function symptoms were 8.3 +/- 2.1, 12.4 +/- 4.8 and 9.3 +/- 4.5, respectively. Sexual function symptoms were increased significantly with the increase of age (P < 0.05), but psychological and physical symptoms showed no obvious correlation with age (P > 0.05). The main risk factors of menopause-like symptoms included age, smoking, diabetes, cardiovascular diseases, and obesity, but physical exercise was an important protective factor against them.

CONCLUSIONWith the increase of age, the prevalence of male menopause-like symptoms rises and sexual function declines gradually, but psychological and physical scores are not affected significantly. Age, general health status and lifestyle are closely associated with the prevalence of menopause-like symptoms among old and middle-aged males.

Aged ; Aged, 80 and over ; Aging ; Andropause ; China ; epidemiology ; Humans ; Incidence ; Life Style ; Male ; Middle Aged ; Prevalence ; Risk Factors ; Surveys and Questionnaires

BACKGROUNDTransforming growth factor-β1 (TGF-β1) is known to have a role in keloid formation through the activation of fibroblasts and the acceleration of collagen deposition. The objective of this current study was to isolate TGF-β1 phage model peptides from a phage display 7-mer peptide library to evaluate their therapeutic effect on inhibiting the activity of keloid fibroblasts.

METHODSA phage display 7-mer peptide library was screened using monoclonal anti-human TGF-β1 as the target to obtain specific phages containing ectogenous model peptides similar to TGF-β1. Enzyme-linked immunosorbent assay (ELISA) was performed to select monoclonal phages with good binding activity, which underwent DNA sequencing. MTT assay and apoptosis assessment were used to evaluate the biological effects of the phage model peptides on keloid fibroblasts. Immunofluorescence assay was employed to show the binding affinity of the model peptides on phages causing keloid fibroblasts. Quantitative real-time PCR analysis was carried out to detect the expressions of nuclear factor κB (NF-κB) mRNA, connective tissue growth factor (CTGF) mRNA and TGF-β receptor II (TβRII) mRNA in keloid fibroblasts.

RESULTSSpecific phages with good results of ELISA were beneficiated. Four phage model peptides were obtained. The data of MTT showed that TGF-β1 and one phage model peptide (No. 4) could promote keloid fibroblasts proliferation, however, three phage model peptides (No. 1 - 3) could inhibit keloid fibroblasts proliferation. The results of apoptosis assessment showed that the three phage model peptides could slightly induce the apoptosis in keloid fibroblasts. The data of immunofluorescence assay revealed that the model peptides on phages rather than phages could bind to keloid fibroblasts. The findings of quantitative real-time PCR analysis suggested that the expressions of NF-κB mRNA and CTGF mRNA in the three phage model peptide groups decreased, while the expression of TβRII mRNA slightly increased.

CONCLUSIONSThree phage model peptides isolated from a phage display 7-mer peptide library can inhibit keloid fibroblasts proliferation and induce the apoptosis in keloid fibroblasts. They can inhibit the activity of keloid fibroblasts by blocking TGF-β1 binding to its receptor and then regulating the expressions of NF-κB, CTGF and TβRII.

Apoptosis ; Cell Line ; Cell Proliferation ; drug effects ; Enzyme-Linked Immunosorbent Assay ; Fibroblasts ; cytology ; drug effects ; Fluorescent Antibody Technique ; Humans ; Peptide Library ; Peptides ; immunology ; pharmacology ; Polymerase Chain Reaction ; Transforming Growth Factor beta1 ; immunology

BACKGROUNDKeratinocyte growth factor (KGF) significantly influences epithelial wound healing. The aim of this study was to isolate KGF phage model peptides from a phage display 7-mer peptide library to evaluate their effect on promoting epidermal cell proliferation.

METHODSA phage display 7-mer peptide library was screened using monoclonal anti-human KGF antibody as the target. Enzyme linked immunosorbent assay (ELISA) was performed to select monoclonal phages with good binding activity. DNA sequencing was done to find the similarities of model peptides. Three-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide (MTT) assay, immunofluorescence assay and quantitative real-time PCR analysis were employed to evaluate the effect of the phage model peptides on epidermal cells.

RESULTSThirty-three out of fifty-eight (56.9%) of the isolated monoclonal phages exhibited high binding activity by ELISA. Ten of fifteen obtained phage model peptides were similar to KGF or epidermal growth factor (EGF). MTT assay data showed that four (No. 1 - 4) of the ten phage model peptides could promote epidermal cell proliferation. The expression of keratinocyte growth factor receptor (KGFR) mRNA in the KGF control group and the two phage model peptide groups (No. 1 and No. 2) increased. Expression of c-Fos mRNA and c-Jun mRNA in the KGF control group increased, but did not increase in the four phage model peptide groups (No.1 - 4).

CONCLUSIONFour phage model peptides isolated from the phage display 7-mer peptide library can safely promote epidermal cell proliferation without tumorigenic effect.

Cell Proliferation ; drug effects ; Cells, Cultured ; Enzyme-Linked Immunosorbent Assay ; Epidermis ; cytology ; Fibroblast Growth Factor 7 ; chemistry ; pharmacology ; Humans ; Peptide Library ; Peptides ; chemistry ; pharmacology ; Polymerase Chain Reaction ; Receptor, Fibroblast Growth Factor, Type 2 ; genetics

OBJECTIVETo investigate the relationship between the polymorphism of SG13S114 A/T in the 5-lipoxygenase-activating protein (ALOX5AP) gene and the stability of carotid atherosclerosis.

METHODSPolymorphism of SG13S114 A/T in the ALOX5AP gene was analyzed in 152 cases of acute infarction with stable plaque, and 132 cases of acute infarction with vulnerable plaques, by using polymerase chain reaction and restriction fragment length polymorphism. Carotid artery plaque was analyzed by carotid artery color ultrasound.

RESULTSThe frequencies of SG13S114 AA genotype and the A allele in the vulnerable plaque group were higher than that in the stable plaque group (P< 0.01).

CONCLUSIONThe polymorphism of SG13S114 A/T in the ALOX5AP gene may be associated with the instability of atherosclerosis. And the SG13S114 A allele may be a risk factor of vulnerable plaques.

5-Lipoxygenase-Activating Proteins ; Aged ; Aged, 80 and over ; Carotid Artery Diseases ; genetics ; Carrier Proteins ; genetics ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide

OBJECTIVETo investigate the rules of proliferation of epithelial cells of sweat glands in deep partial-thickness burn wound and its transdifferentiation towards epidermal cells during healing process to explore its mechanisms.

METHODSTwenty-eight patients with limbs and trunk burn hospitalized in the Fourth People's Hospital of Taizhou City of Jiangsu Province and the Second Hospital of Shandong University from January 2004 to December 2007 were enrolled in the study. Tissue samples of deep partial-thickness burn wound (DPBW, n = 37), superficial partial-thickness burn wound (SPBW, n = 21), and normal skin (NS, n = 10) were harvested. Expressions of cytokeratin 10 (CK10), bcl-2, P63, CK14 and CK19 of epithelial cells in glandular secretory portion (GSP) in DPBW, SPBW and NS were detected with immunohistochemical double staining method.

RESULTSIn NS, CK19, CK14 and CK10 expressed in medium intensity in GSP epithelial cells, P63 and CK14 weakly expressed in basal myoepithelial cells, while no expression of bcl-2 or P63 was observed in all CK10 positive terminally differentiated cells. In SPBW, no change of the construction of GSP and above-mentioned proteins during healing process was observed. In DPBW, as examined on 7(th) post burn day (PBD), expression of P63 and bcl-2 in GSP epithelial cells was enhanced. In DPBW on 8 - 10 PBD, bcl-2, P63, CK19 and CK14 strongly positive solid island-like epithelial structure was formed by proliferation, migration and squamous epithelization of basal cells. Such structure, along with granulation tissue, migrated towards the superficial layer of wounds. The hyperplasia of squamous epithelium resulted in complete reepithelialization. In DPBW, bcl-2, CK14, CK19 and P63 still strongly expressed in hyper-proliferative epidermal basal and suprabasal layers on 13 - 30 day after healing.

CONCLUSIONSDuring the natural healing process of DPBW, monolayer epithelium (CK19 and CK10 positive) of GSP slowly develops into stratified squamous epithelium (bcl-2, P63, CK19, and CK14 positive), suggesting that the epithelial-epidermal transdifferentiation of GSP undergoes slow retrodifferentiation process of stem cells and transient amplifying cells, resulting in the imbalance between lagged growth of epithelium and the hyperplasia of granulation tissue, constituting one of the important mechanisms of disturbance in DPBW repair.

Adolescent ; Adult ; Burns ; metabolism ; pathology ; Cell Differentiation ; Epithelial Cells ; metabolism ; Female ; Humans ; Keratin-10 ; metabolism ; Keratin-14 ; metabolism ; Keratin-19 ; metabolism ; Male ; Membrane Proteins ; metabolism ; Stem Cells ; metabolism ; Sweat Glands ; cytology ; metabolism ; Wound Healing ; Young Adult ; bcl-2-Associated X Protein ; metabolism