Spinal cord injury represents a severe central nervous system trauma characterized by prolonged treatment duration, limited neural regeneration, and delayed functional recovery, greatly affecting patients′ quality of life. The impaired neural tissue struggles to recover effectively due to both the hostile microenvironment and its own compromised state. Current clinical interventions, including early reduction, laminectomy decompression, and intravenous or intrathecal methylprednisolone administration, fail to simultaneously modulate the microenvironment and improve the neural status. Zinc, a trace element abundant in the central nervous system, plays a critical role in gene expression regulation, synaptic plasticity, and neuronal activity. Clinical evidences have indicated that lower serum zinc concentration in patients with spinal cord injury correlates with poorer outcomes and animal experiments have also demonstrated the neuroprotective effects of zinc. In fact, zinc supplementation therapy has not yet been developed into a mature clinical protocol. Besides, related animal studies still lack comprehensive understanding. To this end, the authors reviewed the biological characteristics of zinc, its administration routes, neuroprotective effects and mechanisms in the management of spinal cord injury, aiming to provide references for future basic research and clinical practice.

Spinal cord injury represents a severe central nervous system trauma characterized by prolonged treatment duration, limited neural regeneration, and delayed functional recovery, greatly affecting patients′ quality of life. The impaired neural tissue struggles to recover effectively due to both the hostile microenvironment and its own compromised state. Current clinical interventions, including early reduction, laminectomy decompression, and intravenous or intrathecal methylprednisolone administration, fail to simultaneously modulate the microenvironment and improve the neural status. Zinc, a trace element abundant in the central nervous system, plays a critical role in gene expression regulation, synaptic plasticity, and neuronal activity. Clinical evidences have indicated that lower serum zinc concentration in patients with spinal cord injury correlates with poorer outcomes and animal experiments have also demonstrated the neuroprotective effects of zinc. In fact, zinc supplementation therapy has not yet been developed into a mature clinical protocol. Besides, related animal studies still lack comprehensive understanding. To this end, the authors reviewed the biological characteristics of zinc, its administration routes, neuroprotective effects and mechanisms in the management of spinal cord injury, aiming to provide references for future basic research and clinical practice.

BACKGROUND:Currently,electrospun nanofibers,which are biomimetic materials of natural extracellular matrix and contain a three-dimensional network of interconnected pores,have been successfully used as scaffolds for various tissue regeneration,but are still faced with the challenge of extending the biomaterials into three-dimensional structures to reproduce the physiological,chemical as well as mechanical properties of the tissue microenvironment. OBJECTIVE:To summarize the process and principles of electrostatic spinning and to explore the applications of the resulting electrospun nanofibers in tissue regeneration of skin,blood vessels,nerves,bone,cartilage and tendons/ligaments. METHODS:With"electrospinning,electrospun nanofibers,electrospun nanofiber scaffolds,tissue regeneration"as the Chinese and English search terms,Google Academic Database,PubMed,and CNKI were searched,and finally 88 articles were included for review. RESULTS AND CONCLUSION:(1)The electrospun nanofibers are a natural fibrous extracellular matrix mimetic material and contain a three-dimensional network of interconnected pores that have been successfully used as scaffolds for a variety of tissue regeneration applications.(2)Several papers have described the great potential of electrospun nanofiber scaffolds applied to the regeneration of skin,blood vessels,nerves,bones,cartilage and tendons/ligaments,providing a solid theoretical basis for its final application in clinical disease treatment,or for its transformation into practical products to enter the market.(3)However,the current research results are mostly based on cell experimental research results in vitro,and whether it can be finally applied to human body still needs clinical verification.(4)At present,many kinds of electrospun products for various clinical needs have been commercialized in and outside China,indicating that the research field of electrospun nanofiber scaffolds for soft and hard tissue regeneration has great research value and application potential.

Objective:To explore the relationship between low serum albumin levels and its duration on first episode of peritonitis in peritoneal dialysis (PD) patients.Methods:PD patients who were regularly followed up in the Pearl River Delta region from September 1, 2000 to July 6, 2021 in Shunde Hospital of Southern Medical University, Nanfang Hospital of Southern Medical University, and Foshan First People′s Hospital were retrospectively selected. The patients were divided into low serum albumin group (LSA group, mean albumin<35 g/L), moderate serum albumin group (MSA group, 35 g/L≤mean albumin<40 g/L) and high serum albumin group (HSA group, mean albumin≥40 g/L) according to the mean albumin of the patients, and the differences among the three groups were compared. The Kaplan-Meier survival analysis method was used to compare the risk of peritonitis events in different mean albumin groups and different durations of hypoalbuminemia. The multivariate Cox regression model was used to analyze the relationship between serum albumin levels and duration of hypoalbuminemia and new-onset peritonitis.Results:A total of 1 853 PD patients were included in this study, aged (49.72±15.34) years, and 1 036(55.9%) males. There were 551 patients (29.7%) in the LSA group, 920 patients (49.7%) in the MSA group, and 382 patients (20.6%) in the HSA group. The median follow-up was 37 (15, 66) months and there were 508 patients (27.4%) with new-onset peritonitis during the follow-up. Compared with the LSA group, the incidence of new peritonitis in the MSA group and HSA group was lower ( χ2=14.053, P<0.001; χ2=21.857, P<0.001), but there was no significant difference in the incidence of new peritonitis between the HSA group and MSA group. The Kaplan-Meier survival analysis showed that the cumulative incidence of peritonitis in the LSA group was significantly higher than that in the MSA group and HSA group (Log-rank χ2=22.128, P<0.001). Compared with PD patients with normal serum albumin, the patients with longer duration of hypoalbuminemia tended to have a higher incidence of new peritonitis. Multivariate Cox regression analysis showed that the mean albumin<35 g/L (LSA group/MSA group, HR=1.495, 95% CI 1.198-1.866, P<0.001; LSA group/HSA group, HR=1.459, 95% CI 1.104-1.928, P=0.008) was an independent risk factor of new-onset peritonitis in PD patients and the prolongation of duration of hypoalbuminemia had a significantly higher risk of new-onset peritonitis ( HR=1.013, 95% CI 1.003-1.024, P=0.014). Conclusion:The mean albumin<35 g/L and prolong duration of hypoalbuminemia are independent risk factors of PD-related peritonitis in PD patients.

Objective:To explore the relationship between metabolic acidosis and cardiac valve calcification in maintenance hemodialysis (MHD) patients in the Pearl River Delta Region.Methods:Patients on MHD greater than 3 months who were treated in 10 blood purification centers in the Pearl River Delta Region from July 1 to September 30, 2019 were selected for this multicenter cross-sectional study. Based on a Doppler ultrasound, MHD patients were further divided into non-valve calcification group and valve calcification group. The demographics data, frequency of dialysis, blood pressure, single pool Kt/V(spKt/V), dialysis medications and laboratory data were collected and compared. Spearman correlation analysis was used to analyze the correlation between serum carbon dioxide combining power (CO 2CP) and cardiac valve calcification. Multivariate logistic regression model was used to analyze the influencing factors of cardiac valve calcification. Results:A total of 664 MHD patients were included in this study, with age of (57.0±14.2) years old and dialysis age of 43.0 (22.3, 71.7) months, including 395 males (59.5%) and 269 females (40.5%). Among them, there were 119 patients (17.9%) with diabetes and 186 patients (28.0%) with dialysis 2 times per week. There were 329 patients (49.5%) in the valve calcification group, and 335 patients (50.5%) in the non-valve calcification group. Compared to those in non-valve calcification group, valve calcification group had longer duration of dialysis, higher proportion of patients with dialysis 2 times per week, higher levels of diastolic blood pressure, fasting blood glucose, intact parathyroid hormone and ferritin, higher proportion of patients with blood CO 2CP<19 mmol/L (median CO 2CP), higher proportion of patients on usage of calcium channel blocker, angiotensin converting enzyme inhibitor/angiotensin receptor blocker, α-receptor blocker, β-receptor blocker, calcitriol and lanthanum carbonate (all P<0.05), while the levels of spKt/V, hemoglobin, serum CO 2CP, corrected calcium, blood phosphorus, blood alkaline phosphatase, albumin, total cholesterol, triacylglycerol, low-density lipoprotein, high-density lipoprotein, transferrin saturation, and the proportion of patients on usage of sevelamer and cinacalcet were lower (all P<0.05). Spearman analysis showed significant negative correlation between serum CO 2CP and valve calcification ( rs=-0.697, P<0.001). Multivariate logistic regression analysis showed that dialysis performed twice a week ( OR=2.789, 95% CI 1.232-6.305, P=0.014), blood total cholesterol ( OR=1.449, 95% CI 1.014-2.071, P=0.042), CO 2CP<19 mmol/L ( OR=22.412, 95% CI 10.640-47.210, P<0.001) were the influencing factor of valve calcification in MHD patients. Conclusions:MHD patients with cardiac valve calcification have significant acid loading. Metabolic acidosis is an independent influencing factor for cardiac valve calcification in MHD patients.

OBJECTIVE: To report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5. METHODS: Clinical data and genetic results were collected and analyzed. Peripheral blood samples of the child and their parents were collected for whole exome sequencing, and the functional effect of the variants on the TPK1 enzyme activity was verified by an in vitro assay. RESULTS: A four-year-old boy presented with preschool onset of ataxia were characterized. High-throughput sequencing identified a novel homozygous variant of TPK1 gene c.382G>A (p.Leu128Phe). His father and mother were both found carrying the variant. The variant protein showed a 30.9% reduction in TPK1 enzyme activity compared with the wildtype. CONCLUSION A novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.
Child, Preschool ; Genetic Testing ; Homozygote ; Humans ; Male ; Mutation ; Thiamine ; Whole Exome Sequencing

Objective:To explore the clinical characteristics and gene variation of primary coenzyme Q10 deficiency-7 (COQ10D7) in children.Methods:Clinical data and genetic tests results of a COQ10D7 child caused by coenzyme Q4 (COQ4) gene variation at the First Affiliated Hospital of Xiamen University in March 2020 were collected and analyzed. A literature search with "primary coenzyme Q10 deficiency" or "COQ4 gene" as the keyword was conducted at Wanfang database, China national knowledge infrastructure(CNKI), PubMed, online Mendelian inheritance in man(OMIM), ClinVar database (up to April 2020), the clinical characteristics and gene variation of children with primary COQ10D7 were summarized.Results:A 5-month-old boy was diagnosed as "epilepsy" because of intermittent epileptic seizures in three months. He had feeding difficulties, growth retardation, hypotonia of limbs and increased lactic acid. His whole exon gene testing suggested a homozygous variation of COQ4 gene (c.370G>A). One article in Chinese and 9 articles in English were found, which made up the complete case data of 33 patients (including our case). There were 12 missense variations, 2 frameshift variations, 1 splicing variation, 1 nonsense variation and 1 deletion variation, among these variations c. 370G>A was found only in children in southern China.The age of onset was mostly in the neonatal period (22 cases). Among all patients, 20 cases had presented neonatal respiratory distress or respiratory insufficiency, 21 cases had seizures, 20 cases had hypertrophic cardiomyopathy, and 26 cases had elevated serum lactic acid or lactic acidosis. Brain dysplasia, brain atrophy, basal ganglia and other lesions were observed on brain magnetic resonance imaging in 28 cases. Most of them had a poor prognosis with a mortality rate of 20/33. The age of death ranged from 4 hours to 42 months old.Conclusions:The main clinical phenotypes of primary COQ10D7 are neonatal respiratory distress or respiratory insufficiency, epilepsy, myocardial hypertrophy and lactic acid elevation. Primary COQ10D7 is caused by homozygous or compound heterozygous variation in the COQ4 gene, and c.370G>A may be the hotspot variation in children in southern China.

Objective: To explore the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms and toxicity of Methotrexate(MTX) chemotherapy in pediatric acute lymphoblastic leukemia (ALL). Methods: From January 2015 to June 2018, 128 pediatric patients with ALL in southern Fujian who were admitted at the First Affiliated Hospital of Xiamen University were selected.Their peripheral blood 2 mL was collected and genomic DNA was extracted.The MTHFR genotype was detected by polymerase chain reaction(PCR) direct sequencing method, and the clinical significance of HD-MTX on ALL children with toxic and side effects was evaluated according to the National Cancer Institute-Common Toxicity Criteria. Results: Among 128 children, 54 cases(42.2%) presented rash, 48 cases (37.5%)with mucosal lesions, 51 cases (39.8%) with liver function damage, 23 cases (18.0%) with renal function damage, 52 cases (40.6%) with gastrointestinal reactions, 38 cases (29.7%)with leukopenia, 34 cases (26.6%) with thrombocytopenia and 63 cases (49.2%) with hemoglobin reduction.There was no significant difference in the incidence of MTX adverse reactions (rash, mucosa lesions, liver and renal function damage, gastrointestinal reaction, leukopenia, hemoglobin decrease and thrombocytopenia) between the MTHFR C677T and A1298C polymorphisms (all P>0.05). The different clinical risk (MTX dose) of the children was not statistically signi-ficant in the MTHFR C677T and A1298C genotypes and allele frequencies (χ²=2.573, 2.264, 1.615, 0.267; all P>0.05). There was no significant difference among the abnormal incidence of MTX at 24 h, 48 h and 72 h (all P>0.05). Conclusions MTHFR C677T and A1298C polymorphisms do not seem to be good markers of MTX-related toxicity and/or outcome in pediatric ALL in southern Fujian, and its clinical application still needs further discussion.

Objective To investigate the clinical treatment strategy of large and giant pituitary adenomas invading the cavernous sinus.Methods One hundred and nine patients with large and giant pituitary adenomas invading the cavernous sinus,admitted to our hospital from January 2010 to December 2018,were chosen in our study.Four patients with prolactin-type pituitary adenomas received oral treatment with bromocriptine;the remaining 105 patients received surgical treatment,and choices of surgical approach were based on classification of pituitary adenomas.The clinical data and efficacies of these patients accepted different treatment approach were retrospectively analyzed.Results Of the 105 patients with pituitary adenomas,63 (60％) were of type Ⅰ,15 (14.3％) were of type Ⅱ,18 (17.1％)were of type Ⅲ,and 9 (8.6％) were of type Ⅳ.Single extended transsphenoidal approach was used in 75 patients,transcranial approach was used in 26 patients,and combined extended transsphenoidal and transcranial approach was used in 4 patients.Gross total tumor resection was achieved in 86 patients,subtotal resection in 17 patients,and partial resection in two patients.Ten patients had new cranial nerve palsy after surgery,including 7 with oculomotor nerve palsy and three with abductor nerve palsy;two patients with preoperative neurological paralysis were aggravated,and both of them were oculomotor nerves;transient insipidus was noted in 19 patients and electrolyte disorder was noted in 23 patients;no permanent insipidus,cerebrospinal fluid leakage or intracranial infection,and no new or aggravated visual field vision disorder were noted.Conclusion Reasonable clinical treatment strategies and appropriate microsurgical approaches can achieve good therapeutic effect in patients with large and giant pituitary adenomas invading the cavernous sinus.

OBJECTIVETo explore the value of baseline serum alkaline phosphatase (ALP) for predicting 2-year fracture in patients with chronic kidney disease (CKD) on maintenance dialysis.

METHODSA total of 139 patients with CKD undergoing maintenance dialysis in our hospital were enrolled in this study. According to the median serum ALP level, the patients were divided into high ALP and low ALP groups. The demographic and clinical data of the patients including dialysis duration, serum calcium level, serum phosphorus level, and serum intact parathyroid hormone level were recorded, and their bone mineral density of the femur and the lumbar spine was measured using dual energy X-ray absorptiometry. The patients were followed up for 2 years and fracture events were recorded. The risk factors of fracture were analyzed using logistic regression analysis, and their predictive value for fracture was analyzed using receiver-operating characteristic (ROC) curve.

RESULTSThe mean baseline serum ALP level was 132.55±167.68 U/L in these patients, significantly higher than that in the normal population (=2.816, =0.006). Baseline serum ALP level was negatively correlated with the bone mineral density of the lumbar spine (=-0.203, =0.006) and the femur (=-0.196, =0.021). Fractures occurred in 21 (15.1%) of the patients during the 2-year follow-up, and the fracture rate was significantly higher in patients with high ALP levels. Logistic regression analysis identified serum ALP level as an independent risk factor of fracture (OR: 1.010, =0.001, 95%CI: 1.004-1.016). The areas under the ROC curve were 0.900 and 0.768 for serum ALP level and intact parathyroid hormone level in predicting 2-year fractures, respectively.

CONCLUSIONSSerum ALP may serve as a good indicator for predicting 2-year fractures in patients with CKD on maintenance dialysis.