As a common clinical disease, fracture is often accompanied by pain, swelling, bleeding as well as other symptoms and has a high disability rate, even threatening life, seriously endangering patients' physical and psychological health and quality of life. Medical practitioners take many strategies for the treatment of fracture healing, including Traditional Chinese Medicine (TCM). In the early stage of fracture healing, the local fracture is often in a state of hypoxia, accompanied by the expression of hypoxia inducible factor-1α (HIF-1α), which is beneficial to wound healing. Through literature mining, we thought that hypoxia, HIF-1α and downstream factors affected the mechanism of fracture healing, as well as dominated this process. Therefore, we reviewed the local characteristics and related signaling pathways involved in the fracture healing process and summarized the intervention of TCM on these mechanisms, in order to inspirit the new strategy for fracture healing, as well as elaborate on the possible principles of TCM in treating fractures based on the HIF molecular mechanism.

Objective:To explore the characteristics of SLCO1B1/ SLCO1B3 gene variants among children with Rotor syndrome (RS). Methods:Four children who were admitted to the Department of Hepatology of Hunan Children′s Hospital between January 2019 and January 2022 were selected as the study subjects. Trio-whole exome sequencing was carried out for the four families, and gel electrophoresis was used to verify an insertional variant of long-interspersed element-1 (LINE-1).Results:Genetic testing has identified three variants of the SLCO1B1 gene, including c. 1738C>T (p.R580*), c. 757C>T (p.R253*) and c. 1622A>C (p.Q541P), and two variants of the SLCO1B3 gene, including c. 481+ 22insLINE-1 and c. 1747+ 1G>A among the children. Three of them were found to harbor homozygous variants of the SLCO1B1/ SLCO1B3 genes, and one has harbored compound heterozygous variants. Sanger sequencing confirmed the existence of all variants, and gel electrophoresis has confirmed the existence of the LINE-1 insertional variant of about 6 kb within intron 6 of the SLCO1B3 gene in all children. Conclusion:The pathogenesis of the RS among the four children may be attributed to the variants of the SLCO1B1/ SLCO1B3 genes. The LINE-1 insertion variant of the SLCO1B3 gene may be common among Chinese RS patients.

Epilepsy is a recurrent, transient seizure disorder of the nervous system that affects the intellectual development, life and work, and psychological health of patients. People with epilepsy worldwide experience great suffering. Stressful stimuli such as infection, mental stress, and sleep deprivation are important triggers of epilepsy, and chronic stressful stimuli can lead to frequent seizures and comorbidities. The hypothalamic-pituitary-adrenal (HPA) axis is the most important system involved in the body’s stress response, and dysfunction thereof is thought to be associated with core epilepsy symptoms and related psychopathology. This article explores the intrinsic relationships of corticotropin-releasing hormone, adrenocorticotropic hormone, and glucocorticoids with epilepsy in order to reveal the role of the HPA axis in the pathogenesis of epilepsy. We hope that this information will yield future possible directions and ideas for fully understanding the pathogenesis of epilepsy and developing antiepileptic drugs.

Objective To investigate the change in mucosal-associated invariant T (MAIT) lymphocytes in peripheral blood of children with metabolic associated fatty liver disease (MAFLD) and its clinical significance. Methods A total of 18 children with MAFLD who attended Hunan Children's Hospital from March to May, 2022, were enrolled as MAFLD group, and 20 normal children who attended the hospital during the same period of time were enrolled as control group. Peripheral blood samples were collected, and flow cytometry was used to measure the percentages of MAIT lymphocytes (CD3 + CDl61 + TCRVα7.2 + cells), different MAIT lymphocyte subsets (CD4 + CD8 - MAIT cells, CD4 - CD8 - MAIT lymphocytes, CD4 - CD8 + MAIT lymphocytes, and CD4 + CD8 + MAIT lymphocytes), and MAIT lymphocytes expressing PD-1, CD69, perforin, CD107α, CXCR3, CXCR6, and CCR6. The correlation of MAIT lymphocyte frequency with liver inflammation, fat content, and fibrosis degree was analyzed. The t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups. The Spearman correlation analysis was used for correlation analysis. Results Compared with the control group, the MAFLD group had significant increases in the percentage of MAIT lymphocytes in peripheral blood, the percentages of MAIT cells expressing PD-1, CD69, CD107α, CXCR3, CXCR6 and CCR6, and the percentages of CD4 + CD8 - MAIT cells and CD4 + CD8 + MAIT lymphocytes among MAIT cell subsets (all P < 0.05), as well as a significant reduction in the percentage of CD4 - CD8 + MAIT cells among MAIT cell subsets ( P < 0.001). The percentages of CD4 + CD8 + MAIT lymphocytes and CD107α-positive MAIT lymphocytes were negatively correlated with alanine aminotransferase ( r =-0.474 and -0.550, P =0.047 and 0.018). Conclusion The migration of peripheral blood MAIT lymphocytes to the liver plays a protective role against liver inflammation in children with MAFLD.

ObjectiveTo analyze the effects of different feeding patterns on the physical and nutritional status of children aged 6‒12 months， so as to provide reference for promoting scientific feeding and health development of infants and young children. MethodsChildren born between December 2019 and February 2020 and who had completed three follow-up visits at 6‒， 9‒ （8‒10 months） and 12‒ （11‒14 months） months old in all of the 13 communities of Minhang， Shanghai were selected. The subjects’ basic information was investigated by questionnaires. The indicators including feeding pattern， physical development （body weight， body length， head circumference） and nutritional status （the detection rate of overweight， obesity， low body weight， growth retardation， emaciation and iron deficiency anemia） were followed up in the outpatient department， with iron deficiency anemia only monitored at the 6‒ and 12‒ months old. According to different feeding patterns， the groups of 6‒ months old were divided into three groups of exclusive breast feeding （EBF）， mixed feeding （MF） and artificial feeding （AF）， while 9‒ and 12‒ months old were divided into MF and AF groups. The differences of basic information and follow-up results among the groups were analyzed. ResultsA total of 470 children were included， including 130 （27.66%）， 288 （61.28%） and 52 （11.06%） respectively in EBF， MF and AF groups at the 6‒ months old，and 319 （67.87%） and 196 （41.70%） in MF group at the 9‒ and 12‒ months old. There was no significant difference in the other follow-up results among the groups. The detection rate of iron deficiency anemia in 6‒ months old EBF （13.08%） was higher than that in MF group （5.90%） and AF group （1.92%） （χ²=8.40， P=0.010）， while it was still higher in 12‒ months old MF group （9.69%） than in AF group （2.92%） （χ²=9.68， P=0.002）. ConclusionThere is no significant difference in body weight，body length， head circumference， and the detection rates of overweight， obesity， low body weight， growth retardation and emaciation among the groups of different feeding patterns in the children aged 6‒12 months. The detection rate of iron deficiency anemia in the EBF and MF groups is significantly higher than that in the AF groups of children aged 6‒ and 12‒ months old.

In recent years,mechanical thrombectomy has been the most important research progress in the treatment of acute cerebral infarction,especially the positive results of five endovascular therapy studies in 2015 has rewritten its clinical guidelines.However,the focus of these studies was mainly on the small vessel infarction(SVI),and the inclusion criteria of these studies include the following aspects:ASPECTS ≥6 points,Alberta Stroke Program Early CT Score within 6 hours after stroke onset,the infarct volume＜70 mL within 6-24 hours after stroke onset,and the presence of image mismatch or the presence of mismatch between clinical condition and perfusion imaging.The above studies excluded patients with ASPECTS＜6 points or infarct volume ≥70 mL of large core infarction(LCI).With the continuous progress of the endovascular treatment of acute ischemic stroke(AIS),the mechanical thrombectomy therapy strategy has crossed from the"time window"to the"tissue window",meanwhile,the therapeutic goal of mechanical thrombectomy has also moved from treating SVI to a new era of treating LCI that has been a very hot topic recently.Whether endovascular treatment is beneficial for patients with LCI remains uncertain.This paper aims to make a comprehensive review concerning the relevant research progress in endovascular therapy for anterior circulation large core ischemic stroke,including the imaging determination and study inclusion criteria of LCI,the postoperative blood pressure management,and the factors influencing ineffective recanalization and prognosis.(J Intervent Radiol,2023,32:1256-1262)

Objective:To understand the clinical and genetic characteristics of hereditary spherocytosis (HS) combined with cholestasis among pediatric patients.Methods:12 cases of HS children accompanied by cholestasis at Hunan Children's Hospital were selected as the research subjects between January 2013 and December 2022. Clinical data were collected. Whole-exome sequencing was performed by second-generation sequencing. Suspected pathogenic mutation sites were verified by Sanger sequencing.Results:All pediatric patients were admitted to the hospital due to their yellow skin tone. Eight cases (66.67%) had a positive family history. The clinical manifestations were jaundice, splenomegaly (12/12), abdominal pain, anemia (4/12), and hepatomegaly (5/12). All pediatric patients had decreased hemoglobin, an increased reticulocyte ratio, total bilirubin and direct bilirubin, a positive erythrocyte fragility test, and remarkable spherical erythrocytes in their peripheral blood. Seven cases had elevated aminotransferase; four cases had severely elevated aminotransferase and bilirubin; eight cases had biliary calculi; and two cases had a dilated biliary tract. Liver pathological examination showed mild damage to the liver cells (G1S1) in three pediatric cases. Five children had a total of six unreported mutations: SPTB gene c.2431_2450del, c.4974-2A > G, c.2575G > A, and exon 22-35 deletion; ANK1 gene: c.2379-2380delC; and c .6dupC. Children still had abnormal bilirubin levels following treatment. Two pediatric cases underwent splenectomy. Bilirubin and hemoglobin levels returned to normal after surgery. Conclusion:Children with HS may experience cholestasis, and those with poor treatment results may consider undergoing a splenectomy. Six new types of variants have expanded the HS gene mutation spectrum.

OBJECTIVE: To explore the genetic basis for a child with infantile liver failure syndrome type 2 (ILFS type 2). METHODS: Clinical features of the child were analyzed. Next generation sequencing was also carried out for him. RESULTS: The child was found to harbor compound heterozygous variants of the NBAS gene, which included a novel nonsense c.2746A>T (p.R916X, 1456) variant in exon 24 and a missense c.3596G>A (p.C1199Y) mutation in exon 31, which has been associated with ILFS type 2. The two variants were respectively inherited from his father and mother. CONCLUSION The compound heterozygous variants of c.3596G>A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.
Child ; Exons/genetics* ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Liver Failure ; Male ; Mutation

Objective:To investigate the etiology, prognosis and prognostic factors of pediatric acute liver failure(PALF), in order to provide the basis for clinical treatment of PALF.Methods:The clinical data of children with PALF hospitalized at Hunan Children′s Hospital from May 2008 to May 2018 were collected, and the causes and prognosis were analyzed.According to the prognosis, the patients were divided into the death group and the survival group, whose biochemical indexes were then compared.After that, the statistical analysis of different data were carried out by using t-test, Wilcoxon test and χ2 test separately. Results:In 120 PALF cases, there were 68 males and 52 females, and there were 36 infants, 34 toddlers, 22 preschoolers and 28 school-age children.Twenty cases (16.7%) were caused by sepsis, 19 cases (15.8%) by genetic metabolic diseases, 18 cases (15.0%) by poisoning, 12 cases (10.0%) by viral infection, 6 cases (5.0%) by drugs, 1 case (0.8%) by bile polyp, and 1 case (0.8%) by tumor disease.Besides, the etiology of 43 cases (35.9%) was unknown.Among the cases with known etiologies, genetic metabolic and infectious diseases were the main cause of disease in infants, toddler patients were mostly caused by infectious diseases and drug/toxicants, and drug/toxicants and hereditary metabolic diseases were the dominant cause of disease in school-age children and preschoolers.Mortality rate of children with PALF was 50.0%.Among them, the mortality of Epstein-Barr virus-associated hemophagocytic syndrome, sepsis, Citrin deficiency and Tyrosinemia was higher than that of other diseases.Compared with the survival group, the total bilirubin (TB)[159.00(73.05, 274.00) μmol/L vs.62.75(2.65, 221.75)μmol/L], direct bilirubin(DB)[83.00(41.43, 160.00) μmol/L vs.38.74(10.98, 128.75) μmol/L], prothrombin time (PT)[39.60(24.93, 62.60) s vs.24.65(21.43, 29.83) s], international standardized ratio (INR)[3.40(2.30, 6.74) vs.2.09(1.85, 2.84)], and blood ammonia (NH 3) levels [109.50(85.25, 149.75) μmol/L vs.80.00(60.25, 102.75) μmol/L] in the death group were significantly increased, and the diffe-rences were statistically significant(all P<0.05); while the levels of albumin[(28.72±5.88) g/L vs.(33.69±4.96) g/L], alanine aminotransferase (ALT) [586.50(223.25, 1 082.00) U/L vs.1 434.00(615.00, 3 334.50) U/L]and aspartate aminotransferase (AST) [827.50(545.00, 2 024.00) U/L vs.1 663.50(821.00, 4 886.75) U/L]in the death group were significantly decreased, and the differences were statistically significant(all P<0.05). However, the blood glucose and cholesterol levels in both groups had no statistically significant difference. Conclusion:The mortality of children with PALF is high, and different age groups have different etiologies.The increase of TB, DB, PT, INR, NH3 and the ratio of hepatic encephalopathy, and the decrease of albumin, AST and ALT suggest poor prognosis.