Objective:To explore the clinical phenotype and genetic characteristics of a child with Hypotrichosis 14.Methods:A child who had presented at the Henan Provincial People′s Hospital on May 4, 2020 due to hair thinning was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples were collected from the child and her parents. Genomic DNA was extracted and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.Results:The child, a 5-year-old female, had presented with thin, soft lanugo-like hair which was easy to fall off. The child was found to harbor compound heterozygous missense variants of the LSS gene, namely c. 1609G>A (p.V537M) in exon 17 and c. 802T>G (p.F268V) in exon 8, which were respectively inherited from her father and mother. Both variant sites were highly conserved, though based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as variants of unknown significance (PM2_Supporting+ PP3+ PP4). Conclusion:The c. 1609G>A (p.V537M) and c. 802T>G (p.F268V) compound heterozygous variants of the LSS gene probably underlay the clinical phenotype in this patient.

Objective:To explore any effect of supplementing low-frequency repeated transcranial magnetic stimulation (rTMS) with intermittent resistance training on muscle tone and the recovery of motor function among persons with Parkinson′s disease (PD).Methods:A total of 104 PD patients were randomly divided into an observation group and a control group, each of 52. Both groups were treated with conventional drugs and low-frequency rTMS, while the observation group was additionally provided with intermittent resistance training for 8 weeks. Before and after the intervention, the motor functioning of both groups was evaluated using unified Parkinson′s disease rating scale-III (UPDRS-III) and the Berg Balance Scale (BBS). Limb muscle tension was quantified using the modified Ashworth scale (MAS). The subjects′ psychological states were quantified using the exercise self-efficacy scale (ESE), and the modified Barthel index (MBI) was applied to evaluate their ability in the activities of daily living. A 3D motion processing system collected and analyzed data describing each subject′s gait kinematics.Results:After the intervention, significantly greater average improvement was observed in all of the outcome measures among the observation group compared with the control group.Conclusion:Combining intermittent resistance training with low-frequency rTMS can significantly reduce muscle tone and improve the motor functioning of PD patients. The combination is more effective than low-frequency rTMS alone.

Objective: To study the effect of different proportions of piper chinaroot and rheum palmatum on the dissolution rate of five effective components (aloe emodin, emodin acid, emodin, emodin, emodin methyl ether). Methods: The high performance liquid chromatography (HPLC) method was used to analyz the contents of five effective components of rheum palmatum in the extracts of different combination of piper chinaroot and rheum palmatum. The tests were carried out by Thermo C18 (250 mm×4.6 mm, 5 μm) by gradient elution with methanol and 0.1% phosphoric acid water solution as mobile phase at a flow rate of 1ml/min, the column temperature was 30 ℃ and the detection wavelength was 254 nm. Results: The linear ranges of aloe emodin, emodin acid, emodin, emodin, emodin methyl ether were 0.018 5-0.741 8, 0.017 9-0.717 8, 0.015 9-0.635 5, 0.054 2-2.167 2, 0.016 2-0.646 4 μg, respectively. The average recoveries of aloe emodin, emodin acid, emodin, emodin, emodin methyl ether were 94.35%, 95.50%, 100.61%, 96.27%, 97.39%, and the RSDs were 1.81%, 1.99%, 2.84%, 2.71%, and 1.86%, respectively. Compared with rheum palmatumby single extract, the content of aloe emodin and emodin were increased by 5 proportions (3:1, 2:1, 1:1, 1:2, 1:3), while the content of emodin and emodin methyl ether were decreased. Conclusions The optimal compatibility proportion of piper chinaroot and rheum palmatum is 1:1.

Objective To evaluate the value of stroke prognostication using age and National Institute of Health Stroke Scale index (SPAN) for outcome after early endovascular treatment for anterior circulation large vessel occlusion.Methods The patients who underwent early endovascular treatment were prospectively,sequentially collected in Yijishan Hospital of Wannan Medical College from December 2014 to September 2017 and Jinling Hospital from March 2014 to March 2017.Individuals whose age in years plus NIHSS score was greater than or equal to 100 were designated as SPAN-100-positive patients,while those with a score less than 100 were designated as SPAN-100-negative patients.We compared the baseline data and perioperative data between the two groups.The 90 days modified Rankin Scale score≤2 was regarded as favorable outcome.Single factor and multivariable Logistic regression analyses were used to determine the association between SPAN-100 and outcomes.Results One hundred and ninety patients were enrolled,20 (10.5％) of which were SPAN-100 positive,and 170(89.5％) were SPAN-100 negative.There were no significant differences between the two groups on postoperative intracerebral hemorrhage and 90 days mortality.Ninety days independence rates were higher in SPAN-100-negative patients (77/170,45.3％) than in SPAN-100 positive patients (4/20,20.0％;x2 =4.681,P =0.030).Multi-factor Logistic regression analysis showed that the higher preoperation systolic pressure (OR =1.030,95％ CI 1.008-1.052,P =0.007),the lower Alberta Stroke Program Early CT Score (OR =1.609,95％ CI 1.056-2.453,P =0.027) and poor collateral circulation(OR =5.714,95％ CI 1.668-19.570,P =0.006) were the independent risk factors of outcomes.Conclusion SPAN-100 is not an independent predictor of favorable outcome after adjusting for factors of outcomes in patients with anterior circulation large vessel occlusion.

Objective: To assess the effectiveness in optimizing resources and shortening critical children′s waiting time in pediatric emergency department (PED) with five-level pediatric emergency triage system (PETS). Methods: This retrospective study was conducted in the First Affiliated Hospital of Xiamen University after PETS was applied. The data of patients who visited the pediatric emergency department from January 2015 to December 2017 were collected and analyzed, including age, sex, diseases, visiting time, triage rate and destination. Results: A total of 375 985 patients were included, among whom males were 225 308 (59.9%) and females were 150 677 (40.1%), all younger than 14 years of age. The number of critical cases (level Ⅰ, level Ⅱ and level Ⅲ) was increased from 4 719 (3.7%) in 2015, 12 209 (10.2%) in 2016 to 16 188 (12.7%) in 2017. The number of non-critical patients (level Ⅴ) decreased year by year, as from 98 213 (76.8%) in 2015 to 75 210 (62.6%) in 2016 and 78 857 (61.7%) in 2017. The patients who classified as level Ⅰ or levelⅡaccording to the PETS were seen immediately by physician (n=1855, 0.5%). Overall, 119 738 patients (98.3%) who were classified as level Ⅲ or level Ⅳ could be seen by physician in a timely manner according to triage guidelines, while 2 112 patients (1.7%) could not. The mean waiting time was 9.09 min in level Ⅲ, 17.7 min in level Ⅳ, and 55.76 min in level Ⅴ patients, respectively. The critical cases admitted to the intensive care units were 175 (36.2%) in 2015, 350 (62.8%) in 2016 and 374 (66.2%) in 2017. The etiologies were respiratory diseases (73.3%), gastrointestinal diseases (15.8%) and infectious diseases (3.1%). Conclusion The application of PETS could optimize emergency resources and shorten the waiting time of critically ill children.

Objective To analyze the relationship between the expression of WT1 gene in bone marrow mononuclear cells and the cytogenetic characteristics, curative effect and prognosis in patients with myelodysplastic syndromes (MDS). Methods The quantitative expression of WT1 gene was detected by real-time quantitative polymerase chain reaction (RQ-PCR) in bone marrow mononuclear cells of 115 MDS patients who were admitted to Taixing People's Hospital from August 2010 to March 2018, and the relationship between the expression of WT1 gene and the cytogenetic characteristics, curative effect and prognosis were evaluated. Results WT1 gene was highly expressed in 80 cases (69.6 %), lowly expressed in 15 cases (13.0 %), and unexpressed in 20 cases (17.4 %). Of the 80 patients with high WT1 expression, 56 cases (70.0 %) were refractory anemia with excess blasts (RAEB), and 22 cases (27.7 %) were refractory cytopenia with multilineage dysplasia (RCMD). In 55 patients with very poor cytogenetic prognosis, 44 patients had high expression of WT1 gene, and in 28 patients with poor prognosis, 19 patients had high expression of WT1 gene. The complete remission rate of WT1 gene high expression group [12.5 % (10/80)] was lower than that of low expression group [26.7 % (4/15)] and unexpressed group [40.0 % (8/20)], and the difference of complete remission rate between the three groups was statistically significant (χ2＝ 8.96, P< 0.05). Conclusion MDS patients with high expression of WT1 gene have low remission rate and poor prognosis.

Objective To observe the effects of mild hypothermia on the myocardial mitochondrial injury induced by oxidative stress after restoration of spontaneous circulation (ROSC) in rat of cardiac arrest model.Methods Eighteen male Wistar rats were randomly (raudom number) divided into normal temperature group and mild hypothermia group after ROSC.Ultrasound was used to measure the left ventricular ejection fraction (EF),shortening fraction (FS) and stroke volume (SV).The levels of glutathione (GSH),malondialdehyde (MDA) and adenosine triphosphate (ATP) in myocardium were detected.The ultramicroscopic structure of myocardial mitochondria was observed under transmission electron microscope at 4 h after ROSC.Results There were no significant differences in basic life support (BLS) time,dosage of epinephrine and number of defibrillation attempt between two groups (P ＞ 0.05).The concentrations of GSH and ATP in myocardium of rats in hypothermia group were significantly higher than those in normal temperature group,while the level of MDA was significantly lower in hypothermia group than that in normal temperature group.Echocardiographic findings showed that hypothermia could significantly improve the EF,FS and SV after ROSC.The hypothermia decreased the myocardial mitochondria injury rather than normothermia [mitochondrial injury score:(0.21-±0.04) vs.(0.42 ±0.08),P ＜ 0.05].Conclusions In this model,mild hypothermia can decrease myocardial oxidative stress injury,improving the cardiac function after ROSC.

Objective To explore the effects of estrogen on oxidative stress of the lung tissue induced by acute paraquat (PQ) poisoning. Methods Thirty-two male adult New Zealand rabbits were randomly divided into model group and estrogen intervention group, 16 rabbits in each group. The model of lung injury induced by PQ poisoning was reproduced by feeding 16 mg/kg of 20% PQ through gastric tube. The rabbits in estrogen intervention group received intravenous infusion of 5 mg/kg estrogen after PQ challenge for 7 days, and the rabbits in model group received an equal volume of normal saline. Three rabbits in each group were sacrificed at 1, 2 and 3 days respectively after exposure. The lung tissue was harvested, the levels of reactive oxygen species (ROS) was determined by 2',7'-dichlorofluorescin diacetate (DCFH-DA), malondialdehyde (MDA) was determined by thiobarbituric acid (TBA), the mRNA expression of manganese-containing superoxide dismutase (MnSOD) was determined by reverse transcription-polymerase chain reaction (RT-PCR), and adenosine triphosphatase (ATP) content in mitochondrion was determined by enzyme linked immunosorbent assay (ELISA). The pathological changes in lung were observed under light microscopy using hematoxylin and eosin (HE) staining, and the lung injury was evaluated with lung injury score. Results The contents of ROS and MDA in lung within 3 days after PQ poisoning were gradually increased, and MnSOD mRNA expression and ATP content were gradually decreased. Estrogen intervention could significantly reduce the production of ROS and MDA after PQ poisoning [3-day ROS (fluorescence intensity): 161.05±30.04 vs. 188.30±31.80, 3-day MDA (mmol/L): 98.71±0.92 vs. 122.12±1.24], up-regulate MnSOD mRNA expression (integral A value: 3.05±0.90 vs. 1.22±0.24), and increase ATP content in mitochondrion (ng/L: 3.75±0.92 vs. 2.28±0.29) with statistically significant differences (all P < 0.01). In lung tissue after PQ poisoning, congestion, edema, focal pulmonary consolidation, pulmonary interstitial and alveolar space were infiltrated by a large number of neutrophil, alveolar interval were thickened obviously and the above phenomenon were most serious at 3 days after poisoning as shown under optical microscope. Estrogen intervention could significantly improve lung injury as compared with that of model group, and the lung injury score at 3 days was significantly lower than that of model group (11.8±0.7 vs. 13.5±1.0, P < 0.01). Conclusions The oxidative stress indicators in the lung tissue after PQ poisoning were obviously abnormal, the pathological damage was serious with time dependence. The administration of estrogen can reduce acute lung injury after PQ poisoning by reducing the oxidative stress.

Objective To study the expression and significance of Neogenin,Hepcidin and serum ferritin(SF)in patients with cancer-related anemia.Methods To test the serum levels of Neogenin,Hepcidin and SF in 107 cases,including 55 cases with cancer-related anemia and 52 cases of non-anemia with tumor by ABC-ELISA.Results ①The serum levels of Neogenin in patients with cancer-related anemia were 0.77 ± 0.45 ng/ml,which were lower than 0.98 ± 0.60 ng/ml in non-anemia group (t=2.003 8,P <0.05).The serum levels of Hepcidin in patients with cancer-related anemia were 6.03±4.25 μg/ml, which was higher than 4.51±2.23 μg/ml in non-anemia group (t=2.319 5,P <0.05).②There were no difference in pa-tients between anemia and non-anemia (t=1.898 0,P >0.05).③In patients with cancer,there were positive correlation be-tween Neogenin and Hb (r=0.212 4,t=2.226 4,P <0.05),there were negtive correlation between Hepcidin and Hb (r=-0.310 1,t=3.345 2,P <0.01),but there were no correlation between SF and Hb (P >0.05).④There were positive cor-relation between Hepsidin and SF (r=0.486 6,P <0.01).Conclusion There were lower expression of Neogenin,higher ex-pression of Hepcidin in patients with cancer-related anemia is a complex process.The abnormal expression of Neogenin and Hepcidin which were lead to the loss of use of iron are the key factors attribute to anemia in patients with cancer.