BACKGROUND:Carboxymethyl chitosan (CMCS),a chitin derivative,has a good application performance that makes it become a safe and effective hemostatic material.OBJECTIVE:To determine the hemostatic effect of CMCS and its biosecurity properties.METHODS:(1) CMCS powder was scattered on the caudal vein and liver wounds of Sprague-Dawley rats,and the hemostatic time was recorded as experimental group,while the time for natural haemostasis of the wound was recorded as control group.(2) CMCS powder was scattered on the tail,femoral artery and liver wounds of ICR mice,and the hemostatic time was recorded as experimental group,while the time for natural haemostasis of the wound was recorded as control group.(3) CMCS,Sodium dodecyl sulfate solution and distilled water were respectively applied on the skin of albino rabbits in a skin irritation test.(4) A delayed-type hypersensitivity test of CMCS was carried out by intradermal injection of CMCS in guinea pigs.(5) An intradermal irritation test was carried out by subcutaneous injection of normal saline containing CMCS and normal saline,respectively.Another intradermal irritation test was carried out by subcutaneous injection of the supernatant of CMCS olive oil extract and olive oil,respectively.RESULTS AND CONCLUSION:(1) Compared with the control group,the hemostatic time for caudal vein and liver wounds were significantly shortened in the Sprague-Dawley rats in the experimental group (P ＜ 0.01).(2) Compared with the control group,the time of hemostasis on the tail,femoral artery and liver wounds was significantly shortened in the ICR mice in the experimental group (P ＜ 0.05 or P ＜ 0.01).(3) The CMCS had no irritation to the skin of albino rabbits and no allergic reaction to the skin of guinea pigs.To conclude,the CMCS has good hemostatic effect on the wound in Sprague-Dawley rats and ICR mice,and has no skin irritation,allergic reactions and intradermal irritation reactions in albino rabbits and guinea pigs,which is a relatively safe hemostatic material.

Objective To evaluate the application value of low-dose CT (LDCT) in physical examination for coal miners with different exposure time.Methods The consecutive three-year imaging data of 972 coal miners with over 20-year exposure were retrospectively reviewed.All miners were divided into 3 groups according to different exposure time,including 317 cases with less than 10 years,299 cases with 10-20 years and 356 cases with more than 20 years.All subjects underwent LDCT examination every year during three consecutive years.Results Baseline LDCT:As the exposure time was prolonged (with less than 10 years,10-20 years and more than 20 years),the number of coal miners has increased with non-calcified pulmonary nodules,interstitial pulmonary lesions,clinically cured or stable stage of pulmonary tuberculosis,pulmonary calcification and pulmonary fibrous stripes,but without statistically significant difference.The detection rates of lung bullae,aorta and coronary artery sclerosis were also increased mildly,with the prolonged exposure time.There was no significant correlation between exposure time and detection rates of bronchiectasis,pulmonary inflammatory lesions,lymph node enlargement or calcification,pleural lesions.The exposure time of 6 cases of malignant nodules and 2 cases of active tuberculosis was more than 10 years.During a two-year follow-up using LDCT scan,there were no significant changes in most of intrapulmonary,pleural and mediastinal lesions.Neither were in pulmonary nodules less than or equal to 4 mm.Three pulmonary nodules with 4-8 mm diameters were enlarged.Most of the inflammatory lesions have changed in size.Conclusion The LDCT scan has a certain value for chest physical examination of the coal miners with different exposure time.It is very necessary to screen the high-risk population of coal miners with exposure time of more than 10 years using LDCT.LDCT reexamination has significant value for pulmonary nodules and inflammatory lesions with diameter of more than 4 mm.Most of intrapulmonary,pleural and mediastinal lesions have no obvious change in the short term,and make an annual reexamination unnecessary,neither does a negative baseline LDCT.

Dravet syndrome is a rare and severe developmental epileptic encephalopathy with variable clinical phenotypes.Dravet syndrome is difficult to diagnose and treat, and related comorbidities have a profound impact on the long-term quality of life of patients and their parents.SCN1A is the main pathogenic gene of Dravet syndrome, and SCN1A mutations are found in more than 85% of the patients.In recent years, with the development of genetic testing technology and the accumulation of cases, the understanding of the characteristics of epileptic seizures, comorbidities and SCN1A gene mutation characteristics in Dravet syndrome has gradually deepened.In addition to conventional antiepileptic drugs, new antiepileptic drugs(cannabidiol, fenfluramine)have also shown good antiepileptic effects and are expected to become second-line drugs for the treatment of Dravet syndrome seizures.This article mainly reviews the research progress of unique clinical phenotype, SCN1A gene mutation characteristics and new antiepileptic drugs of Dravet syndrome, in order to deepen clinicians′ understanding of the disease.

Abnormal expression and dysfunction of voltage-gated Calcium channels (VGCCs) can give rise to a variety of neurological disorders in children, including epilepsy, migraine and ataxia.In the past, only CACNA1A, CACNA1H, CACNA2D2 and CACNB4 were considered associated with epilepsy in children.In recent years, an increasing number of VGCCs gene associated with epilepsy in children have been found, especially developmental and epileptic encephalopathy genes.This study aims to review the research progress of VGCCs gene mutations associated with epilepsy in children.

OBJECTIVETo confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes.

METHODSCytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed.

RESULTSFor case 1, the karyotype was 46,XY,r(22)(p11q13). SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33. For case 2, the karyotype was 46,XY,r(22)(p11q13)[84]/45,XY,-22[6]; SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.

CONCLUSIONWith combined application of genetic testing, 2 cases of r(22) syndrome were diagnosed, which has improved the understanding of the genotype-phenotype correlation of r(22).

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 22 ; genetics ; Genetic Testing ; Humans ; Male ; Nerve Tissue Proteins ; genetics ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Ring Chromosomes

OBJECTIVETo identify the small supernumerary marker chromosomes (sSMC) and guide the genetic counseling and medical treatment in two patients with Turner syndrome.

METHODSHigh resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed to the two patients.

RESULTSThe karyotypes of the two patients were 45, X [29]/46,X, +mar[31] and 45,X[71]/46,X, +mar[29] respectively. SRY test indicated SRY-positive for patient 1, whose sSMC was originated from chromosome Y. The karyotype was confirmed as 45,X[29]/46,X,idic(Y)(q10)[31]. ish idic(Y)(q10)(RP11-115H13x2) (SRY+) by FISH. While in patient 2, the sSMC was originated from chromosome X, whose karyotype was determined as 45, X[71]/46,X, r(X)(p11.23q21)[29]. ish r(X) (p11.23q21)(AL591394.11xAC092268.3).

CONCLUSIONUsing cytogenetic and molecular cytogenetic analyses, we have identified the sSMCs in two patients with Turner syndrome, which was helpful to the clinical diagnosis and treatment.

Adolescent ; Child ; Chromosomes, Human, X ; genetics ; Chromosomes, Human, Y ; genetics ; Female ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Turner Syndrome ; genetics

Objective:To explore the impact of King's theory of goal attainment combined with goal setting on the effect of standardized training of general practitioners.Methods:A total of 39 general practitioners who underwent the standardized training in The Fifth Affiliated Hospital of Xinjiang Medical University from January 2019 to January 2020 were classified as control group, and traditional teaching was adopted. Another 42 general practitioners who underwent the training in The Sixth Affiliated Hospital of Xinjiang Medical University during the same period were classified as a research group, and the teaching based on King's theory of goal attainment combined with goal setting was adopted. The theoretical knowledge and operational skills scores, changes in clinical comprehensive ability before and after the training, and teaching recognition were compared between the two groups. SPSS 25.0 was used for t test and chi-square test. Results:After the training, the scores of theoretical knowledge and operation skills of the research group were both higher than those of the control group [(92.83±5.62) vs. (85.47±12.11); (90.15±7.22) vs.(83.36±11.24)]. There was no significant difference between the two groups in the scores of inquiry and communication ability, problem-solving ability, general medical thinking ability, interpretation ability of auxiliary examination results, clinical analysis and decision-making ability, team cooperation ability, community common disease diagnosis and treatment ability and humanistic care ability before the training ( P>0.05); the above scores were all improved after the training ( P<0.05), and the above scores of the research group were significantly higher than those of the control group ( P<0.05). The total recognition of teaching in the research group was 95.24%(40/42), which was significantly higher than that 76.92%(30/39) in the control group ( P<0.05). Conclusion:The application of King's theory of goal attainment combined with goal setting in standardized training of general practitioners can effectively improve the level of general practitioners' theoretical knowledge, operational skills, clinical comprehensive ability and recognition of teaching.

OBJECTIVEPrevious studies have demonstrated that two homozygous missense MYO1E mutations are associated with childhood autosomal recessive focal segmental glomerulosclerosis in steroid-resistant nephrotic syndrome (SRNS) families from Italy and Turkey. Non-disease-causing heterozygous MYO1E variants were also found in other SRNS patient cohorts. However, the role of MYO1E mutations in Chinese sporadic SRNS has not been established.

METHODPeripheral blood samples were collected for genetic analysis from 54 children with sporadic SRNS in Chinese Han ethnic group and a normal control group of 59 healthy adult volunteers. None of the patients carried mutations in NPHS2 or WT1. Genomic DNA was extracted from peripheral blood leukocytes. Twenty-eight exons and exon-intron boundaries of the MYO1E gene were amplified by polymerase chain reaction. Mutational analysis was performed by direct DNA sequencing and restriction endonuclease digestion.

RESULTFifty-one variants in the MYO1E gene were identified in 54 children with sporadic SRNS. Among them, 10 MYO1E mutations of IVS1-11T>C, IVS2-86T>A, 279T>C (D93D), IVS6-181G>A, 718C>T (L240F), 1678A>G (T560A), IVS16-35A>G, IVS18+48T>A, IVS19+38G>A and IVS25+13C>T were detected in 11 patients, whereas they were absent in the 59 normal Chinese controls. Forty-one variants in MYO1E were identified and all of them were published in single nucleotide polymorphism database from national center for biotechnology information. Furthermore, all the 10 MYO1E mutations were in heterozygous states.

CONCLUSIONMYO1E mutations are not a major cause of Chinese children with sporadic SRNS in the study.

Adolescent ; Case-Control Studies ; Child ; Child, Preschool ; China ; ethnology ; DNA Mutational Analysis ; Ethnic Groups ; genetics ; Exons ; Female ; Humans ; Infant ; Male ; Mutation ; genetics ; Myosin Type I ; genetics ; Nephrotic Syndrome ; congenital ; ethnology ; genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic