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The growth plate (cartilage tissue) is the key to bone development and linear growth.However, as the adolescence proceeds, the proliferation capacity of the growth plate will be continuously consumed, and finally the growth plate will be closed.A variety of regulatory factors control chondrocyte proliferation and differentiation through different mechanisms.Endocrine regulators (including growth hormone, insulin-like growth factor, thyroxine, sex hormone, glucocorticoid, etc.) and transcription factors play an important role in regulating the development of growth plates through systematic modulation.In addition, such local regulatory factors as Indian hedgehog protein, parathyroid hormone-related peptide, bone morphogenetic protein and fibroblast growth factor also regulate the development of the growth plate.In this paper, the regulatory mechanism for chondrocyte proliferation and differentiation was summarized.
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OBJECTIVE@#To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS).@*METHODS@#The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2).@*CONCLUSION@#The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Subject(s)
Child , Female , Humans , Family , Mutation , RecQ Helicases/genetics , Rothmund-Thomson Syndrome/genetics , Exome SequencingABSTRACT
Nonalcoholic fatty liver disease(NAFLD)has become one of the great risks for children′s development and health, while its pathogenesis and progression characteristics are still not clear.The establishment of NAFLD specific research model can help to explore and reveal the role of related pathways in the occurrence and development of NAFLD.The existing models for the study of NAFLD in children mainly include diet-induced animal models and in vitro hepatocyte culture models.In recent years, organoids cultured from stem cells have similar spatial tissues of corresponding organs and can reproduce some functions of corresponding organs, which can be used to simulate liver inflammation and fibrosis process.In this paper, we will introduce these models and methods, focus on the construction and application of organoids, and look forward to the application of models for children NAFLD in the future.
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To report the process of diagnosis and treatment of 1 case with SRY gene mutation of 46, XY complete gonadal dysplasia, and to discuss the clinical characteristics, diagnosis and treatment of the disease.Due to clitoral enlargement for 8 months, a 9 years old girl was admitted to the Children′s Hospital Affiliated to Zhejiang University School of Medicine.Previously, she had early breast development, and suffered from high gonadotropin expression when she was 6 years and 4 months old.Physical examination: breast B3 stage, female vulva, clitoris hypertrophy, normal urethra, normal vaginal opening, slightly thick hymen ring, the development of pubic hair was 2 stages, and Prader score level 1.Laboratory data showed elevated levels of estradiol, testosterone, and human chorionic gonadotrophin.Genetic examination revealed that the chromosome karyotype was 46, XY and SRY gene detection was positive.Therefore, the patient was diagnosed with 46, XY complete gonadal dysplasia.Bilateral gonadectomy was performed, and the posto-perative pathological diagnosis was bilateral gonadoblastoma with left dysgerminoma.The tumor did not recur after che-motherapy.The etiology of early breast development needs to be carefully identified.Patients with sexual characteristics dysplasia need to accept the chromosome karyotype analysis and gene detection, and surgical exploration should be performed when necessary for a correct diagnosis as soon as possible.
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Gonadotropin-releasing hormone (GnRH) dependent precocious puberty/central precocious puberty (GDPP/CPP) is one of the common diseases of the pediatric endocrine system.CPP is mainly treated with gonadotropin-releasing hormone analogues (GnRHa) internationally.They slow the progression of bone age and improve adult height in children with CPP by inhibiting the activity of the hypothalamic-pituitary-gonadal axis and the secretion of sex hormones.In clinical practice, the populations who benefit from GnRHa treatment and the best GnRHa treatment plan still need to be investigated, and the long-term efficacy and safety evidence of GnRHa should be further improved.
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The prevention and control of 2019 novel coronavirus (2019-nCoV) is currently the primary task of all industries in China. The virus infection is mainly transmitted by respiratory droplets, airborne and close contact. Pediatric foreign body in the respiratory tract is a common otorhinolaryngology emergency, especially occurred in 1-3 years old children, and usually causes airway obstruction, suffocation and pneumonia, which may become an acute threat to life. The principle treatment in otorhinolaryngology emergency room is direct laryngoscope, bronchoscope and foreign body removal. Due to the close contact between the relevant medical staff and child during the operation, a large number of droplets and aerosols can be produced during the reactive cough of the child. Combined with the characteristics of the operation, this article intends to provide advices on diagnosis and treatment of airway foreign body removal for pediatric otorhinolaryngology colleagues during the prevention and control of 2019-nCoV. Adjustments could be made subsequently due to changes of the epidemic situation and the recognition of 2019-nCoV.
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Type 1 diabetes(T1D)is and organ-specific autoimmune disease resulting from immune-mediated loss of pancreatic beta cells leading to insulin deficiency and hypoglycemia.It is the most common form of diabetes in children, and its incidence is on the rise.The etiology of T1D is hypothesized to involve genetic and environmental factors that result in the T-cell mediated destruction of pancreatic beta cells.The process usually progresses over a period of many months to years, during which period patients are asymptomatic and euglycemic, but positive for relevant autoantibodies.Symptomatic hyperglycemia and frank diabetes occurs after a long latency period, which reflects the large percentage of beta cells that need to be destroyed before overt diabetes become evident.We here will present genetic, enterovirus and gut microbiome factors that affect the pathogenesis of type 1 diabetes, which may help detect possible prevention and treatment of type 1 diabetes in the future.
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Laboratory testing plays an important role in the diagnosis and treatment of patients with Novel Coronavirus pneumonia. However, the lack of understanding of the virus in the early stage led to great difficulties in biosafety protection for clinical laboratories. Based on the latest researches and findings about the virus, this paper provides some personal opinions on the biosafety prevention in clinical laboratorians under epidemic condition for the reference of laboratory workers.
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The prevention and control of 2019 novel coronavirus (2019-nCoV) is currently the primary task of all industries in China. People can be infected through respiratory droplets, airborne and close contact. Pediatric airway foreign body is a common otorhinolaryngology emergency, especially occurred in 1 to 3-year-old children. It usually causes complications like airway obstruction, suffocation and pneumonia, which may become an acute threat to life. The common practice in otorhinolaryngology emergency room is to perform direct laryngoscope, bronchoscope and foreign body removal. Medical staff need to be closely contacted with these children during surgical operation, who may produce massive droplets and aerosols during examination. With a combination of characteristics of surgical operation, this article intends to provide advices on diagnosis and treatment of airway foreign body removal for pediatric otorhinolaryngology colleagues during the prevention and control of 2019-nCoV. Adjustments could be made subsequently due to changes of the epidemic situation and the recognition of 2019-nCoV.
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The pneumonia caused by the novel coronavirus (2019-nCoV), which began in December 2019, has become the most serious public health problem, threatening people's health and life. This threat is posing a severe challenge on the diagnosis and treatment of 2019-nCoV infection, the prevention and control of hospital cross infection of medical staff. It is suggested that in addition to strengthening the organization and leadership of the abovementioned work, establishing and improving the prevention and control mechanism deserve greater attention. Furthermore, special attention should be given to the safety of the medical staff, strengthening their infection monitoring and outbreak management. Medical staff in different work areas and positions should be placed under careful protection, cleaning and disinfection measures. The protection during specimen collection, transportation and medical waste management should also be prioritized. This paper also put forward management suggestions for the outpatient department, isolation ward and other key departments. These measures are proposed to provide a guidance for the prevention and control of 2019-nCoV nosocomial infection in the pediatric outpatient and ward.
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December 2019 witnessed the outbreak of COVID-19 in Wuhan, Hubei province of China, which soon spread nationwide and across national borders to pose a menacing pandemic threat. Children are themselves highly susceptible to infectious diseases in normal times not to mention an epidemic. Coupled with the high incidence of seasonal influenza, it is imperative to strengthen epidemiological screening of children, along with effective isolation, treatment, prevention and control measures. In view of the specifics of the hospital, the authors proposed to further improve the medical emergency procedure, for strictly enforcing screening and isolation regulations, and standardizing medical procedure. They also proposed scientific layout and use of the infection wards. All these measures are designed to control the epidemic and protect the safety of children, families and medical staff.
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The epidemic of COVID-19 has become the topmost public health threat worldwide. The authors suggested that in addition to strengthening the organization and leadership of the abovementioned work, greater attention be paid to establishing and improving the prevention and control mechanism.Furthermore, special efforts should be given to the safety of the medical workers, by strengthening their infection monitoring and outbreak management. Medical workers in different work areas and positions should be placed under careful protection with due cleaning and disinfection measures. The protection during specimen collection, transportation and medical waste management should also be prioritized. Such special issues in the management of pediatric patients, as allocation of nurses, the screening and management of caregivers, the problem of breastfeeding, and the disinfection of children′s toys and diapers were discussed. This paper also put forward management suggestions for the outpatient department, isolation ward and other key departments, which aim to guide the prevention and control of COVID-19 nosocomial infection in the pediatric outpatient and ward.
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Laboratory testing plays an important role in the diagnosis and treatment of patients with novel coronavirus pneumonia. However, the lack of understanding of the virus in the early stage led to great difficulties in biosafety protection for clinical laboratories. Based on the latest researches and findings about the virus, this paper provides some personal opinions on the biosafety prevention in clinical laboratorians under epidemic condition for the reference of laboratory workers.
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The coronavirus disease 2019 (COVID-19) has caused a global pandemic. All people including children are generally susceptible to COVID-19, but the condition is relatively mild for children. The diagnosis of COVID-19 is largely based on the epidemiological evidence and clinical manifestations, and confirmed by positive detection of virus nucleic acid in respiratory samples. The main symptoms of COVID-19 in children are fever and cough; the total number of white blood cell count is usually normal or decreased; the chest imaging is characterized by interstitial pneumonia, which is similar to other respiratory virus infections and infections. Early identification, early isolation, early diagnosis and early treatment are important for clinical management. The treatment of mild or moderate type of child COVID-19 is mainly symptomatic. For severe and critical ill cases, the oxygen therapy, antiviral drugs, antibacterial drugs, glucocorticoids, mechanical ventilation or even extracorporeal membrane oxygenation (ECMO) may be adopted, and the treatment plan should be adjusted timely through multi-disciplinary cooperation.
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Child , Humans , Betacoronavirus , Coronavirus Infections , Diagnosis , Pathology , Therapeutics , Pandemics , Pneumonia, Viral , Diagnosis , Diagnostic Imaging , Pathology , TherapeuticsABSTRACT
Coronavirus disease 2019 (COVID-19) is a grade B infectious disease caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). In pace with the spreading of the disease, biosafety risk of the biological specimen preservation in biobanks has been significantly increased and biosafety protection during biological specimen preservation become increasingly important. According to the related national rules and the corresponding guidelines of Chinese Medical Association, this paper introduced the etiology about SARS-CoV-2, epidemiology about COVID-19, and the biosafety protection principles of individuals and biological specimen storage places in the process of personal protection, protection of collection, transport, handling, preservation, detection, post-detection disposal and emergencies of biological specimen. Emphasized to carry out a strict biosafety-risk assessment on biological specimen basing on virus load information, infectivity, and sample type (possible contact transmission, aerosol transmission, and fecal oral transmission).
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Humans , Betacoronavirus , Containment of Biohazards , Reference Standards , Coronavirus Infections , Epidemiology , Pandemics , Pneumonia, Viral , Epidemiology , Prevalence , Risk Assessment , Specimen Handling , Reference StandardsABSTRACT
Objective@#To explore the feasibility of gender assignment in 46,XY disorders of sex development (DSD) with severe undermasculinisation mainly based on molecular diagnosis.@*Methods@#A retrospective study of 45 patients of 46, XY DSD with severe undermasculinisation were admitted between November 2015 and October 2018 at Children′s Hospital, Zhejiang University School of Medicine. The initial social gender were all female, of whom the external genital manifestations were Prader 0 to 2; the degree of masculinity was scored using external masculinisation score (EMS); the position and development of the gonads were examined by ultrasound, cystoscopy and laparoscopy, also including assessing the development of the Wolffian tube and the Müllerian tube. The level and ratio of testosterone to dihydrotestosterone before and after hCG stimulation were evaluated for the function of Leydig cell and 5α-reductase-2. Gender role scales and sandbox games were used to assess gender role behavior. Genital sensitivity to androgen stimulation was assessed; A panel including 163 genes related to gender development were determined by second-generation sequencing in all 45 patients. Finally, a multidisciplinary team (MDT) makes a gender assignment after a comprehensive analysis mainly based on the molecular etiological diagnosis.@*Results@#Thirty-nine out of 45 patients (87%) had an identifiable genetic etiology, and the remaining 6 (13%) were negative for genetic testing. Forty-five patients had EMS less than or equal to 3 points. Sexual psychological assessment was performed in 39 patients, with male dominance in 24 (62%) and female dominance in 15 (38%). The gender assignment was 23 cases (51%) for male and 19 cases (42%) for female, and 3 cases (7%) were not completely determined.@*Conclusions@#Molecular diagnosis provides a strong basis for appropriate gender assignment of 46, XY DSD children with severe undermasculinisation. Based on molecular diagnosis, each DSD should be analyzed by professional MDT to analyze the clinical symptoms/signs, gonadal development, gonad tumor risk, external genital morphology, sexual psychological assessment, potential fertility opportunities, parental views, Social and cultural factors, etc. make appropriate gender assignment.
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Objective To explore the significance of the cut point of peak level of luteinizing hormone (LH) in gonadotropin-releasing hormone (GnRH) agonist test in the diagnosis of precocious puberty in obese girls.Methods According to the diagnostic criteria of children's central precocious puberty diagnosis consensus (2015),796 cases of precocious puberty (peak level of LH ≥3.3 IU/L) in Children's Hospital of Zhejiang University School of Medicine from January 2014 to December 2015 were divided into normal weight group (573 cases),overweight group (170 cases) and obesity group (53 cases).The 3 groups were compared in terms of basic level of LH,basic level of follicle stimulating hormone (FSH),peak level of LH and FSH,ratio of LH (peak)/FSH (peak),sex hormone binding protein (SHBG),and children with 3.3 IU/L ≤peak level of LH ＜5.0 IU/L were followed up.The accuracy of the diagnosis of central precocious puberty using peak level of LH was analyzed by using receiver operating characteristic (ROC) curve.Results The median of LH (peak) in the obese group was 6.92 IU/L,the median of SHBG was 46.52 nmol/L,the median of LH (peak) in normal weight group was 8.92 IU/L,and the median of SHBG was 87.28 nmol/L.There were significant differences between the 2 groups (P ＜ 0.05,0.001).A total of 89 cases in normal weight group and 65 cases of obesity/overweight group (3.3 IU/L ≤peak level of LH ＜5.0 IU/L) were followed up for 1 year,and 18 cases in normal weight group and 33 cases in obesity/overweight group developed to central precocious puberty,while the number of cases in the 2 groups was significantly different (P ＜0.001).The ROC curve analysis showed that the cut point of peak level of LH was 4.16 IU/L,the sensitivity was 0.606,the specificity was 0.656,and the Jordan index was the largest (0.344).Conclusions The peak level of LH in GnRH agonist test is important for the diagnosis of central precocious puberty in girls,but the effect of body mass index on its cut point needs to be considered.
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Metabolic syndrome has become a global epidemic that adversely affects human health. Both genetic and environmental factors contribute to the pathogenesis of metabolic disorders; however, the mechanisms that integrate these cues to regulate metabolic physiology and the development of metabolic disorders remain incompletely defined. Emerging evidence suggests that SWI/SNF chromatin-remodeling complexes are critical for directing metabolic reprogramming and adaptation in response to nutritional and other physiological signals. The ATP-dependent SWI/SNF chromatin-remodeling complexes comprise up to 11 subunits, among which the BAF60 subunit serves as a key link between the core complexes and specific transcriptional factors. The BAF60 subunit has three members, BAF60a, b, and c. The distinct tissue distribution patterns and regulatory mechanisms of BAF60 proteins confer each isoform with specialized functions in different metabolic cell types. In this review, we summarize the emerging roles and mechanisms of BAF60 proteins in the regulation of nutrient sensing and energy metabolism under physiological and disease conditions.
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Humans , Chromatin Assembly and Disassembly , DNA-Binding Proteins , Metabolism , Disease , Metabolism , Nutrients , Metabolism , Signal TransductionABSTRACT
Objective To evaluate the value of serum uric acid(UA)levels with reference to the age,waist circumference,and body mass index(BMI)in predicting the metabolic syndrome(MS)in obese children.Methods A total of 300 obese children,including 180 boys and 120 girls,were enrolled in this study.The height,BMI,waist and hip circumference,blood pressure,serum glucose,insulin and lipid profile in all participants were measured.Oral glucose tolerance test and insulin releasing test were performed.The boys or girls were divided into 4 groups according to the 4 quantile of UA level,respectively.The clinical characteristics and correlation of UA with the clinical indexes and MS components were compared.The binary Logistic regression analysis was applied in the risk of MS and its components for the 4 groups of obese children.The area under the receiver operating characteristic curve(ROC curve)of UA level,age,waist circumference and BMI were used to predict the MS.Results UA level was increased with the increase of age,waist circumference and BMI,and the UA level was significantly correlated with triacylglycerol,postprandial 2 h glucose(2 h PG)(r=0.196,0.174 in boys;r=0.291,0.179 in girls).In boys,the adjusted odds ratio and 95％CI of the highest quartile of UA for triglyceridemia was 2.71(95％CI:0.77-9.58);which in girls,the adjusted odds ratio and 95％CI of the highest quartile of UA for hyperglycemia,hypertension were 8.45(95％CI:1.76-40.52)and 3.93(95％CI:0.66-23.33),respectively,with significant differences.In boys,the area under the ROC curve of UA level,age,waist circumference and BMI which predict the MS were 0.652 0.626,0.621,0.62,respectively,and the differences were significant(all P<0.05).Conclusions The UA level is significantly correlated with the composition of MS,UA detection combining with reference to the age,waist circumference,and BMI is helpful for the identification of high risk groups of metabolic syndrome.
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Objective@#To investigate the effect of calcium-independent phospholipase A2 (iPLA2) inhibitor in reducing hepatocyte lipoapoptosis and improving insulin resistance.@*Methods@#A total of 28 male Sprague-Dawley rats were randomly divided into the following three groups: 12 rats in group I (normal control group) were given normal diet for 18 weeks; 8 rats in group II (non-alcoholic fatty liver disease model group) were given high-fat diet for 18 weeks; 8 rats in group III (iPLA2 inhibitor group) were given high-fat diet for 18 weeks and intraperitoneal injection of the iPLA2 inhibitor bromoenol lactone 150 μg/kg once every other day since week 15 (14 times of injection in total). All the rats were sacrificed at the same time, and body weight and liver weight were measured. Blood lipids, serum enzymes, fasting blood glucose, fasting insulin, free fatty acid, and serum iPLA2 concentration were measured in each group, and liver pathological changes were evaluated. The terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling was used to measure the level of hepatocyte apoptosis and the apoptotic index was calculated. Quantitative PCR was used to measure the mRNA expression of iPLA2. The Student-Newman-Keuls test and the chi-square test were used for comparison of parameters between groups I, II, and III. P < 0.05 was considered statistically significant.@*Results@#Compared with group I, group II had significant increases in triglyceride (0.75±0.05 mmol/L vs 1.20±0.13 mmol/L, P < 0.05), cholesterol (1.50±0.12 mmol/L vs 2.94±0.34 mmol/L, P < 0.05), low-density lipoprotein (0.65±0.06 mmol/L vs 1.30±0.16 mmol/L, P < 0.05), free fatty acid (0.58±0.09 mEq/L vs 0.80±0.20 mEq/L, P < 0.05), fasting blood glucose (4.85±0.22 mmol/L vs 6.94±0.65 mmol/L, P < 0.05), and fasting insulin (0.89±0.52 mmol/L vs 1.29±0.52 mmol/L, P < 0.05), and a significant reduction in the insulin sensitivity index (0.52±0.21 vs 0.27±0.11, P < 0.05); group II also had significant inflammation and fatty degeneration shown by liver pathology, and compared with group I, group II had significant increases in apoptotic cells and apoptotic index (0.58%±0.17% vs 39.69%±4.96%, P < 0.05). Compared with group I, group II had significant increases in serum iPLA2 concentration (2.92±0.08 ng/ml vs 3.28±0.14 ng/ml, P < 0.05) and the mRNA expression of iPLA2 in the liver (1.07±0.18 vs 7.68±0.49, P < 0.05). Compared with group II, group III had a lower level of hepatocyte apoptosis, a significant reduction in apoptotic index (39.69%±4.96% vs 24.80%±2.53%, P < 0.05), significant reductions in serum iPLA2 concentration (3.28±0.14 ng/ml vs 2.64±0.24 ng/ml, P < 0.05) and the mRNA expression of iPLA2 in the liver (7.68±0.49 vs 2.60±0.36, P < 0.05), significant reductions in fasting insulin (1.29±0.52 mmol/L vs 0.80±0.09 mmol/L, P < 0.05) and fasting blood glucose (6.94±0.65 mmol/L vs 5.18±0.35 mmol/L, P < 0.05), and a significant increase in insulin sensitivity index (0.27±0.11 vs 0.45±0.09, P < 0.05).@*Conclusion@#There is a significant increase in the expression of iPLA2 in rats with non-alcoholic fatty liver disease, and iPLA2 inhibitor can reduce hepatocyte lipoapoptosis and improve insulin resistance.