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1.
J Med Virol ; 92(11): 2804-2812, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32542750

RESUMO

A pandemic of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection broke out all over the world; however, epidemiological data and viral shedding in pediatric patients are limited. We conducted a retrospective, multicenter study, and followed-up with all children from the families with SARS-CoV-2 infected members in Zhejiang Province, China. All infections were confirmed by testing the SARS-CoV-2 RNA with real-time reverse transcription PCR method, and epidemiological data between children and adults in the same families were compared. Effect of antiviral therapy was evaluated observationally and fecal-viral excretion times among groups with different antiviral regiments were compared with Kaplan-Meier plot. By 29 February 2020, 1298 cases from 883 families were confirmed with SARS-CoV-2 infection and 314 of which were families with children. Incidence of infection in child close contacts was significantly lower than that in adult contacts (13.2% vs 21.2%). The mean age of 43 pediatric cases was 8.2 years and mean incubation period was 9.1 days. Forty (93.0%) were family clustering. Thirty-three children had coronavirus disease 2019 (20 pneumonia) with mild symptoms and 10 were asymptomatic. Fecal SARS-CoV-2 RNA detection was positive in 91.4% (32/35) cases and some children had viral excretion time over 70 days. Viral clearance time was not different among the groups treated with different antiviral regiments. No subsequent infection was observed in family contacts of fecal-viral-excreting children. Children have lower susceptibility of SARS-CoV-2 infection, longer incubation, and fecal-viral excretion time. Positive results of fecal SARS-CoV-2 RNA detection were not used as indication for hospitalization or quarantine.


Assuntos
COVID-19/epidemiologia , Fezes/virologia , SARS-CoV-2/fisiologia , Eliminação de Partículas Virais , Adolescente , Antivirais/uso terapêutico , COVID-19/transmissão , Portador Sadio/epidemiologia , Portador Sadio/virologia , Criança , Pré-Escolar , China/epidemiologia , Família , Feminino , Hospitalização , Humanos , Incidência , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , SARS-CoV-2/patogenicidade
2.
BMC Urol ; 20(1): 161, 2020 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-33059661

RESUMO

BACKGROUND: Tubularized incised plate (TIP) urethroplasty is the most commonly performed procedure for hypospadias. Several flap procedures have been recommended to decrease the postoperative complication rate in TIP repair, but no single flap procedure is ideal. This study aimed to compare the outcomes of dartos fascia (DF) and tunica vaginalis fascia (TVF) as intermediate layers in TIP urethroplasty. METHODS: We searched PubMed, EMBASE, the Cochrane Library, Web of Science, clinicaltrials.gov, and other sources for comparative studies up to April 16, 2020. Studies were selected by the predesigned inclusion criteria. The primary outcomes were postoperative complications. The secondary outcomes were functional and cosmetic outcomes. RESULTS: The pooled RR with 95% CI were calculated. We extracted the relevant information from the included studies. Only 6 comparative studies were included. No secondary outcomes were reported. The RR of the total complications rate for DF was 2.41 (95% CI 1.42-4.07, P = 0.0001) compared with TVF in TIP repair. For each postoperative complication, the RRs were 6.48 (2.20-19.12, P = 0.0007), 5.95 (1.13-31.30, P = 0.04), 0.62 (0.25-1.52, P = 0.29), and 0.75 (0.23-2.46, P = 0.64) for urethrocutaneous fistula, prepuce-related complications, meatal/urethral stenosis, and wound-related complications, respectively. CONCLUSIONS: This meta-analysis reveals that compared to DF, TVF is a better option in TIP repair in terms of decreasing the incidence of the total postoperative complications, urethrocutaneous fistula, and prepuce-related complications. However there is limited evidence for functional and cosmetic outcomes. Overall, larger prospective studies and long-term follow-up data are required to further demonstrate the superiority of TVF over DF. TRIAL REGISTRATION: PROSPERO CRD42019148554.


Assuntos
Hipospadia/cirurgia , Uretra/cirurgia , Criança , Pré-Escolar , Fasciotomia , Humanos , Lactente , Masculino , Testículo/cirurgia , Resultado do Tratamento , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(3): 226-230, 2020 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-32204758

RESUMO

Since December 2019, the outbreak of coronavirus disease (COVID-19) has become the most serious public health issue. As the special population with immature immune function, newborns with COVID-19 have been reported. Newborns with suspected or confirmed COVID-19 should be transferred to designated hospitals for isolation treatment. An emergency transfer response plan for newborns with COVID-19 has been worked out. This plan puts forward the indications for neonatal COVID-19 transfer, organization management, protection strategies for medical staff, work procedures, and disinfection methods for transfer equipment, in order to provide guidance and suggestions for the inter-hospital transfer of suspected or confirmed neonatal COVID-19.


Assuntos
Infecções por Coronavirus , Pneumonia Viral , Betacoronavirus , COVID-19 , Hospitais , Humanos , Recém-Nascido , SARS-CoV-2
4.
Pediatr Diabetes ; 20(7): 861-870, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31408243

RESUMO

OBJECTIVE: To evaluate ß-cell function in obese children and adolescents meeting clinical criteria for isolated obesity (iOB), isolated components of dysmetabolism (cMD), or metabolic syndrome (MS), and in obese children and adolescents with normal glucose tolerance (NGT), impaired glucose regulation (IGR), or type 2 diabetes (T2DM). STUDY DESIGN: We undertook a prospective study of Han Chinese children and adolescents aged 8-16 years (median 11 ± 1.4) seen in an obesity clinic between May 2013 and 2018. Patients were classified as iOB (53), cMD (139), and MS (139) groups based on clinical criteria. The same patients were also classified as NGT (212), IGR (111), or T2DM (8) based on results of an oral glucose tolerance test (OGTT). The MS patients were classified as NGT [MS](59) and IGR [MS](72) for the further study. All participants also completed a mixed-meal tolerance test (MMTT). RESULTS: Compared with the iOB group, the MS group had significantly higher area under the curve of C-peptide up to the 2 hours (AUC CP) (P = .03) and peak C-peptide (P = .03), adjusted for BMI, age and Tanner stage, on MMTT. However, there was no difference in the insulinogenic index (ΔI30/ΔG30) or oral disposition index (oDI) derived from the OGTT among the three groups. However, 52% of participants with MS had IGR, compared to 28% in the cMD group. Compared with the NGT group, the individuals with IGR had significantly lower ΔI30/ΔG30 (P = .001) and oDI (P < .001). Compared with the iOB group, the NGT[MS] had significantly higher AUC CP (P = .004), peak C-peptide (P = .004) and ΔI30/ΔG30 (P = .007) adjusted for age, but no difference in oDI. Compared with the NGT[MS], the IGR[MS] had significantly lower ΔI30/ΔG30 (P = .005) and oDI (P < .001), but the AUC CP and peak C-peptide had no difference. CONCLUSION: Although the MS youth have ß-cell hyperfunction as a whole, ß-cell dysfunction is present in the early stages of dysmetabolism in obese youth with cMD or MS and worsened across the spectrum from iOB to cMD and MS, contributing to development of T2DM.


Assuntos
Células Secretoras de Insulina/fisiologia , Síndrome Metabólica/complicações , Síndrome Metabólica/fisiopatologia , Obesidade Infantil/complicações , Obesidade Infantil/fisiopatologia , Adolescente , Estudos de Casos e Controles , Criança , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Intolerância à Glucose/complicações , Intolerância à Glucose/fisiopatologia , Teste de Tolerância a Glucose , Humanos , Resistência à Insulina/fisiologia , Ilhotas Pancreáticas/fisiopatologia , Masculino , Estudos Prospectivos
5.
Eur Radiol ; 28(11): 4479-4487, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29713773

RESUMO

OBJECTIVES: To determine the feasibility of balanced steady-state free precession (b-SSFP) imaging for measuring hepatic steatosis in obese children and adolescents, using proton magnetic resonance spectroscopy (1H MRS) as reference standard. METHODS: 182 obese Chinese paediatric patients underwent conventional T1-weighted dual echo MRI, 1H MRS and b-SSFP imaging for non-invasive assessment of hepatic steatosis. RESULTS: There was a strong positive correlation between liver fat fraction (FF) on T1-weighted dual echo MRI and 1H MRS-determined liver fat content (LFC) (r = 0.964, p < .001), and a strong negative correlation between the ratio of liver signal intensity (SI) to spleen SI (L/S) on b-SSFP and LFC (r = -0.896, p < .001). ROC curve analysis based on a diagnostic threshold of 1H MRS-determined LFC >50 mg/g (>5 % by wet weight) showed areas under the curves for FF and L/S at 0.989 (0.976-1.000) and 0.926 (0.888-0.964), respectively. Optimal FF and L/S cut-off values identified patients with hepatic steatosis with 97.9 % and 86.5 % sensitivity and 93.4 % and 93.4 % specificity, respectively. CONCLUSIONS: Following further validation, b-SSFP at 1.5T has potential as a feasible technique for evaluation of hepatic steatosis in obese paediatric patients with limited breath-holding capacity. KEY POINTS: • L/S on b-SSFP images closely correlated with 1 H MRS-determined LFC. • b-SSFP has high diagnostic accuracy for hepatic steatosis in obese children. • 100% of obese paediatric subjects are imaged successfully using b-SSFP sequence. • b-SSFP has potential to evaluate hepatic steatosis in children with poor breath-hold.


Assuntos
Fígado Gorduroso/diagnóstico , Fígado/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/métodos , Obesidade/complicações , Adolescente , Suspensão da Respiração , Criança , Pré-Escolar , Diagnóstico Diferencial , Fígado Gorduroso/etiologia , Estudos de Viabilidade , Feminino , Humanos , Masculino , Obesidade/diagnóstico , Curva ROC
6.
Pediatr Diabetes ; 19(1): 27-35, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28326652

RESUMO

China is gradually taking its place as one of the world's economic giants and concurrently learning to cope with the burden of diseases that are more common in the developed world, such as paediatric type 2 diabetes mellitus. The prevalence of type 2 diabetes has been recently observed among children and adolescents in China; hence, there is a lack of information about the incidence, prevalence, pathogenesis, and pathophysiology of the disease. Diagnosis, treatment, and management have been standardized to a large degree, but there is still a need for data regarding optimal management protocols and how to achieve the best control over current state of the disease. The objective of this review is to consolidate the available information about paediatric diabetes, with a focus on the increasing prevalence of type 2 diabetes in Chinese youth. Here we emphasize the prevention strategies and have included literature with respect to pathogenesis, diagnosis, and treatment published in English and Chinese within the past 10 years.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Idade de Início , Criança , China/epidemiologia , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/etiologia , Diabetes Mellitus Tipo 2/terapia , Humanos , Programas de Rastreamento , Pandemias
7.
Zhonghua Nan Ke Xue ; 22(9): 843-849, 2016 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-29071885

RESUMO

Disorders of sex development (DSD) is defined as a congenital condition or atypical development of the chromosomal, gonadal, or anatomic sex. The diagnosis, gender assignment, and treatment of DSD require the guidance from experienced multidisciplinary teams. So far there has been no consensus about it in China. Due to dysgenetic gonads, defects in sex steroid biosynthesis or action, or gonadectomy during the prepubertal years, those with DSD suffer from hypogonadism. The hormone replacement therapy of DSD aims at general physiological health and long-term prognosis as well as the avoidance of unnecessary genital and gonadal surgery. This review focuses on the advances in the studies of the diagnosis and hormone replacement therapy of 46,XY DSD.


Assuntos
Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/tratamento farmacológico , Terapia de Reposição Hormonal , China , Hormônios Esteroides Gonadais/biossíntese , Gônadas/crescimento & desenvolvimento , Humanos , Masculino , Prognóstico
8.
Endocr Pract ; 21(10): 1117-24, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26151419

RESUMO

OBJECTIVE: Evidence of the association between vitamin D, insulin resistance, and oral disposition index (oDI) in obese children and adolescents is limited. To fill this research gap, we measured serum 25-hydroxyvitamin D (25[OH]D) levels in obese children and analyzed the relationship between serum 25(OH)D levels and glucose homeostasis. METHODS: Altogether, 348 obese and 445 nonobese children and adolescents (age, 6 to 16 years) were enrolled in this study. Obese children were divided into 4 subgroups: normal glucose tolerance (NGT), impaired fasting glucose (IFG), impaired glucose tolerance (IGT), and combined IFG and IGT (IFG+IGT) according to oral glucose tolerance test results. We measured serum 25(OH)D levels and calculated the homeostasis model assessment (HOMA) of insulin resistance (IR), the whole-body insulin sensitivity index (WBISI), and the disposition index. RESULTS: The levels of 25(OH)D in the obese group were significantly lower than in the nonobese group; serum 25(OH)D level in the NGT subgroup was higher than those of the other 3 subgroups, and it was significantly inversely correlated with logHOMA-IR (r = -0.090; P = .045) and positively correlated with logWBISI and logHOMA-oDI (r = 0.091, P = .049; and r = 0.108, P = .046, respectively). Obese patients with vitamin D deficiency thus have a significantly higher risk of disturbances in glucose metabolism. CONCLUSION: 25(OH)D deficiency or insufficiency is quite common in obese children and adolescents in Zhejiang, China. Obese patients with 25(OH)D deficiency (<30 nmol/L) are shown to be at higher risk for abnormal glucose metabolism.


Assuntos
Glicemia/metabolismo , Obesidade Infantil/sangue , Vitamina D/análogos & derivados , Adolescente , Criança , China/epidemiologia , Feminino , Intolerância à Glucose/sangue , Intolerância à Glucose/epidemiologia , Teste de Tolerância a Glucose , Homeostase , Humanos , Masculino , Obesidade Infantil/epidemiologia , Obesidade Infantil/metabolismo , Estações do Ano , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia
9.
Zhongguo Dang Dai Er Ke Za Zhi ; 17(8): 763-8, 2015 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-26287335

RESUMO

OBJECTIVE: To explore the effects of obesity on the peak level of luteinizing hormone (LH) in the gonadotropin-releasing hormone (GnRH) agonist test and obesity-related hormones in girls with central precocious puberty (CPP). METHODS: Three hundred and thirty-three girls with CPP who underwent the GnRH agonist test between 2012 and 2014 were classified into three groups: normal weight (n=123), overweight (n=108), and obesity (n=102), according to body mass index (BMI). The sexual development indices were compared between the three groups. Twenty girls were randomly selected from each group for evaluation of the serum levels of leptin, sex hormone binding globulin (SHBG), neurokinin B, and kisspeptin. The correlation of BMI with the levels of various hormones was assessed using Pearson correlation analysis. RESULTS: There was no significant difference in mean age at diagnosis between the three groups; however, the bone age was significantly higher in the overweight and obesity groups than in the normal weight group (P<0.05). The peak level of LH in the GnRH agonist test and SHBG level in the normal weight group were significantly higher than those in the overweight and the obesity groups, while the serum levels of leptin and neurokinin B were significantly lower in the normal weight group than in the overweight and the obesity groups (P<0.05). BMI was negatively correlated with the peak level of LH in the GnRH agonist test and SHBG level (P<0.05), and positively correlated with the levels of leptin and neurokinin B (P<0.05). CONCLUSIONS: The effects of BMI on the result of the GnRH agonist test and levels of obesity-related hormones should be taken into account in girls with precocious puberty.


Assuntos
Hormônio Liberador de Gonadotropina/agonistas , Leptina/sangue , Hormônio Luteinizante/sangue , Obesidade/sangue , Puberdade Precoce/sangue , Índice de Massa Corporal , Criança , Feminino , Humanos , Neurocinina B/sangue , Globulina de Ligação a Hormônio Sexual/análise
10.
Cell Physiol Biochem ; 34(6): 1983-97, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25562147

RESUMO

BACKGROUND/AIM: Emerging evidence suggests that microRNA (miRNA) mediated gene regulation influences the maintenance of metabolic homeostasis, particularly the states of obesity and insulin resistance, thereby providing a potential link between miRNAs and nonalcoholic fatty liver disease (NAFLD). METHODS: Sprague-Dawley rats fed a high-fat diet (HFD) were used to establish a rat model of NAFLD. The miRNA expression profile of liver tissues was evaluated using Illumina HiSeq deep sequencing. Selected miRNAs were then validated by real-time PCR at both 4- and 12-week time points. Furthermore, the expression levels of these miRNAs were assessed in HepG2 cells and human hepatocytes treated with free fatty acids (FFAs) and proinflammatory factors (tumour necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6). RESULTS: Our results showed that consumption of a HFD for 4 weeks caused simple steatosis, which progressed to steatohepatitis at 12 weeks. miRNA deep sequencing analysis identified 44 known up-regulated miRNAs (fold change >1.5) and 12 down-regulated miRNAs (fold change <0.5). Among the abnormally expressed miRNAs, miR-200a, miR-200b, miR-200c, miR-146a, miR-146b and miR-152 were up-regulated both in vitro and vivo. Interestingly, the expression levels of these six miRNAs were increased in HepG2 cells and human hepatocytes after treatment with FFAs and proinflammatory factors. CONCLUSION: These findings suggest a critical role for miRNAs in the pathogenesis of NAFLD.


Assuntos
Regulação da Expressão Gênica , MicroRNAs/biossíntese , Hepatopatia Gordurosa não Alcoólica/genética , Hepatopatia Gordurosa não Alcoólica/metabolismo , Animais , Dieta Hiperlipídica , Ácidos Graxos não Esterificados/administração & dosagem , Células Hep G2 , Hepatócitos/efeitos dos fármacos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Resistência à Insulina/genética , MicroRNAs/genética , Hepatopatia Gordurosa não Alcoólica/patologia , Ratos
11.
Lipids Health Dis ; 13: 93, 2014 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-24903888

RESUMO

BACKGROUND: Although the association between the apolipoprotein A5 (APOA5) genetic variants and hypertriglyceridemia has been extensively studied, there have been few studies, particularly in children and adolescents, on the association between APOA5 genetic variants and obesity or non-high-density lipoprotein cholesterol (non-HDL-C) levels. The objective of this study was to examine whether APOA5 gene polymorphisms affect body mass index (BMI) or plasma non-HDL-C levels in Chinese child population. METHODS: This was a case-control study. Single nucleotide polymorphisms (SNPs) were genotyped using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry for an association study in 569 obese or overweight and 194 healthy Chinese children and adolescents. RESULTS: Genotype distributions for all polymorphisms in both cohorts were in accordance with the Hardy-Weinberg distribution. The frequencies of the risk alleles in rs662799 and rs651821 SNPs in APOA5 gene were all increased in obese or overweight patients compared to the controls. After adjusted for age and sex, C carriers in rs662799 had a 1.496-fold [95% confidence interval (CI): 1.074-2.084, P = 0.017] higher risk for developing obesity or overweight than subjects with TT genotype, while C carriers in rs651821 had a 1.515-fold higher risk than subjects with TT genotype (95% CI: 1.088-2.100, P = 0.014). Triglyceride (TG) and non-HDL-C concentrations were significantly different among rs662799 variants and both were higher in carriers of minor allele than in noncarriers for TG (1.64 ± 0.96 vs. 1.33 ± 0.67 mmol/L) (P < 0.001), and for non-HDL-C (3.23 ± 0.92 vs. 3.02 ± 0.80 mmol/L) (P = 0.005), respectively. There was also a trend towards increased TG and non-high-density lipoprotein cholesterol levels for rs651821 C carriers (P < 0.001 and P = 0.002, respectively). Furthermore, to confirm the independence of the associations between APOA5 gene and TG or non-HDL-C levels, multiple linear regression analysis was performed and the relationships were not eliminated by adjustment for age, sex and BMI. CONCLUSIONS: These findings suggest the TG-raising genetic variants in the APOA5 gene may influence the susceptibility of the individual to obesity, which may also contribute to an increased risk of high non-HDL-C levels in Chinese obese children and adolescents.


Assuntos
Apolipoproteínas A/genética , Obesidade/sangue , Adolescente , Apolipoproteína A-V , Estudos de Casos e Controles , Criança , HDL-Colesterol/sangue , Dislipidemias/sangue , Dislipidemias/genética , Feminino , Genótipo , Humanos , Hipertrigliceridemia/sangue , Hipertrigliceridemia/genética , Masculino , Polimorfismo de Nucleotídeo Único/genética , Triglicerídeos/sangue
12.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(9): 873-7, 2014 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-25229950

RESUMO

OBJECTIVE: To evaluate the sensitivity and specificity of hepatic ultrasonography (US) for the diagnosis of hepatic steatosis in obese children, using ¹H magnetic resonance spectroscopy (¹H MRS) as the reference standard. METHODS: A total of 162 obese children with age of 10.5 ± 2.2 years and BMI of 28 ± 4 were enrolled in this study. They accepted hepatic US and (1)H MRS examinations. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of US were calculated for the overall presence of hepatic steatosis by comparison with ¹H MRS results. RESULTS: Using quantitative criteria of liver fat content (LFC) >5% determined by (1)H MRS, 95 children(58.6%)were diagnosed as having hepatic steatosis. The sensitivity and specificity of US in diagnosing steatosis were 91.6% (87/95) and 50.7% (34/67) respectively, with PPV of 72.5% (87/120), and NPV of 81.0% (34/42). Considerable overlap in LFC measured by ¹H MRS was observed between different grades from US findings: absent (LFC interquartile range: 1.3%-3.9%), mild (2.4%-10.7%), moderate (7.1%-20.2%) and severe (7.6%-28.8%) steatosis. CONCLUSIONS: The US can yield a high sensitivity and low specificity in the diagnosis of hepatic steatosis in obese children, suggesting it can be used as a screening tool for hepatic steatosis. To improve diagnostics, ¹H MRS is needed to determine LFC.


Assuntos
Fígado Gorduroso/diagnóstico por imagem , Obesidade/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Espectroscopia de Ressonância Magnética , Masculino , Valor Preditivo dos Testes , Ultrassonografia
13.
Mol Genet Genomic Med ; 12(4): e2439, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38613222

RESUMO

OBJECTIVE: To characterize the phenotype spectrum, diagnosis, and response to growth-promoting therapy in patients with ACAN variants causing familial short stature. METHODS: Three families with ACAN variants causing short stature were reported. Similar cases in the literature were summarized, and the genotype and phenotype were analyzed. RESULTS: Three novel heterozygous variants, c.757+1G>A, (splicing), c.6229delG, p.(Asp2078Tfs*1), and c.6679C>T, p.(Gln2227*) in the ACAN gene were identified. A total of 314 individuals with heterozygous variants from 105 families and 8 individuals with homozygous variants from 4 families were confirmed to have ACAN variants from literature and our 3 cases. Including our 3 cases, the variants reported comprised 33 frameshift, 39 missense, 23 nonsense, 5 splicing, 4 deletion, and 1 translocation variants. Variation points are scattered throughout the gene, while exons 12, 15, and 10 were most common (25/105, 11/105, and 10/105, respectively). Some identical variants existing in different families could be hot variants, c.532A>T, p.(Asn178Tyr), c.1411C>T, p.(Gln471*), c.1608C>A, p.(Tyr536*), c.2026+1G>A, (splicing), and c.7276G>T, p.(Glu2426*). Short stature, early-onset osteoarthritis, brachydactyly, midfacial hypoplasia, and early growth cessation were the common phenotypic features. The 48 children who received rhGH (and GnRHa) treatment had a significant height improvement compared with before (-2.18 ± 1.06 SD vs. -2.69 ± 0.95 SD, p < 0.001). The heights of children who received rhGH (and GnRHa) treatment were significantly improved compared with those of untreated adults (-2.20 ± 1.10 SD vs. -3.24 ± 1.14 SD, p < 0.001). CONCLUSION: Our study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals with ACAN variants. No clear genotype-phenotype relationship of patients with ACAN variants was found. Gene sequencing is necessary to diagnose ACAN variants that cause short stature. In general, appropriate rhGH and/or GnRHa therapy can improve the adult height of affected pediatric patients caused by ACAN variants.


Assuntos
Nanismo , Hormônio do Crescimento Humano , Adulto , Criança , Humanos , Agrecanas , Genótipo , Heterozigoto , Homozigoto , Pacientes , Fenótipo
14.
World J Pediatr ; 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38388968

RESUMO

BACKGROUND: Alanine aminotransferase (ALT) is widely used to screen patients with hepatic diseases. However, the current reference ranges (< 50 U/L) were developed by laboratories and have not been validated in populations with a large number of healthy individuals. METHODS: This study collected venous blood and anthropometric data from a total of 13,287 healthy children aged 3 months to 18 years who underwent routine physical examinations in the Department of Pediatric Healthcare. We applied the least mean square algorithm to establish age- and sex-related reference percentiles of serum levels of transaminases. For validation, we recruited 4276 children and adolescents with obesity/overweight who underwent evaluation and metabolic tests in the hospital. Using receiver operating characteristic curves, we determined age- and sex-specific upper limit percentiles of liver enzymes for fatty liver diseases. RESULTS: This study revealed a significant correlation between serum transaminase levels and age and sex (P < 0.01). These transaminase levels exhibited age- and sex-specific patterns. Among individuals in the non-alcoholic fatty liver disease (NAFLD) cohort, elevated ALT levels displayed a positive association with clinical markers of disease severity, including homeostatic model assessment of insulin resistance, waist-hip ratio, and serum uric acid levels (P < 0.01). According to the receiver operating characteristic curves, ALT levels at the 92.58th percentile for boys and the 92.07th percentile for girls yielded the highest accuracy and specificity. CONCLUSIONS: This study provides age- and sex-specific reference ranges for ALT, aspartate aminotransferase, and γ-glutamyltransferase in Chinese children and adolescents, making it the largest population study to date. Furthermore, the study establishes a precise upper limit for ALT levels, facilitating their use in NAFLD screening. Video Abstract.

15.
Zhongguo Dang Dai Er Ke Za Zhi ; 15(5): 356-60, 2013 May.
Artigo em Chinês | MEDLINE | ID: mdl-23676937

RESUMO

OBJECTIVE: To investigate the role of non-high density lipoprotein cholesterol (non-HDL-C) in the assessment of cardiovascular disease (CVD) risk factors such as hypertension, pre-diabetes and diabetes in obese children. METHODS: According to the presence of complications (hypertension, pre-diabetes and diabetes), 810 children with central obesity were divided into two groups: one group with complications (n=499) and one group without complications (n=311). One hundred and sixty-four age- and sex-matched children served as the control group. Logistic regression analysis and receiver operating characteristic (ROC) curves were used to analyze the detection of non-lipid CVD risk factors by seven lipid markers. RESULTS: The prevalence rates of hypertension and pre-diabetes were significantly higher in obese children with high non-HDL-C concentrations (≥3.76 mmol/L). After adjusting for waist circumference Z-scores, the area under the ROC curve for non-HDL-C was 0.680 to detect non-lipid CVD risk factors, while the areas for low-density lipoprotein cholesterol, total cholesterol and apoprotein B were 0.659, 0.669 and 0.647 respectively. CONCLUSIONS: Compared with the other lipid markers, non-HDL-C is a better predictor for non-lipid CVD risk factors in obese children. Measurement of non-HDL-C concentations is recommended for obese children.


Assuntos
Doenças Cardiovasculares/etiologia , Colesterol/sangue , Obesidade/complicações , Adolescente , Criança , HDL-Colesterol/sangue , Feminino , Humanos , Modelos Logísticos , Masculino , Obesidade/sangue , Fatores de Risco
16.
Zhongguo Dang Dai Er Ke Za Zhi ; 15(4): 285-8, 2013 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-23607952

RESUMO

OBJECTIVE: To investigate the clinical status and natural course of premature thelarche (PT) in infants under 2 years of age and to analyze the predictive factors for regression of thelarche. METHODS: The clinical and laboratory data of 863 infants under 2 years of age, who visited the department of endocrinology in our hospital due to PT between October 2009 and September 2010, were analyzed. A a longitudinal follow-up study was performed. RESULTS: Of the infants under 2 years of age with isolated PT, 89.3% showed a regression before the age of 3 years (mean 17±5.6 months), 10.7% had recurrent or persistent thelarche, with no regression after the age of 3 years, and some even developed into central precocious puberty. The independent predictive factors for regression of thelarche were Tanner stage at the first visit and whether baseline estradiol level had increased. CONCLUSIONS: PT in infants under 2 years of age is not rare in the clinical setting, and it usually runs a self-limited course, subsiding before the age of 3 years. However, regular follow-ups should be performed for infants aged over 2 years with persistent thelarche.


Assuntos
Mama/crescimento & desenvolvimento , Puberdade Precoce/fisiopatologia , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido
17.
World J Pediatr ; 19(12): 1115-1126, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36920656

RESUMO

BACKGROUND: Recent decades have shown a rapid increase in the prevalence of overweight and obesity among Chinese children based on several national surveys. Restrictions due to the coronavirus disease 2019 outbreak have worsened its epidemiology. This review updates the trends in the prevalence of overweight and obesity among Chinese children and adolescents and analyzes the underlying reasons to provide evidence for better policy making. METHODS: Studies published in English and Chinese were retrieved from PubMed, Google Scholar, China National Knowledge Infrastructure and Wanfang. RESULTS: The prevalence of overweight and obesity has been increasing for decades and varies with age, sex and geography but is more pronounced in primary school students. The increase in obesity in boys appeared to be slower, whereas that in girls showed a declining trend. The northern areas of China have persistently maintained the highest levels of obesity with a stable trend in recent years. Meanwhile, the prevalence in eastern regions has dramatically increased. Notably, the overall prevalence of obesity in children has shown a stabilizing trend in recent years. However, the occurrence of obesity-related metabolic diseases increased. The effect of migrants floating into east-coast cities should not be neglected. CONCLUSIONS: The high prevalence of overweight and obesity among Chinese children and adolescents persists but with varying patterns. Obesity-related metabolic diseases occur more frequently despite a stable trend of obesity. Multiple factors are responsible for the changing prevalence. Thus, comprehensive and flexible policies are needed to effectively manage and prevent the burden of obesity and its related complications.

18.
World J Pediatr ; 2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37004681

RESUMO

BACKGROUND: With the exploding prevalence of obesity, many children are at risk of developing nonalcoholic fatty liver disease. Using anthropometric and laboratory parameters, our study aimed to develop a model to quantitatively evaluate liver fat content (LFC) in children with obesity. METHODS: A well-characterized cohort of 181 children between 5 and 16 years of age were recruited to the study in the Endocrinology Department as the derivation cohort. The external validation cohort comprised 77 children. The assessment of liver fat content was performed using proton magnetic resonance spectroscopy. Anthropometry and laboratory metrics were measured in all subjects. B-ultrasound examination was carried out in the external validation cohort. The Kruskal-Wallis test, Spearman bivariate correlation analyses, univariable linear regressions and multivariable linear regression were used to build the optimal predictive model. RESULTS: The model was based on indicators including alanine aminotransferase, homeostasis model assessment of insulin resistance, triglycerides, waist circumference and Tanner stage. The adjusted R2 of the model was 0.589, which presented high sensitivity and specificity both in internal [sensitivity of 0.824, specificity of 0.900, area under curve (AUC) of 0.900 with a 95% confidence interval: 0.783-1.000] and external validation (sensitivity of 0.918 and specificity of 0.821, AUC of 0.901 with a 95% confidence interval: 0.818-0.984). CONCLUSIONS: Our model based on five clinical indicators was simple, non-invasive, and inexpensive; it had high sensitivity and specificity in predicting LFC in children. Thus, it may be useful for identifying children with obesity who are at risk for developing nonalcoholic fatty liver disease.

19.
World J Pediatr ; 19(5): 438-449, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36564648

RESUMO

BACKGROUND: Recombinant human growth hormone (rhGH) therapy has shown to improve height and body composition in children with Prader-Willi syndrome (PWS), the evidence of early rhGH treatment on motor and mental development is still accumulating. This study explored the time effect on psychomotor development, anthropometric indexes, and safety for infants and young children with PWS. METHODS: A phase 3, single-arm, multicenter, self-controlled study was conducted in six sites. Patients received rhGH at 0.5 mg/m2/day for first four weeks, and 1 mg/m2/day thereafter for up to 52 weeks. Motor development was measured using Peabody Developmental Motor Scales-second edition, mental development using Griffiths Development Scales-Chinese (GDS-C). Height standard deviation score (SDS), body weight SDS, and body mass index (BMI) SDS were also assessed. RESULTS: Thirty-five patients were enrolled totally. Significant improvements were observed in height, body weight, and BMI SDS at week 52; GDS-C score showed significant improvement in general quotient (GQ) and sub-quotients. In a linear regression analysis, total motor quotient (TMQ), gross motor quotient (GMQ), and fine motor quotient were negatively correlated with age; however, treatment may attenuate deterioration of TMQ and GMQ. Changes in GQ and locomotor sub-quotient in < 9-month group were significantly higher than ≥ 9-month group. Mild to moderate severity adverse drug reactions were reported in six patients. CONCLUSION: Fifty-two-week treatment with rhGH improved growth, BMI, mental development, and lessened the deterioration of motor function in infants and young children with PWS. Improved mental development was more pronounced when instituted in patients < 9 months old.


Assuntos
Hormônio do Crescimento Humano , Síndrome de Prader-Willi , Criança , Pré-Escolar , Humanos , Lactente , Antropometria , Índice de Massa Corporal , Peso Corporal , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do Crescimento Humano/efeitos adversos , Síndrome de Prader-Willi/tratamento farmacológico , Proteínas Recombinantes/efeitos adversos
20.
Horm Res Paediatr ; 2023 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-37454648

RESUMO

Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin secretion is the most common and most severe cause of persistent hypoglycemia in infants and children. In the 65 years since HI in children was first described, there has been a dramatic advancement in the diagnostic tools available, including new genetic techniques and novel radiologic imaging for focal HI, however; there have been almost no new therapeutic modalities since the development of diazoxide. Recent advances in neonatal research and genetics have improved our understanding of the pathophysiology of both transient and persistent forms of neonatal hyperinsulinism. Rapid turnaround of genetic test results combined with advanced radiologic imaging can permit identification and localization of surgically-curable focal lesions in a large proportion of children with congenital forms of HI, but are only available in certain centers in 'developed' countries. Diazoxide, the only drug currently approved for treating HI, was recently designated as an "essential medicine" by the World Health Organization but has been approved in only 16% of Latin American countries and remains unavailable in many under-developed areas of the world. Novel treatments for HI are emerging, but they await completion of safety and efficacy trials before being considered for clinical use. This international consensus statement on diagnosis and management of HI was developed in order to assist specialists, general pediatricians, and neonatologists in early recognition and treatment of HI with the ultimate aim of reducing the prevalence of brain injury caused by hypoglycemia. A previous statement on diagnosis and management of HI in Japan was published in 2017. The current document provides an updated guideline for management of infants and children with HI and includes potential accommodations for less-developed regions of the world where resources may be limited.

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