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1.
Front Endocrinol (Lausanne) ; 12: 735952, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34721295

RESUMO

Objective: To investigate the associations of sleep duration, wake-up time, bedtime, and childhood abdominal obesity, and to test whether there is a weekday/weekend difference and the potential modifying role of sex. Methods: This cross-sectional study was based on the Students' Constitution and Health Survey and included 9559 students (4840 boys and 4719 girls) aged 7-18 years (7227 aged 7-12 years, 2332 aged 13-18 years). They were divided into two groups (control group and group with abdominal obesity). The physical measurements included children and youth body height, body weight, and waist circumference (WC). A parent-report questionnaire was used to collect the information about parent characteristics as well as lifestyle and sleep patterns (sleep duration, bedtime, and wake-up time of weekdays and weekends) of children and youth. Results: The prevalence of abdominal obesity was 30.57% and the percentages of sleep duration <9 hours/day, wake-up time before 07:00 am on weekdays and weekends, bedtime after 10:00 pm on weekends were significantly higher in the group with abdominal obesity. After adjusting for confounders, sleep duration <9 hours/day on weekends was inversely related to abdominal obesity in the overall subjects, regardless of their sex and age, while bedtime after 10:00 pm on weekends was inversely related to abdominal obesity only in the overall subjects, boys, and children aged 7-12 years. Logistic regression models in all subjects showed that shorter hours of weekends sleep duration were associated with greater risks of abdominal obesity, even after adjusting for all confounders, including wake-up time and bedtime. The adjusted odds ratios and 95% confidence intervals of abdominal obesity (with ≥10 hours/day as the reference group) for children with 9-10 hours/day, 8-9 hours/day, and <8 hours/day of weekend sleep duration were 1.23 (1.04-1.46), 1.59 (1.32-1.91) and 1.83 (1.42-2.36), respectively. Specifically, after stratification by sex and age, this phenomenon was only observed in boys and children aged 7-12 years. Conclusions: Sleep duration and bedtime on weekends were independently associated with the risk of childhood abdominal obesity, particularly in boys and children aged 7-12 years.

2.
Orphanet J Rare Dis ; 16(1): 416, 2021 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-34627348

RESUMO

BACKGROUND: 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment. However, there is no standard uniform of care nor consensus at present. We sought to evaluate the current treatment's rationality and provide a reference basis for the gender reassignment in 46, XY DSD patients with a specific diagnosis. METHODS: We conducted a cross-sectional survey of gender role with the Pre-school Activities Inventory (PSAI), the Children's Sex Role Inventory (CSRI) in 46, XY DSD patients and set up control groups comparison. Psychiatrist assessed gender dysphoria in patients ≥ 8-year-old with the criteria of diagnostic and statistical manual of mental disorders, 5th edition (DSM-5). RESULTS: A total of 112 responders of 136 patients participated in this study (82.4%, aged 2-17.8 years, median age: 4-year-old). The follow-up period was from 6 months to 10 years (median: 2 years). Twenty-five females were reassigned to the male gender after a specific diagnosis (16/25 (64%) in 5 alfa-reductase-2 deficiency (5α-RD2), 5/25 (20%) in partial androgen insensitivity syndrome (PAIS), 4/25 (16%) in NR5A1gene mutation). Male gender assignment increased from 55.3 (n = 62) to 77.7% (n = 87). The median PSAI score was similar to the control males in 5α-RD2, PAIS, and NR5A1 gene mutation groups (p > 0.05); while identical to the control females in complete androgen insensitivity syndrome (CAIS) and CYP17A1 gene mutation groups (p > 0.05). PSAI score of children raised as male was higher than those of CAIS and CYP17A1 groups raised as female (p < 0.05). CSRI scale showed no statistical differences in the consistency of gender roles and reassigned gender between 46, XY DSD patients and control groups (p > 0.05). None of the patients over 8-year-old (n = 44) had gender dysphoria. CONCLUSION: The reassigned gender in 46, XY DSD patients is consistent with their gender role during early childhood. None of them had gender dysphoria. The molecular diagnosis, gonadal function, and the gender reassignment are congruent within our Chinese cohort. Long-term follow-up and more evaluation are still required.


Assuntos
Transtorno 46,XY do Desenvolvimento Sexual , Transtornos do Desenvolvimento Sexual , Disforia de Gênero , Criança , Pré-Escolar , Estudos Transversais , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Feminino , Disforia de Gênero/diagnóstico , Disforia de Gênero/genética , Papel de Gênero , Humanos , Masculino
3.
JAMA Netw Open ; 4(10): e2131040, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34698846

RESUMO

Importance: Obesity is a public health challenge in China, but the geographical profiles of overweight and obesity among Chinese children are limited. Objective: To examine regional disparities in the prevalence of obesity among the heterogeneous population of Chinese children and adolescents to provide a more accurate profile of obesity among children in China. Design, Setting, and Participants: The Prevalence and Risk Factors for Obesity and Diabetes in Youth (PRODY) study was a cross-sectional survey study conducted from January 1, 2017, to December 31, 2019, among 201 098 children aged 3 to 18 years from 11 provinces, autonomous regions, and municipalities that produced a sample of Chinese children with a full range of ages and wide geographical coverage using a multistage, stratified, cluster-sampling design. Exposures: Five regions geographically representative of China (northern, eastern, southern, western, and central). Main Outcomes and Measures: The body weights and heights of all participants were measured. Multilevel, multinomial logistic regression models were used to estimate the prevalence of overweight and obesity. Results: Among 201 098 healthy children (105 875 boys [52.6%]; mean [SD] age, 9.8 [3.8] years) from eastern, southern, northern, central, and western China, the highest obesity prevalence was estimated for children aged 8 to 13 years in northern China (from 18.8% [95% CI, 16.2%-21.7%] to 23.6% [95% CI, 20.5%-26.9%]) and for boys aged 3 to 6 years in western China (from 18.1% [95% CI, 10.4%-29.4%] to 28.6% [95% CI, 14.3%-49.0%]). Boys had a higher prevalence than girls of obesity only in eastern and northern China, with a mean difference in prevalence of 4.6% (95% CI, 3.8%-5.4%) and 7.6% (95% CI, 6.5%-8.6%), respectively. Conclusions and Relevance: In this survey study, substantial geographic disparities in the prevalence of obesity and overweight were found among the heterogeneous population of Chinese children. The results suggest that special attention should be paid to vulnerable children and that regionally adapted interventions are needed to efficiently mitigate obesity in children.

4.
Front Endocrinol (Lausanne) ; 12: 711991, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34589056

RESUMO

Purpose: Congenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutational burden analysis. Methods: We retrospectively analyzed 109 short stature patients associated with hormone deficiency. All patients were classified into two groups: Group I (n=45) with definitive GHD and Group II (n=64) with possible GHD. We analyzed correlation consistency between clinical criteria and molecular findings by whole exome sequencing (WES) in two groups. The patients without a molecular diagnosis (n=90) were compared with 942 in-house controls for the mutational burden of rare mutations in 259 genes biologically related with the GH axis. Results: In 19 patients with molecular diagnosis, we found 5 possible GHD patients received known molecular diagnosis associated with GHD (NF1 [c.2329T>A, c.7131C>G], GHRHR [c.731G>A], STAT5B [c.1102delC], HRAS [c.187_207dup]). By mutational burden analysis of predicted deleterious variants in 90 patients without molecular diagnosis, we found that POLR3A (p = 0.005), SUFU (p = 0.006), LHX3 (p = 0.021) and CREB3L4 (p = 0.040) represented top genes enriched in GHD patients. Conclusion: Our study revealed the discrepancies between the laboratory testing and molecular diagnosis of GHD. These differences should be considered when for an accurate diagnosis of GHD. We also identified four candidate genes that might be associated with GHD.

5.
Diabetes Metab Syndr Obes ; 14: 3323-3335, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34321899

RESUMO

Objective: To investigate the prevalence and associated factors of childhood overweight/obesity in the Shunyi district of Beijing, China. Methods: This study adopted a cross-sectional survey and included 10,855 children aged 6-18 years in the Shunyi district of Beijing, China. Analyses were stratified by age group (6-8, 9-11, 12-14, and 15-18 years). Results: The prevalence of overweight and obesity among children aged 6-18 years was high with 17.62% and 29.05% in boys, 17.57% and 18.04% in girls, respectively. Both boys and girls aged 9-11 years had the highest rate of obesity in comparison with the other age groups, though the differences in children aged 9-11 years and 12-14 years were not statistically significant. Compared with age 6-8 years, age 9-11 years (OR=1.59, 95% CI 1.41-1.79, P<0.01) and 12-14 years (OR=1.26, 95% CI 1.48-1.73, P<0.01) were independently positively associated with obesity. Importantly, in all subjects, the percentages of being physically active (exercise time ≥120 minutes/week) were lower in children aged 9-11 years in comparison to children in other age groups. This phenomenon remained when this comparison was performed respectively in the normal-weight, overweight, and obesity groups. Even after adjustment for other potential confounders, the probability of being physically active (exercise time ≥120 minutes/week) was lower in children aged 9-11 years (OR=0.86, 95% CI 0.78-0.94, P<0.01), but higher in children aged 12-14 years (OR=1.91, 95% CI 1.69-2.17, P<0.01) and aged 15-18 years (OR=2.22, 95% CI 1.85-2.66, P<0.01), when compared with children aged 6-8 years. Conclusion: Children aged 9-11 years had a higher prevalence of obesity, but a lower percentage of being physically active. Targeted intervention programs in this key group are needed to address this problem in China.

6.
Orphanet J Rare Dis ; 16(1): 159, 2021 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-33827627

RESUMO

BACKGROUND: Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children. METHODS: The clinical and genetic characteristics of 10 Chinese children with HPP who were referred to the Beijing Children's Hospital were described. Previously reported HPP cases of children in China were also reviewed. RESULTS: A total of 33 cases were identified, which included 2 perinatal lethal HPP, 10 infantile HPP, 10 childhood HPP, and 11 odonto HPP. The male-to-female ratio was 24:9. The average age at onset was 0.69 years (ranged from 2 h after birth to 14 years), while the average age at clinical diagnosis was 3.87 years (ranged from 2 h after birth to 19 years). Serum alkaline phosphatase (ALP) levels were significantly decreased in patients with perinatal lethal/infantile HPP when compared with those with the mild forms of HPP childhood/odonto HPP (P < 0.01). Although serum phosphate levels were not different (P > 0.05), serum calcium levels were elevated, and serum intact parathyroid hormone levels were decreased in patients with perinatal lethal/infantile HPP in comparison with those with the childhood/odonto HPP (P all < 0.01). Genetic analyses identified 40 mutations in 31 HPP cases, including 28 missense mutations, 9 frameshift mutations, 2 splice junction alterations, and 1 regulatory mutation. Of which, 5 novel mutations were identified in our present study: 2 frameshift mutations (p.Arg138GlyfsTer27, p.Leu511Profs*272); 2 missense mutations (p.Ala176Val, p.Phe268Leu), and 1 splice junction alteration (c.297+5G>A). Compound heterozygous mutations accounted for 80.6% of all variants. No mutational "hot-spot" was found. Most mutations of ALPL were located in exons 5, 7, 10, and 3. Notably, subjects that carrying single heterozygous mutations showed milder phenotypes of HPP, while subjects with nonsense mutations were associated with a severer phenotype. CONCLUSIONS: HPP is a rare disease with often delayed diagnosis, and the incidence of HPP in China may be seriously underestimated. The present study expands the phenotypic and genotypic spectrum and the understanding of HPP in Chinese children. These findings will be useful for clinical assessment and shorten the diagnosis time for pediatric HPP in China.


Assuntos
Hipofosfatasia , Fosfatase Alcalina/genética , Criança , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Hipofosfatasia/epidemiologia , Hipofosfatasia/genética , Masculino , Mutação/genética , Fenótipo
7.
Artigo em Inglês | MEDLINE | ID: mdl-33824679

RESUMO

Objective: To explore the possible mechanism of electroacupuncture to improve insulin sensitivity in type 2 diabetes rats. Methods: Fourteen Zucker Diabetic Fatty (ZDF) rats were randomly divided into two groups: a model group and an electroacupuncture group, with 7 rats in each group. Seven Zucker Lean (ZL) rats served as a control group. All rats were fed with Purina #5008 for 4 weeks, and the electroacupuncture group received 4-week electroacupuncture intervention, while the control group and model group received no intervention. We measured fasting blood glucose (FBG) on the fourth weekend. After 4 weeks of intervention, the expression levels of insulin receptor substrate-1 (IRS-1) tyrosine phosphorylation, IRS-1 serine/threonine phosphorylation, and GLUT4 in quadriceps femoris muscles were detected by western Blot. Results: Compared with the model group, the electroacupuncture group had a lower level of fasting blood glucose, serum insulin level, and insulin resistance index (P < 0.05). The electroacupuncture group had lower IRS-1 serine/threonine phosphorylation than the model group, with the difference showing statistical significance (P < 0.05). Furthermore, the mean score (MS) of the control group showed the lowest phosphorylation expression, followed by the electroacupuncture group, while the model group had the highest level of phosphorylated protein expression. The level of IRS-1 tyrosine phosphorylation at Tyr895 sites was compared, and the result showed that there was no significant difference between the electroacupuncture group and the control group (P > 0.05), and the electroacupuncture group had higher phosphorylation expression than the model group (P < 0.05). Compared with the control group and the model group, the expression level of GLUT4 protein in the electroacupuncture group was significantly increased (P < 0.05). Conclusion: Electroacupuncture has the effect to improve the insulin sensitivity of type 2 diabetic ZDF rats by reducing fasting blood glucose, insulin level, and insulin resistance index, effectively up regulating the expression of GLUT4 protein in quadriceps femoris muscle. The mechanism is related to the regulation of skeletal muscle IRS-1 serine/threonine and tyrosine phosphorylation levels.

8.
Zhongguo Zhen Jiu ; 41(2): 217-20, 2021 Feb 12.
Artigo em Chinês | MEDLINE | ID: mdl-33788474

RESUMO

Given that the biomechanical theory cannot well explain the therapeutic effect of fan-ashi point (a special site that may relieve pain by pressing), the skeletal muscle tension is adopted and it is attempted to interpret the mechanism of the curative effect and the effect onset of fan-ashi point. It is viewed that the longitudinal tension conduction and transverse tension conduction pathways of skeletal muscle are the material basis of the effect onset of fan-ashi point. Hence, acupuncture at fan-ashi point may alter the longitudinal or transverse tension conduction of skeletal muscle to relieve muscle and tendon pain.


Assuntos
Terapia por Acupuntura , Acupuntura , Dor Musculoesquelética , Pontos de Acupuntura , Humanos , Músculo Esquelético
9.
Pediatr Investig ; 4(3): 198-203, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33150314

RESUMO

Importance: Graves' disease (GD) is rare in children under the age of 7 years. Children with this disease exhibit greater thyrotoxicity at diagnosis and require a longer course of medical therapy, compared with pubertal and postpubertal children and adults. Objective: To investigate the clinical features and identify predictors of remission in children under the age of 7 years with GD. Methods: This retrospective study included 77 children who were diagnosed with GD under the age of 7 years and were treated in the Department of Endocrinology, Beijing Children's Hospital from 2010 to 2018. Clinical manifestations, laboratory data, and follow-up records were collected for all patients. Children who achieved remission of treatment with methimazole were compared with those who had persistent disease to identify which variables were associated with remission; multiple logistic regression and Cox regression analyses were used to evaluate interactions among predictive variables. Results: Sixty-three boys and 14 girls were included; the median age at diagnosis was 4.2 years (interquartile range: 3.2-5.3 years). Forty-six (56.7%) patients had no family history of thyroid disease, 17 patients had family history of thyroid disease and 14 patients with unknown family history. Of the 77 patients, 18 (23.4%) patients achieved remission of treatment with methimazole and 59 patients did not; moreover, 51 (66.2%) had Graves' ophthalmopathy. Univariate analyses revealed no significant differences between the remission group and non-remission group in terms of age at diagnosis, sex, initial goiter size, or initial thyroid hormone concentration. However, there were a trend of correlation between the initial level of thyroid peroxidase antibody (TPOAb) and remission status (univariate analysis OR 1.002, P = 0.038; multivariate analysis OR 1.004, P = 0.019). Similar results were observed in univariate analysis of the initial thyrotropin receptor antibody (TRAb) level, but this association was not significant in multivariate analysis. Cox regression analyses revealed that children with high TRAb level required longer duration of remission, compared with low TRAb level (OR 0.950, 95% CI 0.904-0.997, P = 0.037). Interpretation: Initial TRAb level was an independent predictor of remission outcome in young children under the age of 7 years with GD. Initial TRAb level may predict the likelihood of remission in patients with young-age-of-onset GD.

11.
Pediatr Investig ; 4(1): 29-36, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32851339

RESUMO

Importance: Octreotide is an off-label medicine for congenital hyperinsulinism (CHI), but is currently widely used for treatment of patients with CHI. Thus far, variable efficacy and adverse effects have been reported for octreotide. Objective: The present study evaluated the efficacy and safety of a subcutaneous octreotide injection for treatment of diazoxide-unresponsive CHI in China. Methods: This study was a retrospective review of children with diazoxide-unresponsive CHI who were treated with a subcutaneous octreotide injection. The efficacy and side effects of the treatment were assessed. Results: Twenty-five Chinese children (15 boys) were involved in the study. Their median age at diagnosis was 8 weeks (range, 1-24 weeks) and median age at the final follow-up was 1.8 years (range, 0.3-3.3 years). Octreotide therapy effectively increased blood glucose levels in all patients. The intravenous glucose infusion rate was reduced in all patients. Twenty-one patients gradually discontinued the intravenous glucose infusion while receiving octreotide combined with frequent carbohydrate/glucose-rich feeding. Among patients with a monoallelic ATP-sensitive potassium (KATP) channel mutation, 50.0% showed gradual remission during follow up, indicating that the octreotide treatment may be a feasible alternative to surgery, especially for patients with monoallelic KATP-channel mutations. Transient elevation of liver enzymes occurred in 20.0% of patients, while asymptomatic gallbladder pathology occurred in one patient. The growth rates of these patients were normal (height standard deviation score was 0.3 ± 1.5 at the final follow-up). Interpretation: Octreotide was a well-tolerated, effective therapy for most children with diazoxide-unresponsive CHI.

12.
Clin Chim Acta ; 509: 83-90, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32470406

RESUMO

Thirty patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS) deficiency, which is a rare autosomal recessive disorder caused by HMGCS2 gene mutation are known. Here, we present four new patients with this disease. The characteristics including several metabolites of patients were recorded. Next-generation targeted sequencing and multiple sequence alignment of PCR amplified products allowed for mutational analysis of HMGCS2. Minigene assay transcript analysis confirmed pathogenicity of a splice site mutation. All cases had recurrent episodes with infections while they had no symptoms during intermissions. Patient 1, a girl, showed recurrent severe metabolic acidosis after infections from 8 months old and presented with weakness, vomiting and lethargy but had normal blood glucose. After treatment, she revived completely. Patients 2, 3 and 4 were boys who showed episodes of hypoglycemia since 8, 27 and 10 months of age, respectively. Glucose infusion reversed the symptoms. All four patients had hepatomegaly and abdominal imaging showed fatty livers. Serum free fatty acid increased. Urinary dicarboxylic acids and urinary 4-hydroxy-6-methyl-2pyrone presented. Diagnosis was confirmed by HMGCS2 gene analysis and 7 mutations (p.R188H, p.F420S, p.R206C, IVS2 + 1G > T, p.E401*, p.A450Pfs*7 and p.Q427*) of this gene were found. Here we report on the characteristics and genetics of four new patients with HMGCS deficiency. This study will enrich our knowledge of this rare autosomal recessive disorder.


Assuntos
Acil Coenzima A , Hipoglicemia , Acil Coenzima A/deficiência , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Mutação
14.
Acupunct Med ; 38(1): 15-24, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31526013

RESUMO

OBJECTIVES: To assess the evidence for the efficacy of acupuncture for non-specific low back pain (NSLBP), compared with sham or placebo therapies. METHODS: We searched Cochrane CENTRAL to December 2016, and conducted searches from 1980 to December 2016 in PubMed, MEDLINE and Embase. There were no regional restrictions applied. We included only randomised controlled trials of adults with NSLBP. Placebo/sham procedures were required of the control interventions. The trials were combined using meta-analysis when the data reported allowed for statistical pooling. RESULTS: 14 trials (2110 participants) were included in the review, and 9 were included in the meta-analysis. Immediately after the acupuncture treatment we found statistically significant differences in pain reduction between acupuncture and sham or placebo therapy (standardised mean difference (SMD) -0.40, 95% CI -0.54 to -0.25; I2 7%; 753 participants; 9 studies), but there were no differences in function (weighted mean difference (WMD) -1.05, 95% CI -3.61 to 1.52; I2 79%; 462 participants; 4 studies). At follow-up, there were significant differences in pain reduction (SMD -0.46, 95% CI -0.82 to -0.09; I2 67%), but not in function (WMD -0.98, 95%CI -3.36 to 1.40; I2 87%). We conducted subgroup analyses both immediately after treatment and at follow-up. CONCLUSION: There is moderate evidence of efficacy for acupuncture in terms of pain reduction immediately after treatment for NSLBP ((sub)acute and chronic) when compared to sham or placebo acupuncture. REGISTRATION: PROSPERO registration no. CRD42017059438.


Assuntos
Terapia por Acupuntura/métodos , Dor Lombar/terapia , Avaliação da Deficiência , Humanos , Medição da Dor , Ensaios Clínicos Controlados Aleatórios como Assunto
15.
BMC Pediatr ; 19(1): 414, 2019 11 06.
Artigo em Inglês | MEDLINE | ID: mdl-31690265

RESUMO

BACKGROUND: Obesity is associated with many chronic diseases including cortisol rhythm disorder and low testosterone. Furthermore, studies on obese children are quite limited and no concordance results have been obtained, especially for boys in puberty. Moreover, the sample sizes of previous studies were small, and were not representative. METHODS: We conducted a cross-sectional survey including 1148 boys aged 6-14 years, they were divided into overweight/obesity (OW/OB) group and normal weight (NW) group. Puberty status was assessed according to Tanner scale and testicular volume. Serum levels of pregnenolone, 17-OH progesterone, corticosterone, dehydroepiandrosterone (DHEA), and androstenedione were detected by LC-MS. Serum free testosterone and sex hormone-binding globulin (SHBG) levels were measured by chemiluminescence immunoassay. RESULTS: The 17-OH progesterone, DHEA, androstenedione and free testosterone levels of OW/OB boys at prepubertal stage or at the age 6 = < 10 years group were higher than those of the NW boys (all the P values were < 0.01). Furthermore, androstenedione and free testosterone levels were lower in OW/OB boys at late puberty, and the trend continued at the post pubertal stage for FT (P < 0.01-0.05). DHEA, androstenedione, and FT levels persisted to be higher at the 10~ < 12 years in OW/OB boys but not for 17-OH progesterone. FT level was lower in the OW/OB group at the 12~ < 15 years group. The SHBG levels in the OW/OB boys were lower than those in the NW ones at the 6~12 years group, and prepubertal to early pubertal stage. CONCLUSIONS: Premature adrenarche is more likely in OW/OB boys. More attention should be given to the lower androgen levels of OW/OB boys at late pubertal and post pubertal stages.


Assuntos
Corticosteroides/sangue , Obesidade Pediátrica/sangue , Puberdade/sangue , 17-alfa-Hidroxiprogesterona/sangue , Adolescente , Fatores Etários , Androstenodiona/sangue , Criança , Corticosterona/sangue , Estudos Transversais , Desidroepiandrosterona/sangue , Humanos , Masculino , Tamanho do Órgão , Sobrepeso/sangue , Pregnenolona/sangue , Puberdade Precoce/sangue , Globulina de Ligação a Hormônio Sexual/análise , Testículo/anatomia & histologia , Testosterona/sangue
16.
Orphanet J Rare Dis ; 14(1): 255, 2019 11 14.
Artigo em Inglês | MEDLINE | ID: mdl-31727177

RESUMO

OBJECTIVE: This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. METHODS: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 40 previously published unrelated Chinese KS patients were summarized. RESULT: Genetic sequencing identified six KMT2D variants (c.3926delC, c.5845delC, c.6595delT, c.12630delG, c.16294C > T, and c.16442delG) and one KDM6A variant (c.2668-2671del). Of them, 4 variants (c.3926delC, c.5845delC, c.12630delG, and c.16442delG) in KMT2D gene and the variant (c.2668-2671del) in KDM6A gene were novel. Combining with previously published Chinese KS cases, the patients presented with five cardinal manifestations including facial dysmorphism, intellectual disability, growth retardation, fingertip pads and skeletal abnormalities. In addition, 29.5% (5/17) patients had brain abnormalities, such as hydrocephalus, cerebellar vermis dysplasia, thin pituitary and white matter myelination delay, corpus callosum hypoplasia and Dandy-Walker malformation. CONCLUSION: In this report, five novel variants in KMT2D/KDM6A genes are described. A subset of Chinese KS patients presented with brain abnormalities that were not previously reported. Our study expands the mutational and phenotypic spectra of KS.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Face/anormalidades , Doenças Hematológicas/genética , Doenças Hematológicas/patologia , Doenças Vestibulares/genética , Doenças Vestibulares/patologia , Grupo com Ancestrais do Continente Asiático , Proteínas de Ligação a DNA/genética , Exoma/genética , Face/patologia , Histona Desmetilases/genética , Humanos , Proteínas de Neoplasias/genética , Fenótipo
17.
J Diabetes Res ; 2019: 4845729, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31583249

RESUMO

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG). Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12, and 13 of wear were compared with venous BG. During these days, the venous BG results were obtained either 4 or 7 times per day. Results: The accuracy was evaluated against venous BG, with 469 of 469 (100.0%) sensor and venous BG pairs within consensus error grid zones A and B, including 94.7% in zone A. The overall mean absolute relative difference (MARD) was 11.67%. The MARD of blood glucose lower than 4.0 mmol/L (MARD = 16.89%) was higher than blood glucose between 4 and 10 mmol/L (MARD = 11.58%) and blood glucose higher than 10 mmol/L (MARD = 7.79%). Compared to venous BG, the MARDs of wear days 2, 3, 6, 7, 12, and 13 were 11.53%, 9.66%, 11.79%, 10.89%, 13.18%, and 13.92%, respectively, with no statistically significant difference (P = 0.25). The median ARD was highest when the glucose decreased >0.11 mmol/L/min (20.27%) and lower than 10.00% when the glucose changed between 0.06 and 0.11 mmol/L/min, changed <0.06 mmol/L/min, and increased >0.11 mmol/L/min. Conclusions: The accuracy of the system is good and remains stable over 14 days of wear; however, the accuracy depends on the glucose level and rates of glucose concentration changes.


Assuntos
Automonitorização da Glicemia/instrumentação , Glicemia/análise , Diabetes Mellitus Tipo 1/sangue , Adolescente , Automonitorização da Glicemia/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Sensibilidade e Especificidade
18.
Front Pharmacol ; 10: 850, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31402870

RESUMO

Background: Tanshinone IIA (Tan IIA), a lipophilic constituent from Salvia miltiorrhiza Bunge, has shown a promising cardioprotective effect including anti-atherosclerosis. This study aims at exploring Tan IIA's anti-inflammatory and immune-regulating roles in stabilizing vulnerable atherosclerotic plaque in ApoE-deficient (ApoE-/-) mice. Methods: Male ApoE-/- mice (6 weeks) were fed with a high-fat diet for 13 weeks and then randomized to the model group (MOD) or Tan IIA groups [high dose: 90 mg/kg/day (HT), moderate dose: 30 mg/kg/day (MT), low dose: 10 mg/kg/day (LT)] or the atorvastatin group (5 mg/kg/day, ATO) for 13 weeks. Male C57BL/6 mice (6 weeks) were fed with ordinary rodent chow as control. The plaque stability was evaluated according to the morphology and composition of aortic atherosclerotic (AS) plaque in H&E staining and Movat staining sections by calculating the area of extracellular lipid, collagenous fiber, and foam cells to the plaque. The expression of the Toll-like receptor 4 (TLR4)/myeloid differentiation factor88 (MyD88)/nuclear factor-kappa B (NF-κB) signal pathway in aorta fractions was determined by immunohistochemistry. Serum levels of blood lipid were measured by turbidimetric inhibition immunoassay. The concentrations of tumor necrosis factor-α (TNF-α) and monocyte chemoattractant protein-1 (MCP-1) were detected by cytometric bead array. Results: Tan IIA stabilized aortic plaque with a striking reduction in the area of extracellular lipid (ATO: 13.15 ± 1.2%, HT: 12.2 ± 1.64%, MT: 13.93 ± 1.59%, MOD: 18.84 ± 1.46%, P < 0.05) or foam cells (ATO: 16.05 ± 1.26%, HT: 14.88 ± 1.79%, MT: 16.61 ± 1.47%, MOD: 22.08 ± 1.69%, P < 0.05) to the plaque, and an evident increase in content of collagenous fiber (ATO: 16.22 ± 1.91%, HT: 17.58 ± 1.33%, MT: 15.71 ± 2.26%, LT:14.92 ± 1.65%, MOD: 9.61 ± 0.7%, P < 0.05) to the plaque than that in the model group, concomitant with down-regulation of the protein expression of TLR4, MyD88, and NF-κB p65, and serum level of MCP-1 and TNF-α in a dose-dependent manner. There were no differences in serum TC, LDL, HDL, or TG levels between ApoE-/- mice and those treated with atorvastatin. Conclusions: These results suggest that Tan IIA could stabilize vulnerable AS plaque in ApoE-/- mice, and this anti-inflammatory and immune-regulating effect may be achieved via the TLR4/MyD88/NF-κB signaling pathway.

19.
Zhongguo Gu Shang ; 32(6): 544-548, 2019 Jun 25.
Artigo em Chinês | MEDLINE | ID: mdl-31277539

RESUMO

OBJECTIVE: To detect the core muscle group in the patients with myofascial pain syndromes(MPS) by using the surface electromyography; to detect the distribution of muscle fiber type by the analysis of the median frequency and the slope of the median frequency. METHODS: From October 2017 to March 2018, there were 100 patients with the MPS, including 45 males and 55 females; the average age was 48.5 years old, ranging from 29 to 76 years old. There were 40 cases of left back pain and 60 cases of right back pain. The course of illness was more than 6 months. Another 40 healthy patients without pain in the waist were included in the control group, 20 males and 20 females; the average age was 47.3 years old, ranging from 29 to 76 years old. All the patients had different degrees of back pain and muscle stiffness, which were diagnosed as lumbar fasciitis by clinical and imaging examination. Surface electromyography was used to measure the characteristics of the lumbar core muscles (multifissions, iliocostal muscles, and longest muscle) of the three groups in the Biering-Sorensen testing, such as median frequency(MF) and absolute slope of median frequency (MFs). RESULTS: The MF values of the multifidus muscle in the three groups were as follows:the left side of the non-pain group was 133.88±26.61, and the right side was 131.39±29.81; left side of lift side pain group 117.29±10.93, right side 133.70±17.81; in the right pain group, the left side was 131.36±17.37, and the right side was 118.28±13.57. The MF values of the iliocostal muscle in the three groups were:106.94±28.01 on the left side of the non-pain group, 114.68±18.96 on the right side; left side of lift side pain group 93.95±11.17, right side 107.60±27.86; in the right pain group, the left side was 105.93±15.52, and the right side was 97.27±19.27. The MF values of the longest muscle in the three groups were:109.24±26.20 on the left side of the non-pain group, 112.58±17.70 on the right side. Left side of left side pain group 95.58±10.83, right side 108.79±26.39; in the right pain group, the left side was 106.50±17.98, and the right side was 98.20±11.16. The MFs values of the multifidus muscle in the three groups were:0.221±0.109 on the left side of the non-pain group, and 0.259±0.169 on the right side; left side of left side pain group 0.318±0.184, right side 0.210±0.159; in the right pain group, the left side was 0.258±0.169, and the right side was 0.386±0.166. The MFs values of the iliocostal muscles in the three groups were:0.241±0.158 for the left side of the non-pain group, and 0.238±0.128 for the right side. Left side of left side pain group 0.330±0.208, right side 0.252±0.171; in the right side pain group, left side 0.249±0.150, right side 0.343± 0.144. The MFs values of the longest muscle of the three groups were:0.244±0.252 on the left side of the non-pain group, and 0.210±0.128 on the right side; left side of left side pain group 0.348±0.255, right side 0.241±0.224; in the right pain group, the left side was 0.239±0.155, and the right side was 0.334±0.233. There were no statistically significant differences in MF and MFs values of the left and right lumbar multifidus muscle, iliocostal muscle and longest muscle in the non-pain group(P>0.05). MF values of the pain side multifidus muscle, iliocostal muscle and longest muscle in the lumbago group were lower than those in the non-pain group(P<0.05). MFs values of the painful side multifidus muscle, iliocostal muscle and longest muscle in the low back pain group were higher than those in the non-pain group(P<0.05). CONCLUSIONS: The muscle fatigue degree of the back muscle in the pain side of patients with MPs is decreased, and the muscle fiber type is dominated by II muscle fiber.


Assuntos
Dor Lombar , Fibras Musculares Esqueléticas , Síndromes da Dor Miofascial , Adulto , Idoso , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fadiga Muscular , Músculo Esquelético
20.
Drug Deliv ; 26(1): 566-574, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31104521

RESUMO

To improve the liposolubility and blood-brain barrier permeability of magnoflorine, a new formulation of magnoflorine-phospholipid complex was prepared, characterized, and pharmacologically evaluated in the chronic unpredictable mild stress animal model. In this paper, the magnoflorine-phospholipid complex was synthesized and its characterization was determined. The antidepressant-like and antioxidant activity of magnoflorine-phospholipid complex was investigated by behavioral tests and western blotting analysis. As a result, the magnoflorine-phospholipid complex displayed high encapsulation efficiency and significantly improved the oil-water participate coefficient. In vivo blood-brain distribution study, the magnoflorine-phospholipid complex extended the duration of magnoflorine in blood and help magnoflorine to permeate the blood-brain barrier into brain. In behavioral tests, the magnoflorine-phospholipid complex significantly decreased immobility time compared to model control group in both FST and TST. Furthermore, the magnoflorine-phospholipid complex increased the expression of antioxidative stress-related proteins by the western blotting analysis. These findings strongly suggest that the phospholipid complex could significantly improve liposolubility, drug properties of magnoflorine and help magnoflorine permeate blood-brain barrier and exert the antidepressant effect.


Assuntos
Antidepressivos/uso terapêutico , Aporfinas/uso terapêutico , Barreira Hematoencefálica/metabolismo , Depressão/tratamento farmacológico , Portadores de Fármacos/química , Fosfolipídeos/química , Animais , Antidepressivos/administração & dosagem , Antidepressivos/sangue , Aporfinas/administração & dosagem , Aporfinas/sangue , Comportamento Animal/efeitos dos fármacos , Depressão/metabolismo , Modelos Animais de Doenças , Masculino , Camundongos Endogâmicos ICR , Permeabilidade
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