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1.
Chinese Acupuncture & Moxibustion ; (12): 608-612, 2022.
Article in Chinese | WPRIM | ID: wpr-939502

ABSTRACT

OBJECTIVE@#To observe the clinical effect of acupuncture for perimenopausal early-wake insomnia.@*METHODS@#A total of 60 patients with perimenopausal early-wake insomnia were randomly divided into an observation group (30 cases, 3 cases dropped off) and a control group (30 cases, 2 cases dropped off, 2 cases were removed). In the observation group, acupuncture was applied at Baihui (GV 20), Yintang (GV 24+), Anmian (Extra), Hegu (LI 4), Shenmen (HT 7), Taichong (LR 3), Taixi (KI 3), etc., once every other day, 3 times a week. In the control group, oryzanol tablets were taken orally, 20 mg each time, 3 times a day. Both groups were treated for 4 weeks. Before and after treatment, the sleep actigraphy (ACT) was used to measure the effective sleep time, sleep quality, wake-up time, wake-up frequency, each wake-up time, and the Pittsburgh sleep quality index (PSQI) score and early-wake score were compared in the two groups, and the clinical effect was assessed.@*RESULTS@#After treatment, compared before treatment, the effective sleep time was prolonged and the sleep quality was improved (P<0.05), the wake-up time, each wake-up time were shortened and wake-up frequency was decreased (P<0.05), the PSQI score and early-wake score were decreased (P<0.05) in the observation group. After treatment, the wake-up frequency, PSQI score and early-wake score were decreased in the control group (P<0.05). The effective sleep time, sleep quality, wake-up time, wake-up frequency, each wake-up time, PSQI score and early-wake score after treatment in the observation group were superior to the control group (P<0.05). The total effective rate was 88.9% (24/27) in the observation group, which was higher than 38.5% (10/26) in the control group (P<0.05).@*CONCLUSION@#Acupuncture can increase the effective sleep time and improve sleep quality in patients with perimenopausal early-wake insomnia.


Subject(s)
Humans , Acupuncture Points , Acupuncture Therapy , Perimenopause , Sleep Initiation and Maintenance Disorders/therapy , Treatment Outcome
2.
Chinese Acupuncture & Moxibustion ; (12): 269-274, 2021.
Article in Chinese | WPRIM | ID: wpr-877603

ABSTRACT

OBJECTIVE@#To observe the effect of ginger-separated moxibustion on fatigue state and intestinal flora in patients with chronic fatigue syndrome (CFS).@*METHODS@#A total of 62 patients with CFS were randomly divided into an observation group (31 cases, 3 cases dropped off) and a control group (31 cases, 2 cases dropped off). The patients in the control group were treated with normal diet and moderate exercise; on the basis of the control group, the patients in the observation group were treated with ginger-separated moxibustion at Zhongwan (CV 12), Shenque (CV 8) and Guanyuan (CV 4), 30 min each time, once every other day, three times a week. Both groups were intervened for 4 weeks. Before and after treatment, the fatigue scale-14 (FS-14) was used to observe the improvement of fatigue state, and 16S rRNA detection technology was used to detect the distribution of intestinal flora.@*RESULTS@#Compared before treatment, the FS-14 score was reduced after treatment in the observation group (@*CONCLUSION@#The ginger-separated moxibustion could significantly improve the fatigue state in CFS patients, which may be related to the regulation of intestinal flora structure and the repair of intestinal barrier.


Subject(s)
Humans , Acupuncture Points , Fatigue Syndrome, Chronic/therapy , Gastrointestinal Microbiome , Zingiber officinale , Moxibustion , RNA, Ribosomal, 16S
3.
Chinese Acupuncture & Moxibustion ; (12): 816-820, 2020.
Article in Chinese | WPRIM | ID: wpr-826649

ABSTRACT

OBJECTIVE@#To observe the effect of ginger-separated moxibustion on fatigue, sleep quality and depression in the patients with chronic fatigue syndrome.@*METHODS@#A total of 62 patients with chronic fatigue syndrome were randomized into an observation group (31 cases, 3 cases dropped off) and a control group (31 cases, 2 cases dropped off). In the control group, the patients had normal diet and proper physical exercise. In the observation group, on the basis of the control group, the ginger-separated moxibustion was added at Zhongwan (CV 12), Shenque (CV 8) and Guanyuan (CV 4), 30 min each time, once every two days, 3 times weekly. Separately, before treatment and after 4 weeks of treatment, the MOS item short form health survey (SF-36), the Pittsburgh sleep quality index (PSQI) scale and the self-rating depression scale (SDS) were adopted to evaluate the degrees of fatigue, sleep quality and depression in the patients of the two groups.@*RESULTS@#In the observation group, the score of each item of SF-36, the score of each item of PSQI and SDS score after treatment were all improved significantly as compared with those before treatment respectively (<0.05, <0.01). In the control group, the scores of overall health, vitality and mental health in SF-36 and the score of sleep time of PSQI after treatment were improved as compared with those before treatment respectively (<0.05). After treatment, the score of each item of SF-36, the scores of sleep quality, sleep time, sleep efficiency and sleep disorders of PSQI, as well as SDS score in the observation group were all better than those in the control group respectively (<0.01, <0.05). The score of SF-36 was relevant to the scores of PSQI and SDS in the patients of chronic fatigue syndrome ( =0.331, <0.05; =-0.706, <0.01). The improvement value of SF-36 score was closely related to the improvement value of SDS score in the observation group ( =-0.657, <0.01).@*CONCLUSION@#The ginger-separated moxibustion effectively relieves fatigue and depression condition and improves sleep quality in the patients with chronic fatigue syndrome. The fatigue condition is relevant with sleep quality and depression condition to a certain extent in the patients.

4.
Chinese Medical Journal ; (24): 188-193, 2018.
Article in English | WPRIM | ID: wpr-342068

ABSTRACT

<p><b>BACKGROUND</b>Tat-interacting protein 30 (TIP30) has been reported to be a tumor suppressor, with reduced or absent expression in various tumors. However, its role in bladder urothelial cancer (BUC) has not been investigated. Therefore, herein, we investigated the expression of TIP30 protein in BUC and normal bladder mucosa and the clinical significance of TIP30 expression in the prognosis of BUC.</p><p><b>METHODS</b>We reviewed data from 79 cases of BUC and 15 adjacent tissue samples from 79 patients treated at our institution between 2004 and 2007. TIP30 expression was examined by immunohistochemistry. The relationship between TIP30 expression and tumor stage, histological grade, and survival was analyzed. Differences between groups were evaluated using the t-test or matched-pairs test, and differences in the survival rates were analyzed with the log-rank test.</p><p><b>RESULTS</b>TIP30 protein expression was significantly reduced in BUC tissue (t = -6.91, P < 0.05) compared with normal tissue samples, and in invasive bladder cancer (t = 10.89, P < 0.05) compared with superficial bladder cancer. TIP30 protein expression differed significantly among different differentiated groups classified either according to the World Health Organization (2004, F = 17.48, P < 0.01) or World Health Organization (1973, F = 10.68, P < 0.01). TIP30 protein expression was significantly reduced in high-grade papillary urothelial carcinoma compared with papillary urothelial neoplasm of low malignant potential (P < 0.05) and low-grade papillary urothelial carcinoma (P < 0.05). Meanwhile, TIP30 protein expression was significantly reduced in Grade III BUC, compared with Grade I (P < 0.05) and Grade II (P < 0.05). Patients with low TIP30 expression showed a higher incidence of disease progression than those with high TIP30 expression (t = 2.63, P < 0.05). Kaplan-Meier survival analysis showed a strong positive relationship between TIP30 expression and overall survival (OS) (χ2 = 17.29, P < 0.05).</p><p><b>CONCLUSIONS</b>TIP30 expression was associated with clinical tumor stage in BUC, suggesting that it might play an important role in disease progression. Furthermore, TIP30 might predict postoperative OS. Thus, its evaluation might be useful for predicting prognosis.</p>

5.
Chinese Journal of Contemporary Pediatrics ; (12): 925-929, 2018.
Article in Chinese | WPRIM | ID: wpr-776692

ABSTRACT

Kallmann syndrome (KS) is a rare pediatric disease with major manifestations of olfactory dysfunction and hypogonadotropic hypogonadism. Five children (4 boys and 1 girl) with KS reported in this article were aged between 6 months and 19 years at the time when they attended the hospital. All the children had the clinical manifestation of hypogonadotropic hypogonadism; in addition, three children had olfactory dysfunction (two were found to have olfactory bulb dysplasia on magnetic resonance imaging), one had cleft lip and palate, and one had micropenis and cryptorchidism with right renal agenesis during infancy. All the five children had normal karyotype and their parents had normal clinical phenotypes. The uncle of one child had underdeveloped secondary sexual characteristics and olfactory disorder since childhood. High-throughput sequencing found two known heterozygous missense mutations in the FGFR1 gene, i.e., c.1097C>T(p.P366L) and c.809G>C(p.G270A), in two children. One child had a novel frameshift mutation, c.1877_1887/p.S627Tfs*6, in the KAL1 gene; this deletion mutation caused a frameshift in base sequence and produced truncated proteins, which led to a significant change in protein structure, and thus it was highly pathogenic. It is concluded that KS has great clinical and genetic heterogeneity and can be accompanied by incomplete dominant inheritance and that gene detection helps with the diagnosis of this disease.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , DNA Mutational Analysis , Extracellular Matrix Proteins , Heterozygote , Hypogonadism , Kallmann Syndrome , Mutation , Nerve Tissue Proteins , Receptor, Fibroblast Growth Factor, Type 1
6.
Journal of Zhejiang University. Science. B ; (12): 807-814, 2018.
Article in English | WPRIM | ID: wpr-1010421

ABSTRACT

OBJECTIVE@#The aim of this study was to explore the association of dopamine receptor D2 (DRD2) polymorphism and alleviation of obesity in children and adolescents after 8-year follow-up.@*METHODS@#This retrospective cohort study included obese children and adolescents with a follow-up period of 8 years. Baseline clinical characteristics and DRD2 polymorphisms (including rs1076562, rs2075654, and rs4586205) were extracted from medical records. A follow-up visit was performed in May 2017 to collect related data including height, weight, diet compliance, and exercise compliance.@*RESULTS@#One hundred and nine obese children and adolescents were included in the current study. Among three DRD2 single nucleotide polymorphisms, only rs2075654 had a statistically significant association with alleviation of obesity, as the alleviation rate for minor allele carriers (68.6% for TC+TT) was higher compared to the major allele homozygote (43.3% for CC). After adjusting for all related factors, the hazard ratio of rs2075654 minor allele carriers for the alleviation of obesity was 3.34 (95% confidence interval (CI): 1.30‒8.58).@*CONCLUSIONS@#The rs2075654 polymorphism of DRD2 is related to long-term obesity alleviation in obese Chinese children and adolescents.


Subject(s)
Adolescent , Child , Female , Humans , Male , Body Mass Index , Obesity/genetics , Polymorphism, Single Nucleotide , Receptors, Dopamine D2/genetics , Retrospective Studies
7.
Asian Pacific Journal of Tropical Medicine ; (12): 574-577, 2015.
Article in English | WPRIM | ID: wpr-820507

ABSTRACT

OBJECTIVE@#To explore the expression of transferrin (Tf) and transferrin receptor (TfR) in hematoma brain tissue at different stage after intracerebral hemorrhage (ICH) in rats.@*METHODS@#ICH rats model were established by collagenase method, and rats were sacrificed at 24 h, 72 h, 7 d and 14 d after operation. The levels of Tf and TfR in different periods of rats were detected by immunohistochemical method, and correlation between two groups was analyzed.@*RESULTS@#Tf, TfR-positive cells at each time after operation in observation group were significantly higher than that in control group (P < 0.05). Tf, TfR-positive cells began to increase from 24 h after the operation and reached the peak 72 h-7 d after surgery, but then gradually decreased. Tf was mainly expressed in nucleus and cytoplasm of neurons and glial cells around the hematoma, but TfR was mainly expressed in nucleus and cytoplasm of neurons and choroid plexus endothelial cells. Correlation analysis showed that the Tf-positive cell was significantly positively correlated with TfR-positive cell expression (r = 0.447, P = 0.022).@*CONCLUSIONS@#Tf and TfR were important transporters in brain tissue excessive load iron transport after ICH, and detecting the expression levels of the two indicators can provide a reference for prognosis treatment in ICH.

8.
Chinese Journal of Contemporary Pediatrics ; (12): 1124-1130, 2015.
Article in Chinese | WPRIM | ID: wpr-279955

ABSTRACT

<p><b>OBJECTIVE</b>To study the effects of intrauterine growth restriction (IUGR) and high-fat diet on the growth, lipid metabolism, and related hepatic genes in rat offspring.</p><p><b>METHODS</b>The rat model of IUGR was established by food restriction during the entire pregnancy. After weaning, 32 normal rats and 24 offspring rats with IUGR were randomly allocated to standard diet group or high-fat diet group. At the age of 10 weeks, fasting plasma glucose and blood lipid were examined. Additionally, pathological sections for hepatic tissues were observed, and the transcriptional levels of related hepatic genes were measured.</p><p><b>RESULTS</b>At the age of 10 weeks, there was a significant difference in body weight between IUGR rats and normal rats on standard diets, but no significant difference in body weight was observed between the two groups on high-fat diets. Compared with the normal rats, IUGR rats showed increased energy intake and increased levels of fasting plasma glucose, total cholesterol, and triglyceride on both standard and high-fat diets. High-fat diets reduced the concentration of serum triglyceride in both normal rats and IUGR rats. IUGR and high-fat diets aggravated the fat accumulation in the liver. Two-factor analysis of variance showed that at the age of 10 weeks, the expression of genes related to lipid metabolism in the liver, PGC-1α, CPT-1, SREBF-2, HMGR, LDLR and SREBF-1, differed significantly between IUGR and normal rats. Compared with standard diets, high-fat diets increased the expression of PPARα, SREBF-1, SREBF-2, ABCG5, and CYP7A1 in both normal rats and IUGR rats. IUGR and high-fat diets had an interactive effect on LDLR expression.</p><p><b>CONCLUSIONS</b>Hyperlipidemia and fat accumulation in the liver observed in IUGR rats may be related to increased appetite and regulation disorder in genes related to fatty acid oxidation at the transcriptional level. High-fat diets may aggravate fat accumulation in the liver in rats, which may be related to increased expression of genes related to regulation of fatty acid synthesis at the transcriptional level and reduction in secretion of triglyceride.</p>


Subject(s)
Animals , Female , Male , Rats , Diet, High-Fat , Energy Intake , Fatty Acids , Fetal Growth Retardation , Metabolism , Lipids , Blood , Liver , Metabolism , Pathology , Rats, Sprague-Dawley , Transcription, Genetic
9.
Asian Pacific Journal of Tropical Medicine ; (12): 574-577, 2015.
Article in Chinese | WPRIM | ID: wpr-951610

ABSTRACT

Objective: To explore the expression of transferrin (Tf) and transferrin receptor (TfR) in hematoma brain tissue at different stage after intracerebral hemorrhage (ICH) in rats. Methods: ICH rats model were established by collagenase method, and rats were sacrificed at 24 h, 72 h, 7 d and 14 d after operation. The levels of Tf and TfR in different periods of rats were detected by immunohistochemical method, and correlation between two groups was analyzed. Results: Tf, TfR-positive cells at each time after operation in observation group were significantly higher than that in control group (P < 0.05). Tf, TfR-positive cells began to increase from 24 h after the operation and reached the peak 72 h-7 d after surgery, but then gradually decreased. Tf was mainly expressed in nucleus and cytoplasm of neurons and glial cells around the hematoma, but TfR was mainly expressed in nucleus and cytoplasm of neurons and choroid plexus endothelial cells. Correlation analysis showed that the Tf-positive cell was significantly positively correlated with TfR-positive cell expression (r = 0.447, P = 0.022). Conclusions: Tf and TfR were important transporters in brain tissue excessive load iron transport after ICH, and detecting the expression levels of the two indicators can provide a reference for prognosis treatment in ICH.

10.
Chinese Journal of Epidemiology ; (12): 1005-1009, 2012.
Article in Chinese | WPRIM | ID: wpr-289595

ABSTRACT

Objective To investigate the lipid levels of Han ethnicity Chinese children at school-age,to provide objective data for the formulation of prevention and management strategy regarding dyslipidemia among children and adolescents.Methods 20 191 children (with 10 669 boys and 9522 girls) aged 7 to 16 years old from 6 representative geographical areas,including Beijing,Tianjin,Hangzhou,Shanghai,Chongqing and Nanning,were surveyed in a randomly selected clustered sample in China.Data on fasting blood triglyceride (TG),total cholesterol (TC),lowdensity lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) levels were measured.Non-high-density lipoprotein cholesterol (non-HDL-C) levels were calculated with data collection,entry,and collation were under the same criteria.Results (1) In the 7-16 year-old group,TG (P95) fluctuated between 1.26 mmol/L and 1.88 mmol/L,while TC (P95) was between 4.80 mmol/L and 5.46 mmol/L.LDL-C(P95) was between 2.67 mmol/L and 3.27 mmol/L while non-HDL-C (P95) was between 3.36 mmol/L and 3.91mmol/L,sugesting that age did not seem to be an affecting factor for the lipid level (P>0.05).The level of HDL-C (P5) fluctuated bctwcen 1.08 mmol/L and 0.83 mmol/L,and the dependability analysis on HDL-C and age showed statistically significant difference (P<0.01,r=-0.274).(2) In the 7-9 year-old group,the levels ofTG,TC,LDL-C and non-HDL-C of boys were lower but the HDL-C level was higher than in girls.However,in the 10-16 year-old group,the levels of five lipids of boys were all lower than in girls,with all the differences statistically significant (P<0.05).(3) The levels of TG,TC,LDL-C and non-HDL-C in the obese group were significantly higher than those in non-obesity group,as HDL-C was significantly lower than in non-obese group(P<0.01).Incidence rates of single and multiple dyslipidemia in obese group were significantly higher than in non-obese group (P<0.01).(4) Grouped by region,the abnormal rates of TG were descending,with the ranking as North (10.4%),Midwest (9.7%) and East (8.3%),while the abnormal rates of TC were descending with the ranking as Midwest (6.0%),North (5.2%)and East (4.8%).The abnormal rates of LDL-C were descending as the ranking of North (3.1%),East (2.6%) and Midwest (0.9%),with the abnormal rates of non-HDL-C were descending as Midwest (6.5%),North(4.2%)and East (3.6%).The abnormal rates of HDL-C were descending as Midwess (14.2%),North(5.7%) and East(5.5%).All the differences in the above-said items were statistically significant (P<0.05).(5) According to the standards of hyperlipidemia formulated by the American Academy of Pediatrics,the incidence rates of abnormal TG,TC,LDL-C,non-HDL-C,HDL-C were 9.4%,5.4%,2.2%,4.8%,8.6% respectively.Conclusion (1) Levels of lipids were affected by many factors,but age was not one of them in children and adolescents.However,HDL-C was declining along with the increase of age,to some extent.(2)Girls had a relatively protective tendency through the increasing HDL-C level when they entered the puberty years.(3)Lipids levels in non-obese group were significantly better than the obese group.(4)The lipids levels of children and adolescents in the Eastern region of the country were better than that in the northern and mid-western areas.

11.
Chinese Journal of Pediatrics ; (12): 114-118, 2009.
Article in Chinese | WPRIM | ID: wpr-360364

ABSTRACT

<p><b>OBJECTIVE</b>The incidences of nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) are very high in obese children, and insulin resistance may be the key point linking them together. Debates still remain as to whether NAFLD could be a component of MS. Some researchers reported that NAFLD was a composition of MS, while the others stated that NAFLD was an independent predicting factor of MS. Here we analyzed the prevalence of NAFLD and MS in 308 obese children who came to our endocrinology department from June 2003 to September 2006, and we also evaluated the relationship between NAFLD and MS in this group of obese children.</p><p><b>METHOD</b>Totally 308 obese children aged from 9 to 14 years with mean age of (10.7 +/- 2.6) years were enrolled. Two hundred and thirty one were males, and 77 were females. Body mass index (BMI), waist circumference (WC), biochemical indicators, liver B-mode ultrasound examination, oral glucose tolerance test (OGTT) and insulin releasing test were performed for all of the cases. The incidences of NAFLD including simple nonalcoholic fatty liver (SNAFL) and nonalcoholic steatohepatitis (NASH) as well as MS were calculated. Three subgroups were selected according to the diagnostic criteria: Group 1: OCWLD (obese children without liver disorder), Group 2: SNAFL and Group 3: NASH. The prevalence of MS, components of MS, free insulin, whole body insulin sensitivity index (WBISI), homeostasis model of insulin resistance (HOMA(IR)) were compared among these three subgroups.</p><p><b>RESULT</b>(1) Among all the obese children, the prevalence of NAFLD, SNAFL, NASH and MS was 65.9% (203), 45.5% (140), 20.5% (63) and 24.7% (76) respectively. Among all the MS children, the prevalence of NAFLD was 84.2% (64/76). The prevalence of MS was 29.3% (41/140) in SNAFL group and 36.5% (23/63) in NASH group, which was significantly higher than that of OCWLD group 11.4% (12/105) (P < 0.05), but no significant difference was found between SNAFL group and NASH group (P > 0.05). Moreover, there were significantly higher incidences in NASH group concerning every component of MS (hypertension, hyperlipidemia, hyperglycemia) compared with that of OCWLD group. The incidence of hypertension in SNAFL was significantly higher than that of OCWLD group. And the incidence of hyperlipidemia was markedly increased in NASH group compared with SNAFL group. NAFLD group had higher free insulin and more severe IR compared with that of OCWLD group. When OCWLD developed to SNAFL and NASH, free insulin and IR deteriorated calculated by HOMA-IR and WBISI. However there was no significant difference between NAFLD and MS children concerning free insulin and IR.</p><p><b>CONCLUSION</b>The prevalence of NAFLD and MS hits high in obese children. The prevalence of NAFLD was very high among children with MS and NAFLD and MS shared the common mechanism of IR. The higher prevalence of MS and higher frequencies of MS components were tightly associated with the development of NAFLD and severity of IR.</p>


Subject(s)
Adolescent , Child , Female , Humans , Male , Fatty Liver , Diagnosis , Epidemiology , Metabolism , Metabolic Syndrome , Diagnosis , Epidemiology , Obesity , Epidemiology , Prevalence
12.
Chinese Journal of Preventive Medicine ; (12): 739-741, 2008.
Article in Chinese | WPRIM | ID: wpr-242700

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship between pre-core G1896A point mutation of hepatitis B virus (HBV) and safety of breast feeding.</p><p><b>METHODS</b>Serum and breast milk samples were collected from 62 pregnant women of HBV DNA positive/HBeAg negative. PCR-solid phase hybridization was used to detect the point mutation in pre-core region G1896A of HBV from pregnant women, and HBV DNA loads in sera and breast milk were determined by fluorescence quantitative PCR (FQ-PCR).</p><p><b>RESULTS</b>The prevalence of point mutation was 61.3% (38/62) in 62 pregnant women with HBsAg positive/HBeAg negative. The positive rate of HBV DNA in breast milk of group with point mutation (28.9%) was similar to that of group without mutation (29.2%, chi2=0.0003, P>0.05). However, The positive rate of HBV DNA in breast milk of group with high HBV loads (56.0%) was significantly higher than that of group with low HBV loads (10.8%, chi2=14.79, P<0.01).</p><p><b>CONCLUSION</b>The point mutation in pre-core region G1896A of HBV dose not affect the positive rate of HBV DNA in breast milk and higher HBV DNA loads in serum of pregnant women might increase the risk of mother-infant transmission.</p>


Subject(s)
Female , Humans , Pregnancy , Breast Feeding , DNA, Viral , Blood , Hepatitis B , Hepatitis B virus , Genetics , Milk, Human , Virology , Point Mutation
13.
Chinese Journal of Cardiology ; (12): 1122-1125, 2007.
Article in Chinese | WPRIM | ID: wpr-299520

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the gene mutations on the cardiac sodium channel gene SCN5A in a Chinese family with Brugada syndrome.</p><p><b>METHOD</b>Polymerase chain reaction and DNA sequencing were used to screen gene mutations on the cardiac sodium channel gene SCN5A in all family members of a Chinese pedigree with Brugada syndrome, single strand conformation polymorphism analysis were performed in 136 normal controls to detect the mutations of SCN5A gene.</p><p><b>RESULT</b>Two heterozygosis mutations, which include a missense mutation (Y1494N) and a same sense mutation (A29A), were identified on SCN5A gene in the proband with Brugada syndrome and these mutations were not detected in other family members with Brugada syndrome and in controls.</p><p><b>CONCLUSION</b>We detected a reported polymorphism site (A29A) and a novel missense mutation (Y1494N) on SCN5A in this Chinese family with Brugada syndrome.</p>


Subject(s)
Adult , Female , Humans , Male , Asian People , Genetics , Brugada Syndrome , Genetics , Case-Control Studies , Muscle Proteins , Genetics , Mutation , Pedigree , Polymorphism, Single-Stranded Conformational , Sodium Channels , Genetics
14.
Journal of Applied Clinical Pediatrics ; (24)2004.
Article in Chinese | WPRIM | ID: wpr-639600

ABSTRACT

Objective To explore the plasma ghrelin levels in children and adolescents with short stature and the role of ghrelin in growth hormone-releasing hormone-growth hormone(GHRH-GH) axis.Methods One hundred and fifty-seven children(115 male,42 female) with short stature were selected.Fasting plasma sample was extracted from 10 mL vemous blood of the children with short stature.Insulin tolerance test and arginine stimulation test was performed initially to differential diagnosis.And blood samples was divided into 3 ca-tegories:37 cases of complete growth hormone deficiency (CGHD),52 cases of partial growth hormone deficiency(PGHD) and 68 cases of idiopathic short stature(ISS) during these two growth hormone(GH)provocative tests.Controls consisted of age and gender-match 20 health children.Plasma ghrelin levels were measured by radioimmunoassay.Serum GH was detected by chemiluminescence method,and serum insulin-like growth factor-1 (IGF-1) was measured by using enzyme linked immunosorbent assay.Fasting glucose,insulin,testosterone,estra-diol,luteinizing hormone,follicle-stimulating hormone were measured.Statistical analysis were conducted by using SPSS 11.5 software.Results The fasting ghrelin levels of CGHD group were significantly lower than that of ISS group and control group(Pa0.05).The ghrelin levels were positive correlated with the stimulated GH peak(r=0.176 P0.05).Conclusion Ghrelin has an important role on GH secretion and abnormal secretion of ghrelin might be a reason of growth hormone deficiency which due to hypothalamic abnormality.

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