[Pharmacological therapies for height improvement in pubertal children with short stature]. / 青春期矮身材儿童身高改善的药物治疗.

Short stature in puberty significantly affects the physical and mental health of adolescents. The continuous acceleration of skeletal maturation, caused by sex hormones during puberty, limits the time available for growth and poses a considerable challenge for the treatment of short stature. To date, there is still no standardized treatment protocol for this disorder. However, puberty is the last period to improve the final adult height. Currently, commonly used pharmacological treatments in clinical settings include recombinant human growth hormone, gonadotropin-releasing hormone analogs, and third-generation aromatase inhibitors. In recent years, personalized treatment aiming to improve the final adult height has become a key focus in clinical practice. This article provides a comprehensive summary of research on pharmacological therapies for height improvement in pubertal children with short stature, offering valuable insights for healthcare professionals.

Comparative Genomic Analysis and Metabolic Potential Profiling of a Novel Culinary-Medicinal Mushroom, Hericium rajendrae (Basidiomycota).

Hericium rajendrae is an emerging species in the genus Hericium with few members. Despite being highly regarded due to its rarity, knowledge about H. rajendrae remains limited. In this study, we sequenced, de novo assembled, and annotated the complete genome of H. rajendrae NPCB A08, isolated from the Qinling Mountains in Shaanxi, China, using the Illumina NovaSeq and Nanopore PromethION technologies. Comparative genomic analysis revealed similarities and differences among the genomes of H. rajendrae, H. erinaceus, and H. coralloides. Phylogenomic analysis revealed the divergence time of the Hericium genus, while transposon analysis revealed evolutionary characteristics of the genus. Gene family variation reflected the expansion and contraction of orthologous genes among Hericium species. Based on genomic bioinformation, we identified the candidate genes associated with the mating system, carbohydrate-active enzymes, and secondary metabolite biosynthesis. Furthermore, metabolite profiling and comparative gene clusters analysis provided strong evidence for the biosynthetic pathway of erinacines in H. rajendrae. This work provides the genome of H. rajendrae for the first time, and enriches the genomic content of the genus Hericium. These findings also facilitate the application of H. rajendrae in complementary drug research and functional food manufacturing, advancing the field of pharmaceutical and functional food production involving H. rajendrae.

[Acupuncture for perimenopausal early-wake insomnia: a randomized controlled trial].

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.

Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports.

BACKGROUND: Caused by premature activation of the hypothalamic-pituitary-gonadal axis, there is increasing incidence of central precocious puberty (CPP), especially in girls. Makorin ring finger protein 3 (MKRN3), a maternal imprinted gene with a highly conserved sequence, is the most common genetic etiology associated with CPP. Approximately 50 different mutations in MKRN3 have been found in CPP. CASE SUMMARY: This case report involves identical twin sisters presenting with premature thelarche at the age of 6 years. The left hand bone age of both patients revealed advanced age (9 years). Pelvic B ultrasound indicated enlargement of the ovaries. Luteinizing hormone (LH) releasing hormone testing confirmed CPP. Whole-exome sequencing detected the c.841C>T mutation in MKRN3, leading to a single base substitution, in the twins. This mutation was inherited from the father and paternal grandmother. After 3 mo of treatment with a gonadotropin-releasing hormone analog, levels of LH, follicle-stimulating hormone, and estradiol in the proband's sister returned to normal levels. CONCLUSION: Here, we report a rare mutation (c.841C>T) in MKRN3 in identical twin sisters with CPP.

[Ginger-separated moxibustion for chronic fatigue syndrome and its effect on intestinal flora].

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 (P<0.01), and the reduction in the observation group was larger than that in the control group (P<0.01). The relative abundance of intestinal flora was similar between the observation group and control group at the phylum and genus level before treatment. After treatment, there was no significant change of intestinal flora in the control group. However, the enterobacteriaceae, corynebacterium, erysipelothrix, actinomycetes were increased in the observation group (P<0.05), and actinomycetes, ruminococcus, lactarius had obvious flora advantages compared with the control group (P<0.05). 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.

[Effect of ginger-separated moxibustion on fatigue, sleep quality and depression in patients with chronic fatigue syndrome: a randomized controlled trial].

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 (P<0.05, P<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 (P<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 (P<0.01, P<0.05). The score of SF-36 was relevant to the scores of PSQI and SDS in the patients of chronic fatigue syndrome (r =0.331, P<0.05; r =-0.706, P<0.01). The improvement value of SF-36 score was closely related to the improvement value of SDS score in the observation group (r =-0.657, P<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.

Novel deletion mutation in Bruton's tyrosine kinase results in X-linked agammaglobulinemia: A case report.

BACKGROUND: X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton's tyrosine kinase (BTK). We found a new mutation point and summarized the correlation analysis and performed a literature review. CASE SUMMARY: The proband was a 5-year-old boy. He was admitted to our hospital due to a recurrent cough and a fever that had persisted for a month. He had a history of multiple respiratory infections and sinusitis. There was no immunodeficiency or recurrent infection history among his family members. Agammaglobulinemia was characterized as follows: Immunoglobulin (Ig) A, 90.0 mg/dL (90-450 mg/dL); IgG, 20.0 mg/dL (800-1800 mg/dL); and IgM, 18.0 mg/dL (60-280 mg/dL). Notably, the assessment of IgG subtypes revealed the following very low levels: Subtype 1, 0.26 g/L (3.62-12.28 g/L); subtype 2, 0.10 g/L (0.57-2.9 g/L); subtype 3, 0.009 g/L (0.129-0.789 g/L); and subtype 4, 0.003 g/L (0.013-1.446 g/L). Cellular immunological test results were as follows: CD3, 74.6% (50%-84.0%); CD4, 47.3% (27.0%-51.0%); and CD8, 24.9% (15.0%-44.0%). A de novo hemizygous deletion in BTK was detected: c.902_c.904delAAG/p.E301del. Transcript levels of the mutant BTK were similar to those of the wild-type gene, though overexpression resulted in markedly reduced levels of mutant BTK (9.49% ± 1.58%), relative to the wild-type BTK (75.8% ± 2.98%, P < 0.01). CONCLUSION: This case of X-linked agammaglobulinemia was attributed to a de novo hemizygous deletion mutation in BTK (c.902_c.904delAAG/p.E301del). The mutation resulted in markedly reduced BTK protein stability in vitro.

[Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases].

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.

Dopamine receptor D2 polymorphism is associated with alleviation of obesity after 8-year follow-up: a retrospective cohort study in obese Chinese children and adolescents.

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.

Reduction of Tat-interacting Protein 30 Expression Could be a Prognostic Marker in Bladder Urothelial Cancer.

BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

Maternal undernutrition leads to elevated hepatic triglycerides in male rat offspring due to increased expression of lipoprotein lipase.

Small for gestational age (SGA) at birth increases the risk of developing metabolic syndrome, which encompasses various symptoms including hypertriglyceridemia. The aim of the present study was to determine whether maternal undernutrition during pregnancy may lead to alterations in hepatic triglyceride content and the gene expression levels of hepatic lipoprotein lipase (LPL) in SGA male offspring. The present study focused on the male offspring in order to prevent confounding factors, such as estrus cycle and hormone profile. Female Sprague Dawley rats were arbitrarily assigned to receive an ad libitum chow diet or 50% food restricted diet from pregnancy day 1 until parturition. Reverse transcription quantitative polymerase chain reaction and western blot analysis were used to measure the gene expression levels of hepatic LPL at day 1 and upon completion of the third week of age. Chromatin immunoprecipitation quantified the binding activity of liver X receptor­α (LXR­α) gene to the LXR response elements (LXRE) on LPL promoter and LPL epigenetic characteristics. At 3 weeks of age, SGA male offspring exhibited significantly elevated levels of hepatic triglycerides, which was concomitant with increased expression levels of LPL. Since LPL is regulated by LXR­α, the expression levels of LXR­α were detected in appropriate for gestational age and SGA male offspring. Maternal undernutrition during pregnancy led to an increase in the hepatic expression levels of LXR­α, and enriched binding to the putative LXR response elements in the LPL promoter regions in 3­week­old male offspring. In addition, enhanced acetylation of histone H3 [H3 lysine (K)9 and H3K14] was detected surrounding the LPL promoter. The results of the present study indicated that maternal undernutrition during pregnancy may lead to an increase in hepatic triglycerides, via alterations in the transcriptional and epigenetic regulation of the LPL gene.

[Effects of intrauterine growth restriction and high-fat diet on serum lipid and transcriptional levels of related hepatic genes in rats].

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Expression of transferrin in hematoma brain tissue at different stages after intra cerebral hemorrhage in rats.

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.

Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndrome.

Brugada syndrome (BrS) is a rare, inherited arrhythmia syndrome. The most well-known gene that is responsible for causing BrS is SCN5A, which encodes the human cardiac Na+ channel (Nav1.5) α subunit. To date, it has been reported that >100 mutations in SCN5A can cause BrS. In the present study, a novel BrS-associated Nav1.5 mutation, A1428S, was identified in a proband who was successfully resuscitated from an episode of sudden collapse during walking. This mutation was further confirmed by polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis, which showed that the PCR fragment containing the mutation A1428S could be cut by the restriction enzyme Nsi1, yielding two shorter DNA fragments of 329 and 159 bp, which were not present in family members homozygous for the wild-type (WT) allele. Furthermore, the electrophysiological properties were analyzed by patch clamp technique. Current density was decreased in the A1428S mutant compared that in the WT. However, neither the steady-state activation or inactivation, nor the recovery from inactivation exhibited changes between the A1428S mutant and the WT. In conclusion, the results of this study are consistent with the hypothesis that a reduction in Nav1.5 channel function is involved in the pathogenesis of BrS. The structural-functional study of the Nav1.5 channel enhances the present understanding the pathophysiological function of the channel.

Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy.

Duchenne type muscular dystrophy (DMD) is an allelic X-linked recessive disorder caused by mutations in the gene encoding dystrophin. Genotype analysis has shown that deletion mutations account for approximately 65% of all cases, and 5-10% are duplications, while the remaining 30% of affected individuals may have smaller mutations, including point mutations, small deletions or small insertions. In this study, we present the case of a 4-year-old boy with typical clinical features of DMD, who developed normally until the age of 2. However, at age 3 he presented his first symptom, a tendency to fall, had difficulty in rising from the floor and in walking on his toes. At age 4 he had a waddling gait and could no longer climb stairs. A physical examination revealed proximal muscle weakness, calf hypertrophy, deep tendon hyporflexia and a positive Gower's sign. To identify the disease-causing gene in the proband, all coding regions (exons 1-79) of the dystrophin gene were PCR-amplified and sequenced. A novel duplication (c.8284dupA) in exon 56 of the dystrophin gene was identified, which was predicted to generate a frameshift mutation and create a premature termination codon (p.Ile2762Asnfs*10). This mutation was further confirmed by single-strand conformation polymorphism (SSCP) analysis, which revealed an extra band found in exon 56 of the dystrophin in the proband; however, this was not present in his family members or in the 100 matched normal controls. The data presented in this study may aid in expanding the spectrum of mutations causing DMD. To our knowledge, we demonstrate for the first time that a small duplication mutation can cause severe DMD.

The CD226 gene in susceptibility of rheumatoid arthritis in the Chinese Han population.

Recent case-control studies have identified some loci that are associated with rheumatoid arthritis (RA). Among these, a single nucleotide polymorphism (SNP), Gly307Ser (rs763361), in the CD226 gene was first discovered to confer the risk of RA in populations with European and Colombian ancestry. Because the effect of genetic factors varies in different races, the association between RA and CD226 is yet to be evaluated in other non-European populations. Here, we report the significant association between CD226 and RA in a Chinese population of 423 randomly enrolled individuals. The statistical results show that the rs763361 SNP in the CD226 gene is significantly associated with RA in the Chinese population group (P (obs) = 0.005, odds ratio = 1.52). After adjusting for sex and age using multivariate logistics regression analysis, the association is still positive (P (adj) = 0.029, odds ratio = 1.45). Meta-analysis confirms the association between rs763361 and RA (overall P < 0.001, overall odds ratio = 1.12). The test of odds ratio heterogeneity also suggests that the rs763361 SNP confers the same risk of RA in both the Chinese and the Colombian populations, and indicates that rs763361 may play a more important role in non-European populations compared with the European population (P = 0.031). These results demonstrate a genetic association between the CD226 gene and RA in a Chinese Han population with a potentially greater genetic effect than in the European population.

[Survey on the levels of lipids in school-aged children of Beijing, Tianjin, Hangzhou, Shanghai, Chongqing and Nanning cities].

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), low-density 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 (P(95)) fluctuated between 1.26 mmol/L and 1.88 mmol/L, while TC (P(95)) was between 4.80 mmol/L and 5.46 mmol/L. LDL-C (P(95)) was between 2.67 mmol/L and 3.27 mmol/L while non-HDL-C (P(95)) was between 3.36 mmol/L and 3.91 mmol/L, suggesting that age did not seem to be an affecting factor for the lipid level (P > 0.05). The level of HDL-C (P(5)) fluctuated between 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 of TG, 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.

[Prevalence of nonalcoholic fatty liver disease and metabolic syndrome in obese children].

OBJECTIVE: 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. METHOD: 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. RESULT: (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. CONCLUSION: 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.

Replication of clinical hepatitis B virus isolate and its application for selecting antiviral agents for chronic hepatitis B patients.

AIM: To establish a cell model harboring replicative clinical hepatitis B virus (HBV) isolates and evaluate its application in individualized selection of anti-HBV agents for chronic hepatitis B (CHB) patients. METHODS: The full-length HBV genomic DNA from 8 CHB patients was amplified by polymerase chain reaction (PCR). All the patients were treated with lamivudine for at least seven months and finally became resistant to lamivudine. The amplified HBV DNA fragments were inserted into pHY106 vectors by Sap I digestion. The recombinant plasmids containing 1.1 copies of HBV genome were transiently transfected into Huh7 cell line, and the levels of HBsAg, HBeAg and intercellular HBV replicative intermediates were determined by ELISA and Southern blot analysis, respectively, with or without lamivudine and adefovir treatment. The antiviral treatment with adefovir was administered to the patients and analyzed in parallel. RESULTS: A total of 25 independent HBV isolates were obtained from the sera of 8 patients, each patient had at least two isolates. One isolate from each individual was selected and subcloned into pHY106 vector, including 5 isolates with YVDD mutation and 3 isolates with YIDD mutation. All recombinant plasmids harboring HBV isolates were transfected into Huh7 cells. The results indicated that HBV genome carried in HBV replicons of clinical HBV isolates could effectively replicate and express in Huh7 cells. Adefovir, but not lamivudine, inhibited HBV replication both in vitro and in vivo, and in vitro inhibition was dose-dependent. CONCLUSION: The novel method described herein enables individualized selection of anti-HBV agents in clinic and is useful in future studies of antiviral therapy for CHB.

[Gene mutation in secundum atrial septal defect: analysis of a Chinese family with 3 patients].

OBJECTIVE: To study the gene mutations of homeobox transcription factor (CSX/NKX(2.5)) associated with a Chinese family with secundum atrial septal defect (ASD). METHODS: Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, including 3 ASD patients and 10 non-patients, with the proband from Hunan province; and single strand conformation polymorphism analysis was used to check 126 normal control people for detecting the mutations of CSX/NKX(2.5) gene. RESULTS: Three heterozygous mutation [G270A (Glu32Lys), G378A (Glu68Lys) and G390A (Glu72Lys)] were identified in the CSX/NKX(2.5) gene of the ASD patients. However, the other members in the family with ASD patients and the controls did not have such gene mutations. CONCLUSION: The above mentioned mutations of CSX/NKX(2.5) gene identified in a Chinese family may be one of the secundum ASD etiologic causes.