Objective To explore the diagnosis and treatment of hypopara thyroidism-deafness-renal dysplasia(HDR) syndrome in children.Methods According to the symptoms,signs,laboratory examination and the previous published papers of other authors,the disease of the child was diagnosed and treated,and some related literatures were reviewed.Results The 12-years-old boy presented with tetany and deafness and Chvostek's and Trousseau's signs were positive.The initial laboratory studies showed that the serum concentration of calcium was lower,parathormone was in the low limit of normal range and alkalin phosphatase was normal.An audiography revealed the pattern of sensorineural deafness in all frequencies.Abdominal CT revealed that his right kidney was not observed and creatinine clearance rate was low.After treated with calcium carbonate and vitamin D,the symptoms and the signs were improved.Conclusion HDR syndrome is a rare disorder and less recognized in children,and therefore more attention should be paid to avoid missing diagnosis.

Childhood and adolescent obesity has become a global epidemic. The interventions mainly include lifestyle intervention, medication treatment and bariatric surgery. Among them, lifestyle intervention, especially intensive lifestyle intervention with participation of family members, is the first-line treatment for obesity in children and adolescents. Both medication and bariatric surgery are adjuvant treatments for severely obese children and adolescents. Currently, metformin is the most widely used drug for the treatment of obesity in children and adolescents in both China and other countries; orlistat and liraglutide are also the drugs that are safe and often used in other countries; other drugs are not recommended. As a tertiary prevention and treatment strategy for obesity, bariatric surgery should be carried out on the basis of good compliance from both the children and their family members, with the cooperation of multiple disciplines. Sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB) are the most common types of procedure performed. Meanwhile, as a new treatment method, intra-gastric balloon procedure needs to be paid more attention to its efficacy and safety.
Adolescent ; Humans ; Child ; Pediatric Obesity/prevention & control* ; Obesity, Morbid/surgery* ; Gastric Bypass/methods* ; Metformin ; Gastrectomy/methods* ; Treatment Outcome ; Retrospective Studies

Peripheral precocious puberty(PPP),also known as puberty independent from hypothalamic-pituitary axis activation,is stimulated by hormones from other sources, with only partial sexual characteristics development but without mature sexual function. The secondary sexual characteristics development occurs before 7.5 years of age in girls and before 9 years of age in boys. Clinical manifestations are diverse, and PPP has varied etiology including congenital adrenal hyperplasia, McCune-Albright syndrome, ovarian cyst, adrenal tumor, ovarian tumor, testicular tumor, human chorionic gonadotropin producing tumor, familial male precocious puberty, aromatase excess syndrome, and environmental estrogen. Early identification of etiology, accurate differential diagnosis and prenatal gene screening play a significant role in the prevention, diagnosis and treatment of the disease.
Female ; Humans ; Male ; Child ; Puberty, Precocious/therapy* ; Fibrous Dysplasia, Polyostotic/complications* ; Aromatase

OBJECTIVETo study HaCaT-keratinocyte cell lines, a chosen model of human epidermis in an attempt to analyze the mRNA expression of AhR and TGF-alpha induced by TCDD METHODS: Semi-quantitative reverse transcription PCR-technique was used for assaying the relative levels of AhR and TGF-alpha mRNA of HaCaT-cells during the proliferation period when the cells were cultured for 24 hours.

RESULTSRelative level of the AhR-transcripts (corrected with beta-actin) decreased with the elevated concentration of TCDD and the relevant coefficient between the proliferation rate and concentration was -0.548, and the differences among all groups were significant (F =4.124, P =0.021). The vehicle control was respectively compared with 7 x 10(-10) mol/L (0.0620 +/- 0.0085) and 7 x 10(-9) mol/L (0.0518 +/- 0.0194) group, significantly different from the control group (0.1138 +/- 0.0227) (t = -3.48, P <0.05; t = -4.17, P <0.01), the expression amount being 55% and 45% of the control. Relative levels of TGF-alpha mRNA tended to increase with the elevated concentration with the significant coefficient of 0.695 (P < 0.01), and the differences among all groups were significant (F = 15.789, P =0.000). In two higher concentration group 7 x 10(-10) mol/L (0.1474 +/- 0.0390) and 7 x 10 (-9) mol/L (0.2133 +/- 0.0364), their relative expression amount of TGF-alpha mRNA was 2.6-fold, 3.8-fold of the control group (0.0561 +/- 0.0100) respectively. Further analysis for the relevant relationship between the amounts of the AhR mRNA and TGF- alpha mRNA showed a highly negative correlation, the coefficient being - 0.561 (P <0.05).

CONCLUSIONSTCDD down-regulate the expression of AhR and up-regulate the expression of TGF-alpha. A strong negative correlation between AhR and TGF-alpha expression is found.

Cell Line ; Epidermis ; cytology ; Gene Expression ; Humans ; Polychlorinated Dibenzodioxins ; toxicity ; RNA, Messenger ; genetics ; Receptors, Aryl Hydrocarbon ; biosynthesis ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Toxicity Tests ; Transforming Growth Factor alpha ; biosynthesis ; genetics

OBJECTIVETo study the specific binding of the artificial clonal aryl hydrocarbon receptor translocator (ARNT) with the natural aryl hydrocarbon receptor (AhR) and the recolonization by polyclonal antibody. The dose-response relationship with tetrachlo-rodibenzo-dioxin (TCDD) was also studied to develop TCDD detection method and the binding degree related to dose response.

METHODS(1) The target genes including AhR-PAS, AhR-C and ARNT-PAS were amplified by RT-PCR by using the total RNA purified from the liver cells of C57BL/6J mice as templates to construct pGEX-5X1 recombinants. The recombinant plasmids were expressed in E. coli. (2) The rabbits were immuned by the clonal fusion proteins: AhR-PAS, AhR-C to prepare the polyclonal antibody. (3) The natural AhR from the hepatic cytosol of C57BL/6J mice was extracted. The artificial cloning expressed fusion protein:GST-ARNT-PAS and the natural AhR were incubated in different dose of TCDD. The quantity of the heterodimer through affinity adsorption and Western blots were measured.

RESULTS(1) The target proteins including AhR-PAS, AhR-C and ARNT-PAS were successfully cloned and expressed in E. coli. (2) The detection limit of polyclonal antibody AhR-PAS and AhR-C were 5 ng and 1 ng, respectively. (3) The total protein concentration prepared from the liver cells was 60.5 mg/ml. The artificial clonal protein ARNT-PAS could specifically bind to the natural AhR complex with the existence of TCDD. The detection limit of TCDD was 0.25 pmol which was 80 pg approximately.

CONCLUSIONA TCDD detection method based on the aryl hydrocarbon receptor system was established and the detection limit might reach pg grade.

Animals ; Cells, Cultured ; Limit of Detection ; Liver Extracts ; chemistry ; Mice ; Mice, Inbred C57BL ; Polychlorinated Dibenzodioxins ; analysis ; Rabbits ; Receptors, Aryl Hydrocarbon ; genetics ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo investigate the role of mitogen-activated protein kinase (MAPK) signal transduction pathway in chloracne.

METHODSImmunohistochemical technique was used to detect the expression of phosphorylated epidermal growth factor receptor (p-EGFR) and p-MAPK proteins in the epithelium of chloracne group and control group.

RESULTSp-EGFR and p-MAPK was found in all chloracne tissues, whereas no expression of p-EGFR and p-MAPK protein was found in control group. In the skin of chloracne patients, p-EGFR was mainly distributed in the membrane and the cytoplasm, especially in the vicinity of membrane; major positive signal of p-MAPK was in core and serosity.

CONCLUSIONEGFR and MAPK phosphorylation is found in chloracne tissues. MAPK signal transduction pathway is one important molecular mechanism of chloracne.

Adult ; Chloracne ; metabolism ; Humans ; MAP Kinase Signaling System ; physiology ; Male ; Middle Aged ; Mitogen-Activated Protein Kinases ; metabolism ; Occupational Diseases ; metabolism ; Phosphorylation ; physiology ; Receptor, Epidermal Growth Factor ; metabolism

Objective To improve the detection accuracy of cerebral venous thrombosis (CVT) in the first imaging examination and to guide the treatment and improve the outcome. Methods Imagings of 17 CVT cases were retrospectively analyzed and the missed diagnosis and misdiagnosis reasons were summarized. Results All the 17 cases were taken CT examination. 7 cases were missed diagnosed and misdiagnosed. 2 of 7 cases were diagnosed as subarachnoid hemorrhage. 1 of 7 cases was diagnosed as the left occipital subacute subdural hematoma. 1 of 7 cases was diagnosed as the right frontal and parietal and occipital lobes cerebral hemorrhage. 1 of 7 cases was diagnosed as the left parietal and occipital lobes cerebral hemorrhage and broken into ventricles. 2 of 7 cases were diagnosed as negative. Conclusion To summerize the reasons of missed diagnosis and misdiag aosis of CVT can improve the detection accuracy in the first imaging examination.

OBJECTIVETo determine the prevalence and clinical phenotype of metabolic syndrome among overweight and obese schoolchildren in Beijing, and to compare the rates of diagnosis made according to the criteria of the National Cholesterol Education Program (NCEP) of the United States and International Diabetes Federation (IDF).

METHODSBased on Beijing Child and Adolescent Metabolic Syndrome (BCAMS) study with body mass index (BMI), waist circumference (WC) and blood pressure measured, the overweight and obese children were screened among nearly 20 000 children 6-18 years of age in Beijing by Chinese BMI cutoffs for schoolchildren (7-18 years) and the US 2000 CDC Growth Charts--the 85th and 95th percentile (6 years) and were enrolled as the study population. Simultaneously a group of children with normal BMI were selected as the control group and based on the international method of age grouping, each of the above groups was divided further into 4 sub-groups in terms of age: 6-9, 10-12, 13-15 and 16-18 years old, respectively. Fasting plasma glucose (FPG) and insulin (FINS), serum high-density lipoprotein cholesterol (HDL-C) and triglyceride (TG) were examined. HOMA-IR index was calculated for estimating individual insulin resistance. A child who met any three or more of the following five criteria, according to NCEP definition, was diagnosed as MS. A diagnosis of MS using IDF definition required abdominal obesity plus any two or more of the other four criteria: (1) abnormal obesity: WC > or = P(90); (2) elevated BPs: SBP/DBP > or = P(90); (3) low HDL-C: HDL-C < 1.03 mmol/L (40 mg/dl); (4) high TG: TG > or = 1.24 mmol/L (110 mg/dl); (5) impaired fasting glucose (IFG): FPG > or = 5.6 mmol/L (100 mg/dl).

RESULTSThe prevalence rates of MS by NCEP definition were: 0.9%, 7.6% and 29.8% in the normal weight (control group), overweight and obese children, respectively, which were higher than the rates diagnosed by IDF definition with 0.1%, 5.2% and 28.6% in the three groups. The prevalence rates of individual MS component among obese children were: 81.6% for abnormal obesity, 47.7% for elevated BPs, 35.6% for high TG, 16.9% for low HDL-C, and 13.4% for IFG. Elevated BPs (29.8%), abnormal obesity (27.4%) and high TG (26.0%) were the leading three abnormalities among overweight children. With the increase of BMI, the clustering of MS components and insulin resistance (HOMA-IR) were remarkably increased. HOMA-IR significantly increased as the number of MS component increased.

CONCLUSIONSMS has been in an epidemic status among the obese schoolchildren in Beijing. Abnormal obesity, elevated BPs and high TG were the three most common metabolic abnormalities for overweight and obese children. The prevalence rates of MS by NCEP definition in the present study was higher than those diagnosed by using IDF definition.

Adolescent ; Blood Glucose ; analysis ; Body Mass Index ; Body Weight ; Child ; China ; epidemiology ; Cholesterol ; blood ; Cholesterol, HDL ; blood ; Cholesterol, LDL ; blood ; Diabetes Mellitus, Type 2 ; metabolism ; Growth Charts ; Humans ; Insulin ; analysis ; Insulin Resistance ; genetics ; physiology ; Male ; Metabolic Syndrome ; physiopathology ; Obesity ; epidemiology ; metabolism ; physiopathology ; Obesity, Abdominal ; pathology ; Overweight ; epidemiology ; etiology ; metabolism ; Prevalence ; Triglycerides ; analysis ; Waist Circumference

OBJECTIVE: To observe the efficacy and safety of acupuncture combined with auricular point sticking for girls aged 3-8 years with incomplete precocious puberty (IPP). METHODS: Sixty girls with IPP were randomly divided into an observation group (30 cases, 2 cases dropped off) and a control group (30 cases, 2 cases were eliminated). The girls in the control group were treated with healthy diet and proper exercise for 12 weeks. On the basis of the treatment in the control group, the girls in the observation group were treated with acupuncture combined with auricular point sticking. The acupuncture was applied at Sanyinjiao (SP 6), Guanyuan (CV 4), Guilai (ST 29), etc., the needles were retained for 20 min, acupuncture was given twice a week (once every 3 days). The auricular point sticking was applied at Luanchao (TF₂), Neishengzhiqi (TF₂), Neifenmi (CO₁₈), Yuanzhong (AT_2,3,4i), etc., twice a week. The treatment was given for 12 weeks. Before treatment, after treatment and in follow-up after 12 weeks of treatment completion, the Tanner stage of breast, serum contents of sex hormone (luteinizing hormone [LH], follicle-stimulating hormone [FSH], estradiol [E₂]) were observed. The ovarian volume, the number of follicles with diameter>4 mm, and the uterine volume were measured by abdominal color Doppler ultrasound. In addition, the safety of the observation group was evaluated. RESULTS: Compared with before treatment, the Tanner stage of breast in the observation group was improved after treatment and in follow-up (P<0.05); after treatment and in follow-up, the Tanner stage of breast in the observation group was better than that in the control group (P<0.05). Compared with before treatment, the serum levels of LH and E₂ in the observation group were increased (P<0.05), and the volume of bilateral ovaries was larger (P<0.05) in follow-up. Compared with before treatment, the serum contents of LH, FSH and E₂ in the control group were increased (P<0.05), the volume of bilateral ovaries was larger (P<0.05), and the number of follicles was increased (P<0.05) after treatment and in follow-up. The serum levels of LH, FSH and E₂ in the observation group were lower than those in the control group (P<0.05), the volume of bilateral ovaries was smaller than that in the control group (P<0.05), and the number of follicles was lower than that in the control group (P<0.05). Compared with before treatment, the uterine volume in the two groups was larger in follow-up (P<0.05). There was no statistically significant difference between the two groups after treatment and in follow-up (P>0.05). During the treatment, 3 cases in the observation group had slight abdominal pain and subcutaneous blood stasis, without serious adverse reactions. CONCLUSION Acupuncture combined with auricular point sticking could improve the Tanner stage of breast, reduce the level of sex hormone, slow down the development and maturation of ovary and follicle, and control the degree and speed of sexual development in girls aged 3-8 years with IPP.
Female ; Humans ; Puberty, Precocious/therapy* ; Acupuncture Therapy ; Estradiol ; Luteinizing Hormone ; Ovary

To investigate the protective effect and the potential mechanism of leonurine(Leo) against erastin-induced ferroptosis in human renal tubular epithelial cells(HK-2 cells), an in vitro erastin-induced ferroptosis model was constructed to detect the cell viability as well as the expressions of ferroptosis-related indexes and signaling pathway-related proteins. HK-2 cells were cultured in vitro, and the effects of Leo on the viability of HK-2 cells at 10, 20, 40, 60, 80 and 100 μmol·L~(-1) were examined by CCK-8 assay to determine the safe dose range of Leo administration. A ferroptosis cell model was induced by erastin, a common ferroptosis inducer, and the appropriate concentrations were screened. CCK-8 assay was used to detect the effects of Leo(20, 40, 80 μmol·L~(-1)) and positive drug ferrostatin-1(Fer-1, 1, 2 μmol·L~(-1)) on the viability of ferroptosis model cells, and the changes of cell morphology were observed by phase contrast microscopy. Then, the optimal concentration of Leo was obtained by Western blot for nuclear factor erythroid 2-related factor 2(Nrf2) activation, and transmission electron microscope was further used to detect the characteristic microscopic morphological changes during ferroptosis. Flow cytometry was performed to detect reactive oxygen species(ROS), and the level of glutathione(GSH) was measured using a GSH assay kit. The expressions of glutathione peroxidase 4(GPX4), p62, and heme oxygenase 1(HO-1) in each group were quantified by Western blot. RESULTS:: showed that Leo had no side effects on the viability of normal HK-2 cells in the concentration range of 10-100 μmol·L~(-1). The viability of HK-2 cells decreased as the concentration of erastin increased, and 5 μmol·L~(-1) erastin significantly induced ferroptosis in the cells. Compared with the model group, Leo dose-dependently increased cell via-bility and improved cell morphology, and 80 μmol·L~(-1) Leo promoted the translocation of Nrf2 from the cytoplasm to the nucleus. Further studies revealed that Leo remarkably alleviated the characteristic microstructural damage of ferroptosis cells caused by erastin, inhibited the release of intracellular ROS, elevated GSH and GPX4, promoted the nuclear translocation of Nrf2, and significantly upregulated the expression of p62 and HO-1 proteins. In conclusion, Leo exerted a protective effect on erastin-induced ferroptosis in HK-2 cells, which might be associated with its anti-oxidative stress by activating p62/Nrf2/HO-1 signaling pathway.
Humans ; Ferroptosis ; Reactive Oxygen Species/metabolism* ; NF-E2-Related Factor 2/metabolism* ; Sincalide/pharmacology* ; Signal Transduction ; Epithelial Cells/metabolism* ; Glutathione