Mucopolysaccharidosis type I(MPS Ⅰ), a rare autosomal recessive metabolic disease with complex clinical manifestations, often involves multiple organs and results in a heavy disease burden, for which low diagnosis rate and delayed diagnosis are common. Enzyme replacement therapy and hematopoietic stem cell transplantation are the main treatments for MPS Ⅰ, and MPS Ⅰ patients can benefit from the two therapies as shown by a large amount of research data. There is a lack of awareness of MPS Ⅰ and little research has been done on that at present in China. This article will review the epidemiological characteristics, gene mutations and clinical phenotypes, clinical manifestations, diagnosis and treatment of MPS Ⅰ for understanding the diseases comprehensively as well as promoting early diagnosis and treatment, and earlier treatment may be beneficial to patients.

BACKGROUND: Recently, it is investigated that shell of plantain seed is a soluble dietary fiber which can be added into foods to regulate content of cholesterol.OBJECTIVE: To investigate the interventional effect of plantain seed on lipid and its lipid peroxidation in rats with hyperlipidemia.DESIGN: Completely randomized grouping design and controlled animal study.SETTING: Laboratory of Pharmacology and Toxicology for New Drug in Hebei Province.MATERIALS: ① A total of 24 healthy SD rats, of grade I, aged 60-70 days, weighting (210±22) g, of either gender, were selected in this study. ② Basic feed was provided by Experimental Animal Center in Hebei Province,and the fractional mass of each component was mentioned as following:flour 0.25, bran 0.1, corn dust 0.22, bean cake 0.22, fish dust 0.02, bone dust 0.02, grass dust 0.05, salt 0.01, yeast dust 0.02, and sunflower seed 0.03. High fat feed was provided by Experimental Animal Center in Hebei Province, and the fractional mass of each component was mentioned as following: basic 0.9, cholesterol 0.015, lard 0.08, and hyocholic salt 0.003.③ Lipid kit was provided by Baoding Changcheng Clinical Reagent Company, and kits of superoxide dismutase (SOD), catalase (CAT),glutathione peroxidase (GSH-Px) and malondialdehyde (MDA) were provided by Nanjing Jiancheng Bioengineering Institute.METHODS: The experiment was completed at the Laboratory of Pharmacology and Toxicology for New Drug in Hebei Province from June to December 2004. ① All 24 rats were randomly divided into 3 groups:normal control group, model group and plantain seed group with 8 in each group. Rats in the normal control group were fed with basic feed. Rats in plantain seed group were fed with high fat feed + 15 g/kg plantain seed and drank routinely. Experimental rats were fed in cages, respectively.Each one was fed with 25 g/d food and drunk freely. The experimental cycle was 12 weeks. ② At the end of experiment, rats were anesthetized to assayed levels of serum triacylglycerol (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), serum SOD and MDA, activities of CAT and SOD in myocardial tissue, content of MDA, and activities of CAT and GSH-Px in hepatic tissue with related kits. ③ Measurement data were compared between each two group with t test.MAIN OUTCOME MEASURES:Comparison of serum lipid level and anti-oxidation among groups at 12 weeks after modeling.RESULTS: All 24 rats were involved in the final analysis. ① At 12 weeks after modeling, activities of SOD in serum and myocardial tissue were lower in model group than those in normal control group and plantain seed group (P ＜ 0.05), but levels of MDA in serum and myocardial tissue were higher in model group than those in normal control group and plantain seed group (P ＜ 0.05). ② At 12weeks after modeling, activities of CAT and GSH-Px in serum and myocardial tissue were lower in model group than those in normal control group and plantain seed group (P ＜ 0.05). ③ At 12 weeks after modeling, levels of TC and TG in serum were higher in model group than those in normal control group and plantain seed group (P ＜ 0.05), but level of HDL-C and ratio between HDL-C and TC in serum were lower in model group than those in normal control group and plantain seed group (P ＜ 0.05).CONCLUSION: Plantain seed at dosage of 15 g/kg can decrease content of lipid and strengthen anti-oxidation of economy in rats with hyperlipidemia.

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Thyroid nodules in children exhibit differences in pathophysiology,clinical manifestation,and long-term outcomes compared with those in adults.Besides,the treatment which may be recommended for adults may not be suitable for children who are at low risk for death but at higher risk for long-term harm from exceedingly aggressive therapy.The evaluation of thyroid nodules includes risk factors,thyroid-related hormone,thyroid ultrasound and fineneedle aspiration biopsy,and so on.Benign lesions should be observed mainly by follow-up,however,for malignant lesions,total thyroidectomy or near is recommended,surveillance and follow-up should be maintained after thyroidectomy.

OBJECTIVEThis study aimed to determine the optimal cutoff point of Waist-to-height (WHtR) for the diagnosis of metabolic syndrome (MS) in children and adolescents in six areas of China.

METHODSNinety thousand two hundred and eighty four children aged 6 to 15 years old from 6 areas, including Beijing, Tianjin, Zhejiang, Shanghai, Chongqing and Nanning in China, were surveyed in a random cluster sample. Receiver operating characteristic (ROC) curve analysis was employed to determine the optimal cutoff values of WHtR for detecting the children and adolescents with two or more risk factors of MS.

RESULTSThe optimal WHtR cutoff values derived from the ROC analysis was 85(th) and 80(th) percentiles in males and females, with 6-15 years of age, respectively. The sensitivity and specificity under these cutoff values were 35.78% and 85.41% in males and 49.21% and 79.87% in females, for 6-9 years of age, while the sensitivity and specificity were 49.60% and 85.90% in males and 47.01% and 80.07% in females for 10-15 years of age. The areas under the ROC curves (AUCs) for WHtR 85(th) percentile were 0.61 and 0.64 in males and females for 6-9 years of age, and 0.68 and 0.63 in males and females for 10-15 years of age. The AUCs for WHtR 85(th) percentile in both genders were significantly larger than that for WHtR 90(th) percentile for 10-15 years of age.

CONCLUSIONOur findings indicated that the 85(th) percentile of WHtR (0.48 in both genders for 6-9 years of age, 0.48 in males and 0.46 in females for 10-15 years of age) might be an appropriate cutoff to predict the children and adolescents with two or more risk factors.

Adolescent ; Body Height ; Child ; Child, Preschool ; China ; Female ; Humans ; Male ; Metabolic Syndrome ; diagnosis ; Reference Values ; Waist Circumference