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.

Objective:To analyze the patients′ clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes.Methods:Twenty PHP patients were ascertained at Children′s Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed.Results:In these twenty patients, eighteen cases showed resistance to parathyroid hormone (PTH) and thirteen cases had Albright′s hereditary osteodystrophy (AHO) phenotype. Gene abnormalities were found in all the twenty PHP patients, which included seven patients with GNAS gene variations (six frameshifts and one missense) and thirteen patients with GNAS gene methylation defects. Moreover, twelve children with both PTH resistance and AHO phenotype were clinically diagnosed as PHP-Ⅰa, meanwhile, seven carried GNAS variations and five had methylation abnormalities with a correct diagnosis of PHP-Ⅰb.Conclusions:Patients with AHO phenotype and PTH resistance may have a high genetic diagnosis rate. Because PHP-Ⅰb clinical phenotype may be similar to PHP-Ⅰa, early genetic detection is required for the differential diagnosis. In addition, children without PTH resistance should also be followed up regularly, which may help the early diagnosis.