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.

Objective To observe the effect of neuromuscular electrical stimulation and swallowing trainging on dysphagia after stroke.Methods 60 stroke patients following dysphagia were randomly divided into neuromuscular electrical stimulation group (n=20), swallowingtraining group (n=20), and combined therapy group (n=20), which received neuromuscular electrical stimulation, swallowing training, orcombined treatment of the above respectively, on the basis of routine treatment. Swallowing function was assessed by Kubota test and videofluoroscopyswallowing study (VFSS). Results The scores improved significantly in three groups after the treatment (P<0.05), and combinedtherapy group improved best (P<0.01). Conclusion Neuromuscular electrical stimulation and swallowing training can improve swallowingfunction after stroke, and combined therapy was more effective.

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.

OBJECTIVE: To investigate the expressions of matrix metalloproteinase-9 (MMP-9) and interleukin-8 (IL-8) in nasopharyngeal carcinoma and their association with Epstein-Barr virus latent membrane protein-1 (LMP-1). METHOD: The expressions of MMP-9, IL-8 and LMP-1 were immunohistochemical studied in 53 nasopharyngeal carcinoma sections. We statistically analyzed the correlation of these data and also the relationship between the clinical features and the experimental data of these patients. RESULT: The positive expression rate of MMP-9, IL-8 and LMP-1 were all 66.04% (35/53) and their average expression score were (33.19 +/- 29.73)%, (33.46 +/- 30.23)%, (35.49 +/- 29.63)% respectively. The expressions of MMP-9 and IL-8 both showed positive correlation with the expression of LMP-1 (r = 0.792, 0.786 respectively). The expressions of MMP-9, IL-8 and LMP-1 showed significant relationship with lymph nodes metastasis (P < 0.05), but no-significant association with age, gender, pathological classification, and clinical stage. CONCLUSION The expressions of MMP-9, IL-8 and LMP-1 were significantly associated with neck lymph nodes metastasis in nasopharyngeal carcinoma. The correlation between LMP-1 and MMP-9, IL-8 showed LMP-1 might enhance neck lymph nodes metastasis by up-regulating the expressions of MMP-9 and IL-8.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Interleukin-8 ; metabolism ; Lymphatic Metastasis ; Male ; Matrix Metalloproteinase 9 ; metabolism ; Middle Aged ; Nasopharyngeal Neoplasms ; metabolism ; pathology ; Neck ; Prognosis ; Viral Matrix Proteins ; metabolism ; Young Adult

Baeyer-Villiger monooxygenases, a well-studied class of flavin-dependent enzymes, catalyze the conversion of ketones to lactones or esters and the oxygenation of heteroatoms, which possesses great practical prospect in synthetic chemistry and biocatalysis. In this review, we focus on Baeyer-Villiger oxidations involved in biosynthesis of microbial secondary metabolites and discuss the characteristics of these Baeyer-Villiger oxidations and Baeyer-Villiger monooxygenases, to provide reference for the protein engineering of Baeyer-Villiger monooxygenases.
Biocatalysis ; Catalysis ; Mixed Function Oxygenases ; Oxidation-Reduction ; Protein Engineering