Joined in 2023 
82 
63 About this deal
On termination of the contract for any reason the customer shall immediately pay to VWR all of its outstanding unpaid invoices and interest. Confidentiality
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Should You Buy the Stohlquist Fisherman?
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. Geller et al. (2008) reported a novel familial form of aldosteronism in a father and 2 daughters. All were diagnosed with severe secondary hypertension (HTN) refractory to medical treatment by age 7 years. Geller et al. (2008) performed a variety of clinical, biochemical, and genetic studies to attempt to clarify the underlying molecular defect. Biochemical studies revealed hyporeninemia, hyperaldosteronism, and very high levels of 18-oxocortisol and 18-hydroxycortisol, steroids that reflect oxidation by both steroid 17-alpha hydroxylase and aldosterone synthase. These enzymes are normally compartmentalized in the adrenal fasciculata and glomerulosa, respectively. Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguished this clinical syndrome from glucocorticoid-remediable aldosteronism (GRA; 103900), another autosomal dominant form of HTN, and suggested a global defect in the regulation of adrenal steroid production. Because of unrelenting HTN, all 3 subjects underwent bilateral adrenalectomy, which in each case corrected the HTN. Adrenal glands showed dramatic enlargement, with paired adrenal weights as high as 82 grams. Histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa.
Authorisation to return products damaged during delivery must be requested within 3 days of delivery. VWR has the right to repair and return damaged products. The actual shade displayed/printed will depend on your system settings and should therefore be used for guidance only. Mulatero et al. (2012) described an Italian mother and daughter with primary hyperaldosteronism, in whom the presence of the chimeric gene responsible for GRA had been excluded. The mother, who had a history of polyuria in the first decade of life, was initially reported to be hypertensive at age 18 years. Primary aldosteronism was diagnosed at 27 years of age, when she presented with hypertension, hypokalemia, decreased plasma renin activity, and elevated aldosterone levels that did not normalize after dexamethasone administration. On electrocardiogram, QTc was slightly prolonged at 456 ms, even after normalization of potassium levels. The daughter had polyuria and polydipsia at 2 years of age, and evaluation revealed hypertension, hypokalemia, and severe hyperaldosteronism with hypotonic urine and hypercalciuria. CT scans of the adrenal glands were normal in both patients, and symptoms in both were controlled with medication. In a father and 2 daughters with hyperaldosteronism type III (HALD3; 613677), Choi et al. (2011) identified heterozygosity for an A-to-G transition in the KCNJ5 gene resulting in a threonine-to-alanine substitution at codon 158 (T158A). This mutation was present in affected family members and was not identified in 900 control alleles. All 3 patients had massive adrenal hyperplasia and required bilateral adrenalectomy in childhood. Threonine-158 is conserved among KCNJ5 orthologs and other inward rectifiers and lies in the loop between the selectivity filter and the second transmembrane domain. The T158A mutation eliminates hydrogen bonds that constrain the structure of the KCNJ5 potassium channel. Although the arg468-to-trp mutation ( 300823.0012) was associated with a mild form of MPS II, Whitley et al. (1993) found very severe MPS II ( 309900) manifestations in a boy who was found to have a mutation in the same codon: a G-to-A transition at nucleotide 1403 of the IDS gene resulted in substitution of glutamine for arginine-468 (R468Q). In a note added in proof, it was reported that fibroblast cultures showed a large acrocentric supernumerary marker chromosome, which presumably was responsible for the quantitatively and qualitatively atypical features of the proband's face. The proband died at the age of 23 months.
Isogai, K., Sukegawa, K., Tomatsu, S., Fukao, T., Song, X.-Q., Yamada, Y., Fukuda, S., Orii, T., Kondo, N. In an Italian mother and daughter with primary aldosteronism, Mulatero et al. (2012) identified heterozygosity for a missense mutation in the KCNJ5 gene (G151E; 600734.0005).
Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S.-P., Rasmussen, H. B., Ellinor, P. T., Gao, L., Lin, X., Li, L., and 9 others. Sukegawa et al. (1995) described 8 new examples of point mutations in the IDS gene in Japanese Hunter syndrome patients exhibiting various degrees of severity.
10 A6M2, 10 D3A1, 10 B5N2
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Great Deal 
New Comment