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To evaluate the response of circulating intact parathyroid hormone (iPTH) on myocardial hypertrophy in hemodialysis (HD) patients with secondary hyperparathyroidism (SHPT), echocardiographic and neurohormonal assessments were performed over a 15-week period in 15 HD patients with SHPT before and after calcitriol treatment and 10 HD control patients with(More)
UNLABELLED Many women affected with galactosaemia suffer from ovarian dysfunction and have elevated serum levels of follicle stimulating hormone (FSH). We have analysed FSH-glycoprotein isoforms from four galactosaemic and five healthy women. Besides the commonly found FSH species with a median isoelectric point (pI) of 4-5, the sera of the female(More)
BACKGROUND AND PURPOSE Although coiling has been favorably comparable with clipping for treatment of most intracranial aneurysms, there is a controversy on which modality is safer for anterior choroidal artery (AchoA) aneurysm. We retrospectively evaluated the clinical outcomes and treatment-related complications after surgical clipping and endovascular(More)
OBJECTIVE We aimed to evaluate the long-term clinical outcomes and prognostic factors of symptomatic intracranial unruptured vertebrobasilar artery dissection (siu-VBD). METHODS A total of 191 patients (M:F = 127:64; median age, 46 years) with siu-VBD were treated between January 2001 and December 2008. Presentations, treatments, outcomes, and prognostic(More)
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and divided into types 0 to X. GSD type I, glucose 6-phosphatase system, has types Ia, Ib, Ic, and Id, glucose 6-phosphatase, glucose 6-phosphate translocase, pyrophosphate translocase, and glucose translocase deficiencies,(More)
We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair GBE activity. This is the first(More)
Astrocytes are plastic cells that play key roles in brain physiology and pathology, including via their glutamate transporters, excitatory amino acid transporter (EAAT)1 and EAAT2, maintaining low extracellular glutamate concentrations and protecting against excitotoxic neuronal injury. Alterations in cell surface expression of EAATs and astrocytic(More)
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene on chromosome 12q24, which lead to a depressed enzymatic activity of mevalonate kinase (MK). TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most(More)
Kinetic and immunological studies of 1,4-alpha-glucosidase show that the distribution of acid, renal and neutral alpha-glucosidase at pH 4.0 and 6.5 is as follows: in liver and cultured fibroblasts and amniotic fluid cells the activity at pH 4.0 is mainly due to the acid enzyme. Even at pH 6.5, the activity is largely due to the residual activity of the(More)