Search results for "fusion"
showing 10 items of 4513 documents
Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other k…
1998
Analysis of an abnormal C1q molecule of individuals of a Moroccan family by ultracentrifugation in sucrose gradients revealed a low molecular weight C1q (LMW-C1q). We investigated the molecular basis of this defect by sequencing all six exons of the three C1q genes. One point mutation in the codon for Gly at position 15 (GGT) of the B chain was found resulting in an amino acid substitution to Asp (GAT). The exchange not only leads to an interruption of the collagen-like motif Gly-X-Y, but also introduces one negatively charged residue per B chain which results in two additional charges per structural subunit (A-B, C-C, A-B). The mutation which has been identified by DNA-sequencing in the C1…
Luspatercept for the treatment of anaemia in patients with lower-risk myelodysplastic syndromes (PACE-MDS): a multicentre, open-label phase 2 dose-fi…
2017
Myelodysplastic syndromes are characterised by ineffective erythropoiesis. Luspatercept (ACE-536) is a novel fusion protein that blocks transforming growth factor beta (TGF β) superfamily inhibitors of erythropoiesis, giving rise to a promising new investigative therapy. We aimed to assess the safety and efficacy of luspatercept in patients with anaemia due to lower-risk myelodysplastic syndromes.In this phase 2, multicentre, open-label, dose-finding study (PACE-MDS), with long-term extension, eligible patients were aged 18 years or older, had International Prognostic Scoring System-defined low or intermediate 1 risk myelodysplastic syndromes or non-proliferative chronic myelomonocytic leuk…
Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy
2007
Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…
MR imaging technique for the diagnosis of pituitary iron overload in patients with transfusion-dependent beta-thalassemia major
1998
To identify the optimal MR imaging technique for diagnosing pituitary iron overload, we compared spin-echo and gradient-echo MR imaging with measurements of pituitary T2 relaxation times in 30 patients with secondary hemochromatosis due to transfusion-dependent beta-thalassemia major and in 10 healthy volunteers. We found that the optimal MR imaging technique to evaluate pituitary iron overload is the gradient-echo T2*-weighted technique, as it best demonstrated signal reduction in the anterior lobe of the pituitary gland.
Single region of interest versus multislice T2* MRI approach for the quantification of hepatic iron overload.
2011
Purpose To evaluate the effectiveness of the single ROI approach for the detection of hepatic iron burden in thalassemia major (TM) patients in respect to a whole liver measurement. Materials and Methods Five transverse hepatic slices were acquired by a T2* gradient-echo sequence in 101 TM patients and 20 healthy subjects. The T2* value was calculated in a single region of interest (ROI) defined in the medium-hepatic slice. Moreover, the T2* value was extracted on each of the eight ROIs defined in the functionally independent segments. The mean hepatic T2* value was calculated. Results For patients, the mean T2* values over segments VII and VIII were significantly lower. This pattern was su…
Laparoscopic adrenalectomy: preoperative data, surgical technique and clinical outcomes
2019
Background: laparoscopic adrenalectomy has become the standard treatment for adrenal lesions. The better clinical outcoms of laparoscopic technique are valid for treatment of small benign masses (< 5-6 cm), instead there are still open questions in literature regarding the correct management of larger lesions (> 6 cm) or in case of potentially malignant adrenal tumors. The aim of this study is to evaluate the outcomes of laparoscopic adrenalectomy in a referral surgical department for endocrine surgery. Methods: at the University Hospital Policlinico "P. Giaccone" of Palermo between January 2010 and December 2017 we performed a total of 81 laparoscopic adrenalectomy. We created a retr…
Weekly Dose-Dense Cisplatin-Epirubicin-Paclitaxel Administration with Granulocyte Colony-Stimulating Factor Support Does Not Substantially Improve Pr…
2004
Purpose: The present study was aimed at defining the antitumor activity of the cisplatin-epirubicin-paclitaxel (PET) weekly administration with granulocyte colony-stimulating factor (G-CSF) support in chemonaive small-cell lung cancer patients with extensive disease (ED-SCLC). Methods: Chemonaive ED-SCLC patients received cisplatin 30 mg/sqm, epirubicin 50 mg/sqm and paclitaxel 120 mg/sqm, weekly, with G-CSF (5 μg/kg from day 3 to 5) support, for a maximum of 12 weeks. Results: Thirty-nine patients were treated, for a total of 354 cycles delivered. Eight complete (21%), and 22 partial responses (56%) were recorded, giving a 77% (95% Cl = 61-89%) objective response rate (ORR). After 14 (rang…
Unique Characteristics of the Intestinal Immune System as an Inductive Site after Antigen Reencounter
2004
Background Immunization prepares the body for a reencounter with the microbe. Information on the targeting of immune effector cells during secondary immune response--that is, lymphocyte homing--is scarce. In the present study, the homing potentials of lymphocytes are examined after antigen reencounter at mucosal versus nonmucosal sites. Methods Orally or parenterally immunized volunteers were reimmunized orally or parenterally with Salmonella typhi Ty21a, and the expression of the gut homing receptor (HR), alpha(4)beta(7), and of the peripheral lymph node HR, L-selectin, was investigated in circulating antigen-specific antibody-secreting cells (ASCs). Lymphocytes were sorted by HR expressio…
Usefulness of quantitative peritumoural perfusion and proton spectroscopic magnetic resonance imaging evaluation in differentiating brain gliomas fro…
2016
Objectives The purpose of our study was to evaluate whether peritumoural perfusion weighted and proton spectroscopic magnetic resonance imaging can be used in differentiating between primary gliomas and solitary metastases. Methods Ten low-grade gliomas, eight high-grade gliomas and 10 metastases were prospectively evaluated with magnetic resonance imaging, dynamic susceptibility contrast enhanced perfusion imaging and single-voxel proton magnetic resonance spectroscopy before surgical resection or stereotactic biopsy. Maximal relative cerebral blood volume values were calculated drawing three regions of interest of 2 cm2 in the non-enhancing peritumoural areas. Maximal relative cerebral bl…
Pharmacokinetics of triamterene after i.v. administration to man: determination of bioavailability.
1983
With a new formulation, which made intravenous infusion of triamterene (TA) possible, plasma levels and urinary excretion rates of TA and its main metabolite (OH-TA-ester) were measured in a randomized, cross-over trial in 6 healthy volunteers given triamterene 10 mg i.v. and 50 mg p.o. TA and OH-TA-ester were determined by densitometric measurement of native fluorescence after thin layer chromatography. Distribution volumes of the central compartment of TA and OH-TA-ester were 1.49 l/kg and 0.11 l/kg, respectively. Terminal half-lives were 255 min for TA and 188 min for OH-TA-ester after i.v. administration. For TA total plasma clearance was 4.5 l/min and renal plasma clearance 0.22 l/kg. …