Search results for " PAI."
showing 10 items of 3604 documents
Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.
2014
Ceruloplasmin is a member of the multicopper oxidase family that plays a major role in the transport of iron in the body. Aceruloplasminaemia (ACP) is a rare disease and is clinically identified by iron overload in liver, pancreas, brain, and other organs, and by microcytic anaemia. So far, the iron chelator deferasirox was given for therapy only up to 6 months due to side effects. Here, we describe a novel mutation leading to ACP and report for the first time a long-term therapy, that is, 2 years with deferasirox. ACP was diagnosed in 3 siblings using clinical and biochemical characteristics, HFE and ceruloplasmin mutational analysis, liver biopsy, brain-, liver-, and heart-MRI. For iron d…
Curasan PRP kit vs. PCCS PRP system
2002
An important reason to improve methods of isolating platelet-rich plasma (PRP) is the potential use of autologous thrombocyte growth factors. In addition to discontinuous cell separation, two methods for extracting PRP that can be performed directly by the surgeon are now available. This study compared the suitability of these two methods for the preparation of PRP. Whole blood was drawn from 47 healthy donors (18 men, 29 women) aged 20-59 years (mean 29.9, SD 7.7). For each donor, PRP was separated by the PCCS method (PCCS Kit, 3i Implant Innovations, Palm Beach Gardens, FL, USA) and by the Curasan method (analogous to the PRP kit, Curasan, Kleinostheim, Germany). Thrombocyte counts differ…
Hematologic effects of recombinant human granulocyte colony-stimulating factor in patients with malignancy.
1989
Abstract The effect of recombinant human granulocyte colony-stimulating factor (G-CSF) on hematologic parameters was evaluated in a phase I clinical study in 18 patients with advanced malignancy. G-CSF was administered once daily as a 30-minute infusion for 14 days; three patients each were treated at increasing dose levels of 1, 3, 10, 30, and 60 micrograms kg-1 day-1. A transient decrease in neutrophil and monocyte counts was observed immediately after the G-CSF infusion, followed by a dose-dependent increase of up to 15-fold. G-CSF-induced neutrophils exhibited an increased O2- radical production, and serum levels of enzymes related to granulocyte turnover, including lysozyme and elastas…
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
2011
Dilated cardiomyopathy (DCM) is a major cause of heart failure with a high familial recurrence risk. So far, the genetics of DCM remains largely unresolved. We conducted the first genome-wide association study (GWAS) to identify loci contributing to sporadic DCM.One thousand one hundred and seventy-nine DCM patients and 1108 controls contributed to the discovery phase. Pools of DNA stratified on disease status, population, age, and gender were constituted and used for testing association of DCM with 517 382 single nucleotide polymorphisms (SNPs). Three DCM-associated SNPs were confirmed by individual genotyping (P5.0 10(-7)), and two of them, rs10927875 and rs2234962, were replicated in ind…
Local anaesthetic sympathetic blockade for complex regional pain syndrome
2016
This is the peer reviewed version of the following article: The Cochrane database of systematic reviews, which has been published in final form at https://doi.org/10.1002/14651858.CD004598.pub4. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. Background: This review is an update of a previously published review in the Cochrane Database of Systematic Reviews, 2005, Issue 4 (and last updated in the Cochrane Database of Systematic Reviews, 2013 issue 8), on local anaesthetic blockade (LASB) of the sympathetic chain to treat people with complex regional pain syndrome (CRPS). Objectives: To assess the efficacy of LASB for the…
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…
2008
A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…
Postural equilibrium: functional system and its stabilization by means of osteoreflexotherapy.
1998
Our investigations have confirmed that the osteoreceptive sensory system participates in the polysensoric regulation of animal and human posture. Experiments with animals have demonstrated that the irritation of osteoreceptors by electric pulses leads to osteoreceptive response potentials of the same parts of the brain (Deiter's nuclei, cerebellum, caudate nucleus, cortical motor centre etc.) which participate in the regulation of animal and human posture and other motion acts. Close functional relations have been established between the skin, bone, vestibular and muscle sensory systems in the brain structures where the osteoreceptive excitation converges. The studies of osteoreceptive sens…
Adenomyotic Cyst in a 25-Year-Old Woman: Case Report
2013
Adenomyotic cysts are uncommon findings, usually in the context of diffuse adenomyosis and <5 mm in diameter. Herein we report a 4.5-cm adenomyotic cyst in a 25-year-old nulliparous woman with severe dysmenorrhea and pelvic pain. Transvaginal ultrasonography and magnetic resonance imaging revealed a well-circumscribed hypoechogenic mass in the posterior uterine wall, well separated from the uterine cavity. Pathologic analysis demonstrated that the cyst was lined with endometrial epithelium and stroma and was surrounded by smooth muscle hyperplasia. In the literature, we found 30 reports of cysts with similar characteristics. Because this cyst has not been clearly defined, it has been called…
Reliability and validity of the Finnish version of the Lower Extremity Functional Scale (LEFS)
2017
The present study aimed to assess the psychometric properties of the Finnish version of the Lower Extremity Functional Scale (LEFS) among foot and ankle patients.The LEFS was translated and cross-culturally adapted to Finnish. We assessed the test-retest reliability, internal consistency, floor-ceiling effect, construct validity and criterion validity in patients who underwent surgery due to musculoskeletal pathology of the foot and ankle (N = 166).The test-retest reliability was high (ICC = 0.93, 95% CI: 0.91-0.95). The standard error of measurement was 4.1 points. The Finnish LEFS showed high internal consistency (Cronbach's α = 0.96). A slight ceiling effect occurred as 17% achieved the …
Molecular analysis of the 9p21 locus and p53 genes in Ewing family tumors.
2001
The EWS-ETS rearrangements, and their respective fusion gene products, are specifically associated with histopathologically Ewing family tumors (EFT). These translocations are implicated in generating malignant transformation of EFT, but the presence of additional genetic alterations must be considered in the pathogenesis of such tumors. We analyzed 26 samples (biopsies and/or nude mice xenotransplants) collected from 19 patients with an EFT to determine whether molecular and cytogenetic alterations of the G(1)/S checkpoint genes are implicated in the pathogenesis of EFT. We found inactivating p53 mutations in three (16%) cases, which correlated with a loss of p21(WAF1/Cip1) expression and …