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Samaniego Edgar A - - 2011
BACKGROUND: Nonaneurysmal perimesencephalic subarachnoid hemorrhage (SAH) has usually a benign prognosis and uneventful course; however, recent reports suggest that these patients may develop severe symptomatic vasospasm. METHODS: Description of the clinical course of one patient with nonaneurysmal perimesencephalic SAH who required intraarterial infusion of calcium antagonists and transluminal balloon angioplasty ...
van Schaik Fiona D M - - 2011
BACKGROUND: Although dysplasia is thought to be the precursor lesion in the development of colitis-associated colorectal cancer (CRC), a significant proportion of patients with ulcerative colitis (UC) and low-grade (LGD) or indefinite (IND) dysplasia remain cancer-free during endoscopic follow-up. There is a need for biomarkers that predict neoplastic progression. We ...
Bigalke Boris - - 2011
BACKGROUND: Platelet glycoprotein VI (pGPVI) expression is increased in acute coronary syndrome (ACS), reflecting platelet activation. There is no reliable method available to measure pGPVI. Our aim was to develop a bead-based sandwich immunoassay to measure soluble GPVI (sGPVI). METHODS: Based on antibodies for sGPVI developed earlier, we established and ...
Alseraye Faisal M - - 2011
Trisomy 11 (+11) as an isolated abnormality is a rare event in patients with acute myeloid leukemia (AML) and is associated with poor prognosis. We describe the clinicopathologic features of 18 AML patients with isolated +11 and their mutation status of NPM1, FLT3, NRAS ,KRAS, and KIT. Fourteen patients had ...
Smalberg Jasper H - - 2011
The germline JAK2 46/1 haplotype has been associated with the development of JAK2(V617F)-positive as well as JAK2(V617F)-negative myeloproliferative neoplasms (MPNs). In this study we examined the role of the 46/1 haplotype in the etiology and clinical presentation of patients with splanchnic vein thrombosis (SVT), in which MPNs are the most ...
Chou Che-Yi - - 2011
Aim: Atrial fibrillation (AF) is characterized by the development of thromboembolic events and is more prevalent among end-stage renal disease patients than in the general population. Vascular access thrombosis (VAT) is a major morbidity in chronic hemodialysis (HD) patients; however, the association between AF and VAT is unknown.Methods: We retrospectively ...
Liu Jun - - 2011
To investigate the appropriate duration of head-up tilt test (HUTT) needed to induce a positive reaction in patients with suspected vasovagal syncope. Consecutive patients referred to the syncope unit of our centre for recurrent unexplained syncope were studied. The HUTT included a 30 min passive basic phase and a 20 ...
Lanzillo R - - 2011
The identification of predictive factors of NAbs development might have a relevant impact on clinical practice. Our objective is to look after predictive factors of NAbs development in MS IFN Beta-1b-treated patients. Database was screened for patients on IFN Beta-1b treatment with an Expanded Disability Status Scale (EDSS) at a ...
Pesavento R - - 2011
Recently, a diagnostic strategy using a clinical decision rule, D-dimer testing and spiral computed tomography (CT) was found to be effective in the evaluation of patients with clinically suspected pulmonary embolism (PE). However, the rate of venous thromboembolic complications in the three-month follow-up of patients with negative CT was still ...
Min Seong-Won - - 2011
PURPOSE: To investigate whether patients who developed asystole during strabismus surgery under general anesthesia also develop asystole during adjustment, and whether adjustment can safely be performed under topical anesthesia in these patients. DESIGN: Retrospective, noncomparative interventional case series. METHODS: Adjustment was performed with topical anesthesia in four patients aged 28, ...
Laosanguanek Naressak - - 2011
To study the application, validity and reliability of a Thai version of SF-36 questionnaires in Thai multiple sclerosis (MS) patients. An evaluation of quality of life using a Thai version of SF-36 was performed in 70 MS or clinical isolated syndrome (CIS) patients. Statistical analysis: Measurement of internal consistency was ...
Wincent J - - 2011
Microarray-based comparative genomic hybridization (array-CGH) enables genomewide investigation of copy-number changes at high resolution and has recently been implemented as a clinical diagnostic tool. In this study we evaluate the usefulness of high-resolution arrays as a diagnostic tool in our laboratory and investigate the diagnostic yield in the first 160 ...
Vergara Mercedes - - 2011
BACKGROUND: No validated instruments have been developed to measure work disability in Crohn's disease (CD). The aim of our study was to develop and validate a CD perceived work disability questionnaire (CPWDQ). METHODS: Development phase: an initial questionnaire containing 52 items was obtained from patients' interviews plus additional sources; it ...
Shalev Aryeh - - 2011
BACKGROUND: The broad utilization of revascularization and antithrombotic therapy in patients with acute coronary syndrome (ACS) is associated with a substantial risk of bleeding primarily related to arterial punctures, which can lead to worse outcome. AIM: To define the characteristics and outcome of patients who develop upper gastrointestinal bleeding (UGIB) ...
Llop Elba - - 2011
Background/aim Portal cholangiopathy (PC) is identified in over 80% of patients with portal vein thrombosis (PVT), but the true impact of this condition is not well known. This study investigated the relationship between cholangiographic abnormalities and clinical symptoms and their evolution over time. Patients/Methods 67 consecutive patients with non-tumoral non-cirrhotic ...
Yenikomshian Haig - - 2011
The purpose of this study was to examine the effectiveness of gastric feeding in prevention of upper gastrointestinal (GI) hemorrhage. A retrospective chart review of 50 consecutive burn intensive care unit patients with admission dates from January 1, 2005, to December 31, 2007, was conducted. Five of 50 patients (10%) ...
Dilek Banu - - 2011
The aim of this study was to investigate the role of psychological factors in the development of complex regional pain syndrome (CRPS) type I following the fracture of the distal radius. Fifty patients (average age 57.70 ± 13.43 years) with a distal radius fracture were enrolled in the present study. All of the ...
Tannus Matheus - - 2011
The HTLV-1 virus is a known agent involved in the development of HAM/TSP. Past studies have typically observed patients with autonomic dysfunction consisting of detrusor overactivity and detrusor-sphincter dyssynergia, with the occasional observation of underactive detrusor or detrusor arreflexia. However, studies have not yet evaluated the progression of neurogenic bladder ...
Nagamoto Yasutsugu - - 2011
Atrial tachycardia (AT) occurring during atrial fibrillation (AF) ablation is sometimes difficult to identify and eliminate. EnSite Array (EA) visualizes beat-to-beat virtual activation of AT. The aim of the present study was to characterize AT occurring during AF ablation during ongoing AF, using EA. Among 90 patients with AF (paroxysmal, ...
Ni W - - 2011
Background: It is hypothesized that inflammatory response after subarachnoid hemorrhage (SAH) may play a relevant role in the development and maintenance of vasospasm. This research investigated the correlation between IL-6 in cerebrospinal fluid (CSF) after SAH and the occurrence of vasospasm. Methods: We analyzed both daily clinical manifestation and laboratory ...
Ciccone Marco Matteo - - 2011
The aim of this study was to assess whether carotid plaque morphology is an independent predictive factor of stroke and, innovatively, of acute coronary syndrome (ACS). We analyzed morphological aspects of carotid atherosclerotic plaque associated with an increased risk of ACS and stroke. We examined 72 carotid endarterectomy (CEA) specimens ...
Stewart Thomas A - - 2011
A 74-year-old immunocompetent man admitted for severe retro-orbital headache was diagnosed with isolated sphenoiditis. At the time of scheduled surgery, the patient was mildly obtunded, and a head CT revealed a temporal lobe abscess. The patient underwent a left temporal craniectomy and a bilateral endoscopic sphenoid sinusotomy, which revealed gross ...
Sugawara Akitomo - - 2011
The aim was to determine the incidence of seed migration not only to the chest, but also to the abdomen and pelvis after transperineal interstitial prostate brachytherapy with loose (125)I seeds. We reviewed the records of 267 patients who underwent prostate brachytherapy with loose (125)I seeds. After seed implantation, orthogonal ...
Yorgun Hikmet - - 2011
Percutaneous closure of an ostium secundum-type atrial septal defect is typically a safe and effective therapeutic option in the presence of significant shunting or paradoxical embolism. Infrequently, however, periprocedural sequelae occur.Herein, we report the cases of 2 patients, each of whom underwent transcatheter closure of an atrial septal defect with ...
Stanzani Maserati Michelangelo - - 2010
Headache is a frequent symptom of polycythemia. A case study of a polycythemia vera patient affected by migraines, with and without aura, who developed headache attacks with aura in association with elevated haematocrit and haemoglobin levels is presented. A vasculoneural pathogenesis is supposed.
Mas Natalia - - 2010
Background Glycine receptor antibodies (GlyR-ab) were reported in a patient with progressive encephalomyelitis with rigidity and myoclonus (PERM). Methods Three additional patients were clinically described. GlyR-ab was detected with a cell-based assay of HEK293 cells transfected with the α1 subunit of the GyR. Results A 33-year-old woman presented with diplopia, ...
Malik Shaneela - - 2011
Detection of atrial fibrillation in patients presenting with ischemic stroke or transient ischemic attack (TIA) is important for the prevention of future events. We sought to develop a scoring system that would identify those patients most likely to have atrial fibrillation. Records from an inpatient stroke and TIA database and ...
Conway Devon S - - 2010
Natural history studies have identified numerous features of disability progression in patients with multiple sclerosis (MS), and have provided valuable insight into the underlying pathology of the disease that could assist the development of new treatment strategies. A new study indicates that disability progression occurs in two stages in patients ...
Robberecht Kirsten - - 2010
To report ptosis as an associated finding in 2 patients with maternally inherited diabetes and deafness (MIDD). Two unrelated female patients with genetically proven MIDD are described. A complete ophthalmological examination included evaluation of levator muscle function, vertical fissure height and upper lid crease position measurements, the ice pack test ...
Grossman Murray - - 2010
Recent findings assessing the utility of neuroimaging and biofluid biomarkers are reviewed that help identify patients with frontotemporal lobar degeneration (FTLD) spectrum abnormality. Neuroimaging studies using T1 structural MRI and diffusion tensor imaging (DTI) distinguish between patients with FTLD and Alzheimer's disease, although the reliability of these group-level findings in ...
Kawasaki Eiji - - 2011
The aim of this study was to evaluate the humoral autoreactivity to zinc transporter 8 (ZnT8) depending on the clinical phenotype of type 1 diabetes (T1D). ZnT8 autoantibodies (ZnT8A) were determined by radioimmunoassay using carboxy-terminal ZnT8 constructs in 57 childhood-onset, 97 adult-onset, and 85 fulminant T1D. The ZnT8A frequency was ...
Hilhorst-Hofstee Yvonne - - 2011
The most common mutations found in FBN1 are missense mutations (56%), mainly substituting or creating a cysteine in a cbEGF domain. Other mutations are frameshift, splice and nonsense mutations. There are only a few reports of patients with marfanoid features and a molecularly proven complete deletion of a FBN1 allele. ...
Ajdary Soheila - - 2011
The clinical spectrum of cutaneous leishmaniasis (CL) is extremely variable. Studies in experimental leishmaniasis have revealed a role for TLR4 in control of infection. In the present study the associations between TLR4 mutations (Asp299Gly and Thr399Ile) with outcome of CL have been investigated. Genotyping for Asp299Gly and Thr399Ile was performed ...
Urreizti R - - 2010
Methylenetetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism. Disturbed function of the enzyme results in hyperhomocysteinemia and causes severe vascular and neurological disorders and developmental delay. Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and ...
Yeh Chun-Nan - - 2010
Imatinib mesylate (IM) demonstrates substantial efficacy in most patients with metastatic gastrointestinal stromal tumors (GISTs). However, progression of GIST eventually develops and emerges as a challenge. To assess the role of surgery in the multidisciplinary management of GISTs, we studied the surgical outcomes in GIST patients receiving IM. Between 2001 ...
Rudge P - - 2010
There are at least 30 different mutations in the prion gene that cause clinical disease. Two of the most frequent in the UK are six octapeptide repeat insertion (6-OPRI) and P102L point mutation. We studied the neuropsychological profile of 18 symptomatic patients with the 6-OPRI and eight patients with the ...
de Greef J C - - 2010
In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4Z4 contractions (FSHD1). This commonality suggests that ...
Mollerup H M - - 2011
patients undergoing electroconvulsive therapy (ECT) often receive succinylcholine as part of the anesthetic procedure. The duration of action may be prolonged in patients with genetic variants of the butyrylcholinesterase enzyme (BChE), the most common being the K- and the A-variants. The aim of the study was to assess the clinical ...
Stratigopoulos George - - 2010
OBJECTIVE: To investigate the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA). DESIGN: Measurement of PLS3 messenger RNA levels in the blood of patients with types I, II, and III SMA. SETTING: Pediatric Neuromuscular Clinical Research Network SMA Natural ...
Bachmann-Gagescu Ruxandra - - 2010
The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements. Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5-30.1 Mb) have been associated with autism, intellectual disability, congenital anomalies, and schizophrenia. However, a separate, distal 200-kb ...
Stein Brady L - - 2011
Suppression of normal hematopoiesis by the neoplastic clone (clonal dominance) is a feature of the myeloproliferative neoplasms, but the determinants that predict clonal dominance are unknown. The objective of this study was to identify clinical and laboratory variables that associate with the JAK2 V617F CD34(+) progenitor allele burden and clonal ...
Quinlivan R - - 2010
The clinical phenotype of 45 genetically confirmed McArdle patients is described. In the majority of patients (84%), the onset of symptoms was from early childhood but diagnosis was frequently delayed until after 30 years of age. Not all patients could recognise a second wind although it was always seen with ...
Wortmann S B - - 2010
OBJECTIVE: 3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease. The natural course of disease is unknown. METHODS: This is a study on 10 patients with 3-methylglutaconic aciduria type ...
Yamada Masafumi - - 2010
X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two patients with CGS involving ...
Clarke Joe T R - - 2011
Late-onset GM2 gangliosidosis is an autosomal recessive, neurodegenerative, lysosomal storage disease, caused by deficiency of ß-hexosaminidase A (Hex A), resulting from mutations in the HEXA (Tay-Sachs variant) or the HEXB (Sandhoff variant) genes. The enzyme deficiency in many patients with juvenile or adult onset forms of the disease results from ...
Del Rizzo Monica - - 2010
Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile-onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving patients ...
Yeung Wai-Lan - - 2011
This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe ...
Goiato Marcelo Coelho - - 2010
The record of electrical activity of elevator muscles in mandible is important for the evaluation of muscular potency and diagnosis of neuromuscular pathologies, which allows prevention and treatment. The aim of this study was to define silent periods (SPs) and the importance in dentistry and compare the SPs in masticatory ...
Wiboonchutikul Surasak - - 2010
Protease inhibitor (PI) resistance-associated mutations (RAMs) are commonly observed in PI-naïve patients who infected with HIV-1 subtype A/E. Few data are available on the genetic mechanisms of PI resistance in non-B HIV-1. This study was aimed to compare PI-RAMs between PI-naïve and -experienced patients and determine PI resistance in each ...
Kovac Mirjana K - - 2010
A single nucleotide polymorphism c.-1639G>A in the promoter region of vitamin K-epoxide reductase (VKORC1) gene has been found to account for most of the variability in response to oral vitamin K antagonist (VKA). Our aim was to study the effect of c.-1639G>A polymorphism on the acenocoumarol dosage requirements in a ...
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