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Kang Hee Gyung HG Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, - - 2014
Progressive retinal degeneration without retinal pigmentation has been repeatedly observed in Korean nephronophthisis (NPHP) type 1 patients with a total homozygous deletion of NPHP1. Retrospective case series PARTICIPANTS: Patients with clinical diagnosis of NPHP and genetic diagnosis of total deletion of NPHP1 (n = 5) were included in this study. ...
Turetsky Bruce I BI Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: - - 2014
Reduced auditory P300 amplitude is a robust schizophrenia deficit exhibiting the qualities of a viable genetic endophenotype. These include heritability, test-retest reliability, and trait-like stability. Recent evidence suggests that P300 may also serve as a predictive biomarker for transition to psychosis during the schizophrenia prodrome. Historically, the utility of the ...
Sabanciogullari Vedat V Department of Anatomy, School of Medicine, Cumhuriyet University, Sivas 58140, Turkey. Tel. +90 (346) 2191010. Fax. +90 (346) 2191284. E-mail: - - 2014
To examine dermatoglyphic features to clarify implicated genetic predisposition in the etiology of multiple sclerosis (MS). The study was conducted between January and December 2013 in the Departments of Anatomy, and Neurology, Cumhuriyet University School of Medicine, Sivas, Turkey. The dermatoglyphic data of 61 patients, and a control group consisting ...
Schadewaldt Peter P Institute of Clinical Biochemistry and Pathobiochemistry, German Diabetes Center at the Heinrich-Heine-University Duesseldorf, Leibniz Center for Diabetes Research , Duesseldorf , Germany - - 2014
Abstract Patients with classical galactosaemia (galactose-1-phosphate uridyltransferase (GALT) deficiency) manifest clinical complications despite strict dietary galactose restriction. Therefore the significance of endogenous galactose production has been assessed. Previous in vivo studies primarily focused on patients homozygous for the most common genetic variant Q188R but little is known about other genetic ...
Rodríguez-Ribera Lara - - 2014
Abstract Purpose: Patients suffering from chronic kidney disease (CKD) exhibit a high incidence of cancer, as well as high levels of genetic damage. We hypothesized that these patients show genomic instability detected as an increased chromosomal radiosensitivity in front of the genetic damage induced by ionizing radiation. Material and methods: ...
Fu Chao-Hua - - 2014
Background:In this study, we evaluated the performance of a point-of-care device, the CoaguChek XS Plus system, in the determination of prothrombin time and international normalized ratio (INR) based on ISO17593: 2007 criteria in Taiwanese patients. The underlying clinical and genetic factors were also investigated. Methods: Fifty patients receiving warfarin therapy ...
Lee Ji Eun JE 0000-0002-8660-0861 Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, - - 2014
A 73-yr-old Korean man with permanent atrial fibrillation visited outpatient clinic with severely increased International Normalized Ratio (INR) values after taking a usual starting dosage of warfarin to prevent thromboembolism. We found out later from his blood tests that he had hyperthyroidism at the time of treatment initiation. His genetic ...
Bayramlar Hüseyin - - 2014
To evaluate the surgical outcomes of slanted medial rectus recession in patients diagnosed as having convergence excess esotropia. Bilateral slanted recession of medial rectus muscles was performed in 16 patients with convergence excess esotropia. The lower margins of medial rectus muscles were recessed 1 to 2 mm more than the ...
Yazdani Shahin S *Ophthalmic Research Center †Department of Optometry, Rehabilitation Faculty, Shahid Beheshti University of Medical Sciences, Tehran, - - 2014
To determine the frequency of angle closure in siblings of patients with primary angle-closure glaucoma (PACG). In this cross-sectional observational study, siblings of consecutive patients with PACG underwent a comprehensive ophthalmologic examination, including slit-lamp biomicroscopy, measurement of intraocular pressure, stereoscopic optic nerve head examination, and dynamic gonioscopy. Ultrasonic pachymetry was ...
Chao Chia-Ter CT Department of Medicine, National Taiwan University Hospital Jin-Shan branch, New Taipei City, Taiwan; Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, - - 2014
Geographic remoteness has been found to influence health-related outcomes negatively. As reported in the literature, rural dialysis patients have a higher risk of mortality with increasing travel distance to dialysis units. However, few studies have focused on the impact of travel distances on the development of dialysis complications. We utilized ...
Ingle L L Department of sport, health & exercise science, university of Hull, 003 Don building, Cottingham road, Kingston-upon-Hull, HU7 6RX, United Kingdom. Electronic address: - - 2014
To assess the prognostic implications of the 6-minute walk test (6-MWT) distance measured twice, one year apart, in a large sample of patients with chronic heart failure (CHF) followed for an extended period (>8years from baseline). Patients undertook a 6-MWT at baseline and at one year, and were followed up ...
Polinski Jennifer M - - 2014
Objective: Disease-modifying antirheumatic drugs (DMARDs) are recommended for all patients with rheumatoid arthritis (RA). Some estimate that approximately one-half of patients with RA do not receive DMARDs. We hypothesized that patients with RA living further from rheumatologists would be less likely to receive RA diagnoses and to receive DMARDs. Methods: ...
Wee Seng Kwee SK 1University of Southampton, Southampton, - - 2014
. Many stroke patients exhibit excessive compensatory trunk movements during reaching. Compensatory movement behaviors may improve upper extremity function in the short-term but be detrimental to long-term recovery. . To evaluate the evidence that trunk restraint limits compensatory trunk movement and/or promotes better upper extremity recovery in stroke patients. . ...
Beekman Emmylou E Department of Epidemiology, Maastricht University, The Netherlands. - - 2013
Do patients with chronic obstructive pulmonary disease (COPD) achieve a different distance on the six minute walk test (6MWT) conducted on a 10m course versus on a 30m course? When assessing the distance on a 6MWT conducted on a 10m course, is it valid to use existing reference equations that ...
Coelho Daniel M - - 2013
Patients with idiopathic scoliosis are exposed to approximately 25 radiographic examinations of their spine throughout the clinical follow-up using the Cobb angle. Several non-invasive and radiation-free methods have been proposed to measure scoliotic deformities, including the scoliometer. To measure the intra- and interrater reliability of the scoliometer measurements, to assess ...
Zhou Shuncheng - - 2013
Previous studies have confirmed that patients with mandibular deviation often have abnormal morphology of their cervical vertebrae. However, the relationship between mandibular deviation, scoliosis, and trunk balance has not been studied. Currently, mandibular deviation is usually treated as a single pathology, which leads to poor clinical efficiency. We investigated the ...
Chiaramonti Bárbara Camargo BC Institute of Orthopedics and Traumatology of Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo - SP, - - 2013
To analyze through tomographic studies, the morphology and dimensions of the C1-C2 vertebrae in pediatric patients, to evaluate the possibility of application of Magerl's technique in these patients, and to contribute with data for the usage of the technique in safety. Forty normal cervical tomographies, from patients at an age ...
Ionescu Radu - - 2011
A cross-reactive array of polycyclic aromatic hydrocarbons and single wall carbon nanotube bilayers was designed for the detection of volatile organic compounds (tentatively, hexanal and 5-methyl-undecane) that identify the presence of disease in the exhaled breath of patients with multiple sclerosis. The sensors showed excellent discrimination between hexanal, 5-methyl-undecane, and ...
Park Eun Kyung - - 2011
PURPOSE: Thirty-four pediatric age patients with unilateral moyamoya disease (MMD) were reviewed to analyze the natural history and the predictive factors for progression to bilateral MMD. METHODS: Forty out of 259 MMD patients cared for between January 2000 and June 2008 in the Severance Hospital had unilateral lesion. These patients ...
Jang Yong Ju - - 2011
OBJECTIVES/HYPOTHESIS: To describe the radiologic characteristics of empty nose syndrome (ENS) and to assess outcomes of endonasal microplasty using cartilage implants in patients with ENS. STUDY DESIGN: A retrospective clinical chart review. METHODS: We assessed 17 patients diagnosed with ENS who had undergone prior nasal turbinate surgery. The presence of ...
O'Connor P W - - 2011
Due to a heightened risk of progressive multifocal leukoencephalopathy (PML) with increased natalizumab exposure, some physicians interrupt treatment of patients with multiple sclerosis (MS) despite a lack of data regarding the safety of treatment interruption, the rate and severity of MS disease activity return after treatment interruption, or alternative treatment ...
Asahina Masato - - 2011
OBJECTIVE: Sweating on the palms of the hands and soles of the feet, so-called emotional sweating, is considered to be mediated by the limbic system, including the amygdala and anterior cingulate cortex. To reveal involvement of the limbic system in emotional sweating, we evaluated emotional sweating on the palms in ...
Mahfoudh Anis - - 2011
Background: Hyalinosis cutis et mucosae (HCM), is a rare autosomal recessive genodermatosis. Cutaneous features are characteristic and allow to suspect diagnosis. Aim: To report a series of HCM. Methods: A retrospective study of all cases of HCM, diagnosed in a dermatology department over a period of 25 years (1983-2007). Results: ...
Goldstein David S - - 2011
It has been suggested that autonomic dysfunction constitutes a biomarker for early detection of the disease process in Parkinson disease (PD). Recent findings based on cardiac sympathetic and striatal dopaminergic imaging in the same patients indicate that this view is overly simple. Although evidence of cardiac sympathetic denervation is associated ...
Wierzbicka MaƂgorzata - - 2011
To present the results of recurrent respiratory papillomatosis (RRP) treatment with surgical excision and adjuvant anti-viral cidofovir intralesional use and to examine the correlation between the cidofovir effectiveness and the patient previous history of multiple larynx procedures, age, extension of lesion and dose. 32 patients with laryngeal papillomas were treated ...
Bailin Steven J - - 2011
Aims Ablation of atrioventricular nodal reentry tachycardia (AVNRT) has become treatment of choice because of a high success and low complication rate. Most ablations are successful in utilizing an anatomic approach, but anatomic variance, unusual pathway locations, or multiple pathways may complicate the procedure. Visualization of the slow pathway could ...
Jerjes Waseem - - 2011
The use of the CO(2) laser in the management of oral dysplastic lesions has become a more common practice. Very few studies have evaluated recurrence, residual disease malignant transformation, and overall outcome in patients undergoing such a procedure. In this prospective study, a total of 123 oral dysplastic lesions from ...
Licata Anna - - 2011
Celiac disease (CD) is a gluten-triggered enteropathy, presenting with insidious clinical patterns. It can occasionally be diagnosed in asymptomatic subjects. Our aim was to define the relationship among symptoms at diagnosis, serological markers [tissue transglutaminase antibodies (tTGA), anti-endomysium antibodies (EMA) anti-actin antibodies (AAA)] and degree of mucosal damage. A total ...
Etemadi Arash - - 2011
Although for asymptomatic hepatic hemangiomas conservative management is generally recommended, factors affecting the disease course are still not very well understood. To determine disease characteristics of cavernous hemangioma and factors affecting its progression in patients from a general hepatology clinic in Tehran, Iran. We reviewed medical records of 198 patients ...
Khalid A B - - 2011
Guidelines and practices differ regarding evaluation of young patients with fresh bleeding per rectum (FBPR). The aim of this study was to determine the frequency and site of endoscopic lesions in young patients with FBPR, and to thereby determine whether full colonoscopic examination is necessary in these patients. Consecutive patients ...
Nasser Wasim - - 2011
J Oral Pathol Med (2011) Background:  The risk of malignant progression of oral leukoplakia with and without dysplasia is unpredictable. Materials and methods:  Leukoplakias without dysplasia of 35 patients, leukoplakias with dysplasia of 4 patients, and similar lesions obtained from tumor patients were retrospectively examined by immunohistochemistry for the expression ...
Terzi Murat - - 2011
ABSTRACT Aim: The objectives of this study were to investigate the lesion load on brain magnetic resonance images and the volume of different cerebral anatomical structures, in patients with a diagnosis of definite multiple sclerosis, using a stereological method. Methods: Fifty patients diagnosed with multiple sclerosis were included in the ...
Hatef Elham E Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street-Maumenee 745, Baltimore, MD, 21287, - - 2011
The study aims to evaluate a series of patients with initial diagnosis of ocular histoplasmosis syndrome (OHS) with progression and response to treatments consistent with multifocal choroiditis (MFC). Retrospective review of nine patients referred for management of recurrent OHS lesions. Serology panel was conducted to rule out autoimmune and infectious ...
Hirvonen Timo P - - 2011
Utricular dysfunction has been indirectly measured with subjective visual horizontal or vertical testing. Video-oculography equipment with integrated head position sensor allows direct evaluation of head tilt. The aim was to assess head tilt after peripheral vestibular lesion by recording tilting of the head after excluding visual cues (static test condition), ...
Plowman Emily - - 2011
Rationale, aims and objectives  Recovery of language function in individuals with post-stroke aphasia is associated with a variety of patient and stroke-related indices. Amidst a complex interaction of a multitude of variables, clinicians are faced with the arduous challenge of predicting aphasia recovery patterns and subsequently, long-term outcomes in these ...
Prosperini Luca - - 2011
OBJECTIVE: The role of static posturography and magnetic resonance imaging (MRI) in identifying patients at high risk of falls was investigated. Relationships between static posturography measures and MRI metrics were also investigated. METHODS: A total of 31 ambulatory MS patients (EDSS ranging from 2.0 to 5.0) with a predominant balance ...
Mesaros S - - 2011
BACKGROUND AND PURPOSE: Reliable markers to monitor PPMS are still needed. We investigated whether conventional and DTI measures of thalamic damage are predictive of long-term disability accumulation in PPMS. MATERIALS AND METHODS: Brain conventional and DTI scans were obtained at baseline and after a mean follow-up of 15 months in ...
Nadarajan Veera S - - 2011
The outcome of treating chronic myeloid leukemia (CML) with imatinib mesylate (IM) is inferior when therapy is commenced in late chronic or accelerated phase as compared to early chronic phase. This may be attributed to additional genomic alterations that accumulate during disease progression. We sought to identify such lesions in ...
Absinta M - - 2011
Double inversion recovery (DIR) sequences have improved the detection of cortical lesions (CLs) in adult patients with multiple sclerosis (MS). We evaluated the presence and frequency of CLs in pediatric patients with relapsing-remitting MS (RRMS) in comparison to adult patients with MS with the same clinical phenotype. Using a 3.0-T ...
Kim Yoo Jin - - 2011
Sinus pericranii is a rare venous anomaly, which shows abnormal communication between the intracranial and extracranial venous systems. Sonograms of sinus pericranii in 4 children were retrospectively reviewed to evaluate the following imaging findings: the overall sonographic appearance, change in size and shape, Doppler flow pattern, and associated anomalies. All ...
Bagadia Anshul - - 2011
We aimed to assess the role of preoperative diffusion tensor tractography (DTT) in the surgical planning and prognostication of the postoperative outcome of patients with lesions in the eloquent areas of the brain. From 2006 to 2009, 50 patients were preoperatively evaluated with DTT and image-guidance studies. Three-dimensional (3D) color ...
Karam Maroun - - 2011
Detection of large cell transformation (LCT) has been reported with the increasing use of PET/computed tomography (CT) in patients with indolent lymphomas. However, there is little information on PET/CT characteristics, specifically, the distribution of lesion maximum standardized uptake value (SUVmax) within a patient, or SUVmax changes before and after LCT. ...
Toutouzas Konstantinos - - 2011
The impact of drug-eluting stents (DES) has not been extensively investigated in patients with moderate to severe renal dysfunction, as these patients are consistently excluded from randomised studies. We sought to assess prospectively the effectiveness and safety of the new-generation DES in patients with moderate chronic kidney disease (CKD) and ...
Kavala M - - 2011
Background  Pemphigus vulgaris (PV) is the most common clinical form of pemphigus that is characterized by easily ruptured or loose bulla formation on skin and/or mucosa. The frequency of the ear, nose and throat involvement of PV is not clearly defined. Objectives  To evaluate the frequency of ear, nose and ...
Massari S - - 2011
Background: The aim of this study was to determine the occurrence of gluten sensitivity (GS) in a group of allergic patients and to assess the efficacy of a gluten-free diet (GFD) on the improvement of the symptomatology in those who were diagnosed with GS. Methods: 262 unrelated allergic patients with ...
Ogar J M JM Memory Aging Center, UCSF Department of Neurology, San Francisco, CA, United States. - - 2011
Few studies have directly compared the clinical and anatomical characteristics of patients with progressive aphasia to those of patients with aphasia caused by stroke. In the current study we examined fluent forms of aphasia in these two groups, specifically semantic dementia (SD) and persisting Wernicke's aphasia (WA) due to stroke. ...
Chu Pen-Yuan - - 2011
BACKGROUND: We evaluated the effectiveness of narrow band imaging (NBI) in patients with oral squamous cell carcinoma (OSCC) after treatment. METHODS: In all, 101 consecutive OSCC patients underwent NBI examination for posttreatment follow-up. Four patients had local recurrence. Twenty-six second primary malignancies were found in 18 patients; 6 patients (33%) ...
Goenka Mahesh Kumar MK Institute of Gastroenterology, Apollo Gleneagles Hospital, 58 Canal Circular Road, Kolkata-700054, India. - - 2011
To identify optimum timing to maximize diagnostic yield by capsule endoscopy (CE) in patients with obscure gastrointestinal bleeding (OGIB). We identified patients who underwent CE at our institution from August 2003 to December 2009. Patient medical records were reviewed to determine type of OGIB (occult, overt), CE results and complications, ...
Tanaka Masami - - 2011
Background: The number of contrast-enhancing brain lesions is used as an endpoint in multiple sclerosis (MS) clinical trials. However, the incidence of asymptomatic contrast-enhancing brain lesions (AEBLs) in Japanese patients with MS has not been determined. Objective: To describe the number of AEBLs per scan in Japanese patients with relapsing-remitting ...
Zhang Yan - - 2011
OBJECTIVE: To evaluate the prognostic value of middle-latency somatosensory evoked potential (MLSEP) in comatose patients with acute severe supratentorial stroke, considering both unfavourable outcome and death. METHODS: Eighty-eight patients with acute severe supratentorial stroke underwent MLSEP, short-latency somatosensory evoked potential (SLSEP), Glasgow Coma Scale (GCS) and cerebral computed tomography (CCT) ...
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