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Mărginean Cristina Oana CO Pediatrics Clinic I, University of Medicine and Pharmacy Tîrgu Mureş, Tîrgu Mureş, - - 2014
The aim of this study was to establish the role of angiotensin-converting enzyme gene insertion/deletion (ACE I/D) polymorphism in determining obesity or undernutrition in a child population in Romania. We assessed 293 consecutively hospitalized patients in a tertiary emergency pediatric hospital. The patients were divided, according to body mass index ...
Zhan Xian-Bao XB Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai 200433, - - 2014
To explore the prevalence and risk factors of upper gastrointestinal bleeding(UGIB) in patients with severe acute pancreatitis(SAP). The treatment strategy of SAP changed greatly during the past decade, but the prevalence and risk factors of the complicated UGIB are still unclear. From July 2006 to June 2010, retrospective data on ...
Pullicino Patrick M PM University of Kent, Canterbury, - - 2014
Background and Purpose: WARCEF randomized 2,305 patients in sinus rhythm with ejection fraction (EF) ≤35% to warfarin (INR 2.0-3.5) or aspirin 325 mg. Warfarin reduced the incident ischemic stroke (IIS) hazard rate by 48% over aspirin in a secondary analysis. The IIS rate in heart failure (HF) is too low ...
Moon Byung Hoo BH Department of Neurosurgery, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, - - 2014
This study was conducted to clarify the association factors and clinical significance of the CT angiography (CTA) spot sign and hematoma growth in Korean patients with acute intracerebral hemorrhage (ICH). We retrospectively collected the data of 287 consecutive patients presenting with acute ICH who arrived within 12 hours of ictus. ...
Voss Stephan D SD Department of Radiology, Boston Children's Hospital Dana -Farber Cancer Institute, Boston, - - 2014
Pre-clinical studies suggest that anti-angiogenic agents may be toxic to the developing growth plate. The purpose of this study was to evaluate the incidence of growth plate abnormalities in children with refractory cancer undergoing anti-angiogenic therapy. Targeted radiographic studies from 53 subjects enrolled on six separate Children's Oncology Group Phase ...
Zoccali Carmine C 1] Nephrology, Hypertension and Renal Transplantation Unit, Ospedali Riuniti, Reggio Calabria, Italy [2] CNR (National Research Council of Italy) Institute of Clinical Physiology (IFC), Clinical Epidemiology and Physiopathology of Renal Diseases and Hypertension Unit, Ospedali Riuniti, Reggio Calabria, - - 2014
Mechanistic studies suggest that angiotensin II receptor blockers (ARBs) may have pleiotropic effects on the cardiovascular system in hemodialysis patients. A new randomized trial by Peters et al. failed to show a benefit of irbesartan on biomarkers of arterial stiffness, left ventricular mass, and autonomic nerve function. Their findings suggest ...
Moon Byeong Hoo BH Department of Neurosurgery, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 137-701, Republic of - - 2014
We studied the applicability of the Acute Physiology and Chronic Health Evaluation II (APACHE II) and Simplified Acute Physiology Score II (SAPS II) in patients admitted to the intensive care unit (ICU) with acute stroke and compared the results with the Glasgow Coma Scale (GCS) and National Institutes of Health ...
Nakayama Tojo T Department of Pediatrics, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan. Electronic address: - - 2014
Ataxia telangiectasia (A-T) is a common inherited cause of early childhood-onset ataxia, distinguished by progressive cerebellum malfunction, capillary vessel extension, and immunodeficiency. The diagnosis of A-T is sometimes difficult to establish in patients with atypical clinical evolution. We experienced a pediatric 12-years-old female patient, who was finally diagnosed with classic ...
Lossos Alexander A Center for Human Neurogenetics, Department of Neurology and Agnes Ginges, Hebrew University-Hadassah Medical Center, Jerusalem, - - 2014
IMPORTANCE Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis partially ...
Chien Wade Wei-De WW *National Institute on Deafness and Other Communication Disorders, and †National Institute on Allergy and Infectious Diseases, National Institutes of Health, Bethesda; and ‡Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland, - - 2014
To report the auditory and vestibular phenotypes of patients with GATA3 mutation. Case series of 6 patients. Tertiary referral center. All patients had the classic triad of GATA3 deficiency: hypoparathyroidism, hearing loss, and renal dysplasia. Patients (29-60 yr old; mean age, 42.5 yr; 3 male and 3 female subjects) were ...
Grasemann Hartmut H Hospital for Sick Children, Toronto, ON, Canada - - 2013
In this case report, ivacaftor was used as therapy and as an indicator to show that aquagenic wrinkling of the palms in a patient with the G551D cystic fibrosis mutation is related to the presence of this cystic fibrosis transmembrane conductance regulator variant.
Sarov Mariana - - 2013
Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism. To report a case of homocystinuria unraveled by cerebral venous thrombosis (CVT). A 17 year old female ...
Hata Akito - - 2013
The secondary epidermal growth factor receptor (EGFR) mutation Thr790Met (T790M) accounts for approximately half of acquired resistances to EGFR-tyrosine kinase inhibitor (TKI). Recent reports have demonstrated that the emergence of T790M predicts a favorable prognosis and indolent progression. However, rebiopsy to confirm T790M status can be challenging due to limited ...
Barbui Tiziano - - 2013
Major causes of morbidity and mortality in myeloproliferative neoplasms (MPN) are represented by arterial and venous complications, progression to myelofibrosis and transformation to acute leukemia. The pathogenesis of thrombosis results from a complex interplay of clinical and disease-related factors. Abnormalities of blood cells arising from the clonal proliferation of hematopoietic ...
Kim Ok-Hwa - - 2013
Osteogenesis imperfecta (OI) type V is a specific OI phenotype with interosseous membrane calcification of the forearm and hyperplastic callus formation as typical features. The causative gene mutation for OI type V has been recently discovered. The purpose of this report is to review the clinical and radiographic characteristics of ...
Margari Lucia - - 2013
Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis confined to females. It is usually lethal in males. However, the survival of some males has been reported in literature. We describe a long follow-up case of a 12-year-old male with IP and a normal karyotype but a genomic deletion of the ...
Li Ben C - - 2013
We present two patients with Atelosteogenesis Type I (AO type I) caused by two novel Filamin B (FLNB) mutations affecting the same FLNB residue: c.542G > A, predicting p.Gly181Asp and c.542G > C, predicting p.Gly181Arg. Both children had typical manifestations of AO type I, with severe rhizomelic shortening of the ...
Klooster Jan J Retinal Signal Processing, Netherlands Institute for Neuroscience, Amsterdam, The - - 2013
Complete congenital stationary night blindness (CSNB1) is characterized by loss of night vision due to a defect in the retinal ON-bipolar cells (BCs). Mutations in GPR179, encoding the G-protein-coupled receptor 179, have been found in CSNB1 patients. In the mouse, GPR179 is localized to the tips of ON-BC dendrites. In ...
Singer Kanakadurga - - 2012
Background:Activating mutations of the TSH receptor (TSHR) are rare, with few reported cases of long-term follow-up.Case:We present a follow-up report on a patient with neonatal thyrotoxicosis known to have a rare activating mutation of the TSHR, a heterozygous substitution in exon 10 (p.Ile568Thr). Initial treatment included total thyroidectomy at age ...
Heinen Stefan S Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, - - 2013
Atypical hemolytic uremic syndrome (aHUS), is mainly present in children, who have high risks of end-stage kidney disease (ESKD), post-transplant recurrence and death. aHUS is linked to defective regulation of the complement alternative pathway (AP), with a prominent cause being mutation/inhibition of the negative regulator complement factor H (CFH). CFH ...
Coelho Teresa - - 2012
Background: Transthyretin (TTR) amyloidosis is a rare, life-threatening, systemic, autosomal dominant condition occurring in adults, with two main forms: hereditary (associated with TTR gene mutations) and wild-type. Studies indicate considerable heterogeneity in disease presentation, with predominantly polyneuropathic, predominantly cardiac, or mixed phenotypes. Methods: THAOS - the Transthyretin Amyloidosis Outcomes Survey ...
Bates Matthew G D MG Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK. - - 2013
Hypertrophic remodelling and systolic dysfunction are common in patients with mitochondrial disease and independent predictors of morbidity and early mortality. Screening strategies for cardiac disease are unclear. We investigated whether myocardial abnormalities could be identified in mitochondrial DNA mutation carriers without clinical cardiac involvement. Cardiac magnetic resonance imaging was performed ...
Parajes Silvia S School of Clinical and Experimental Medicine, Institute of Biomedical Research, Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Wolfson Drive, Birmingham B15 2TT, - - 2012
Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, the conversion of cholesterol to pregnenolone. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development (DSD). The patient was born with hyperpigmentation, micropenis, penoscrotal hypospadias, ...
Cantarini Luca - - 2012
The aim of our study was to evaluate the association between circulating levels of serum amyloid A protein (SAA) and disease activity in patients with juvenile idiopathic arthritis (JIA). Our study group included 41 JIA patients (9 male, 32 female), classified according to the International League of Associations for Rheumatology ...
Naderi Fereshteh - - 2012
Cerebellar tremor is a disabling sign of multiple sclerosis (MS), and various kinds of treatments have been proposed with different results. Primidone is one of the medications, mostly advised for essential tremor. The aim of our study was to determine the tolerability and efficacy of primidone in reducing severe cerebellar ...
Kim Min-Beom - - 2012
OBJECTIVES/HYPOTHESIS: To investigate the clinical characteristics of benign paroxysmal positional vertigo (BPPV) associated with idiopathic sudden sensorineural hearing loss (ISSHL) and to compare them with the characteristics of idiopathic BPPV (i-BPPV). STUDY DESIGN: Retrospective case series. METHODS: We retrospectively analyzed 519 patients with ISSHL and 597 patients with i-BPPV. The ...
Skinner Carl G - - 2012
We conducted a prospective randomized controlled study on the influence of multiple doses of activated charcoal (MDAC) in patients with supratherapeutic serum phenytoin levels; Patients with serum phenytoin levels greater than 30 mg/L upon presentation to the ED were recruited from two urban teaching hospitals. Patients enrolled were older than ...
Yurube Takashi - - 2012
STRUCTURED ABSTRACT: Study Design. A prospective minimum 5-year follow-up study of the cervical spine in rheumatoid arthritis (RA) patients initially without cervical involvement.Objective. To clarify the incidence and aggravation of cervical spine instabilities and their predictive risk factors in patients with RA.Summary of Background Data. Many reports have shown the ...
Erdem Alim - - 2012
AIM: The aim of this study was to investigate the frequency of mitral valve prolapse (MVP) in patients with supraventricular tachycardia (SVT) who were diagnosed by intracardiac electrophysiological study (EPS). METHOD: The study was a retrospective cohort of 378 adult patients (128 males and 250 females, 17 to 63 years) admitted ...
Richard Jean-Louis - - 2012
The aim is to compare the frequency of increased vibration perception threshold (VPT) with abnormal 10-g Semmes-Weinstein monofilament (SWF) testing in a non selected diabetic population and to assess the agreement between these two screening methods. VPT was measured using a neurothesiometer at the pulp of the hallux and 10-g ...
Arrabal-Polo Miguel Angel - - 2012
The objective of this study is to analyze the alterations in bone mineral density and bone and calcium-phosphorus metabolism in patients with calcium nephrolithiasis. We designed a study with 182 patients who were distributed among three groups: group O, 56 patients without nephrolithiasis; group A, 67 patients with calcium nephrolithiasis ...
Kase Satoru - - 2012
This is the first report showing the clinical course of a patient with bilateral IgG4-related dacryoadenitis, which spontaneously regressed after excision of the left lacrimal gland. A 65-year-old female had been aware of bilateral eyelid swelling without pain for 5 years. Magnetic resonance imaging revealed enlargement of bilateral lacrimal gland. Laboratory ...
He Z - - 2012
BACKGROUND: Given the important role of the default mode network (DMN) in cognitive function and the well-known neurocognitive deficit in schizophrenia, it is intriguing to examine systematically the relationship between neurocognitive dysfunction and aberrant intrinsic activities, and also functional connectivity, of the DMN in patients with schizophrenia. Method First-episode, treatment-naive ...
Balli Sevket - - 2012
Various rhythm and conduction abnormalities can develop in acute rheumatic fever. This study investigated rhythm and conduction abnormalities in children with acute rheumatic fever using a standard 12-lead electrocardiogram and 24-h rhythm Holter recordings. This multicenter retrospective study, performed between August 2011 and March 2012, enrolled 73 consecutive children with ...
Tezer F Irsel - - 2012
OBJECTIVE: Our aim was to investigate if spatial hearing is impaired in mesial temporal lobe epilepsy and temporal lobectomy has an effect on this function. METHODS: Thirteen patients with mesial temporal lobe epilepsy (TLE) due to sclerosis in their left (n=6) or right (n=7) hippocampus were studied. Their sound lateralisation ...
Stilo F - - 2012
BACKGROUND:Selective shunting during carotid endarterectomy (CEA) is advocated to reduce shunt-related stroke. Cerebral monitoring is essential for temporary carotid shunting. Many techniques are available for cerebral monitoring; however, none is superior to monitoring the patient's neurological status (awake testing) while performing the procedure under local anaesthesia (LA). OBJECTIVE: Cerebral oximetry ...
Xiao Y - - 2012
The Chicago Classification (CC) of Esophageal Motility Disorders is based on 10 water swallows performed in the supine position. The aim of the study was to assess whether upright and provocative swallows (PS) provided important information beyond that obtained from the standard supine manometric protocol. Two independent investigators reviewed high-resolution ...
Tsang B K-T - - 2012
We describe a case of headache and neurological deficits with cerebrospinal fluid (CSF) lymphocytosis in a patient presenting with a 3-week history of recurrent severe headaches associated with negative sensory symptoms and dysphasia. The patient had no cardiovascular risk factors and no family history of migraines. Neurological examination was unremarkable. ...
Huang Chi-Hsuan - - 2012
OBJECTIVE: This study applied ocular vestibular-evoked myogenic potential (oVEMP) and cervical VEMP (cVEMP) tests in Ménière's patients with Tumarkin falls to investigate the etiologic role of the saccule/utricle in the event of Tumarkin falls. STUDY DESIGN: Retrospective study. SETTING: University hospital. SUBJECTS: Twenty unilateral definite Ménière's patients were divided into ...
Spaziani Erasmo - - 2012
BACKGROUND: Adenomyomas of the gallbladder are difficult to examine during standard ultrasound examination of the abdomen. They sometimes undergo malignant transformation and their optimal management still remains a problem. The authors have aimed to investigate the ultrasonographic and histopathological prevalence of gallbladder adenomyomas focusing on the diagnostic performance of ultrasound ...
Sahin Tayfun - - 2012
BACKGROUND: We aimed to investigate the effects and dose dependency of aspirin on endothelial functions and prevalence of aspirin resistance in newly diagnosed hypertensive patients without previous drug therapy and development of cardiac complications. HYPOTHESIS: Acetylsalicyclic acid improves endothelial function. METHODS: Fifty-eight hypertensive patients and 61 healthy subjects in the ...
Schuitemaker Alie - - 2012
Inflammatory mechanisms, like microglial activation, could be involved in the pathogenesis of Alzheimer's disease (AD). (R)-[(11)C]PK11195 (1-(2-chlorophenyl)-N-methyl-N-1(1-methylpropyl)-3-isoquinolinecarboxamide), a positron emission tomography (PET) ligand, can be used to quantify microglial activation in vivo. The purpose of this study was to assess whether increased (R)-[(11)C]PK11195 binding is present in AD and mild ...
Saka Naoki - - 2012
Saccular dysfunction is a major cause of balance problems in patients with otosclerosis. Vestibular-evoked myogenic potential in response to bone-conducted sound (BC-VEMP) testing is useful for diagnosis of these patients. The purpose of this study was to elucidate the origin of balance problems in patients with otosclerosis using BC-VEMP. Subjects ...
Zack-Williams Donnia - - 2012
Abstract Objective: To study differences between electrocochleography (ECochG) and cochlear hydrops analysis masking procedure (CHAMP) in diagnosis of Ménière's disease. Design: Retrospective case review from a tertiary referral center. Study sample: Thirty patients suspected to have Ménière's disease were assessed by ECochG and CHAMP tests. Results: Positivity of ECochG with ...
Martinez Del Pero Marcos - - 2012
The objective of this prospective cross-sectional study is to describe the clinical otorhinolaryngological manifestations of granulomatosis with polyangiitis (Wegener's) (GPA) in a prospective cohort. All patients suffering from GPA seen in a tertiary centre between March 2007 and November 2008 had a detailed clinical assessment by an ENT surgeon of ...
De Mits Sophie - - 2012
OBJECTIVE: Foot involvement is a major feature in RA, leading to structural deformities. Methods to allow a 3D evaluation of foot structure in RA, applicable in daily clinical practice have not been evaluated. This study assesses the use of a foot digitizer, a non-invasive 3D scanner collecting objective quantitative data ...
Bytzer Peter - - 2012
BACKGROUND & AIMS: The efficacy of proton-pump inhibitor (PPI) therapy is often assessed to determine whether patients' symptoms are acid-related and if patients have gastroesophageal reflux disease (GERD), although the accuracy of this approach is questionable. We evaluated the diagnostic performance of the PPI test, in conjunction with other tests, ...
Sonder Judith M - - 2012
BACKGROUND: The Multiple Sclerosis Neuropsychological Screening Questionnaire (MSNQ) was developed for screening of MS patients at risk for cognitive impairment with a patient self-report (MSNQ-P) and an informant version (MSNQ-I). The objective of this study was to validate the Dutch versions and determine their interpretability. METHODS: The MSNQ was completed ...
Chang Hung-Yu - - 2012
AIMS: It remains unclear as to whether regional atrial substrates of certain areas of the atrium in patients with atrial fibrillation (AF) can be related to sinoatrial node dysfunction. We investigated the relationship between the biatrial substrate characteristics and sinus node function in these patients.METHODS AND RESULTS: The study enrolled ...
Amiot A - - 2012
Background  Chronic intestinal pseudo-obstruction (CIPO) refers to a wide and heterogeneous group of neuromuscular disorders, which classically involve the small intestine. However, further investigation is required to determine if motility disturbances involve all parts of the gastrointestinal (GI) tract. Methods  Medical records and follow-up examinations of 116 adult CIPO patients ...
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