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Magner Martin M Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 12808, Prague 2, Czech - - 2014
TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in TMEM70. Eleven centers from eight European countries, Turkey and Israel participated. All 27 Roma and eight ...
Lahner Edith E Department of Digestive and Liver Disease, Sant'Andrea Hospital, Medical School, Sapienza University , Rome , - - 2014
Abstract Objective. Data on clinical presentation and associated features of patients with type 1 gastric carcinoids (T1-GCs) are scanty. This study aimed to provide detailed data on a series of patients with T1-GCs. Material and Methods. Clinical, laboratory, endoscopic, and histological data were assessed from 31 T1-GCs patients (cross-sectional design), ...
Bilici Ahmet A Department of Medical Oncology, Medical Faculty, Istanbul Medipol University, Tem Avrupa Otoyolu Goztepe Cıkısı, No: 1, Bagcilar, 34214, Istanbul, Turkey, - - 2014
After total (TG) or distal subtotal gastrectomy (DG), patients are at high risk of vitamin B12 (vit-B12) deficiency, which results in elevation of homocysteine levels. The changing of serum vit-B12 and homocysteine levels in patients with gastric cancer is not well known. Seventy-two patients with gastric cancer who had undergone ...
Ahluwalia Jasmina J Departments of *Hematology and †Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India; and ‡Department of Ophthalmology, Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, - - 2014
To study the thrombotic factors, namely deficiencies of plasma proteins C, S, and antithrombin, factor V Leiden mutation, and positivity for antiphospholipid antibodies in young patients with retinal vein occlusion. The thrombophilia parameters listed above were analyzed from the laboratory records of 50 patients with the clinical diagnosis of retinal ...
Naderi Majid M Departement of Pediatric Hematology and Oncology, Ali Ebn-e Abitaleb Hospital, Research Center for Children and Adolescent Health (RCCAH), Zahedan University of Medical Sciences, Zahedan, - - 2014
Background: Factor V deficiency (FVD) is a rare bleeding disorder (RBD) mostly present in regions with a high rate of consanguinity. FVD after FXIII deficiency is the next more prevalent RBD in Sistan and Baluchistan (S&B) in southeastern Iran. The aim of this study was to evaluate the clinical manifestations ...
Schiller Adalbert A Department of Nephrology, University of Medicine and Pharmacy "V. Babes" Timisoara, Timisoara, - - 2014
Vitamin D deficiency is still a common problem particularly in the elderly and in individuals with various degrees of renal impairment. The present study aimed to evaluate the association between plasma concentrations of 25(OH)D and death in a large cohort of prevalent patients on hemodialysis (HD) from south-east Romania, a ...
Cohen-Solal Alain A UMR-S 942, Université Paris Diderot, DHU FIRE, Department of Cardiology, Lariboisière Hospital, AP-HP, 2, rue Ambroise-Paré, 75010 Paris, France. Electronic address: - - 2014
The prevalence of iron deficiency is high -even in the absence of anaemia- in patients with chronic heart failure (HF). Although iron deficiency is easily diagnosed with two biomarkers (serum ferritin and transferrin saturation), it is underdiagnosed in patients with HF. Iron is not only necessary for red blood cells, ...
Beguin Yves Y University Hospital of Liège , Avenue de l'Hopital1, B-4000 Liège , Belgium +32 43 66 72 01 ; +32 43 66 88 55 ; - - 2014
Introduction: Iron is a key element in the transport and utilization of oxygen and a variety of metabolic pathways. Iron deficiency is a major cause of anemia and can be associated with fatigue, impaired physical function and reduced quality of life. Administration of oral or intravenous (i.v.) iron is the ...
Rech Megan A MA Megan A. Rech, Todd Hunsaker, and Jennifer Rodriguez are clinical pharmacists, critical care, Department of Pharmacy Services, Henry Ford Hospital, Detroit, Michigan. - - 2014
Vitamin D has immunomodulating properties. To determine if vitamin D deficiency within 30 days of admission to the intensive care unit in patients with sepsis might be associated with increased all-cause 30-day mortality. In a retrospective cohort study at a large, tertiary, urban, academic medical center, records of patients who ...
Ngai Melissa - - 2014
Background: Vitamin D deficiency is associated with secondary yperparathyroidism and mineral and bone disorder (MBD) in chronic kidney disease (CKD). This study aimed to determine the prevalence of vitamin D insufficiency/deficiency, and the association between vitamin D status and MBD in a multi-ethnic CKD population in Southeast Asia. Methods: Predialysis ...
Rajsekhar Putta P Professor, Department of Medicine, Government General Hospital, Kurnool (Kurnool Medical College , Kurnool, Andra Pradesh, India - - 2014
Vitamin B12 deficiency is widespread than assumed in population. At risk are older people, pregnant women, vegans, patients with renal and intestinal diseases. Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. In the population, the prevalence of vitamin B12 deficiency in younger people is 5% to ...
Ruge T T Department of Surgery, Umeå University , Umeå , - - 2014
Background: Rheumatoid arthritis (RA) is characterized by chronic synovitis and articular cartilage destruction. Increased activities of cathepsin S and cathepsin L, two potent cysteine proteases, are thought to play a role in the pathogenesis of the irreversible articular cartilage destruction. Nevertheless, data regarding the potential importance of the cathepsins as ...
Türkoğlu Oya O Department of Periodontology, School of Dentistry, Ege University, 35100 Izmir, - - 2014
Aim. Cathepsin C is the activator of the polymorphonuclear leukocyte-derived proteinase 3, which contributes to inflammatory processes. The aim of the present study was to investigate gingival crevicular fluid (GCF) proteinase 3 and cathepsin C levels in periodontal diseases. Design. Eighteen patients with chronic periodontitis (CP), 20 patients with generalized ...
Mangat Chetna C Department of Pediatrics, Hurley Children's Hospital, Flint, Michigan, - - 2014
A 2-year-old African-American male patient with sickle cell trait developed cough, red coloured urine, pallor and fatigue. The patient was hospitalised. Diagnostic workup showed that he was glucose 6 phosphate dehydrogenase (G6PD) deficient in erythrocytes. He also had chest X-ray findings of pneumonia. His urine examination showed the presence of ...
Dickson Jon Mark JM Academic Unit of Primary Medical Care, The University of Sheffield, Sheffield, - - 2014
We report a case of inadequate diet (caused by extreme self-neglect and alcohol excess) which led to chronic severe deficiencies of vitamins A, D and E. At presentation the patient had widespread follicular hyperkeratosis of the skin, keratomalacia of both eyes and a severe cognitive impairment. He responded well to ...
Hashimoto Rintaro R Department of Gastroenterology, Sendai Kosei Hospital, - - 2014
A 59-year-old man was orally administered rabeprazole, a proton pump inhibitor (PPI), for gastroesophageal reflux disease, after which he gradually developed iron-deficiency anemia. The anemia did not improve following the administration of ferrous fumarate, and endoscopic screening of the entire gastrointestinal tract, including the small intestine, did not reveal any ...
Kanamori Kenta K The Fourth Department of Internal Medicine, Teikyo University School of Medicine University Hospital, - - 2014
QT prolongation and Torsades de Pointes were observed in a 44-year-old woman who had adrenal insufficiency caused by isolated adrenocorticotropic hormone deficiency. Although she had several risk factors for QT prolongation, we concluded that the adrenal insufficiency contributed to the QT prolongation, because the electrocardiographic changes were improved after steroid ...
Kim Ho Yeon - - 2013
Objectives. To compare the circulating levels of cathepsin D in preeclamptic and normotensive pregnancies. Design and Methods. Fifty pregnant and 20 healthy non-pregnant patients were enrolled in this study. Of the 50 pregnant patients, 15 were preeclamptic and 35 patients were normotensive. Serum levels of soluble cathepsin D were measured ...
Tooth David - - 2013
Faecal serine proteases (FSPs) may play a role in irritable bowel syndrome with diarrhoea (IBS-D), but their origin is unclear. We aimed to structurally characterise them and define the impact of colonic cleansing and transit time. Faecal samples were obtained from 30 healthy volunteers (HV) and 79 patients with IBS-D ...
Annaházi Anita - - 2013
OBJECTIVES:Luminal serine-proteases lead to increased colonic paracellular permeability and visceral hypersensitivity in patients with diarrhea-predominant irritable bowel syndrome (IBS-D). Other proteases, namely cysteine-proteases (CPs), increase airway permeability by digesting epithelial tight junction proteins. In this study, we focused on constipation-predominant IBS (IBS-C) and we aimed to (i) evaluate CP levels ...
Laudanski Piotr - - 2013
OBJECTIVE: To determine the concentrations of cathepsins B, D and G in proliferative eutopic endometrium of patients with and without endometriosis, by use of the surface plasmon resonance imaging (SPRI) technique. STUDY DESIGN: A total of 55 patients were recruited in the study: 31 patients with endometriosis (stages I-IV) and ...
Park Hyung-Doo - - 2012
Pancreatic ductal adenocarcinoma (PDAC) accounts for 95% of pancreatic cancers. CA19-9 is not widely used for screening PDAC due to its low sensitivity. Here, we studied the clinical usefulness of cathepsin D, matrix metalloproteinases (MMPs), and tissue inhibitors of MMPs (TIMPs) for screening patients with PDAC. A total of 248 ...
Büyüklü Mutlu - - 2012
BACKGROUND: Levosimendan is known with its two-sided effects of strengthening myofibril contraction without increasing myocardial oxygen demand. Anemia is a deteriorating situation that causes increase of drug dosing in patients with heart failure. OBJECTIVES: In this study, we compared the effectiveness of levosimendan treatment in decompensated heart failure patients with ...
Furuta Yasushi - - 2012
To investigate the biological factors related to the onset of Bell's palsy, we sought to identify differentially expressed genes in peripheral blood mononuclear cells (PBMCs) and plasma of patients with Bell's palsy and Ramsay Hunt syndrome (RHS). We carried out DNA microarray analyses using PBMCs taken from patients with Bell's ...
Sutter Reto - - 2012
To compare the alpha-angle measurements in volunteers and patients with femoroacetabular impingement (FAI) and to develop potential threshold values. This study was approved by the institutional review board; all individuals signed informed consent. Magnetic resonance (MR) images at 1.5 T in 106 individuals (ages 20-50 years) were analyzed in 53 ...
Hong L Elliot LE Maryland Psychiatric Research Center, Department of Psychiatry, University of Maryland School of Medicine, Baltimore 21228, USA. - - 2012
Theta-alpha range oscillations have been associated with MMN in healthy controls. Our previous studies showed that theta-alpha activities are highly heritable in schizophrenia patients' families. We aimed to test the hypothesis that theta-alpha activities may contribute to MMN in schizophrenia patients and their family members. We compared MMN and single ...
Schaeffeler Christoph - - 2012
The purpose of the study was to evaluate whether patients with clinically suspected femoroacetabular impingement (FAI) show higher epiphyseal torsion angle values on MR arthrography than healthy volunteers. Another objective was to estimate whether patients with increased epiphyseal torsion angles show a higher incidence of hip abnormalities or a higher ...
Vecchio Fabrizio - - 2012
It has been reported that GSM electromagnetic fields (GSM-EMFs) of mobile phones modulate -after a prolonged exposure- inter-hemispheric synchronization of temporal and frontal resting electroencephalographic (EEG) rhythms in normal young and elderly subjects (Vecchio et al., 2007, 2010). Here we tested the hypothesis that this can be even more evident ...
Abbruzzese Giovanni - - 2012
A patient self-rated 19-item wearing-off questionnaire (WOQ-19) was shown to be a potent screening tool for wearing-off (WO) in patients with Parkinson's disease. As part of the early detection of wearing-off in Parkinson's disease study, we preliminarily performed a linguistic and a psychometric validation of an Italian version of the ...
Ponte Filipa - - 2012
Fanconi Anemia (FA) is a rare genetic disorder, characterized by progressive bone marrow failure and increased predisposition to cancer. Despite being highly heterogeneous, all FA patients are hypersensitive to alkylating agents, in particular to 1,2:3,4-diepoxybutane (DEB), and to oxidative damage. Recent studies point to defective mitochondria in FA cells, which ...
Lehembre Rémy R Cyclotron Research Centre and Neurology Department, University Hospital of Liege, - - 2012
The aim of this study was to look for differences in the power spectra and in EEG connectivity measures between patients in the vegetative state (VS/UWS) and patients in the minimally conscious state (MCS). The EEG of 31 patients was recorded and analyzed. Power spectra were obtained using modern multitaper ...
Rusak Tomasz - - 2011
Polycythemia vera (PV) is associated with an increased frequency of thrombotic complications. This study was undertaken to evaluate the hemostatic balance in the blood of PV patients by means of thromboelastography (TEG). The effect of isovolemic erythrocytapheresis (ECP) on the hemostasis of PV patients was also studied. We assessed the ...
Fingelkurts Alexander A - - 2011
The value of resting electroencephalogram (EEG) in revealing neural constitutes of consciousness (NCC) was examined. We quantified the dynamic repertoire, duration and oscillatory type of EEG microstates in eyes-closed rest in relation to the degree of expression of clinical self-consciousness. For NCC a model was suggested that contrasted normal, severely ...
Modzelewski Romain - - 2011
High-dose (HD) cytosine arabinoside (ara-C) is a major treatment in acute myeloblastic leukemia (AML) that can lead to cerebellar complications, although electroencephalogram, computed tomography, and magnetic resonance imaging remain normal. We conducted a prospective study to evaluate brain perfusion with single-photon emission computed tomography (SPECT) in adult patients before and ...
Giaginis Constantinos - - 2011
Peroxisome proliferator-activated receptor-gamma (PPAR-gamma) and its nuclear partners, the Retinoid X Receptors (RXRs), have been recognized as crucial players in the pathogenesis of atherosclerosis. The present study aimed to assess the clinical significance of PPAR-gamma and RXR-alpha expression in different cellular populations localized within advanced carotid atherosclerosis lesions. PPAR-gamma and ...
Lin Yow-Sien - - 2011
Huntington disease (HD) is a degenerative disorder caused by expanded CAG repeats in exon 1 of the huntingtin gene (HTT). Patients with late-stage HD are known to have abnormal auditory processing, but the peripheral auditory functions of HD patients have yet to be thoroughly assessed. In this study, 19 HD ...
Wasay Mohammad - - 2011
The objective of this study was to evaluate the prognostic significance of neurological manifestations in falciparum malaria. We analyzed adult patients with malaria admitted from 2001 to 2003, diagnosed by asexual forms of Plasmodium falciparum in peripheral blood films and identified cases of malaria with neurological involvement. A patient was ...
de Jager Corine M - - 2010
OBJECTIVE:: To report the case of a 48-year female with chronic remitting anorexia nervosa who was found comatose at home and admitted to our hospital with a deep hypoglycemia (glucose level 0.6 mmol/L; 11 mg/dL) and septic shock secondary to a bilateral pneumonia. METHOD:: Case report. RESULTS:: After admission to ...
Dervaux Alain - - 2013
Psychomotor performance has consistently been found to be altered in chronic cannabis users. Neurological soft signs (NSS) reflect neurological dysfunction involving integrative networks, especially those involving the cerebellum, where cannabinoid receptors are particularly concentrated. Our objective was to study, for the first time, NSS in a group of patients with ...
Kavakli Havva Sahin HS Department of Emergency Medicine, Ankara Ataturk Training and Research Hospital, Ankara, Turkey. - - 2011
Carbon monoxide poisoning (COP) is one of the important causes of morbidity and mortality in toxicological cases. In this study, we aimed to find out more about the pathophysiology of COP by investigating the effects of COP on oxidative stress parameters such as total oxidant status (TOS) and total antioxidant ...
Panagiotakaki Eleni - - 2010
Alternating hemiplegia of childhood is a neurological disorder characterized by episodes of hemiplegia, various non-epileptic paroxysmal events and global neurological impairment. Characterization of the evolution and outcome into adulthood has not been sufficiently investigated. The goal of this study was to elucidate the natural history of alternating hemiplegia within a ...
Kumaran Anitha - - 2010
Hyperinsulinemic hypoglycemia (HH) is a cause of severe hypoglycemia in the newborn and infancy period and is associated with a high risk of neurologic handicap and epilepsy. Infantile spasms after exposure to HH is rare and has been described in only 1 previous report. We report the clinical, biochemical, and ...
Grünert Sarah Catharina - - 2011
Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs. We report on a cblC patient diagnosed in the newborn age who developed nearly normal during the first year of life. During an upper respiratory ...
Broccoletti T - - 2011
Background:  Ataxia-telangiectasia (A-T) is a non-curable neurodegenerative disorder, associated with progressive neurological dysfunction, oculocutaneous telangiectasia, immunodeficiency, predisposition to cancer and radiosensitivity. A recent study documented improvement in neurological symptoms after a short-term therapy with betamethasone in patients with A-T. Aim of this study was to evaluate the minimum therapeutically effective ...
Behari Sanjay - - 2010
Localized intervertebral disc and ligamentous ossification may precipitate neurological deficits at any time during the natural course of ankylosing spondylitis (AS). We report 2 patients with AS with "moustache' sign (localized intervertebral disc fibrosis and panligamentous ossification) and neurological deficits. One patient had syndesmophytosis (with paraparesis secondary to thoracic spinal ...
Pittock Sean J SJ Mayo Medical School College of Medicine, Mayo Clinic, Rochester, MN 55905, USA. - - 2010
Opsoclonus-myoclonus syndrome and breast carcinoma were initially described as neurologic and oncologic accompaniments of antineuronal nuclear autoantibody type 2 (ANNA-2, also known as anti-Ri). However, the neurologic spectrum of ANNA-2 autoimmunity is broader, includes a syndrome of jaw dystonia and laryngospasm, and can be accompanied by lung carcinoma. To describe ...
de Guise Elaine - - 2010
To compare the acute clinical profile of patients with uncomplicated vs complicated mild TBI (MTBI), socio-demographic and medical history variables were gathered for 176 patients diagnosed with MTBI and with (complicated, N = 45) or without (uncomplicated, N = 131) positive findings on cerebral imaging. Neurological examination, neuropsychological assessment and ...
Sorimachi Takatoshi - - 2010
The frequency and causes of neurological change that occurs in patients within 24 hours after the onset of intracerebral hemorrhage (ICH), as well as their relationship to outcome, have seldom been reported. This study evaluated 184 patients with supratentorial ICH and neurological deterioration or improvement; measuring their level of consciousness ...
Feng Yan-qing - - 2010
There are no specific treatments for patients with acute, severe neurological deficits caused by neuromyelitis optica (NMO) who fail to recover after treatment with high-dose corticosteroids. We evaluated the clinical response of anti-tuberculosis treatment (ATT) in patients suffering from steroid-refractory NMO, and investigated the correlation between NMO and tuberculous infection ...
Miller Thomas D - - 2010
Essential thrombocythaemia is one of the chronic myeloproliferative neoplasms and is characterised by a sustained platelet count > or = 450 x 10(9)/l. The clinical course is often indolent but a significant number of patients have thrombotic and haemorrhagic complications. A patient with neurological complications is described, and the pathogenesis ...
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