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Clinical disease

Dayle Terrington, Conal Hayton, Adam M Peel, Stephen J Fowler, William Fraser, Andrew M Wilson

 Introduction: Sarcoidosis is a chronic granulomatous disease of unknown aetiology with a variable clinical course and prognosis. There is a growing need to identify non-invasive biomarkers to differentiate between clinical phenotypes, identify those at risk of disease progression and monitor response to treatment. 
 Objectives: We undertook a systematic review and meta-analysis, to evaluate the utility of breath-based biomarkers in discriminating sarcoidosis from healthy controls, alongside correlation with existing non-breath based biomarkers used in clinical practice, radiological stage, markers of disease activity and response to treatment...
March 22, 2019: Journal of Breath Research
Qing Wang, Yong Wang, Jingxia Liu, Courtney L Sutphen, Carlos Cruchaga, Tyler Blazey, Brian A Gordon, Yi Su, Charlie Chen, Joshua S Shimony, Beau M Ances, Nigel J Cairns, Anne M Fagan, John C Morris, Tammie L S Benzinger
Interest in understanding the roles of white matter (WM) inflammation and damage in the pathophysiology of Alzheimer disease (AD) has been growing significantly in recent years. However, in vivo magnetic resonance imaging (MRI) techniques for imaging inflammation are still lacking. An advanced diffusion-based MRI method, neuro-inflammation imaging (NII), has been developed to clinically image and quantify WM inflammation and damage in AD. Here, we employed NII measures in conjunction with cerebrospinal fluid (CSF) biomarker classification (for β-amyloid (Aβ) and neurodegeneration) to evaluate 200 participants in an ongoing study of memory and aging...
March 13, 2019: NeuroImage: Clinical
D Doesburg, A Vennegoor, B M J Uitdehaag, B W van Oosten
BACKGROUND: Multiple sclerosis (MS) is associated with high rates of disability pension and work absence. Little is known about work absence in early MS. The objectives of this study were (1) to assess the prevalence of work absence shortly after MS diagnosis, (2) to explore health-related quality of life (HRQoL) and disease impact in relation to work absence and (3) to investigate demographic and clinical factors that may be associated with high work absence. METHODS: Patients with relapsing remitting (RRMS) or primary progressive MS (PPMS) were included shortly after MS diagnosis...
March 16, 2019: Multiple Sclerosis and related Disorders
Ban-Yu Saitoh, Ryo Yamasaki, Akio Hiwatashi, Takuya Matsushita, Shintaro Hayashi, Yoshihiro Mitsunaga, Yasuhiro Maeda, Noriko Isobe, Kunihiro Yoshida, Shu-Ichi Ikeda, Jun-Ichi Kira
BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant white matter disease, typically characterized by juvenile cognitive decline and frontoparietal white matter lesions. A portion of HDLS patients exhibit preferential motor dysfunctions as their initial symptoms, mimicking multiple sclerosis (MS). However, there is no study comparing this phenotype of HDLS and primary progressive multiple sclerosis (PPMS), which greatly resemble each other...
March 12, 2019: Multiple Sclerosis and related Disorders
Daphne J Geerse, Melvyn Roerdink, Johan Marinus, Jacobus J van Hilten
BACKGROUND: Most falls occur during walking and are due to trips, slips or misplaced steps, which suggests a reduced walking adaptability. The objective of this study was to evaluate the potential merit of a walking-adaptability assessment for identifying prospective fallers and risk factors for future falls in a cohort of stroke patients, Parkinson's disease patients, and controls (n = 30 for each group). RESEARCH QUESTION: Does an assessment of walking-adaptability improve the identification of fallers compared to generic fall-risk factors alone? METHODS: This study comprised an evaluation of subject characteristics, clinical gait and balance tests, a quantitative gait assessment and a walking-adaptability assessment with the Interactive Walkway...
February 20, 2019: Gait & Posture
Bahareh Abdi, Richard C Hendriks, Alle-Jan van der Veen, Natasja M S de Groot
Finding the hidden parameters of the cardiac electrophysiological model would help to gain more insight on the mechanisms underlying atrial fibrillation, and subsequently, facilitate the diagnosis and treatment of the disease in later stages. In this work, we aim to estimate tissue conductivity from recorded electrograms as an indication of tissue (mal)functioning. To do so, we first develop a simple but effective forward model to replace the computationally intensive reaction-diffusion equations governing the electrical propagation in tissue...
February 21, 2019: Computers in Biology and Medicine
Thaís Dos Reis Vilela, Marina Monzani da Rocha, Neliana Buzi Figlie, Jair de Jesus Mari
BACKGROUND: Children exposed to substance use in their families are vulnerable to multiple risk factors in their development and at increased risk for emotional and behavioral problems. The aims of the study were as follows 1) estimate the prevalence of emotional and behavioral problems among children aged 6-11 years old, living with addicted family members in a low-income urban community of São Paulo, Southeastern Brazil; 2) evaluate the children's exposure to family psychosocial stressors and substance use; and 3) investigate the factors related to the increased risk of emotional and behavioral problems and substance use...
March 19, 2019: Child Abuse & Neglect
Yasser Mahdavi, Rainer Surges, Omid Nikoubashman, Karmele Olaciregui Dague, Jörg C Brokmann, Klaus Willmes, Martin Wiesmann, Jörg B Schulz, Oliver Matz
INTRODUCTION: Data on the frequency and clinical relevance of neurogenic pulmonary edema (NPE) following epileptic seizures are limited. The aim of the present study was to analyze computed tomography (CT) examinations in patients with previous seizures. METHOD: Incidence of NPE and related clinical factors were retrospectively assessed in patients admitted because of epileptic seizures who underwent thoracic CT imaging as part of emergency diagnostics. RESULTS: Between January 2010 and January 2016, we included all patients admitted with the International Classification of Diseases (ICD) diagnosis code of epileptic seizure or epilepsy and who underwent CT imaging, including visualization of the lungs, as part of emergency diagnostics...
March 19, 2019: Epilepsy & Behavior: E&B
Marie-Michèle Briand, Xavier Rodrigue, Isabelle Lessard, Jean Mathieu, Bernard Brais, Isabelle Côté, Cynthia Gagnon
BACKGROUND AND PURPOSE: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal involvement, and 3) axonal neuropathy. This study aimed to explore, among a cohort of adults with ARSACS, the prevalence of other signs and symptoms than those commonly describe in this disease and compare their prevalence between younger (<40 years) and older (≥40 years) participants. METHODS: A clinical interview based on a standardized questionnaire was conducted...
March 12, 2019: Journal of the Neurological Sciences
Jonah Fox, Shaun Ajinkya, Peter Houston, Scott Lindhorst, David Cachia, Adriana Olar, Ekrem Kutluay
OBJECTIVE: Primary central nervous system (CNS) lymphoma (PCNSL) is a rare, aggressive, yet highly chemosensitive form of non-Hodgkin lymphoma which is associated with significant morbidity. Very little is known about the long-term risk for and features of seizures associated with this condition. METHODS: We performed a retrospective and longitudinal analysis of 36 patients with pathologically and radiographically confirmed primary CNS lymphoma to evaluate the incidence, prevalence and features associated with seizures...
March 14, 2019: Journal of the Neurological Sciences
Tuuli Lappalainen, Alexandra J Scott, Margot Brandt, Ira M Hall
Affordable genome sequencing technologies promise to revolutionize the field of human genetics by enabling comprehensive studies that interrogate all classes of genome variation, genome-wide, across the entire allele frequency spectrum. Ongoing projects worldwide are sequencing many thousands-and soon millions-of human genomes as part of various gene mapping studies, biobanking efforts, and clinical programs. However, while genome sequencing data production has become routine, genome analysis and interpretation remain challenging endeavors with many limitations and caveats...
March 21, 2019: Cell
Kym M Boycott, Taila Hartley, Leslie G Biesecker, Richard A Gibbs, A Micheil Innes, Olaf Riess, John Belmont, Sally L Dunwoodie, Nebojsa Jojic, Timo Lassmann, Deborah Mackay, I Karen Temple, Axel Visel, Gareth Baynam
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
March 21, 2019: Cell
Kiran Musunuru, Sekar Kathiresan
Coronary artery disease represents the leading cause of death worldwide, sparing no nation, ethnicity, or economic stratum. Coronary artery disease is partly heritable. While enormous effort has been devoted to understanding the genetic basis of coronary artery disease and other common, complex cardiovascular diseases, key challenges have emerged in gene discovery, in understanding how DNA variants connect to function, and in translation of genetics to the clinic. We discuss these challenges as well as promising opportunities to bring the work closer to fruition...
March 21, 2019: Cell
Federica Defendi, Paolo Malvezzi, Farsad Eskandary, Jean-Yves Cesbron, Lionel Rostaing, Georg A Böhmig, Chantal Dumestre-Pérard
The complement system has been implicated in several kidney diseases, such as antibody-mediated rejection after kidney transplantation. Antibody-depletion techniques allow successful ABO- and/or HLA-incompatible transplantation. Considering the IgG removal, the use of semi-selective immunoadsorption (IA) has been advocated. However, because of results on incomplete IgM depletion, the adjunctive use of membrane filtration (MF) has been proposed to enhance the removal of macromolecules and to interfere with complement activation...
March 22, 2019: Transplant International: Official Journal of the European Society for Organ Transplantation
Alberto J Espay, Jeffrey M Hausdorff, Álvaro Sánchez-Ferro, Jochen Klucken, Aristide Merola, Paolo Bonato, Serene S Paul, Fay B Horak, Joaquin A Vizcarra, Tiago A Mestre, Ralf Reilmann, Alice Nieuwboer, E Ray Dorsey, Lynn Rochester, Bastiaan R Bloem, Walter Maetzler
Obtaining reliable longitudinal information about everyday functioning from individuals with Parkinson's disease (PD) in natural environments is critical for clinical care and research. Despite advances in mobile health technologies, the implementation of digital outcome measures is hindered by a lack of consensus on the type and scope of measures, the most appropriate approach for data capture (eg, in clinic or at home), and the extraction of timely information that meets the needs of patients, clinicians, caregivers, and health care regulators...
March 22, 2019: Movement Disorders: Official Journal of the Movement Disorder Society
T Rune Nielsen, Kurt Segers, Valérie Vanderaspoilden, Ulrike Beinhoff, Lennart Minthon, Anna Pissiota, Peter Bekkhus-Wetterberg, Guro Hanevold Bjørkløf, Magda Tsolaki, Mara Gkioka, Gunhild Waldemar
BACKGROUND: The aims of this study were to present the psychometric properties of a newly designed cognitive screening instrument, the Multicultural Cognitive Examination (MCE), and to compare it with the Rowland Universal Dementia Assessment Scale (RUDAS in a multicultural population. METHODS: The study was a Western European cross-sectional multi-center study. The MCE consists of four components evaluating separate cognitive functions and was constructed by adding measures of memory, verbal fluency, and visuospatial function to the RUDAS to create a scale with 0-100 points...
March 22, 2019: International Journal of Geriatric Psychiatry
Joaquin A Vizcarra, Álvaro Sánchez-Ferro, Walter Maetzler, Luca Marsili, Lucia Zavala, Anthony E Lang, Pablo Martinez-Martin, Tiago A Mestre, Ralf Reilmann, Jeffrey M Hausdorff, E Ray Dorsey, Serene S Paul, Judith W Dexheimer, Benjamin D Wissel, Rebecca L M Fuller, Paolo Bonato, Ai Huey Tan, Bastiaan R Bloem, Catherine Kopil, Margaret Daeschler, Lauren Bataille, Galit Kleiner, Jesse M Cedarbaum, Jochen Klucken, Aristide Merola, Christopher G Goetz, Glenn T Stebbins, Alberto J Espay
No abstract text is available yet for this article.
March 22, 2019: Movement Disorders: Official Journal of the Movement Disorder Society
Alexandra G Raftery, Saloum Jallow, Jean Rodgers, David G M Sutton
BACKGROUND: Globally, working equines have a continued and growing socioeconomic role in supporting the livelihoods of between 300-600 million people in low income countries which is rarely recognised at a national or international level. Infectious diseases have significant impact on welfare and productivity in this population and equine trypanosomiasis is a priority disease due to its severity and prevalence. Strategies are required to improve the prevention, diagnosis, management and treatment of trypanosomiasis in equines and more data are required on the efficacy and safety of current trypanocidal drugs...
March 22, 2019: PLoS Neglected Tropical Diseases
Brigitte Tampin, Rachel Elizabeth Broe, Lee Lee Seow, Shushana Gijohn George, Jiajie Tan, Rajiv Menon, Angela Jacques, Helen Slater
Background and aims In 2008, the International Association for the Study of Pain Special Interest Group on Neuropathic Pain (NeuPSIG) proposed a clinical grading system to help identify patients with neuropathic pain (NeP). We previously applied this classification system, along with two NeP screening tools, the painDETECT (PD-Q) and Leeds Assessment of Neuropathic Symptoms and Signs pain scale (LANSS), to identify NeP in patients with neck/upper limb pain. Both screening tools failed to identify a large proportion of patients with clinically classified NeP, however a limitation of our study was the use of a single clinician performing the NeP classification...
March 22, 2019: Scandinavian Journal of Pain
Larisa Pinte, Daniel Vasile Balaban, Cristian Băicuș, Mariana Jinga
Obesity is a growing health burden worldwide, increasing the risk for several diseases featuring the metabolic syndrome - type 2 diabetes mellitus, dyslipidemia, non-alcoholic fatty liver disease and cardiovascular diseases. With the increasing epidemic of obesity, a new pathologic condition has emerged as a component of the metabolic syndrome - that of non-alcoholic fatty pancreas disease (NAFPD). Similar to non-alcoholic fatty liver disease (NAFLD), NAFPD comprises a wide spectrum of disease - from deposition of fat in the pancreas -fatty pancreas, to pancreatic inflammation and possibly pancreatic fibrosis...
January 1, 2019: Romanian Journal of Internal Medicine
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