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Wilson's and related disorders

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https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#1
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28487642/resting-state-neurophysiological-abnormalities-in-posttraumatic-stress-disorder-a-magnetoencephalography-study
#2
Amy S Badura-Brack, Elizabeth Heinrichs-Graham, Timothy J McDermott, Katherine M Becker, Tara J Ryan, Maya M Khanna, Tony W Wilson
Posttraumatic stress disorder (PTSD) is a debilitating psychiatric condition that is common in veterans returning from combat operations. While the symptoms of PTSD have been extensively characterized, the neural mechanisms that underlie PTSD are only vaguely understood. In this study, we examined the neurophysiology of PTSD using magnetoencephalography (MEG) in a sample of veterans with and without PTSD. Our primary hypothesis was that veterans with PTSD would exhibit aberrant activity across multiple brain networks, especially those involving medial temporal and frontal regions...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28478767/veterans-with-post-traumatic-stress-disorder-exhibit-altered-emotional-processing-and-attentional-control-during-an-emotional-stroop-task
#3
M M Khanna, A S Badura-Brack, T J McDermott, C M Embury, A I Wiesman, A Shepherd, T J Ryan, E Heinrichs-Graham, T W Wilson
BACKGROUND: Post-traumatic stress disorder (PTSD) is often associated with attention allocation and emotional regulation difficulties, but the brain dynamics underlying these deficits are unknown. The emotional Stroop task (EST) is an ideal means to monitor these difficulties, because participants are asked to attend to non-emotional aspects of the stimuli. In this study, we used magnetoencephalography (MEG) and the EST to monitor attention allocation and emotional regulation during the processing of emotionally charged stimuli in combat veterans with and without PTSD...
May 8, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28455276/therapist-supported-internet-based-cognitive-behavior-therapy-for-stress-anxiety-and-depressive-symptoms-among-postpartum-women-a-systematic-review-and-meta-analysis
#4
Ying Lau, Tha Pyai Htun, Suei Nee Wong, Wai San Wilson Tam, Piyanee Klainin-Yobas
BACKGROUND: A growing number of meta-analyses have supported the application of therapist-supported Internet-based cognitive behavior therapy (iCBT) for psychological disorders across different populations, but relatively few meta-analyses have concentrated on postpartum women. OBJECTIVE: This meta-analysis evaluated the efficacy of therapist-supported iCBT in improving stress, anxiety, and depressive symptoms among postpartum women. METHODS: A total of 10 electronic databases were used to search for published and unpublished trials...
April 28, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#5
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28407747/antipsychotic-prescribing-for-vulnerable-populations-a-clinical-audit-at-an-acute-australian-mental-health-unit-at-two-time-points
#6
Sara S McMillan, Sara Jacobs, Louise Wilson, Theo Theodoros, Gail Robinson, Claire Anderson, Gabor Mihala, Amanda J Wheeler
BACKGROUND: Antipsychotics are recognised as a critical intervention for schizophrenia and bipolar disorder. Guidelines globally endorse the routine practice of antipsychotic monotherapy, at the minimum effective dose. Even in treatment-resistant schizophrenia, clozapine use is endorsed before combining antipsychotics. This aim of this study was to review antipsychotic polytherapy alone, high-dose therapy alone, polytherapy and high-dose prescribing patterns in adults discharged from an inpatient mental health unit at two time-points, and the alignment of this prescribing with clinical guideline recommendations...
April 13, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28396410/spinal-motor-neuron-protein-supersaturation-patterns-are-associated-with-inclusion-body-formation-in-als
#7
Prajwal Ciryam, Isabella A Lambert-Smith, Daniel M Bean, Rosie Freer, Fernando Cid, Gian Gaetano Tartaglia, Darren N Saunders, Mark R Wilson, Stephen G Oliver, Richard I Morimoto, Christopher M Dobson, Michele Vendruscolo, Giorgio Favrin, Justin J Yerbury
Amyotrophic lateral sclerosis (ALS) is a heterogeneous degenerative motor neuron disease linked to numerous genetic mutations in apparently unrelated proteins. These proteins, including SOD1, TDP-43, and FUS, are highly aggregation-prone and form a variety of intracellular inclusion bodies that are characteristic of different neuropathological subtypes of the disease. Contained within these inclusions are a variety of proteins that do not share obvious characteristics other than coaggregation. However, recent evidence from other neurodegenerative disorders suggests that disease-affected biochemical pathways can be characterized by the presence of proteins that are supersaturated, with cellular concentrations significantly greater than their solubilities...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28396251/gene-expression-profiling-of-bone-marrow-mesenchymal-stem-cells-from-osteogenesis-imperfecta-patients-during-osteoblast-differentiation
#8
Carla Martins Kaneto, Patrícia S Pereira Lima, Karen Lima Prata, Jane Lima Dos Santos, João Monteiro de Pina Neto, Rodrigo Alexandre Panepucci, Houtan Noushmehr, Dimas Tadeu Covas, Francisco José Alburquerque de Paula, Wilson Araújo Silva
Mesenchymal stem cells (MSCs) are precursors present in adult bone marrow that are able to differentiate into osteoblasts, adipocytes and chondroblasts that have gained great importance as a source for cell therapy. Recently, a number of studies involving the analysis of gene expression of undifferentiated MSCs and of MSCs in the differentiation into multiple lineage processes were observed but there is no information concerning the gene expression of MSCs from Osteogenesis Imperfecta (OI) patients. Osteogenesis Imperfecta is characterized as a genetic disorder in which a generalized osteopenia leads to excessive bone fragility and severe bone deformities...
June 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28382118/evaluation-of-the-prevalence-of-maxillary-sinuses-abnormalities-through-spiral-computed-tomography-ct
#9
João Paulo Nunes Drumond, Bruna Bianca Allegro, Neil Ferreira Novo, Sérgio Luís de Miranda, Wilson Roberto Sendyk
Introduction Maxillary sinus disease is common and numerous disorders can affect this anatomical area. Abnormalities can be classified as: non-neoplastic, neoplastic benign, and neoplastic malignant. Objective Evaluate through CT the prevalence of diseases in maxillary sinuses, using the Radiology Department's database of a hospital in São Paulo city. Methods The sample consisted of 762 facial CT scans that we divided into three groups: Group A (12-19 years old); Group B (20-49 years old); Group C (above 50 years old); and male or female...
April 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28374654/problematic-alcohol-use-and-reduced-hippocampal-volume-a-meta-analytic-review
#10
S Wilson, J L Bair, K M Thomas, W G Iacono
BACKGROUND: A number of studies reports reduced hippocampal volume in individuals who engage in problematic alcohol use. However, the magnitude of the difference in hippocampal volume between individuals with v. without problematic alcohol use has varied widely, and there have been null findings. Moreover, the studies comprise diverse alcohol use constructs and samples, including clinically significant alcohol use disorders and subclinical but problematic alcohol use (e.g. binge drinking), adults and adolescents, and males and females...
April 4, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28370486/clinical-presentation-and-outcomes-of-patients-with-type-1-monoclonal-cryoglobulinemia
#11
Surbhi Sidana, S Vincent Rajkumar, Angela Dispenzieri, Martha Q Lacy, Morie A Gertz, Francis K Buadi, Suzanne R Hayman, David Dingli, Prashant Kapoor, Wilson I Gonsalves, Ronald S Go, Yi Lisa Hwa, Nelson Leung, Amie L Fonder, Miriam A Hobbs, Steven R Zeldenrust, Stephen J Russell, John A Lust, Robert A Kyle, Shaji K Kumar
We describe a series of 102 patients diagnosed from January 1, 1990 to December 31, 2015 with Type 1 monoclonal cryoglobulinemia (MoC). Symptoms were seen in 89 (87%) patients, including: cutaneous symptoms in 64 (63%) patients, with purpura (n=43, 42%) and ulcers/gangrene (n=35, 34%) being most common; neurological findings in 33 (32%) patients, most frequently sensory neuropathy (n=24, 24%); vasomotor symptoms, mainly Raynaud's phenomenon in 25 (25%); arthralgias in 24 (24%); and renal manifestations, primarily glomerulonephritis in 14 (14%) patients...
March 29, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28360221/nfat5-and-slc4a10-loci-associate-with-plasma-osmolality
#12
Carsten A Böger, Mathias Gorski, Gearoid M McMahon, Huichun Xu, Yen-Pei C Chang, Peter J van der Most, Gerjan Navis, Ilja M Nolte, Martin H de Borst, Weihua Zhang, Benjamin Lehne, Marie Loh, Sian-Tsung Tan, Eric Boerwinkle, Morgan E Grams, Peggy Sekula, Man Li, Beth Wilmot, James G Moon, Paul Scheet, Francesco Cucca, Xiangjun Xiao, Leo-Pekka Lyytikäinen, Graciela Delgado, Tanja B Grammer, Marcus E Kleber, Sanaz Sedaghat, Fernando Rivadeneira, Tanguy Corre, Zoltan Kutalik, Sven Bergmann, Carrie M Nielson, Priya Srikanth, Alexander Teumer, Martina Müller-Nurasyid, Anne Catharina Brockhaus, Arne Pfeufer, Wolfgang Rathmann, Annette Peters, Martha Matsumoto, Mariza de Andrade, Elizabeth J Atkinson, Cassianne Robinson-Cohen, Ian H de Boer, Shih-Jen Hwang, Iris M Heid, Martin Gögele, Maria Pina Concas, Toshiko Tanaka, Stefania Bandinelli, Mike A Nalls, Andrew Singleton, Salman M Tajuddin, Adebowale Adeyemo, Jie Zhou, Ayo Doumatey, Shannon McWeeney, Joanne Murabito, Nora Franceschini, Michael Flessner, Michael Shlipak, James G Wilson, Guanjie Chen, Charles N Rotimi, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Olivier Devuyst, Mario Pirastu, Alan Shuldiner, Andrew A Hicks, Peter Paul Pramstaller, Bryan Kestenbaum, Sharon L R Kardia, Stephen T Turner, LifeLines Cohort Study, Tamara Ellefson Briske, Christian Gieger, Konstantin Strauch, Christa Meisinger, Thomas Meitinger, Uwe Völker, Matthias Nauck, Henry Völzke, Peter Vollenweider, Murielle Bochud, Gerard Waeber, Mika Kähönen, Terho Lehtimäki, Winfried März, Abbas Dehghan, Oscar H Franco, Andre G Uitterlinden, Albert Hofman, Herman A Taylor, John C Chambers, Jaspal S Kooner, Caroline S Fox, Robert Hitzemann, Eric S Orwoll, Cristian Pattaro, David Schlessinger, Anna Köttgen, Harold Snieder, Afshin Parsa, David M Cohen
Disorders of water balance, an excess or deficit of total body water relative to body electrolyte content, are common and ascertained by plasma hypo- or hypernatremia, respectively. We performed a two-stage genome-wide association study meta-analysis on plasma sodium concentration in 45,889 individuals of European descent (stage 1 discovery) and 17,637 additional individuals of European descent (stage 2 replication), and a transethnic meta-analysis of replicated single-nucleotide polymorphisms in 79,506 individuals (63,526 individuals of European descent, 8765 individuals of Asian Indian descent, and 7215 individuals of African descent)...
March 30, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28358980/pharmacological-interventions-for-non-alcohol-related-fatty-liver-disease-nafld-an-attempted-network-meta-analysis
#13
REVIEW
Rosa Lombardi, Simona Onali, Douglas Thorburn, Brian R Davidson, Kurinchi Selvan Gurusamy, Emmanuel Tsochatzis
BACKGROUND: Non-alcohol related fatty liver disease (commonly called non-alcoholic fatty liver disease (NAFLD)) is liver steatosis in the absence of significant alcohol consumption, use of hepatotoxic medication, or other disorders affecting the liver such as hepatitis C virus infection, Wilson's disease, and starvation. NAFLD embraces the full spectrum of disease from pure steatosis (i.e. uncomplicated fatty liver) to non-alcoholic steatohepatitis (NASH), via NASH-cirrhosis to cirrhosis...
March 30, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28344067/upregulation-of-orexin-hypocretin-expression-in-aged-rats-effects-on-feeding-latency-and-neurotransmission-in-the-insular-cortex
#14
Janel M Hagar, Victoria A Macht, Steven P Wilson, James R Fadel
Aging is associated with changes in numerous homeostatic functions, such as food intake, that are thought to be mediated by the hypothalamus. Orexin/hypocretin neurons of the hypothalamus regulate several physiological functions, including feeding, sleep and wakefulness. Evidence from both clinical and animal studies supports the notion that aging is associated with loss or dysregulation of the orexin system. Here, we used virus-mediated gene transfer to manipulate expression of orexin peptides in young and aged rats and examined behavioral and neurochemical correlates of food intake in these animals...
March 24, 2017: Neuroscience
https://www.readbyqxmd.com/read/28340108/cigarette-smoking-and-musculoskeletal-pain-severity-among-male-and-female-afghanistan-iraq-era-veterans
#15
Kimberly T Green, Sarah M Wilson, Paul A Dennis, Jennifer J Runnals, Rebecca A Williams, Lori A Bastian, Jean C Beckham, Eric A Dedert, Harold S Kudler, Kristy Straits-Tröster, Jennifer M Gierisch, Patrick S Calhoun
Objective.:  Cigarette smoking and musculoskeletal pain are prevalent among Department of Veterans Affairs (VA) health care system users. These conditions frequently co-occur; however, there is limited empirical information specific to Afghanistan/Iraq era veterans. The present study sought to examine gender differences in the association between cigarette smoking and moderate to severe musculoskeletal pain in US veterans with Afghanistan/Iraq era service. Methods.:  A random sample of 5,000 veterans with service after November 11, 2001, participated in a survey assessing health care needs and barriers to care...
March 14, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#16
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28299858/psychoeducation-for-bipolar-disorder-a-discourse-analysis
#17
Lynere Wilson, Marie Crowe, Anne Scott, Cameron Lacey
Psychoeducation has become a common intervention within mental health settings. It aims to increase people's ability to manage a life with a long-term illness. For people with bipolar disorder, psychoeducation is one of a range of psychosocial interventions now considered part of contemporary mental health practice. It has taken on a 'common sense' status that results in little critique of psychoeducation practices. Using a published manual on psychoeducation and bipolar disorder as its data, Foucauldian discourse analysis was used in the present study for a critical perspective on psychoeducation in order to explore the taken-for-granted assumptions on which it is based...
March 16, 2017: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/28295414/temporal-stability-of-heavy-drinking-days-and-drinking-reductions-among-heavy-drinkers-in-the-combine-study
#18
Katie Witkiewitz, Adam D Wilson, Matthew R Pearson, Kevin A Hallgren, Daniel E Falk, Raye Z Litten, Henry R Kranzler, Karl F Mann, Deborah S Hasin, Stephanie S O'Malley, Raymond F Anton
BACKGROUND: Recently, the Food and Drug Administration (FDA) proposed to expand the options for primary end points in the development of medications for alcohol use disorder to include either abstinence from alcohol or a nonabstinent outcome: no heavy drinking days (with a heavy drinking day defined as more than 3 drinks per day for women and more than 4 drinks per day for men [>3/>4 cutoff]). The FDA also suggested that 6 months would be the most appropriate length for a clinical trial to demonstrate the stability of this nonabstinent drinking outcome...
May 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28284465/neurological-disorders-in-liver-transplant-candidates-pathophysiology-and-clinical-assessment
#19
REVIEW
Paolo Feltracco, Annachiara Cagnin, Cristiana Carollo, Stefania Barbieri, Carlo Ori
Compromised liver function, as a consequence of acute liver insufficiency or severe chronic liver disease may be associated with various neurological syndromes, which involve both central and peripheral nervous system. Acute and severe hyperammoniemia inducing cellular metabolic alterations, prolonged state of "neuroinflammation", activation of brain microglia, accumulation of manganese and ammonia, and systemic inflammation are the main causative factors of brain damage in liver failure. The most widely recognized neurological complications of serious hepatocellular failure include hepatic encephalopathy, diffuse cerebral edema, Wilson disease, hepatic myelopathy, acquired hepatocerebral degeneration, cirrhosis-related Parkinsonism and osmotic demyelination syndrome...
February 27, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28271041/the-cortical-signature-of-symptom-laterality-in-parkinson-s-disease
#20
Elizabeth Heinrichs-Graham, Pamela M Santamaria, Howard E Gendelman, Tony W Wilson
Patients with Parkinson's disease (PD) often present with unilateral motor symptoms that eventually spread to the other side. This symptom lateralization is diagnostically important, as it serves to distinguish PD from other motor disorders with overlapping symptom profiles. Further, recent studies have shown that the side of symptom onset is important for prognosis, as there are differences in the rate of disease progression and the incidence of secondary symptoms between right- and left-dominant (RD, LD) patients...
2017: NeuroImage: Clinical
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