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Wilson's and related disorders

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https://www.readbyqxmd.com/read/28634175/interrelations-between-3-hydroxypropionate-and-propionate-metabolism-in-rat-liver-relevance-to-disorders-of-propionyl-coa-metabolism
#1
Kirkland A Wilson, Yong Han, Miaoqi Zhang, Jeremy Hess, Kimberly A Chapman, Gary W Cline, Gregory P Tochtrop, Henri Brunengraber, Guo-Fang Zhang
Propionate, 3-hydroxypropionate (3HP), methylcitrate, related compounds and ammonium accumulate in body fluids of patients with disorders of propionyl-CoA metabolism, such as propionic acidemia. Although liver transplantation alleviates hyperammonemia, high concentrations of propionate, 3HP and methylcitrate persist in body fluids. We hypothesized that conserved metabolic perturbations occurring in transplanted patients result from the simultaneous presence of propionate and 3HP in body fluids. We investigated the interrelations of propionate and 3HP metabolism in perfused livers from normal rats using metabolomic and stable isotopic technologies...
June 20, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28625946/educational-needs-of-epileptologists-regarding-psychiatric-comorbidities-of-the-epilepsies-a-descriptive-quantitative-survey
#2
Marco Mula, Esper Cavalheiro, Alla Guekht, Andres M Kanner, Hyang Woon Lee, Cigdem Ozkara, Alfredo Thomson, Sarah J Wilson
Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy. The Task Force designed a quantitative questionnaire to survey the self-perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills...
June 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28625845/injury-and-defective-regeneration-of-the-epithelial-basement-membrane-in-corneal-fibrosis-a-paradigm-for-fibrosis-in-other-organs
#3
REVIEW
Steven E Wilson, Gustavo K Marino, Andre A M Torricelli, Carla S Medeiros
Myofibroblast-mediated fibrosis is important in the pathophysiology of diseases in most organs. The cornea, the transparent anterior wall of the eye that functions to focus light on the retina, is commonly affected by fibrosis and provides an optimal model due to its simplicity and accessibility. Severe injuries to the cornea, including infection, surgery, and trauma, may trigger the development of myofibroblasts and fibrosis in the normally transparent connective tissue stroma. Ultrastructural studies have demonstrated that defective epithelial basement membrane (EBM) regeneration after injury underlies the development of myofibroblasts from both bone marrow- and keratocyte-derived precursor cells in the cornea...
June 15, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28615158/somatosensory-modulation-of-salivary-gene-expression-and-oral-feeding-in-preterm-infants-randomized-controlled-trial
#4
Steven Michael Barlow, Jill Lamanna Maron, Gil Alterovitz, Dongli Song, Bernard Joseph Wilson, Priya Jegatheesan, Balaji Govindaswami, Jaehoon Lee, Austin Oder Rosner
BACKGROUND: Despite numerous medical advances in the care of at-risk preterm neonates, oral feeding still represents one of the first and most advanced neurological challenges facing this delicate population. Objective, quantitative, and noninvasive assessment tools, as well as neurotherapeutic strategies, are greatly needed in order to improve feeding and developmental outcomes. Pulsed pneumatic orocutaneous stimulation has been shown to improve nonnutritive sucking (NNS) skills in preterm infants who exhibit delayed or disordered nipple feeding behaviors...
June 14, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28587235/flexible-proteins-at-the-origin-of-life
#5
Andrew Pohorille, Michael A Wilson, Gareth Shannon
Almost all modern proteins possess well-defined, relatively rigid scaffolds that provide structural preorganization for desired functions. Such scaffolds require the sufficient length of a polypeptide chain and extensive evolutionary optimization. How ancestral proteins attained functionality, even though they were most likely markedly smaller than their contemporary descendants, remains a major, unresolved question in the origin of life. On the basis of evidence from experiments and computer simulations, we argue that at least some of the earliest water-soluble and membrane proteins were markedly more flexible than their modern counterparts...
June 5, 2017: Life
https://www.readbyqxmd.com/read/28576389/healthcare-utilization-in-adults-with-opioid-dependence-receiving-extended-release-naltrexone-compared-to-treatment-as-usual
#6
William E Soares, Donna Wilson, Niels Rathlev, Joshua D Lee, Michael Gordon, Edward V Nunes, Charles P O'Brien, Peter D Friedmann
BACKGROUND: Opioid use disorders have reached epidemic proportions, with overdose now the leading cause of accidental death in the United States. Extended release naltrexone (XR-NTX) has emerged as a medication treatment that reduces opioid use and craving. However, the effect of XR-NTX therapy on acute healthcare utilization, including emergency department visits and inpatient hospitalizations, remains uncertain. The objective of the current study is to evaluate hospital-based healthcare resource utilization in adults involved in the criminal justice system with a history of opioid use disorder randomized to XR-NTX therapy compared with treatment as usual (TAU) during a 6-month treatment phase and 12months post-treatment follow up...
May 12, 2017: Journal of Substance Abuse Treatment
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
July 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28360221/nfat5-and-slc4a10-loci-associate-with-plasma-osmolality
#18
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
#19
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
#20
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
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