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https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#1
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28078418/absolute-quantification-of-myosin-heavy-chain-isoforms-by-selected-reaction-monitoring-can-underscore-skeletal-muscle-changes-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#2
Caterina Peggion, Maria Lina Massimino, Giancarlo Biancotto, Roberto Angeletti, Carlo Reggiani, Maria Catia Sorgato, Alessandro Bertoli, Roberto Stella
Skeletal muscle fibers contain different isoforms of myosin heavy chain (MyHC) that define distinctive contractile properties. In light of the muscle capacity to adapt MyHC expression to pathophysiological conditions, a rapid and quantitative assessment of MyHC isoforms in small muscle tissue quantities would represent a valuable diagnostic tool for (neuro)muscular diseases. As past protocols did not meet these requirements, in the present study we applied a targeted proteomic approach based on selected reaction monitoring that allowed the absolute quantification of slow and fast MyHC isoforms in different mouse skeletal muscles with high reproducibility...
January 11, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28077650/melanin-or-melanin-like-substance-interacts-with-the-n-terminal-portion-of-prion-protein-and-inhibits-abnormal-prion-protein-formation-in-prion-infected-cells
#3
Taichi Hamanaka, Keiko Nishizawa, Yuji Sakasegawa, Ayumi Oguma, Kenta Teruya, Hiroshi Kurahashi, Hideyuki Hara, Suehiro Sakaguchi, Katsumi Doh-Ura
Prion diseases are progressive fatal neurodegenerative illnesses caused by the accumulation of transmissible abnormal prion protein (PrP). To find treatments for prion diseases, we searched for substances from natural resources that inhibit abnormal PrP formation in prion-infected cells. We found that high-molecular-weight components from insect cuticle extracts reduced abnormal PrP levels. The chemical nature of these components was consistent with that of melanin. In fact, synthetic melanin produced from tyrosine or 3-hydroxy-l-tyrosine inhibited abnormal PrP formation...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28076529/relationships-between-oncohematopediatrics-mothers-and-children-in-communicating-bad-news
#4
Selene Beviláqua Chaves Afonso, Maria Cecília de Souza Minayo
We present a study about the relations between pediatric oncological haematologists, mothers, and children in sharing bad news (BN) in a public hospital in Rio de Janeiro. The text emphasizes the intertwining of technique and emotions for the treatment of children with diagnoses in which the fatal outcome is always a probability. We used a qualitative approach, privileging participant observation and open interviews with oncologists (at this service all professionals were female) and mothers. We sought to understand the importance of communication which includes expressions and control of emotions; bioethical issues that require sensitivity, serenity, and truth about approaching the end of life; and how the professionals balance proximity to children and families and objectivity in their activity...
January 2017: Ciência & Saúde Coletiva
https://www.readbyqxmd.com/read/28074478/ultrastructural-analysis-of-parvalbumin-synapses-in-human-dorsolateral-prefrontal-cortex
#5
Jill R Glausier, Rosalinda C Roberts, David A Lewis
Coordinated activity of neural circuitry in the primate dorsolateral prefrontal cortex (DLPFC) supports a range of cognitive functions. Altered DLPFC activation is implicated in a number of human psychiatric and neurological illnesses. Proper DLPFC activity is, in part, maintained by two populations of neurons containing the calcium-binding protein parvalbumin (PV): local inhibitory interneurons that form Type II synapses, and long-range glutamatergic inputs from the thalamus that form Type I synapses. Understanding the contributions of each PV neuronal population to human DLPFC function requires a detailed examination of their anatomical properties...
January 11, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28073465/-depression-in-relatives-of-patients-with-schizophrenia-8-month-longitudinal-outcome-of-profamille-program
#6
E Valladier, D Willard, L Romo, Y Hodé, Y Morvan
INTRODUCTION: Mental illness such as schizophrenia is a major public health concern. In France, the economic cost of schizophrenia represents 2 % of total medical expenditures. Schizophrenia has an impact on health and quality of life not only for patients but also for relatives. Family psychoeducation is a complementary therapeutic intervention to ordinary clinical care deigned to alleviate the burden of care among relatives of patients with schizophrenia. Literature suggests such programs including the patients' family members reduce the risk of relapse...
January 7, 2017: L'Encéphale
https://www.readbyqxmd.com/read/28064292/caring-for-the-dying-in-a-developing-country-how-prepared-are-we
#7
H S Gendeh, A S Bhar, M K Gendeh, H Yaakup, B S Gendeh, N R Kosai, A R Ramzisham
End of life care is framework to allow for a peaceful, comfortable and dignified death while considering the patients' personal and religious values, bioethics and knowledge of the disease process. A well planned end of life pathway should allow for the flexibility to shift from an active (or aggressive) treatment approach to one of comfort and care when initial interventions have failed. The need for this pathway is most apparent in the intensive care setting. Implementation of a pathway will face various challenges due to religious and cultural beliefs, education of healthcare providers to carry out difficult discussions and larger socioeconomic implications...
October 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28062473/treatment-targeted-at-underlying-disease-versus-palliative-care-in-terminally-ill-patients-a-systematic-review
#8
Tea Reljic, Ambuj Kumar, Farina A Klocksieben, Benjamin Djulbegovic
OBJECTIVE: To assess the efficacy of active treatment targeted at underlying disease (TTD)/potentially curative treatments versus palliative care (PC) in improving overall survival (OS) in terminally ill patients. DESIGN: We performed a systematic review and meta-analysis of randomised controlled trials (RCT). Methodological quality of included RCTs was assessed using the Cochrane risk of bias tool. DATA SOURCES: Medline and Cochrane databases were searched, with no language restriction, from inception to 19 October 2016...
January 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28062338/family-caregiver-participation-in-palliative-care-research-challenging-the-myth
#9
Samar Aoun, Susan Slatyer, Kathleen Deas, Cheryl Nekolaichuk
BACKGROUND: Despite international guidelines emphasizing consumer directed care and autonomous decisions in research participation, there is a common myth that research can be an additional and unwanted burden on patients and their family members. AIM: to examine the experiences and impact of research involvement on family caregivers (FC) of terminally ill people, focusing within home-based palliative care. DESIGN: and participants: 316 of 322 participants (98...
January 3, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28062060/providing-appropriate-end-of-life-care-to-religious-and-ethnic-minorities
#10
REVIEW
Daniel K Partain, Cory Ingram, Jacob J Strand
There is overwhelming evidence that racial and ethnic minorities face multiple health care disparities. Recognizing and addressing cultural and religious/spiritual (RS) values is a critical aspect of providing goal-concordant care for patients facing a serious illness, especially at the end of life. Failure to address a patient's cultural and RS needs can lead to diminished quality of care and worse health outcomes. Given the multitude of cultural and RS values, we believe that a framework of cultural and RS curiosity along with a willingness to engage patients in discussions about these elements of their care within an interdisciplinary team should be the goal of all providers who are discussing goals, preferences, and values with patients facing advanced terminal illness...
January 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28057167/moderate-dose-regular-lifelong-alcohol-intake-changes-the-intestinal-flora-protects-against-aging-and-keeps-spatial-memory-in-the-senescence-accelerated-mouse-prone-8-samp8-model
#11
Chikako Shimizu, Yasuhiro Oki, Yutaka Mitani, Youichi Tsuchiya, Toshitaka Nabeshima
PURPOSE: Heavy and long-term alcohol consumption increase the risk of alcohol-related diseases. Epidemiological studies show moderate drinking reduces the risk of mortality, cardiovascular diseases, and brain infarction in the J-shaped or U-shaped curve effect. However, why moderate drinkers may be healthy and non-drinkers may be ill in diverse populations remains controversial. Herein, we examined the relationship between moderate/lifelong alcohol intake and aging, especially aging-related cognitive functions in senescence-accelerated mouse prone 8 (SAMP8) model...
October 2016: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28056515/race-ethnicity-as-a-predictor-for-location-of-death-in-patients-with-acute-neurovascular-events
#12
Say Salomon, Elizabeth Chuang, Deepa Bhupali, Daniel Labovitz
BACKGROUND: Site of death is an important quality indicator for patients with terminal illness. Racial and ethnic disparities exist in the quality of end-of-life care. This study explores the site of death of patients admitted for and dying of complications of acute neurovascular events in a hospital network in an urban, low-income, predominantly minority community. METHODS: This is a retrospective cohort study of patients admitted to 1 of 3 general hospitals that are part of an academic medical center in Bronx, New York, with the diagnosis of acute ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage who died during the index admission or were discharged with hospice services...
January 1, 2017: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/28056185/a-trial-of-concurrent-care-shedding-light-on-the-gray-zone
#13
Annemarie Hargadon, Quy Tran, Karen Stephen, Howard Homler
BACKGROUND: Patients are hospice eligible when they have an estimated prognosis of 6 months and the readiness to forgo attempts at disease-modifying treatments related to their terminal illness. The decision to enroll in hospice is relatively clear when the prognosis is based on an incurable illness for which there are no further life-prolonging therapies. However, when the prognosis is based on a serious chronic illness for which possible interventions remain but must be forgone to access hospice support, the decision process is more complex...
February 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28043807/on-the-ground-floor-looking-up-managing-trainees-uncertainty-at-the-end-of-life
#14
Ravi B Parikh, Dhruv Khullar
Recent US healthcare policy changes set the stage for integrating palliative and end-of-life care into routine medicine. However, these changes may not affect the daily practice of medical trainees-fellows, residents, and medical students-who as front-line care providers are not always equipped with the skills needed to treat terminally ill patients. We review evidence on trainees' discomfort with end-of-life care and highlight limitations of recent policy changes. Key barriers to proficiency include inadequate conversational training, prognostic uncertainty, and unfamiliarity with hospice and palliative care...
December 30, 2016: Healthcare
https://www.readbyqxmd.com/read/28042904/the-polyanalgesic-consensus-conference-pacc-recommendations-on-intrathecal-drug-infusion-systems-best-practices-and-guidelines
#15
REVIEW
Timothy R Deer, Jason E Pope, Salim Hayek, Anjum Bux, Eric Buchser, Sam Eldabe, Jose A De Andrés, Michael Erdek, Dennis Patin, Jay S Grider, Daniel M Doleys, Marilyn S Jacobs, Tony L Yaksh, Lawrence Poree, Mark S Wallace, Joshua Prager, Richard Rauck, Oscar DeLeon, Sudhir Diwan, Steven M Falowski, Helena M Gazelka, Philip Kim, Michael Leong, Robert M Levy, Gladstone McDowell Ii, Porter McRoberts, Ramana Naidu, Samir Narouze, Christophe Perruchoud, Steven M Rosen, William S Rosenberg, Michael Saulino, Peter Staats, Lisa J Stearns, Dean Willis, Elliot Krames, Marc Huntoon, Nagy Mekhail
INTRODUCTION: Pain treatment is best performed when a patient-centric, safety-based philosophy is used to determine an algorithmic process to guide care. Since 2007, the International Neuromodulation Society has organized a group of experts to evaluate evidence and create a Polyanalgesic Consensus Conference (PACC) to guide practice. METHODS: The current PACC update was designed to address the deficiencies and innovations emerging since the previous PACC publication of 2012...
January 2, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28042671/monte-carlo-decision-curve-analysis-using-aggregate-data
#16
Iztok Hozo, Athanasios Tsalatsanis, Benjamin Djulbegovic
BACKGROUND: Decision curve analysis (DCA) is an increasingly used method for evaluating diagnostic tests and predictive models but its application requires individual patient data. The Monte Carlo (MC) method can be used to simulate probabilities and outcomes of individual patients and offers an attractive option for application of DCA. METHODS: We constructed a MC decision model to simulate individual probabilities of outcomes of interest. These probabilities were contrasted against the threshold probability at which a decision-maker is indifferent between key management strategies: treat all, treat none, or use predictive model to guide treatment...
January 2, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28042073/predictors-of-complicated-grief-and-depression-in-bereaved-caregivers-a-nationwide-prospective-cohort-study
#17
Mette Kjaergaard Nielsen, Mette Asbjoern Neergaard, Anders Bonde Jensen, Peter Vedsted, Flemming Bro, Mai-Britt Guldin
CONTEXT: Complicated grief and depressive symptoms in bereaved caregivers have been associated with female gender, spousal relation and pre-loss psychological distress, but population-based, prospective studies are scarce. OBJECTIVES: We aimed to investigate whether severe pre-loss grief and depressive symptoms, caregiver burden, preparedness for death, communication about dying and socio-economic factors predicted complicated grief and post-loss depressive symptoms...
December 29, 2016: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28035750/bleeding-risk-of-terminally-ill-patients-hospitalized-in-palliative-care-units-the-rheso-study
#18
Bernard Tardy, Stéphane Picard, Frédéric Guirimand, Céline Chapelle, Marie Delerue Danel, Thomas Celarier, Jean-François Ciais, Pascale Vassal, Sébastien Salas, Marilène Filbet, Jean-Marie Gomas, Aline Guillot, Jean-Baptiste Gaultier, Adel Merah, Anne Richard, Silvy Laporte, Laurent Bertoletti
BACKGROUND: The value of primary thromboprophylaxis in patients admitted to palliative care units is debated. Moreover, the bleeding risk of these patients is unknown. OBJECTIVES: Our primary aim was to assess the bleeding risk of patients in a real-world practice setting of hospital palliative care. Our secondary aim was to determine the incidence of symptomatic deep-vein thrombosis and to identify risk factors for bleeding. PATIENTS/METHODS: In this prospective, observational study in 22 French palliative care units, 1199 patients (median age: 71 years, male: 45...
December 30, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28028224/ape2-zf-grf-facilitates-3-5-resection-of-dna-damage-following-oxidative-stress
#19
Bret D Wallace, Zachary Berman, Geoffrey A Mueller, Yunfeng Lin, Timothy Chang, Sara N Andres, Jessica L Wojtaszek, Eugene F DeRose, C Denise Appel, Robert E London, Shan Yan, R Scott Williams
The Xenopus laevis APE2 (apurinic/apyrimidinic endonuclease 2) nuclease participates in 3'-5' nucleolytic resection of oxidative DNA damage and activation of the ATR-Chk1 DNA damage response (DDR) pathway via ill-defined mechanisms. Here we report that APE2 resection activity is regulated by DNA interactions in its Zf-GRF domain, a region sharing high homology with DDR proteins Topoisomerase 3α (TOP3α) and NEIL3 (Nei-like DNA glycosylase 3), as well as transcription and RNA regulatory proteins, such as TTF2 (transcription termination factor 2), TFIIS, and RPB9...
December 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28027127/the-evolution-of-hope-in-patients-with-terminal-illness
#20
Maria Francesca Drews
No abstract text is available yet for this article.
January 2017: Nursing
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