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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/28076529/relationships-between-oncohematopediatrics-mothers-and-children-in-communicating-bad-news
#2
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/28073465/-depression-in-relatives-of-patients-with-schizophrenia-8-month-longitudinal-outcome-of-profamille-program
#3
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
#4
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
#5
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
#6
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
#7
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/28056515/race-ethnicity-as-a-predictor-for-location-of-death-in-patients-with-acute-neurovascular-events
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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/28027127/the-evolution-of-hope-in-patients-with-terminal-illness
#15
Maria Francesca Drews
No abstract text is available yet for this article.
January 2017: Nursing
https://www.readbyqxmd.com/read/28011973/pulmonary-and-vertebral-mycobacterium-avium-disease-in-a-hiv-negative-71-year-old-man-a-case-report
#16
Mihailo I Stjepanovic, Dragica P Pesut, Aleksandar R Lesic, Ruza S Stevic
Nontuberculous mycobacteria (NTM) caused pulmonary disease is on increase worldwide, especially in countries with decreasing time trend of tuberculosis incidence. NTM skeletal affection is rare. Mycobacterium avium related disease, with still unclear clinical and radiologic features, is in current focus of both clinicians and researchers. An exhausted severely ill 71-year-old man was admitted on emergency due to cough, dyspnea and lumbar back pain to be diagnosed with terminal phase M. avium disease. Three sputum smears were positive for acid fast bacilli and M...
1, 2016: Le Infezioni in Medicina
https://www.readbyqxmd.com/read/28011502/objective-predictive-score-as-a-feasible-biomarker-for-short-term-survival-in-terminaliy-ill-patients-with-cancer
#17
Yoshinaga Okugawa, Yumiko Shirai, Hiroko Nodono, Fukumi Matsutani, Mari Itoh, Asahi Hishida, Yuki Morimoto, Ryutaro Nishikawa, Takeshi Yokoe, Koji Tanaka, Hisashi Urata, Yuji Toiyama, Toshimitsu Araki, Yasuhiro Inoue, Motoyoshi Tanaka, Masato Kusunoki, Chikao Miki
BACKGROUND: In palliative care, prediction of life expectancy is one of the most crucial issues for patients, family and medical staff, in order to provide appropriate end-of-life care. The aim of this study was to formulate a new objective score to predict life expectancy within 1 week for terminally ill patients with cancer. PATIENTS AND METHODS: Medical records were obtained from 187 terminally-ill patients with cancer who were admitted for palliative care. The biomarkers for a potential 'Objective Predictive Score' were assessed...
January 2017: Anticancer Research
https://www.readbyqxmd.com/read/28000486/factors-influencing-pain-therapy-for-metastatic-cancer-patients-in-bosnia-and-herzegovina
#18
Ivana Tica Sedlar, Sanda Čale, Ana Parić, Marija Perić, Jasna Jurčić, Eduard Vrdoljak
OBJECTIVE: To investigate cancer pain management and evaluate factors that could be addressed and lead to potential improvement of pain therapy. MATHERIALS AND METHODS: Two hundred patients with metastatic cancer pain at the Department of Oncology, University Hospital Mostar, completed questionnaires about cancer pain treatment. Thirty oncologists from the Cancer Institute, University of Sarajevo and the Department of Oncology, Clinical Hospital, Mostar were asked to complete the questionnaire about cancer pain management...
November 2016: Acta Medica Academica
https://www.readbyqxmd.com/read/27999853/nutritional-follow-up-after-discharge-prevents-readmission-to-hospital-a-randomized-clinical-trial
#19
J Lindegaard Pedersen, P U Pedersen, E M Damsgaard
OBJECTIVE: To compare the effects of two individualized nutritional follow-up intervention strategies (home visit or telephone consultation) with no follow-up, with regard to acute readmissions to hospital at two points in time, 30 and 90 days after discharge from hospital. DESIGN: Randomized clinical trial with two intervention groups and one control group, and monitoring on readmission at 30 and 90 days after discharge. SETTING: Intervention in the participants' homes after discharge from hospital...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/27997295/dementia-caregivers-and-live-discharge-from-hospice-what-happens-when-hospice-leaves
#20
Stephanie P Wladkowski
Hospice offers holistic support for individuals living with terminal illness and their caregivers. However, some individuals who enroll onto hospice services do not decline in health as quickly as determined by current regulations, termed a 'live discharge.' Persons with dementia are among those who experience a live discharge due to the slow physical decline associated with the disease. When a live discharge occurs, it affects not only the patient but also the caregiver(s). There is very little data on the outcomes of persons who experience a live discharge and even less on their caretakers...
December 20, 2016: Journal of Gerontological Social Work
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