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https://www.readbyqxmd.com/read/29773611/charlie-gard-and-the-weight-of-parental-rights-to-seek-experimental-treatment
#1
Giles Birchley
The case of Charlie Gard, an infant with a genetic illness whose parents sought experimental treatment in the USA, brought important debates about the moral status of parents and children to the public eye. After setting out the facts of the case, this article considers some of these debates through the lens of parental rights. Parental rights are most commonly based on the promotion of a child's welfare; however, in Charlie's case, promotion of Charlie's welfare cannot explain every fact of the case. Indeed, some seem most logically to extend from intrinsic parental rights, that is, parental rights that exist independent of welfare promotion...
May 17, 2018: Journal of Medical Ethics
https://www.readbyqxmd.com/read/29773084/sexual-and-reproductive-health-concerns-of-persons-with-disability-in-india-an-issue-of-deep-rooted-silence
#2
Seema Sharma, Muthusamy Sivakami
SummaryGlobal estimates suggest that over a billion people live with a disability that is significant enough to affect their daily lives. According to the 2011 Indian Census, India alone has about 26.8 million people with disabilities. Research suggests that persons with disabilities (PwDs) in India are among the most neglected, stigmatized, poor and least educated of the world's population, and women with disabilities in India are the most marginalized, both socially and economically. They bear the triple burden of being discriminated against through being 'women' (socially marginal beings), 'disabled' (incapacitated, inefficient and undesirable) and 'women with disabilities' (the weakest of the weak), often becoming socially invisible...
May 18, 2018: Journal of Biosocial Science
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#3
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29770430/nr4a2-haploinsufficiency-is-associated-with-intellectual-disability-and-autism-spectrum-disorder
#4
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#5
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29766009/persistent-buttock-claudication-after-endovascular-abdominal-aortic-aneurysm-repair
#6
Alessandro Robaldo, Stefano Pagliari, Filippo Piaggio, Patrizio Colotto
We describe the successful surgical treatment of a 71-year-old man affected by right buttock claudication after a right internal iliac artery (IIA) coil embolization as an adjunct to endovascular iliac artery aneurysm repair. Computed tomography angiography revealed extensive aortoiliac calcifications and thrombus in the vessel walls. Despite patency of the contralateral IIA and preservation of right distal collateral flow through ipsilateral hypogastric branches, the symptom was persistent and disabling. The high-risk patient underwent an "open" repair of the infrarenal abdominal aneurysm with removal of the entire stent-graft and concomitant revascularization of the right IIA...
December 2017: Aorta (Stamford, Conn.)
https://www.readbyqxmd.com/read/29764276/-it-s-our-everyday-life-the-perspectives-of-persons-with-intellectual-disabilities-in-norway
#7
Aud Elisabeth Witsø, Brit Hauger
This study illuminates how adults with intellectual disabilities understand and describe their everyday life and its shortcomings when it comes to equal rights in the context of Norwegian community living. An inclusive research design, including nine persons with mild intellectual disability, two university researchers and two intellectual disability nurses from the municipality, was undertaken. An inductive thematic analysis of data identified three key themes: everyday life - context, rhythm and structure, social participation and staff - an ambiguous part of everyday life...
January 1, 2018: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/29764102/assessment-of-the-effects-of-economic-sanctions-on-iranians-right-to-health-by-using-human-rights-impact-assessment-tool-a-systematic-review
#8
Fatemeh Kokabisaghi
BACKGROUND: Over the years, economic sanctions have contributed to violation of right to health in target countries. Iran has been under comprehensive unilateral economic sanctions by groups of countries (not United Nations [UN]) in recent years. They have been intensified from 2012 because of international community's uncertainty about peaceful purpose of Iran's nuclear program and inadequacy of trust-building actions of this country. This review aimed to identify the humanitarian effects of the sanctions on the right of Iranians to health and the obligations of Iran and international community about it...
January 20, 2018: International Journal of Health Policy and Management
https://www.readbyqxmd.com/read/29763516/influence-of-plaque-control-on-the-relationship-between-rheumatoid-arthritis-and-periodontal-health-status-among-japanese-rheumatoid-arthritis-patients
#9
Hiroko Hashimoto, Shimpei Hashimoto, Akinori Muto, Nanae Dewake, Yoshihiro Shimazaki
BACKGROUND: Functional disability of the finger joints in rheumatoid arthritis (RA) patients could affect their oral hygiene and periodontal status due to poor plaque control. We examined the influence of plaque control on the relationship between the severity of RA and periodontal status in RA patients. METHODS: This study recruited 89 Japanese RA patients who reported no difficulty in performing oral hygiene. We assessed RA severity using four indices: the Steinbrocker stage and class, the Health Assessment Questionnaire (HAQ) and the Disease Activity Score (DAS)...
May 15, 2018: Journal of Periodontology
https://www.readbyqxmd.com/read/29761852/the-role-of-professionals-in-promoting-independent-living-perspectives-of-self-advocates-and-front-line-managers
#10
Maria Pallisera, Montserrat Vilà, Judit Fullana, Gemma Díaz-Garolera, Carolina Puyalto, Maria-Josep Valls
BACKGROUND: Support from professionals plays an important role in helping people with intellectual disabilities to live an independent life. This research aims to analyse the role played by support professionals based on the perceptions of the professionals and self-advocates with intellectual disabilities. The research was conducted in Catalonia (Spain). METHOD: A total of 33 interviews were conducted with front-line managers and 10 focus groups with 72 self-advocates...
May 15, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29761638/ultra-sound-guided-neurolysis-of-six-genicular-nerves-of-knee-for-intractable-pain-from-knee-osteoarthritis-a-case-series
#11
Arif Ahmed, Divesh Arora
INTRODUCTION: Among the elderly populations, the chronic osteoarthritis of knee joint is one of the leading cause of disability and causes considerable pain, joint stiffness and functional limitations. Although knee replacement is a good option for the grade IV osteoarthritis, but many patients failed to undergo surgery due to co-morbidities or other reasons. METHODS: Four patient with severe pain from grade III and IV osteoarthritis of knee joint had underwent ultrasound guided alcohol neurolysis of the six genicular nerves of knee joint after a positive genicular nerve block with local anesthetics...
May 14, 2018: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/29758292/novel-truncating-ppm1d-mutation-in-a-patient-with-intellectual-disability
#12
Joseph Porrmann, Andreas Rump, Karl Hackmann, Nataliya Di Donato, Anne-Karin Kahlert, Johannes Wagner, Arne Jahn, Ines Eger, Monika Flury, Evelin Schrock, Andreas Tzschach, Laura Gieldon
Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as well as a high pain threshold were described as additional characteristic features and the disorder was subsequently termed "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)" in the OMIM database (MIM # 617450). Here we report on an additional patient carrying a novel de novo truncating mutation NM_003620...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29757962/the-relationship-between-shoe-fitting-and-foot-health-of-persons-with-down-syndrome-a-case-control-study
#13
César Calvo-Lobo, Ana Ramos García, Marta Elena Losa Iglesias, Daniel López-López, David Rodríguez-Sanz, Carlos Romero-Morales, Ricardo Becerro-de-Bengoa-Vallejo
Background : Down syndrome is the most common chromosomal abnormality and a cause of intellectual disability. It is also associated with orthopaedic and musculoskeletal problems of the locomotive apparatus, especially of the feet. These problems are believed to have a harmful effect on health, social functioning, and mobility. In addition, these persons generally don't have access to podiatric health services, even when their foot problems are well known, because of limited access to healthcare facilities. The goal of our research was to evaluate and compare the foot health status of study participants with and without Down syndrome and to determine whether inadequate footwear is being used with normalized reference values...
May 14, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29755238/cervical-sagittal-balance-parameters-after-single-level-anterior-cervical-discectomy-and-fusion-correlations-with-clinical-and-functional-outcomes
#14
Ioannis Siasios, Evan Winograd, Asham Khan, Kunal Vakharia, Vassilios G Dimopoulos, John Pollina
Background: Normal sagittal cervical alignment has been associated with improved outcome after anterior cervical discectomy and fusion (ACDF). Objective: The aim of this study is to identify alterations of cervical sagittal balance parameters after single-level ACDF and assess correlations with postoperative functionality. Methods: A retrospective chart review was performed between January 2010 and January 2014 to identify adult patients with no previous cervical spine surgery who underwent ACDF at any one level between C2 and C7 for the single-level degenerative disease...
January 2018: Journal of Craniovertebral Junction and Spine
https://www.readbyqxmd.com/read/29754439/exploring-psychological-mechanisms-of-clinical-response-to-an-internet-delivered-psychological-pain-management-program
#15
Milena Gandy, Eyal Karin, Michael Jones, Sarah McDonald, Louise Sharpe, Nick Titov, Blake Farran Dear
BACKGROUND: The evidence for Internet-delivered pain management programs for chronic pain is growing, but there is little empirical understanding of how they effect change. Understanding mechanisms of clinical response to these programs could inform their effective development and delivery. METHODS: A large sample (n = 396) from a previous randomised controlled trial of a validated internet-delivered psychological pain management program, the Pain Course, was used to examine the influence of three potential psychological mechanisms (pain acceptance, pain self-efficacy, fear of movement/re-injury) on treatment-related change in disability, depression, anxiety and average pain...
May 13, 2018: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/29751371/status-epilepticus-associated-with-acute-encephalitis-long-term-follow-up-of-functional-and-cognitive-outcomes-in-72-patients
#16
Weibi Chen, Yingying Su, Mengdi Jiang, Gang Liu, Fei Tian, Guoping Ren
BACKGROUND: Continued care in patients with encephalitis and prolonged status epilepticus (SE) is controversial. Limited data is available on the functional and cognitive outcomes. METHODS: In a prospective cohort study from 2007 to 2016, patients with acute encephalitis and SE were reviewed. Long-term outcomes including motor disability (modified Rankin Scale, mRS), daily living skills (activities of daily living, ADL), cognitive ability (modified Telephone Interview for Cognitive Status, TICS-M) and epilepsy sequelae, were evaluated in those survivors at 12-month follow-up...
May 11, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29749025/photobiomodulation-induces-antinociception-recovers-structural-aspects-and-regulates-mitochondrial-homeostasis-in-peripheral-nerve-of-diabetic-mice
#17
Victória Regina da Silva de Oliveira, Diego Pulzatto Cury, Laura Basílio Yamashita, Marcos Vinicius Esteca, Ii-Sei Watanabe, Yoko Fee Bergmann, Elaine Flamia Toniolo, Camila Squarzoni Dale
Diabetic Peripheral Neuropathy (DPN) is a nervous disorder caused by diabetes mellitus, affecting about 50% of patients in clinical medicine. Chronic pain is one of the major and most unpleasant symptoms developed by those patients, and conventional available treatments for the neuropathy, including the associated pain, are still unsatisfactory and benefit only a small number of patients. Photobiomodulation (PBM) has been gaining clinical acceptance once it is able to promote early nerve regeneration resulting in significant improvement peripheral nerves disabilities...
May 11, 2018: Journal of Biophotonics
https://www.readbyqxmd.com/read/29746475/realization-of-the-rights-of-persons-with-disabilities-in-rwanda
#18
Janet Njelesani, Jenna Siegel, Emily Ullrich
This scoping study assessed the realization of the rights for persons with disabilities in Rwanda since the signing of the United Nations Convention on the Rights of Persons with Disabilities (UN CRPD) in 2008. Underpinned by the five-stage framework of Arksey and O'Malley, the scoping study examined peer-reviewed literature published between 2008 and 2017. Nine electronic databases were searched using keywords specific to disability in Rwanda. Data were charted by three reviewers according to pre-determined and emergent categories...
2018: PloS One
https://www.readbyqxmd.com/read/29746011/medication-overuse-headache-detoxification-reduces-headache-disability-the-akershus-study-of-chronic-headache
#19
Espen Saxhaug Kristoffersen, Ragnhild Berling Grande, Kjersti Aaseth, Michael Bjørn Russell, Christofer Lundqvist
BACKGROUND: Medication-overuse headache (MOH) is a chronic headache (≥ 15 days/month) associated with overuse of acute headache medication. The objective was to investigate headache-related disability before and after self-detoxification from MOH in the general population, as well as possible predictors for successful outcome. METHODS: A prospective cohort study. Participants were identified in a cross-sectional epidemiological sample of 30 000 persons aged 30-44 from the general Norwegian population...
May 10, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29740872/prodromal-symptoms-of-multiple-sclerosis-in-primary-care
#20
Giulio Disanto, Chiara Zecca, Sharon MacLachlan, Rosaria Sacco, Lahiru Handunnetthi, Ute C Meier, Alex Simpson, Laura McDonald, Andrea Rossi, Pascal Benkert, Jens Kuhle, Sreeram V Ramagopalan, Claudio Gobbi
OBJECTIVE: Early diagnosis and treatment initiation significantly influence long term disability outcome in multiple sclerosis (MS). We aimed at identifying prodromal symptoms of MS in primary care settings. METHODS: This was a nested case-control study comparing the occurrence of various symptoms in MS patients vs controls at 0-2, 2-5 and 5-10 years before index date (first MS record). A total of 10,204 incident MS cases were identified within the UK Clinical Practice Research Datalink (CPRD) between 01/01/1987 and 28/02/2016 (median (IQR) age=47 (39-57) years, females=7,308 (71...
May 8, 2018: Annals of Neurology
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