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https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#1
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27904818/the-government-s-role-in-regulating-coordinating-and-standardizing-the-response-to-alzheimer-s-disease-anticipated-international-cooperation-in-the-area-of-intractable-and-rare-diseases
#2
REVIEW
Qi Tang, Peipei Song, Lingzhong Xu
The World Health Organization (WHO) has emphasized that aging of the population is inextricably linked to many other global public health issues, such as universal health coverage, non-communicable diseases, and disability. However, Alzheimer's Disease International (ADI) estimates that 46.8 million elderly people worldwide were living with dementia in 2015. Alzheimer's disease (AD), the most common form of dementia, is one of the most common neurodegenerative diseases and is the main cause of cognitive impairment...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27903343/-investigation-of-the-compliance-of-cervical-collar-therapy-in-73-patients-with-hirayama-disease
#3
Y Fu, W Qin, Q L Sun, D S Fan
Objective: To summarize the therapeutic approaches of patients with Hirayama disease and investigate the patient's compliance to cervical collar therapy and its influencing factors. Methods: This was a retrospectively study.The clinical data of 73 patients was collected from Peking university 3(rd) hospital between 2010 and 2014. Results: (1)Of the 73 patients, 10 patients received surgery, 36 patients received collar therapy , and 27 patients received other conservative therapy at first visit.(2)The mean collar wearing time was from 0...
November 22, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27902848/topiramate-in-migraine-prevention-a-2016-perspective
#4
Stephen D Silberstein
BACKGROUND: In evidence-based guidelines published in 2000, topiramate was a third-tier migraine preventive with no scientific evidence of efficacy; recommendation for its use reflected consensus opinion and clinical experience. Its neurostabilizing activity, coupled with its favorable weight profile, made topiramate an attractive alternative to other migraine preventives that caused weight gain. When guidelines for migraine prevention in episodic migraine were published in 2012, topiramate was included as a first-line option based on double-blind, randomized controlled trials involving nearly 3000 patients...
November 30, 2016: Headache
https://www.readbyqxmd.com/read/27900874/human-pluripotent-stem-cells-in-modeling-human-disorders-the-case-of-fragile-x-syndrome
#5
Dan Vershkov, Nissim Benvenisty
Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS...
November 30, 2016: Regenerative Medicine
https://www.readbyqxmd.com/read/27900169/neuromuscular-exercise-and-back-counselling-for-female-nursing-personnel-with-recurrent-non-specific-low-back-pain-study-protocol-of-a-randomised-controlled-trial-nurse-rct
#6
Jaana H Suni, Marjo Rinne, Markku Kankaanpää, Annika Taulaniemi, Sirpa Lusa, Harri Lindholm, Jari Parkkari
INTRODUCTION: Nursing personnel have high risk for incidence of low back pain (LBP) followed by development of chronic pain and disability. Multiple risk factors such as patient handling, night shift work and lack of supporting work culture have been identified. In subacute LBP, high-fear avoidance is prognostic for more pain, disability and not returning to work. Lack of leisure-time physical activity predicts long-term sickness absence. The purpose of this study is to compare effectiveness of 6-month neuromuscular exercise and counselling in treating back pain in female nursing personnel with recurrent non-specific LBP pain compared with either (exercise or counselling) alone and a non-treatment control group...
2016: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/27899093/microbiological-profile-of-corneal-ulcer-cases-diagnosed-in-a-tertiary-care-ophthalmological-institute-in-nepal
#7
Sharmila Suwal, Dinesh Bhandari, Pratigya Thapa, Mohan Krishna Shrestha, Jyoti Amatya
BACKGROUND: Corneal ulcer, a major cause of monocular blindness in developing countries has consistently been listed as the major cause of blindness and visual disability in many of the developing nations in Asia, Africa and the Middle East, ranking second only to cataract. This study was carried out to determine the microbiological profile of corneal ulcer cases diagnosed among patients visiting Tilganga Institute of Ophthalmology (TIO), Nepal. METHODS: A total of 101 corneal scrapping samples were tested for routine culture and antibiotic susceptibility at the pathology department of TIO Nepal from April to October 2014...
November 29, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#8
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27892723/optimization-and-stratification-of-multiple-sclerosis-treatment-in-fast-developing-economic-countries-a-perspective-from-qatar
#9
Dirk Deleu, Boulenouar Mesraoua, Hisham El Khider, Beatriz Canibano, Gayane Melikyan, Hassan Al Hail, Noha Mhjob, Anjushri Bhagat, Faiza Ibrahim, Yolande Hanssens
OBJECTIVE: The introduction of disease-modifying therapies (DMTs) - with varying degrees of efficacy for reducing annual relapse rate and disability progression - has considerably transformed the therapeutic landscape of relapsing-remitting multiple sclerosis (RRMS). We aim to develop rational evidence-based treatment recommendations and algorithms for the management of clinically isolated syndrome (CIS) and RRMS conform to the healthcare system in a fast-developing economic country such as Qatar...
November 28, 2016: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/27886944/osteoarthritis-models-for-appropriate-care-across-the-disease-continuum
#10
REVIEW
Kelli D Allen, Peter F Choong, Aileen M Davis, Michelle M Dowsey, Krysia S Dziedzic, Carolyn Emery, David J Hunter, Elena Losina, Alexandra E Page, Ewa M Roos, Søren T Skou, Carina A Thorstensson, Martin van der Esch, Jackie L Whittaker
Osteoarthritis (OA) is a leading cause of pain and disability worldwide. Despite the existence of evidence-based treatments and guidelines, substantial gaps remain in the quality of OA management. There is underutilization of behavioral and rehabilitative strategies to prevent and treat OA as well as a lack of processes to tailor treatment selection according to patient characteristics and preferences. There are emerging efforts in multiple countries to implement models of OA care, particularly focused on improving nonsurgical management...
June 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27886894/homonymous-hemianopia-and-vision-restoration-therapy
#11
REVIEW
Alexander Frolov, Jeanne Feuerstein, Prem S Subramanian
Homonymous hemianopia from stroke causes visual disability. Although some patients experience spontaneous improvement, others have limited to no change and may be left with a severe disability. Current rehabilitation strategies are compensatory and cannot restore function. Animal studies suggest that central nervous system plasticity could allow for redirection of lost visual function into undamaged areas of cortex. A commercial therapy system was developed, from which claims of visual field expansion were disputed by independent researchers...
February 2017: Neurologic Clinics
https://www.readbyqxmd.com/read/27886882/pharmacologic-management-of-acute-spinal-cord-injury
#12
REVIEW
Michael Karsy, Gregory Hawryluk
Spinal cord injury is a serious global public health problem that often leaves patients with devastating permanent disabilities. Although advances in supportive care have improved outcome in recent decades, there remains great need for a safe and efficacious medical treatment that improves neurologic outcome. This article reviews pharmacologic treatments evaluated or in the process of development in humans. Cellular transplantation strategies are briefly reviewed especially where they have been evaluated with pharmacologic treatments...
January 2017: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/27882480/phenotype-biochemical-features-genotype-and-treatment-outcome-of-pyridoxine-dependent-epilepsy
#13
Amal Al Teneiji, Theodora U J Bruun, Dawn Cordeiro, Jaina Patel, Michal Inbar-Feigenberg, Shelly Weiss, Eduard Struys, Saadet Mercimek-Mahmutoglu
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1). We developed a clinical severity score to compare phenotype with biochemical features, genotype and delays in the initiation of pyridoxine. Clinical severity score included 1) global developmental delay/ intellectual disability; 2) age of seizure onset prior to pyridoxine; 3) current seizures on treatment. Phenotype scored 1-3 = mild; 4-6 = moderate; and 7-9 = severe...
November 23, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27880650/deconstructing-chronic-low-back-pain-in-the-older-adult-step-by-step-evidence-and-expert-based-recommendations-for-evaluation-and-treatment-part-xi-dementia
#14
Rollin Wright, Monica Malec, Joseph W Shega, Eric Rodriguez, Joseph Kulas, Lisa Morrow, Juleen Rodakowski, Todd Semla, Debra K Weiner
: OBJECTIVE : To present the 11th in a series of articles designed to deconstruct chronic low back pain (CLBP) in older adults. The series presents CLBP as a syndrome, a final common pathway for the expression of multiple contributors rather than a disease localized exclusively to the lumbosacral spine. Each article addresses one of 12 important contributions to pain and disability in older adults with CLBP. This article focuses on dementia. METHODS:  A modified Delphi technique was used to develop an algorithm for an approach to treatment for older adults living with CLBP and dementia...
November 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/27878522/informal-care-time-and-cost-in-a-large-clinical-trial-sample-of-patients-with-mild-to-moderate-alzheimer-s-disease-determinants-and-level-of-change-observed
#15
Loretto Lacey, Joel Bobula, Timothy Niecko, Christopher Leibman
INTRODUCTION: We evaluate the association between caregiver (informal) time/cost and illness severity from two recently completed clinical trials of an investigational drug for Alzheimer's disease (AD). METHODS: Changes from baseline caregiver time were calculated and treatment effects analyzed using a restricted maximum likelihood-based mixed model for repeated measures. Four separate models were then estimated to examine the association between caregiver time costs and the clinical endpoints measured during the trials, including cognition (MMSE), function (DAD), behavior (NPI), global disability (CDR) and dependence (DS)...
November 22, 2016: Neurology and Therapy
https://www.readbyqxmd.com/read/27878517/risks-associated-with-misuse-of-ketamine-as-a-rapid-acting-antidepressant
#16
Weili Zhu, Zengbo Ding, Yinan Zhang, Jie Shi, Kenji Hashimoto, Lin Lu
Major depression is a serious psychiatric disorder and remains a leading cause of disability worldwide. Conventional antidepressants take at least several weeks to achieve a therapeutic response and this lag period has hindered their ability to attain beneficial effects in depressed individuals at high risk of suicide. The non-competitive N-methyl-D-aspartate glutamate receptor antagonist ketamine has been shown to have rapid antidepressant effects in both rodents and humans. The emergence of ketamine as a fast-acting antidepressant provides promising new insights into the development of a rapid treatment response in patients with clinical depression...
November 22, 2016: Neuroscience Bulletin
https://www.readbyqxmd.com/read/27872899/de-novo-fgf12-mutation-in-2-patients-with-neonatal-onset-epilepsy
#17
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle L Thompson, Gregory M Cooper, Daniel M Evans, Sarah E Buerki, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Mary B Connolly, Matthew J Farrer, Michelle Demos
OBJECTIVE: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12 mutation. METHODS: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical evolution, EEG, and neuroimaging are described. The phenotype and response to treatment was reviewed and compared to affected siblings in the original report. RESULTS: We identified the same FGF12 de novo mutation reported previously (c...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27869890/-anmco-sic-sici-gise-sicch-consensus-document-risk-stratification-in-elderly-patients-undergoing-cardiac-surgery-and-transcatheter-aortic-valve-implantation
#18
Giovanni Pulignano, Michele Massimo Gulizia, Samuele Baldasseroni, Francesco Bedogni, Giovanni Cioffi, Ciro Indolfi, Francesco Romeo, Adriano Murrone, Francesco Musumeci, Alessandro Parolari, Leonardo Patanè, Paolo Giuseppe Pino, Annalisa Mongiardo, Carmen Spaccarotella, Roberto Di Bartolomeo, Giuseppe Musumeci
Aortic stenosis is one the most frequent valvular diseases in developed countries, and its impact on public healthcare resources and assistance is increasing. A substantial proportion of elderly patients with severe aortic stenosis is frequently not eligible for surgery because of advanced age, frailty and multiple comorbidities. Transcatheter aortic valve implantation (TAVI) enables the treatment of very elderly patients at high or prohibitive surgical risk considered ineligible for surgery and with an acceptable life expectancy...
September 2016: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/27866794/treatment-of-symptomatic-acromioclavicular-joint-instability-by-a-docking-technique-clinical-indications-surgical-technique-and-outcomes
#19
W Ben Kibler, Aaron D Sciascia, Brent J Morris, David C Dome
PURPOSE: To report functional and objective outcomes resulting from surgical treatment of patients with symptomatic type III through V acromioclavicular (AC) joint injury by use of a modification of the anatomic AC joint reconstruction developed by Carofino and Mazzocca. METHODS: The study included all patients treated in 2009-2014 who presented with a history of direct trauma to the shoulder; deformity of the AC joint on clinical examination; radiographic findings that would classify the injury as a Rockwood type III, IV, or V injury; AC joint instability on clinical examination; and self-reported deficits of arm function on initial presentation, in whom a comprehensive and directed nonoperative program failed...
November 17, 2016: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/27862809/assessing-understanding-patients-prescribed-natalizumab-for-multiple-sclerosis-individual-risk-and-symptoms-of-progressive-multifocal-leukoencephalopathy
#20
Louise Rath, Nirosen Vijiaratnam, Olga Skibina
BACKGROUND: Natalizumab, a monoclonal antibody directed against α4 integrin, is a highly efficacious treatment commonly used in Relapsing Remitting Multiple Sclerosis (MS). Natalizumab is associated with the potentially fatal rare demyelinating opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Prognosis and disability from PML is determined by early diagnosis. Written tools are mandated in Australia and other prescribing countries with the aim to help patients understand the risks associated with treatment and ensure familiarity with the early symptoms of PML...
November 9, 2016: Internal Medicine Journal
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